publicaciones derivadas de la investigaciÓn cegen - …new toxicity variants at dpyd and a putative...

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PUBLICACIONES DERIVADAS DE LA INVESTIGACIÓN CEGEN - PRB2 – ISCIII:

PÁGINAS 2 – 114

➢ NODO CEGEN-CNIO: PÁGINAS 2 - 79

PUBLICACIONES 2014: PÁGINAS 2 - 16





➢ NODO CEGEN-USC: PÁGINAS 80 - 114


PUBLICACIONES 2015: PÁGINAS 92 – 100



PUBLICACIONES DERIVADAS DE SERVICIOS PRESTADOS A USUARIOS EN EL

CEGEN - PRB2 – ISCIII: PÁGINAS 115 - 146

➢ NODO CEGEN-CNIO: PÁGINAS 115 - 126






➢ NODO CEGEN-USC: PÁGINAS 126 - 146




PUBLICACIONES 2017: PÁGINAS 139 – 143


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NODO CEGEN-CNIO

PUBLICACIONES 2014

1. Identification ofnew genetic susceptibility loci for breast cancer through consideration

ofgene-environment interactions.

Schoeps A, Rudolph A, Seibold P, Dunning AM, Milne RL, Bojesen SE, SwerdlowA, Andrulis I, Brenner H, Behrens S, Orr N, Jones M, Ashworth A, Li J, Cramp H,Connley D, Czene K, Darabi H, Chanock SJ, Lissowska J, Figueroa JD, Knight J,Glendon G, Mulligan AM, Dumont M, Severi G, Baglietto L, Olson J, Vachon C,Purrington K, Moisse M, Neven P, Wildiers H, Spurdle A, Kosma VM, Kataja V,Hartikainen JM, Hamann U, Ko YD, Dieffenbach AK, Arndt V, Stegmaier C, Malats N, Arias Perez JI, Benítez J, Flyger H, Nordestgaard BG, Truong T, Cordina-Duverger E, Menegaux F, dos Santos Silva I, Fletcher O, Johnson N, Häberle L, Beckmann MW,Ekici AB, Braaf L, Atsma F, van den Broek AJ, Makalic E, Schmidt DF, Southey MC, Cox A, Simard J, Giles GG, Lambrechts D, Mannermaa A, Brauch H, Guénel P, Peto J,Fasching PA, Hopper J, Flesch-Janys D, Couch F, Chenevix-Trench G, Pharoah PD, Garcia-Closas M, Schmidt MK, Hall P, Easton DF, Chang-Claude J. Genet Epidemiol. 2014 Jan;38(1):84-93. doi:10.1002/gepi.21771. Epub 2013 Nov 18. PubMed Central PMCID: PMC3995140. PMID: 24248812 FACTOR DE IMPACTO: 2.553 CUARTIL: Q1

2. Age at onset should be a major criterion forsubclassification of colorectal cancer.

Perea J, Rueda D, Canal A, Rodríguez Y, Álvaro E, Osorio I, Alegre C, Rivera B, Martínez J, Benítez J, Urioste M. J Mol Diagn. 2014 Jan;16(1):116-26. doi: 10.1016/j.jmoldx.2013.07.010. Epub 2013 Oct 30. PMID: 24184227 FACTOR DE IMPACTO: 5.201 CUARTIL: D1

3. FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium. Agarwal D, Pineda S, Michailidou K, Herranz J, Pita G, Moreno LT, Alonso MR, Dennis J, Wang Q, Bolla MK, Meyer KB, Menéndez-Rodríguez P, Hardisson D, Mendiola M, González-Neira A, Lindblom A, Margolin S, Swerdlow A, Ashworth A, Orr N, Jones M, Matsuo K, Ito H, Iwata H, Kondo N; kConFab Investigators; Australian Ovarian Cancer Study Group, Hartman M, Hui M, Lim WY, Iau PT, Sawyer E, Tomlinson I, Kerin M, Miller N, Kang D, Choi J-, Park SK, Noh D-, Hopper JL, Schmidt DF, Makalic E, Southey MC, Teo SH, Yip CH, Sivanandan K, Tay W-, Brauch H, Brüning T, Hamann U; GENICA Network, Dunning AM, Shah M, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Schmidt MK, Broeks A, Rosenberg EH, van't Veer LJ, Fasching PA, Renner SP, Ekici AB, Beckmann MW, Shen C-, Hsiung C-, Yu J-, Hou M-, Blot W, Cai Q, Wu AH, Tseng C-, Van Den Berg D, Stram DO, Cox A, Brock IW, Reed MW, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Zheng W, Deming-Halverson S, Shrubsole MJ, Long J, Shu X-, Lu W, Gao Y-, Zhang B, Radice P, Peterlongo P, Manoukian S, Mariette F, Sangrajrang S, McKay J, Couch FJ, Toland AE; TNBCC, Yannoukakos D, Fletcher O, Johnson N, dos Santos Silva I, Peto J, Marme F, Burwinkel B, Guénel P, Truong T, Sanchez M, Mulot C, Bojesen SE, Nordestgaard BG, Flyer H, Brenner H, Dieffenbach AK, Arndt V,

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Stegmaier C, Mannermaa A, Kataja V, Kosma V-, Hartikainen JM, Lambrechts D, Yesilyurt BT, Floris G, Leunen K, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Wang X, Olson JE, Vachon C, Purrington K, Giles GG, Severi G, Baglietto L, Haiman CA, Henderson BE, Schumacher F, Marchand LL, Simard J, Dumont M, Goldberg MS, Labréche F, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Devilee P, Tollenaar RA, Seynaeve C, García-Closas M, Chanock SJ, Lissowska J, Figueroa JD, Czene K, Eriksson M, Humphreys K, Darabi H, Hooning MJ, Kriege M, Collée JM, Tilanus-Linthorst M, Li J, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Bogdanova N, Dörk T, Hall P, Chenevix-Trench G, Easton DF, Pharroah PD, Arias-Perez JI, Zamora P, Benítez J, Milne RL. Br J Cancer. 2014 Feb 18;110(4):1088-100. doi: 10.1038/bjc.2013.769. PMID:24548884 FACTOR DE IMPACTO: 5.569 CUARTIL: Q1

4. A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS. Rosmarin D, Palles C, Pagnamenta A, Kaur K, Pita G, Martin M, Domingo E, Jones A, Howarth K, Freeman-Mills L, Johnstone E, Wang H, Love S, Scudder C, Julier P, Fernández-Rozadilla C, Ruiz-Ponte C, Carracedo A, Castellvi-Bel S, Castells A, Gonzalez-Neira A, Taylor J, Kerr R, Kerr D, Tomlinson I. Gut. 2014 Mar 19. doi: 10.1136/gutjnl-2013-306571. PMID: 24647007 FACTOR DE IMPACTO: 14.921 CUARTIL: D1

5. FAS system deregulation in T-cell lymphoblastic lymphoma. Villa-Morales M, Cobos MA, González-Gugel E, Álvarez-Iglesias V, Martínez B, Piris MA, Carracedo A, Benítez J, Fernández-Piqueras J. Cell Death Dis. 2014 Mar 6;5: e1110. doi: 10.1038/cddis.2014.83. PMID:24603338 FACTOR DE IMPACTO: 5.378 CUARTIL: Q1

6. A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia. Rivera B, Perea J, Sánchez E, Villapún M, Sánchez-Tomé E, Mercadillo F, Robledo M, Benítez J, Urioste M. Eur J Hum Genet. 2014 Mar;22(3):423-6. doi: 10.1038/ejhg.2013.146. Epub 2013 Jul 10. PMID: 23838596

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FACTOR DE IMPACTO: 4.58 CUARTIL: Q1

7. A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies

new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS.

Rosmarin D, Palles C, Pagnamenta A, Kaur K, Pita G, Martin M, Domingo E, Jones A, Howarth K, Freeman-Mills L, Johnstone E, Wang H, Love S, Scudder C, Julier P, Fernández-Rozadilla C, Ruiz-Ponte C, Carracedo A, Castellvi-Bel S, Castells A, Gonzalez-Neira A, Taylor J, Kerr R, Kerr D, Tomlinson I. Gut. 2014 Mar 19. doi: 10.1136/gutjnl-2013-306571. PMID:24647007 FACTOR DE IMPACTO: 14.921 CUARTIL: D1

8. Genetic predisposition to in situ and invasive lobular carcinoma of the breast.

Sawyer E, Roylance R, Petridis C, Brook MN, Nowinski S, Papouli E, Fletcher O, Pinder S, Hanby A, Kohut K, Gorman P, Caneppele M, Peto J, Dos Santos Silva I, Johnson N, Swann R, Dwek M, Perkins KA, Gillett C, Houlston R, Ross G, De Ieso P,Southey MC, Hopper JL, Provenzano E, Apicella C, Wesseling J, Cornelissen S,Keeman R, Fasching PA, Jud SM, Ekici AB, Beckmann MW, Kerin MJ, Marme F,Schneeweiss A, Sohn C, Burwinkel B, Guénel P, Truong T, Laurent-Puig P, Kerbrat P, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Milne RL, Perez JI, Menéndez P, Benitez J, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Meindl A,Lichtner P, Schmutzler RK, Lochmann M, Brauch H, Fischer HP, Ko YD; GENICA Network, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Bogdanova NV, Dörk T, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM,Chenevix-Trench G, Investigators K, Lambrechts D, Weltens C, Van Limbergen E,Hatse S, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Radice P,Peterlongo P, Bonanni B, Volorio S, Giles GG, Severi G, Baglietto L, McLean CA,Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Goldberg MS, Labrèche F, Dumont M, Kristensen V, Winqvist R, Pylkäs K, Jukkola-Vuorinen A,Kauppila S, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Devillee P, TollenaarRA, Seynaeve CM, Kriege M, Figueroa J, Chanock SJ, Sherman ME, Hooning MJ,Hollestelle A, van den Ouweland AM, van Deurzen CH, Li J, Czene K, Humphreys K,Cox A, Cross SS, Reed MW, Shah M, Jakubowska A, Lubinski J, Jaworska-Bieniek K,Durda K, Swerdlow A, Ashworth A, Orr N, Schoemaker M, Couch FJ, Hallberg E,González-Neira A, Pita G, Alonso MR, Tessier DC, Vincent D, Bacot F, Bolla MK,Wang Q, Dennis J, Michailidou K, Dunning AM, Hall P, Easton D, Pharoah P, Schmidt MK, Tomlinson I, Garcia-Closas M. PLoS Genet. 2014 Apr 17;10(4): e1004285. doi: 10.1371/journal.pgen.1004285. eCollection 2014 Apr. PubMed Central PMCID: PMC3990493. PMID: 24743323 FACTOR DE IMPACTO: 6.661 CUARTIL: D1

9. DNA glycosylases involved in base excision repair may be associated with cancer risk

in BRCA1 and BRCA2 mutation carriers.

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Osorio A, Milne RL, Kuchenbaecker K, Vaclová T, Pita G, Alonso R, Peterlongo P, Blanco I, de la Hoya M, Duran M, Díez O, Ramón Y Cajal T, Konstantopoulou I,Martínez-Bouzas C, Andrés Conejero R, Soucy P, McGuffog L, Barrowdale D, Lee A,Swe-Brca, Arver B, Rantala J, Loman N, Ehrencrona H, Olopade OI, Beattie MS, Domchek SM, Nathanson K, Rebbeck TR, Arun BK, Karlan BY, Walsh C, Lester J, John EM, Whittemore AS, Daly MB, Southey M, Hopper J, Terry MB, Buys SS, Janavicius R,Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Ejlertsen B, Gerdes AM, Infante M, Herráez B, Moreno LT, Weitzel JN, Herzog J,Weeman K, Manoukian S, Peissel B, Zaffaroni D, Scuvera G, Bonanni B, Mariette F, Volorio S, Viel A, Varesco L, Papi L, Ottini L, Tibiletti MG, Radice P,Yannoukakos D, Garber J, Ellis S, Frost D, Platte R, Fineberg E, Evans G, Lalloo F, Izatt L, Eeles R, Adlard J, Davidson R, Cole T, Eccles D, Cook J, Hodgson S,Brewer C, Tischkowitz M, Douglas F, Porteous M, Side L, Walker L, Morrison P,Donaldson A, Kennedy J, Foo C, Godwin AK, Schmutzler RK, Wappenschmidt B, RhiemK, Engel C, Meindl A, Ditsch N, Arnold N, Plendl HJ, Niederacher D, Sutter C,Wang-Gohrke S, Steinemann D, Preisler-Adams S, Kast K, Varon-Mateeva R, Gehrig A, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Damiola F, Poppe B, Claes K,Piedmonte M, Tucker K, Backes F, Rodríguez G, Brewster W, Wakeley K, RutherfordT, Caldés T, Nevanlinna H, Aittomäki K, Rookus MA, van Os TA, van der Kolk L, de Lange JL, Meijers-Heijboer HE, van der Hout AH, van Asperen CJ, Gómez Garcia EB, Hoogerbrugge N, Collée JM, van Deurzen CH, van der Luijt RB, Devilee P, Hebon,Olah E, Lázaro C, Teulé A, Menéndez M, Jakubowska A, Cybulski C, Gronwald J,Lubinski J, Durda K, Jaworska-Bieniek K, Johannsson OT, Maugard C, Montagna M,Tognazzo S, Teixeira MR, Healey S, Investigators K, Olswold C, Guidugli L, LindorN, Slager S, Szabo CI, Vijai J, Robson M, Kauff N, Zhang L, Rau-Murthy R,Fink-Retter A, Singer CF, Rappaport C, Geschwantler Kaulich D, Pfeiler G, Tea MK,Berger A, Phelan CM, Greene MH, Mai PL, Lejbkowicz F, Andrulis I, Mulligan AM,Glendon G, Toland AE, Bojesen A, Pedersen IS, Sunde L, Thomassen M, Kruse TA,Jensen UB, Friedman E, Laitman Y, Shimon SP, Simard J, Easton DF, Offit K, Couch FJ, Chenevix-Trench G, Antoniou AC, Benitez J. PLoS Genet. 2014 Apr 3;10(4): e1004256. doi: 10.1371/journal.pgen.1004256. eCollection 2014 Apr. PubMed PMID: 24698998; PubMed Central PMCID: PMC3974638. PMID:24698998 FACTOR DE IMPACTO: 6.661 CUARTIL: D1

10. CUL4A contributes to the biology of basal-like breast tumors through modulation of

cell growth and antitumor immune response.

Saucedo-Cuevas LP, Ruppen I, Ximénez-Embún P, Domingo S, Gayarre J, Muñoz J, Silva JM, García MJ, Benítez J. Oncotarget. 2014 Apr 30;5(8):2330-43. PubMed Central PMCID: PMC4039166. PMID: 24870930 FACTOR DE IMPACTO: 5.008 CUARTIL: Q1

11. A large-scale assessment of two-way SNPinteractions in breast cancer susceptibility

using 46,450 cases and 42,461controls from the breast cancer association consortium.

Milne RL, Herranz J, Michailidou K, Dennis J, Tyrer JP, Zamora MP, Arias-Perez JI, González-Neira A, Pita G, Alonso MR, Wang Q, Bolla MK, Czene K,Eriksson M, Humphreys K, Darabi H, Li J, Anton-Culver H, Neuhausen SL, Ziogas A, Clarke CA, Hopper JL, Dite GS, Apicella C, Southey MC, Chenevix-Trench G; kConFabInvestigators; Australian Ovarian Cancer Study

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Group, Swerdlow A, Ashworth A, Orr N, Schoemaker M, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Bojesen SE, Nordestgaard BG, Flyger H,Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Chang-Claude J, Rudolph A,Seibold P, Flesch-Janys D, Wang X, Olson JE, Vachon C, Purrington K, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Dunning AM, Shah M, Guénel P, Truong T, Sanchez M, Mulot C, Brennr H, Dieffenbach AK, Arndt V, Stegmaier C, Lindblom A, Margolin S, Hooning MJ, Hollestelle A, Collée JM, Jager A, Cox A, Brock IW, Reed MW, Devilee P, Tollenaar RA, Seynaeve C, Haiman CA, Henderson BE, Schumacher F,Le Marchand L, Simard J, Dumont M, Soucy P, Dörk T, Bogdanova NV, Hamann U,Försti A, Rüdiger T, Ulmer HU, Fasching PA, Häberle L, Ekici AB, Beckmann MW,Fletcher O, Johnson N, dos Santos Silva I, Peto J, Radice P, Peterlongo P,Peissel B, Mariani P, Giles GG, Severi G, Baglietto L, Sawyer E, Tomlinson I, Kerin M, Miller N, Marme F, Burwinkel B, Mannermaa A, Kataja V, Kosma VM,Hartikainen JM, Lambrechts D, Yesilyurt BT, Floris G, Leunen K, Alnæs GG,Kristensen V, Børresen-Dale AL, García-Closas M, Chanock SJ, Lissowska J,Figueroa JD, Schmidt MK, Broeks A, Verhoef S, Rutgers EJ, Brauch H, Brüning T, KoYD; GENICA Network, Couch FJ, Toland AE; TNBCC, Yannoukakos D, Pharoah PD, HallP, Benítez J, Malats N, Easton DF. Hum Mol Genet. 2014 Apr 1;23(7):1934-46. doi: 10.1093/hmg/ddt581. Epub 2013 Nov 15. PubMed Central PMCID: PMC3943524. PMID: 24242184 FACTOR DE IMPACTO: 5.985 CUARTIL: D1

12. Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens:

investigation in the QUASAR2 study, systematic review, and meta-analysis.

Rosmarin D, Palles C, Church D, Domingo E, Jones A, Johnstone E, Wang H, Love S, Julier P, Scudder C, Nicholson G, Gonzalez-Neira A, Martin M, Sargent D, Green E, McLeod H, Zanger UM, Schwab M, Braun M, Seymour M, Thompson L, Lacas B, Boige V, Ribelles N, Afzal S, Enghusen H, Jensen SA, Etienne-Grimaldi MC, Milano G, Wadelius M, Glimelius B, Garmo H, Gusella M, Lecomte T, Laurent-Puig P, Martinez-Balibrea E, Sharma R, Garcia-Foncillas J, Kleibl Z, Morel A, Pignon JP, Midgley R, Kerr D, Tomlinson I. J Clin Oncol. 2014 Apr 1;32(10):1031-9. doi: 10.1200/JCO.2013.51.1857. Epub 2014 Mar 3. Review. PMID:24590654 FACTOR DE IMPACTO: 20.982 CUARTIL: D1

13. Genetic predisposition to in situ and invasive lobular carcinoma of the breast. Sawyer E, Roylance R, Petridis C, Brook MN, Nowinski S, Papouli E, Fletcher O, Pinder S, Hanby A, Kohut K, Gorman P, Caneppele M, Peto J, Dos Santos Silva I, Johnson N, Swann R, Dwek M, Perkins KA, Gillett C, Houlston R, Ross G, De Ieso P, Southey MC, Hopper JL, Provenzano E, Apicella C, Wesseling J, Cornelissen S, Keeman R, Fasching PA, Jud SM, Ekici AB, Beckmann MW, Kerin MJ, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Guénel P, Truong T, Laurent-Puig P, Kerbrat P, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Milne RL, Perez JI, Menéndez P, Benitez J, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Meindl A, Lichtner P, Schmutzler RK, Lochmann M, Brauch H, Fischer HP, Ko YD; GENICA Network, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Bogdanova NV, Dörk T, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Chenevix-Trench G, Investigators K, Lambrechts D, Weltens C, Van Limbergen E, Hatse S, Chang-Claude J,

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Rudolph A, Seibold P, Flesch-Janys D, Radice P, Peterlongo P, Bonanni B, Volorio S, Giles GG, Severi G, Baglietto L, McLean CA, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Goldberg MS, Labrèche F, Dumont M, Kristensen V, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Kauppila S, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Devillee P, Tollenaar RA, Seynaeve CM, Kriege M, Figueroa J, Chanock SJ, Sherman ME, Hooning MJ, Hollestelle A, van den Ouweland AM, van Deurzen CH, Li J, Czene K, Humphreys K, Cox A, Cross SS, Reed MW, Shah M, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Swerdlow A, Ashworth A, Orr N, Schoemaker M, Couch FJ, Hallberg E, González-Neira A, Pita G, Alonso MR, Tessier DC, Vincent D, Bacot F, Bolla MK, Wang Q, Dennis J, Michailidou K, Dunning AM, Hall P, Easton D, Pharoah P, Schmidt MK, Tomlinson I, Garcia-Closas M. PLoS Genet. 2014 Apr 17;10(4): e1004285. doi: 10.1371/journal.pgen.1004285. eCollection 2014 Apr. PMID: 24743323 FACTOR DE IMPACTO: 6.661 CUARTIL: D1

14. DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers. Osorio A, Milne RL, Kuchenbaecker K, Vaclová T, Pita G, Alonso R, Peterlongo P, Blanco I, de la Hoya M, Duran M, Díez O, Ramón Y Cajal T, Konstantopoulou I, Martínez-Bouzas C, Andrés Conejero R, Soucy P, McGuffog L, Barrowdale D, Lee A, Swe-Brca, Arver B, Rantala J, Loman N, Ehrencrona H, Olopade OI, Beattie MS, Domchek SM, Nathanson K, Rebbeck TR, Arun BK, Karlan BY, Walsh C, Lester J, John EM, Whittemore AS, Daly MB, Southey M, Hopper J, Terry MB, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Ejlertsen B, Gerdes AM, Infante M, Herráez B, Moreno LT, Weitzel JN, Herzog J, Weeman K, Manoukian S, Peissel B, Zaffaroni D, Scuvera G, Bonanni B, Mariette F, Volorio S, Viel A, Varesco L, Papi L, Ottini L, Tibiletti MG, Radice P, Yannoukakos D, Garber J, Ellis S, Frost D, Platte R, Fineberg E, Evans G, Lalloo F, Izatt L, Eeles R, Adlard J, Davidson R, Cole T, Eccles D, Cook J, Hodgson S, Brewer C, Tischkowitz M, Douglas F, Porteous M, Side L, Walker L, Morrison P, Donaldson A, Kennedy J, Foo C, Godwin AK, Schmutzler RK, Wappenschmidt B, Rhiem K, Engel C, Meindl A, Ditsch N, Arnold N, Plendl HJ, Niederacher D, Sutter C, Wang-Gohrke S, Steinemann D, Preisler-Adams S, Kast K, Varon-Mateeva R, Gehrig A, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Damiola F, Poppe B, Claes K, Piedmonte M, Tucker K, Backes F, Rodríguez G, Brewster W, Wakeley K, Rutherford T, Caldés T, Nevanlinna H, Aittomäki K, Rookus MA, van Os TA, van der Kolk L, de Lange JL, Meijers-Heijboer HE, van der Hout AH, van Asperen CJ, Gómez Garcia EB, Hoogerbrugge N, Collée JM, van Deurzen CH, van der Luijt RB, Devilee P, Hebon, Olah E, Lázaro C, Teulé A, Menéndez M, Jakubowska A, Cybulski C, Gronwald J, Lubinski J, Durda K, Jaworska-Bieniek K, Johannsson OT, Maugard C, Montagna M, Tognazzo S, Teixeira MR, Healey S, Investigators K, Olswold C, Guidugli L, Lindor N, Slager S, Szabo CI, Vijai J, Robson M, Kauff N, Zhang L, Rau-Murthy R, Fink-Retter A, Singer CF, Rappaport C, Geschwantler Kaulich D, Pfeiler G, Tea MK, Berger A, Phelan CM, Greene MH, Mai PL, Lejbkowicz F, Andrulis I, Mulligan AM, Glendon G, Toland AE, Bojesen A, Pedersen IS, Sunde L, Thomassen M, Kruse TA, Jensen UB, Friedman E, Laitman Y, Shimon SP, Simard J, Easton DF, Offit K, Couch FJ, Chenevix-Trench G, Antoniou AC, Benitez J. PLoS Genet. 2014 Apr 3;10(4): e1004256. doi: 10.1371/journal.pgen.1004256. eCollection 2014 Apr. PMID:24698998 FACTOR DE IMPACTO: 6.661

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CUARTIL: D1

15. Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens: investigation in the QUASAR2 study, systematic review, and meta-analysis. Rosmarin D, Palles C, Church D, Domingo E, Jones A, Johnstone E, Wang H, Love S, Julier P, Scudder C, Nicholson G, Gonzalez-Neira A, Martin M, Sargent D, Green E, McLeod H, Zanger UM, Schwab M, Braun M, Seymour M, Thompson L, Lacas B, Boige V, Ribelles N, Afzal S, Enghusen H, Jensen SA, Etienne-Grimaldi MC, Milano G, Wadelius M, Glimelius B, Garmo H, Gusella M, Lecomte T, Laurent-Puig P, Martinez-Balibrea E, Sharma R, Garcia-Foncillas J, Kleibl Z, Morel A, Pignon JP, Midgley R, Kerr D, Tomlinson I. J Clin Oncol. 2014 Apr 1;32(10):1031-9. doi: 10.1200/JCO.2013.51.1857. Epub 2014 Mar 3. PMID:24590654 FACTOR DE IMPACTO: 20.982 CUARTIL: D1

16. A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium. Milne RL, Herranz J, Michailidou K, Dennis J, Tyrer JP, Zamora MP, Arias-Perez JI, González-Neira A, Pita G, Alonso MR, Wang Q, Bolla MK, Czene K, Eriksson M, Humphreys K, Darabi H, Li J, Anton-Culver H, Neuhausen SL, Ziogas A, Clarke CA, Hopper JL, Dite GS, Apicella C, Southey MC, Chenevix-Trench G; kConFab Investigators; Australian Ovarian Cancer Study Group, Swerdlow A, Ashworth A, Orr N, Schoemaker M, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Bojesen SE, Nordestgaard BG, Flyger H, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Wang X, Olson JE, Vachon C, Purrington K, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Dunning AM, Shah M, Guénel P, Truong T, Sanchez M, Mulot C, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Lindblom A, Margolin S, Hooning MJ, Hollestelle A, Collée JM, Jager A, Cox A, Brock IW, Reed MW, Devilee P, Tollenaar RA, Seynaeve C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Dumont M, Soucy P, Dörk T, Bogdanova NV, Hamann U, Försti A, Rüdiger T, Ulmer HU, Fasching PA, Häberle L, Ekici AB, Beckmann MW, Fletcher O, Johnson N, dos Santos Silva I, Peto J, Radice P, Peterlongo P, Peissel B, Mariani P, Giles GG, Severi G, Baglietto L, Sawyer E, Tomlinson I, Kerin M, Miller N, Marme F, Burwinkel B, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Lambrechts D, Yesilyurt BT, Floris G, Leunen K, Alnæs GG, Kristensen V, Børresen-Dale AL, García-Closas M, Chanock SJ, Lissowska J, Figueroa JD, Schmidt MK, Broeks A, Verhoef S, Rutgers EJ, Brauch H, Brüning T, Ko YD; GENICA Network, Couch FJ, Toland AE; TNBCC, Yannoukakos D, Pharoah PD, Hall P, Benítez J, Malats N, Easton DF. Hum Mol Genet. 2014 Apr 1;23(7):1934-46. doi: 10.1093/hmg/ddt581. Epub 2013 Nov 15. PMID: 24242184 FACTOR DE IMPACTO: 5.985 CUARTIL: D1

17. About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and

BRCA2 are carriers of RAD51D pathogenic variants.

9

Gutiérrez-Enríquez S, Bonache S, de Garibay GR, Osorio A, Santamariña M, Ramón y Cajal T, Esteban-Cardeñosa E, Tenés A, Yanowsky K, Barroso A, MontalbanG, Blanco A, Cornet M, Gadea, Infante M, Caldés T, Díaz-Rubio E, Balmaña J, Lasa A, Vega A, Benítez J, de la Hoya M, Diez O. Int J Cancer. 2014 May 1;134(9):2088-97. PMID: 24130102 FACTOR DE IMPACTO: 5.531 CUARTIL: Q1

18. Genetic Variation in the TP53 Pathway and Bladder Cancer Risk. A Comprehensive Analysis. Pineda S, Milne RL, Calle ML, Rothman N, López de Maturana E, Herranz J, Kogevinas M, Chanock SJ, Tardón A, Márquez M, Guey LT, García-Closas M, Lloreta J, Baum E, González-Neira A, Carrato A, Navarro A, Silverman DT, Real FX, Malats N. PLoS One. 2014 May 12;9(5): e89952. doi: 10.1371/journal.pone.0089952. eCollection 2014. PMID:24818791 FACTOR DE IMPACTO: 3.057 CUARTIL: Q1

19. Identification of genetic variants associated with capecitabine-induced hand-foot syndrome through integration of patient and cell line genomic analyses. Wheeler HE, González-Neira A, Pita G, de la Torre-Montero JC, Alonso R, Lopez-Fernandez LA, Alba E, Martín M, Dolan ME. Pharmacogenet Genomics. 2014 May;24(5):231-7. doi: 10.1097/FPC.0000000000000037. PMID:24595012 FACTOR DE IMPACTO: 2.857 CUARTIL: Q2

20. Genetic variation at CYP3A is associated with age at menarche and breast cancer

risk: a case-control study.

Johnson N, Dudbridge F, Orr N, Gibson L, Jones ME, Schoemaker MJ, Folkerd EJ, Haynes BP, Hopper JL, Southey MC, Dite GS, Apicella C, Schmidt MK, Broeks A, Van T Veer LJ, Atsma F, Muir K, Lophatananon A, Fasching PA, Beckmann MW, Ekici AB, Renner SP, Sawyer E, Tomlinson I, Kerin M, Miller N, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Guénel P, Truong T, Cordina E, Menegaux F, Bojesen SE, Nordestgaard BG, Flyger H, Milne R, Zamora MP, Arias Perez JI, Benitez J, Bernstein L, Anton-Culver H, Ziogas A, Clarke Dur C, Brenner H, Müller H, Arndt V, Dieffenbach AK, Meindl A, Heil J, Bartram CR, Schmutzler RK, Brauch H, Justenhoven C, Ko YD, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Matsuo K, Dörk T, Bogdanova NV, Antonenkova NN, Lindblom A, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Chenevix-Trench G, Beesley J, Wu AH, Van den Berg D, Tseng CC, Lambrechts D, Smeets D, Neven P, Wildiers H, Chang-Claude J, Rudolph A, Nickels S, Flesch-Janys D, Radice P, Peterlongo P, Bonanni B, Pensotti V, Couch FJ, Olson JE, Wang X, Fredericksen Z, Pankratz VS, Giles GG, Severi G, Baglietto L, Haiman C, Simard J, Goldberg MS, Labrèche F, Dumont M, Soucy P, Teo S, Yip CH, Phuah SY, Cornes BK, Kristensen VN,

10

Grenaker Alnæs G, Børresen-Dale AL, Zheng W, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Devillee P, Figueroa J, Chanock SJ, Lissowska J, Sherman ME, Hall P, Schoof N, Hooning M, Hollestelle A, Oldenburg RA, Tilanus-Linthorst M, Liu J, Cox A, Brock IW, Reed MW, Cross SS, Blot W, Signorello LB, Pharoah PD, Dunning AM, Shah M, Kang D, Noh DY, Park SK, Choi JY, Hartman M, Miao H, Lim WY, Tang A, Hamann U, Försti A, Rüdiger T, Ulmer HU, Jakubowska A, Lubinski J,Jaworska-Bieniek K, Durda K, Sangrajrang S, Gaborieau V, Brennan P, McKay J,Slager S, Toland AE, Vachon C, Yannoukakos D, Shen CY, Yu JC, Huang CS, Hou MF,González-Neira A, Tessier DC, Vincent D, Bacot F, Luccarini C, Dennis J,Michailidou K, Bolla MK, Wang J, Easton DF, García-Closas M, Dowsett M, Ashworth A, Swerdlow AJ, Peto J, Dos Santos Silva I, Fletcher O. Breast Cancer Res. 2014 May 26;16(3): R51. [Epub ahead of print]. PubMed PMID: 24887515 FACTOR DE IMPACTO: 5.211 CUARTIL: Q1

21. Identification of genetic variants associated with capecitabine-induced hand-foot

syndrome through integration of patient and cell line genomic analyses.

Wheeler HE, González-Neira A, Pita G, de la Torre-Montero JC, Alonso R, Lopez-Fernandez LA, Alba E, Martín M, Dolan ME. Pharmacogenet Genomics. 2014 May; 24(5):231-7. doi: 10.1097/FPC.0000000000000037. PMID:24595012 FACTOR DE IMPACTO: 2.857 CUARTIL: Q2

22. Genetic variation in the TP53 pathway and bladder cancer risk. a comprehensive

analysis.

Pineda S, Milne RL, Calle ML, Rothman N, López de Maturana E, Herranz J, Kogevinas M, Chanock SJ, Tardón A, Márquez M, Guey LT, García-Closas M, Lloreta J, Baum E, González- Neira A, Carrato A, Navarro A, Silverman DT, Real FX, Malats N. PLoS One. 2014 May 12;9(5): e89952. doi: 10.1371/journal.pone.0089952. eCollection 2014. PMID: 24818791 FACTOR DE IMPACTO: 3.057 CUARTIL: Q1

23. MicroRNA expression signatures for the prediction of BRCA1/2 mutation-associated

hereditary breast cancer in paraffin-embedded formalin-fixed breast tumors.

Tanic M, Yanowski K, Gómez-López G, Socorro Rodriguez-Pinilla M, Marquez-Rodas I, Osorio A, Pisano DG, Martinez-Delgado B, Benítez J. Int J Cancer. 2014 Jun 11. doi: 10.1002/ijc.29021. [Epub ahead of print]. PMID: 24917463 FACTOR DE IMPACTO: 5.531

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CUARTIL: Q1

24. Genetic variation in mitotic regulatory pathway genes is associated with breast tumor

grade.

Purrington KS, Slettedahl S, Bolla MK, Michailidou K, Czene K, Nevanlinna H, Bojesen SE, Andrulis IL, Cox A, Hall P, Carpenter J, Yannoukakos D, Haiman CA, Fasching PA, Mannermaa A, Winqvist R, Brenner H, Lindblom A, Chenevix-Trench G, Benitez J, Swerdlow A, Kristensen V, Guénel P, Meindl A, Darabi H, Eriksson M, Fagerholm R, Aittomäki K, Blomqvist C, Nordestgaard BG, Nielsen SF, Flyger H, Wang X, Olswold C, Olson JE, Mulligan AM, Knight JA, Tchatchou S, Reed MW, Cross SS, Liu J, Li J, Humphreys K, Clarke C, Scott R; ABCTB Investigators, Fostira F, Fountzilas G, Konstantopoulou I, Henderson BE, Schumacher F, Le Marchand L, Ekici AB, Hartmann A, Beckmann MW, Hartikainen JM, Kosma VM, Kataja V, Jukkola-Vuorinen A, Pylkäs K, Kauppila S, Dieffenbach AK, Stegmaier C, Arndt V, Margolin S; Australian Ovarian Cancer Study Group; kConFab Investigators, Balleine R, Arias Perez JI, Pilar Zamora M, Menéndez P, Ashworth A, Jones M, Orr N, Arveux P, Kerbrat P, Truong T, Bugert P, Toland AE, Ambrosone CB, Labrèche F, Goldberg MS, Dumont M, Ziogas A, Lee E, Dite GS, Apicella C, Southey MC, Long J, Shrubsole M, Deming-Halverson S, Ficarazzi F, Barile M, Peterlongo P, Durda K, Jaworska-Bieniek K, Tollenaar RA, Seynaeve C; The GENICA Network, Brüning T, Ko YD, Van Deurzen CH, Martens JW, Kriege M, Figueroa JD, Chanock SJ, Lissowska J, Tomlinson I, Kerin MJ, Miller N, Schneeweiss A, Tapper WJ, Gerty SM, Durcan L, Mclean C, Milne RL, Baglietto L, Dos Santos Silva I, Fletcher O, Johnson N, Van'T Veer LJ, Cornelissen S, Försti A, Torres D, Rüdiger T, Rudolph A, Flesch-Janys D, Nickels S, Weltens C, Floris G, Moisse M, Dennis J, Wang Q, Dunning AM, Shah M, Brown J, Simard J, Anton-Culver H, Neuhausen SL, Hopper JL, Bogdanova N, Dörk T, Zheng W, Radice P, Jakubowska A, Lubinski J, Devillee P, Brauch H, Hooning M, García-Closas M, Sawyer E, Burwinkel B, Marmee F, Eccles DM, Giles GG, Peto J, Schmidt M, Broeks A, Hamann U, Chang-Claude J, Lambrechts D, Pharoah PD, Easton D, Pankratz VS, Slager S, Vachon CM, Couch FJ. Hum Mol Genet. 2014 Jun 13. pii: ddu300. [Epub ahead of print]. PMID: 24927736 FACTOR DE IMPACTO: 5.985 CUARTIL: D1

25. Common non-synonymous SNPs associated with breast cancer susceptibility:

findings from the Breast Cancer Association Consortium.

Milne RL, Burwinkel B, Michailidou K, Arias-Perez JI, Zamora MP, Menéndez-Rodríguez P, Hardisson D, Mendiola M, González-Neira A, Pita G, Alonso MR, Dennis J, Wang Q, Bolla MK, Swerdlow A, Ashworth A, Orr N, Schoemaker M, Ko YD, Brauch H, Hamann U; The GENICA Network, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Investigators K; Australian Ovarian Cancer Study Group, Matsuo K, Ito H, Iwata H, Tajima K, Li J, Brand JS, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Lambrechts D, Peuteman G, Christiaens MR, Smeets A, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Hartman M, Hui M, Lim WY, Chan CW, Marme F, Yang R, Bugert P, Lindblom A, Margolin S, García-Closas M, Chanock SJ, Lissowska J, Figueroa JD, Bojesen SE, Nordestgaard BG, Flyger H, Hooning MJ, Kriege M, van den Ouweland AM, Koppert LB, Fletcher O, Johnson N, Dos-Santos-Silva I, Peto J, Zheng W, Deming-Halverson S, Shrubsole MJ, Long J, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Cox A, Cross SS, Reed MW, Schmidt MK, Broeks A, Cornelissen S, Braaf L, Kang D, Choi JY, Park SK, Noh DY, Simard J, Dumont M, Goldberg MS, Labrèche F, Fasching PA, Hein A, Ekici AB, Beckmann MW, Radice P, Peterlongo P, Azzollini J, Barile M, Sawyer E, Tomlinson I, Kerin M, Miller N, Hopper JL,

http://www.ncbi.nlm.nih.gov/pubmed/24943594


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Schmidt DF, Makalic E, Southey MC, Teo SH, Yip CH, Sivanandan K, Tay WT, Shen CY, Hsiung CN, Yu JC, Hou MF, Guénel P, Truong T, Sanchez M, Mulot C, Blot W, Cai Q, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Bogdanova N, Dörk T, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Shu XO, Lu W, Gao YT, Zhang B, Couch FJ, Toland AE; TNBCC, Yannoukakos D, Sangrajrang S, McKay J, Wang X, Olson JE, Vachon C, Purrington K, Severi G, Baglietto L, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Devilee P, Tollenaar RA, Seynaeve C, Czene K, Eriksson M, Humphreys K, Darabi H, Ahmed S, Shah M, Pharoah PD, Hall P, Giles GG, Benítez J, Dunning AM, Chenevix-Trench G, Easton DF. Hum Mol Genet. 2014 Jun 18. pii: ddu311. [Epub ahead of print]. PMID: 24943594 FACTOR DE IMPACTO: 5.985 CUARTIL: D1

26. VGLL1 expression is associated with a triple-negative basal-like phenotype in breast

cancer.

Castilla MÁ, López-García MÁ, Atienza MR, Rosa-Rosa JM, Díaz-Martín J, Pecero ML, Vieites B, Romero-Pérez L, Benítez J, Calcabrini A, Palacios J. Endocr Relat Cancer. 2014 Aug;21(4):587-99. doi: 10.1530/ERC-13-0485. Epub 2014 Jun 2. PMID: 24891455 FACTOR DE IMPACTO: 4.472 CUARTIL: Q1

27. Identification and characterization of novel associations in the CASP8/ALS2CR12

region on chromosome 2 with breast cancer risk.

Lin WY, Camp NJ, Ghoussaini M, Beesley J, Michailidou K, Hopper JL, Apicella C, Southey MC, Stone J, Schmidt MK, Broeks A, Van't Veer LJ, Th Rutgers EJ, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Peto J, Dos-Santos-Silva I, Fletcher O, Johnson N, Bolla MK, Wang Q, Dennis J, Sawyer EJ, Cheng T, Tomlinson I, Kerin MJ, Miller N, Marmé F, Surowy HM, Burwinkel B, Guénel P, Truong T, Menegaux F, Mulot C, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Benitez J, Zamora MP, Arias Perez JI, Menéndez P, González-Neira A, Pita G, Alonso MR, Alvarez N, Herrero D, Anton-Culver H, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Meindl A, Lichtner P, Schmutzler RK, Müller-Myhsok B, Brauch H, Brüning T, Ko YD; The GENICA Network, Tessier DC, Vincent D, Bacot F, Nevanlinna H, Aittomäki K, Blomqvist C, Khan S, Matsuo K, Ito H, Iwata H, Horio A, Bogdanova NV, Antonenkova NN, Dörk T, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM; kConFab Investigators; Australian Ovarian Cancer Study Group, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Neven P, Wauters E, Wildiers H, Lambrechts D, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Radice P, Peterlongo P, Manoukian S, Bonanni B, Couch FJ, Wang X, Vachon C, Purrington K, Giles GG, Milne RL, Mclean C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Goldberg MS, Labrèche F, Dumont M, Teo SH, Yip CH, Hassan N, Vithana EN, Kristensen V, Zheng W, Deming-Halverson S, Shrubsole MJ, Long J, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Kauppila S, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Devilee P, Tollenaar RA, Seynaeve C, Van Asperen CJ, García-Closas M, Figueroa J, Lissowska J, Brinton L, Czene K, Darabi H, Eriksson M, Brand JS, Hooning MJ, Hollestelle A, Van Den Ouweland AM, Jager A, Li J, Liu J, Humphreys K, Shu XO, Lu W, Gao YT, Cai H, Cross SS,



13

Reed MW, Blot W, Signorello LB, Cai Q, Pharoah PD, Perkins B, Shah M, Blows FM, Kang D, Yoo KY, Noh DY, Hartman M, Miao H, Chia KS, Putti TC, Hamann U, Luccarini C, Baynes C, Ahmed S, Maranian M, Healey CS, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Sangrajrang S, Gaborieau V, Brennan P, Mckay J, Slager S, Toland AE, Yannoukakos D, Shen CY, Hsiung CN, Wu PE, Ding SL, Ashworth A, Jones M, Orr N, Swerdlow AJ, Tsimiklis H, Makalic E, Schmidt DF, Bui QM, Chanock SJ, Hunter DJ, Hein R, Dahmen N, Beckmann L, Aaltonen K, Muranen TA, Heikkinen T, Irwanto A, Rahman N, Turnbull CA; The Breast and Ovarian Cancer Susceptibility (BOCS) Study, Waisfisz Q, Meijers-Heijboer HE, Adank MA, Van Der Luijt RB, Hall P, Chenevix-Trench G, Dunning A, Easton DF, Cox A. Hum Mol Genet. 2014 Aug 28. pii: ddu431. [Epub ahead of print]. PMID: 25168388 FACTOR DE IMPACTO: 5.985 CUARTIL: D1

28. Exome sequencing of three cases of familial exceptional longevity.

Cash TP, Pita G, Domínguez O, Alonso MR, Moreno LT, Borrás C, Rodríguez-Mañas L, Santiago C, Garatachea N, Lucia A, Avellana JA, Viña J, González-Neira A, Serrano M. Aging Cell. 2014 Aug 12. doi: 10.1111/acel.12261. PMID: 25116423 FACTOR DE IMPACTO: 5.76 CUARTIL: D1

29. Genetic association study of QT interval highlights role for calcium signaling

pathways in myocardial repolarization.

Arking DE, Pulit SL, Crotti L, van der Harst P, Munroe PB, Koopmann TT, Sotoodehnia N, Rossin EJ, Morley M, Wang X, Johnson AD, Lundby A, Gudbjartsson DF, Noseworthy PA, Eijgelsheim M, Bradford Y, Tarasov KV, Dörr M, Müller-Nurasyid M, Lahtinen AM, Nolte IM, Smith AV, Bis JC, Isaacs A, Newhouse SJ, Evans DS, Post WS, Waggott D, Lyytikäinen LP, Hicks AA, Eisele L, Ellinghaus D, Hayward C, Navarro P, Ulivi S, Tanaka T, Tester DJ, Chatel S, Gustafsson S, Kumari M, Morris RW, Naluai ÅT, Padmanabhan S, Kluttig A, Strohmer B, Panayiotou AG, Torres M, Knoflach M, Hubacek JA, Slowikowski K, Raychaudhuri S, Kumar RD, Harris TB, Launer LJ, Shuldiner AR, Alonso A, Bader JS, Ehret G, Huang H, Kao WH, Strait JB, Macfarlane PW, Brown M, Caulfield MJ, Samani NJ, Kronenberg F, Willeit J; CARe Consortium; COGENT Consortium, Smith JG, Greiser KH, Meyer Zu Schwabedissen H, Werdan K, Carella M, Zelante L, Heckbert SR, Psaty BM, Rotter JI, Kolcic I, Polašek O, Wright AF, Griffin M, Daly MJ; DCCT/EDIC, Arnar DO, Hólm H, Thorsteinsdottir U; eMERGE Consortium, Denny JC, Roden DM, Zuvich RL, Emilsson V, Plump AS, Larson MG, O'Donnell CJ, Yin X, Bobbo M, D'Adamo AP, Iorio A, Sinagra G, Carracedo A, Cummings SR, Nalls MA, Jula A, Kontula KK, Marjamaa A, Oikarinen L, Perola M, Porthan K, Erbel R, Hoffmann P, Jöckel KH, Kälsch H, Nöthen MM; HRGEN Consortium, den Hoed M, Loos RJ, Thelle DS, Gieger C, Meitinger T, Perz S, Peters A, Prucha H, Sinner MF, Waldenberger M, de Boer RA, Franke L, van der Vleuten PA, Beckmann BM, Martens E, Bardai A, Hofman N, Wilde AA, Behr ER, Dalageorgou C, Giudicessi JR, Medeiros-Domingo A, Barc J, Kyndt F, Probst V, Ghidoni A,

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Insolia R, Hamilton RM, Scherer SW, Brandimarto J, Margulies K, Moravec CE, del Greco M F, Fuchsberger C, O'Connell JR, Lee WK, Watt GC, Campbell H, Wild SH, El Mokhtari NE, Frey N, Asselbergs FW, Mateo Leach I, Navis G, van den Berg MP, van Veldhuisen DJ, Kellis M, Krijthe BP, Franco OH, Hofman A, Kors JA, Uitterlinden AG, Witteman JC, Kedenko L, Lamina C, Oostra BA, Abecasis GR, Lakatta EG, Mulas A, Orrú M, Schlessinger D, Uda M, Markus MR, Völker U, Snieder H, Spector TD, Ärnlöv J, Lind L, Sundström J, Syvänen AC, Kivimaki M, Kähönen M, Mononen N, Raitakari OT, Viikari JS, Adamkova V, Kiechl S, Brion M, Nicolaides AN, Paulweber B, Haerting J, Dominiczak AF, Nyberg F, Whincup PH, Hingorani AD, Schott JJ, Bezzina CR, Ingelsson E, Ferrucci L, Gasparini P, Wilson JF, Rudan I, Franke A, Mühleisen TW, Pramstaller PP, Lehtimäki TJ, Paterson AD, Parsa A, Liu Y, van Duijn CM, Siscovick DS, Gudnason V, Jamshidi Y, Salomaa V, Felix SB, Sanna S, Ritchie MD, Stricker BH, Stefansson K, Boyer LA, Cappola TP, Olsen JV, Lage K, Schwartz PJ, Kääb S, Chakravarti A, Ackerman MJ, Pfeufer A, de Bakker PI, Newton-Cheh C. Nat Genet. 2014 Aug;46(8):826-36. doi: 10.1038/ng.3014. Epub 2014 Jun 22. PMID: 24952745 FACTOR DE IMPACTO: 34.284 CUARTIL: D1

30. Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5

regulation.

Ghoussaini M, Edwards SL, Michailidou K, Nord S, Cowper-Sal Lari R, Desai K, Kar S, Hillman KM, Kaufmann S, Glubb DM, Beesley J, Dennis J, Bolla MK, Wang Q, Dicks E, Guo Q, Schmidt MK, Shah M, Luben R, Brown J, Czene K, Darabi H, Eriksson M, Klevebring D, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Lambrechts D, Thienpont B, Neven P, Wildiers H, Broeks A, Van't Veer LJ, Th Rutgers EJ, Couch FJ, Olson JE, Hallberg E, Vachon C, Chang- Claude J, Rudolph A, Seibold P, Flesch-Janys D, Peto J, Dos-Santos-Silva I, Gibson L, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Hall P, Li J, Liu J, Humphreys K, Kang D, Choi JY, Park SK, Noh DY, Matsuo K, Ito H, Iwata H, Yatabe Y, Guénel P, Truong T, Menegaux F, Sanchez M, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Benitez J, Zamora MP, Perez JI, Menéndez P, Shu XO, Lu W, Gao YT, Cai Q, Cox A, Cross SS, Reed MW, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Lindblom A, Margolin S, Teo SH, Yip CH, Lee DS, Wong TY, Hooning MJ, Martens JW, Collée JM, van Deurzen CH, Hopper JL, Southey MC, Tsimiklis H, Kapuscinski MK, Shen CY, Wu PE, Yu JC, Chen ST, Alnæs GG, Borresen-Dale AL, Giles GG, Milne RL, McLean C, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Hartman M, Miao H, Buhari SA, Teo YY, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Swerdlow A, Ashworth A, Orr N, Schoemaker MJ, García-Closas M, Figueroa J, Chanock SJ, Lissowska J, Simard J, Goldberg MS, Labrèche F, Dumont M, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Brauch H, Brüning T, Koto YD, Radice P, Peterlongo P, Bonanni B, Volorio S, Dörk T, Bogdanova NV, Helbig S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Devilee P, Tollenaar RA, Seynaeve C, Van Asperen CJ, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Slager S, Toland AE, Ambrosone CB, Yannoukakos D, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Hamann U, Torres D, Zheng W, Long J, Anton-Culver H, Neuhausen SL, Luccarini C, Baynes C, Ahmed S, Maranian M, Healey CS, González-Neira A, Pita G, Alonso MR, Alvarez N, Herrero D, Tessier DC, Vincent D, Bacot F, de Santiago I, Carroll J, Caldas C, Brown MA, Lupien M, Kristensen VN, Pharoah PD, Chenevix-Trench G, French JD, Easton DF, Dunning AM; Australian Ovarian Cancer

15

Management Group; Australian Ovarian Cancer Management Group. Nat Commun. 2014 Sep 23; 4:4999. doi: 10.1038/ncomms5999. PMID: 25248036 FACTOR DE IMPACTO: 11.329 CUARTIL: D1 31. Investigation of gene-environment interactions between 47 newly identified breast

cancer susceptibility loci and environmental risk factors.

Rudolph A, Milne RL, Truong T, Knight JA, Seibold P, Flesch-Janys D, Behrens S, Eilber U, Bolla MK, Wang Q, Dennis J, Dunning AM, Shah M, Munday HR, Darabi H, Eriksson M, Brand JS, Olson J, Vachon CM, Hallberg E, Castelao JE, Carracedo A, Torres M, Li J, Humphreys K, Cordina-Duverger E, Menegaux F, Flyger H, Nordestgaard BG, Nielsen SF, Yesilyurt BT, Floris G, Leunen K, Engelhardt EG, Broeks A, Rutgers EJ, Glendon G, Mulligan AM, Cross S, Reed M, Gonzalez-Neira A, Arias Perez JI, Provenzano E, Apicella C, Southey MC, Spurdle A; kConFab Investigators; AOCS Group, Häberle L, Beckmann MW, Ekici AB, Dieffenbach AK, Arndt V, Stegmaier C, McLean C, Baglietto L, Chanock SJ, Lissowska J, Sherman ME, Brüning T, Hamann U, Ko YD, Orr N, Schoemaker M, Ashworth A, Kosma VM, Kataja V, Hartikainen JM, Mannermaa A, Swerdlow A; GENICA-Network, Giles GG, Brenner H, Fasching PA, Chenevix-Trench G, Hopper J, Benítez J, Cox A, Andrulis IL, Lambrechts D, Gago-Dominguez M, Couch F, Czene K, Bojesen SE, Easton DF, Schmidt MK, Guénel P, Hall P, Pharoah PD, Garcia-Closas M, Chang-Claude J. Int J Cancer. 2014 Sep 16. doi: 10.1002/ijc.29188. [Epub ahead of print]. PMID: 25227710 FACTOR DE IMPACTO: 5.531 CUARTIL: Q1

32. Parent-of-origin-specific allelic associations among 106 genomic loci for age at

menarche.

Perry JR, Day F, Elks CE, Sulem P, Thompson DJ, Ferreira T, He C, Chasman DI, Esko T, Thorleifsson G, Albrecht E, Ang WQ, Corre T, Cousminer DL, Feenstra B, Franceschini N, Ganna A, Johnson AD, Kjellqvist S, Lunetta KL, McMahon G, Nolte IM, Paternoster L, Porcu E, Smith AV, Stolk L, Teumer A, Tšernikova N, Tikkanen E, Ulivi S, Wagner EK, Amin N, Bierut LJ, Byrne EM, Hottenga JJ, Koller DL, Mangino M, Pers TH, Yerges-Armstrong LM, Hua Zhao J, Andrulis IL, Anton-Culver H, Atsma F, Bandinelli S, Beckmann MW, Benitez J, Blomqvist C, Bojesen SE, Bolla MK, Bonanni B, Brauch H, Brenner H, Buring JE, Chang-Claude J, Chanock S, Chen J, Chenevix-Trench G, Collée JM, Couch FJ, Couper D, Coviello AD, Cox A, Czene K, D'adamo AP, Davey Smith G, De Vivo I, Demerath EW, Dennis J, Devilee P, Dieffenbach AK, Dunning AM, Eiriksdottir G, Eriksson JG, Fasching PA, Ferrucci L, Flesch-Janys D, Flyger H, Foroud T, Franke L, Garcia ME, García-Closas M, Geller F, de Geus EE, Giles GG, Gudbjartsson DF, Gudnason V, Guénel P, Guo S, Hall P, Hamann U, Haring R, Hartman CA, Heath AC, Hofman A, Hooning MJ, Hopper JL, Hu FB, Hunter DJ, Karasik D, Kiel DP, Knight JA, Kosma VM, Kutalik Z, Lai S, Lambrechts D, Lindblom A, Mägi R, Magnusson PK, Mannermaa A, Martin NG, Masson G, McArdle PF, McArdle WL, Melbye M, Michailidou K, Mihailov E, Milani L, Milne RL, Nevanlinna H, Neven P, Nohr EA, Oldehinkel AJ, Oostra BA, Palotie A, Peacock M, Pedersen NL, Peterlongo P, Peto J, Pharoah PD, Postma DS, Pouta A, Pylkäs K, Radice P, Ring S, Rivadeneira F, Robino A, Rose LM, Rudolph A, Salomaa V, Sanna

16

S, Schlessinger D, Schmidt MK, Southey MC, Sovio U, Stampfer MJ, Stöckl D, Storniolo AM, Timpson NJ, Tyrer J, Visser JA, Vollenweider P, Völzke H, Waeber G, Waldenberger M, Wallaschofski H, Wang Q, Willemsen G, Winqvist R, Wolffenbuttel BH, Wright MJ; Australian Ovarian Cancer Study; GENICA Network; kConFab; LifeLines Cohort Study; InterAct Consortium; Early Growth Genetics (EGG) Consortium, Boomsma DI, Econs MJ, Khaw KT, Loos RJ, McCarthy MI, Montgomery GW, Rice JP, Streeten EA, Thorsteinsdottir U, van Duijn CM, Alizadeh BZ, Bergmann S, Boerwinkle E, Boyd HA, Crisponi L, Gasparini P, Gieger C, Harris TB, Ingelsson E, Järvelin MR, Kraft P, Lawlor D, Metspalu A, Pennell CE, Ridker PM, Snieder H, Sørensen TI, Spector TD, Strachan DP, Uitterlinden AG, Wareham NJ, Widen E, Zygmunt M, Murray A, Easton DF, Stefansson K, Murabito JM, Ong KK. Nature. 2014 Oct 2;514(7520):92-7. doi: 10.1038/nature13545. Epub 2014 Jul 23. PubMed Central PMCID: PMC4185210. PMID: 25231870 FACTOR DE IMPACTO: 38.138 CUARTIL: D1

PUBLICACIONES 2015

1. Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three

independent risk variants regulating MAP3K1.

Glubb DM, Maranian MJ, Michailidou K, Pooley KA, Meyer KB, Kar S, Carlebur S, O'Reilly M, Betts JA, Hillman KM, Kaufmann S, Beesley J, Canisius S, Hopper JL, Southey MC, Tsimiklis H, Apicella C, Schmidt MK, Broeks A, Hogervorst FB, van der Schoot CE, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Fasching PA, Ruebner M, Ekici AB, Beckmann MW, Peto J, dos-Santos-Silva I, Fletcher O, Johnson N, Pharoah PD, Bolla MK, Wang Q, Dennis J, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Burwinkel B, Marme F, Yang R, Surowy H, Guénel P, Truong T, Menegaux F, Sanchez M, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, González-Neira A, Benitez J, Zamora MP, Arias Perez JI, Anton-Culver H, Neuhausen SL, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Meindl A, Schmutzler RK, Brauch H, Ko YD, Brüning T; GENICA Network, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Matsuo K, Ito H, Iwata H, Tanaka H, Dörk T, Bogdanova NV, Helbig S, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM; kConFab Investigators, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Lambrechts D, Zhao H, Weltens C, van Limbergen E, Chang-Claude J, Flesch-Janys D, Rudolph A, Seibold P, Radice P, Peterlongo P, Barile M, Capra F, Couch FJ, Olson JE, Hallberg E, Vachon C, Giles GG, Milne RL, McLean C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Goldberg MS, Labrèche F, Dumont M, Teo SH, Yip CH, See MH, Cornes B, Cheng CY, Ikram MK, Kristensen V; Norwegian Breast Cancer Study, Zheng W, Halverson SL, Shrubsole M, Long J, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Kauppila S, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Devilee P, Tollenaar RA, Seynaeve C, Van Asperen CJ, García-Closas M, Figueroa J, Chanock SJ, Lissowska J, Czene K, Klevebring D, Darabi H, Eriksson M, Hooning MJ, Hollestelle A, Martens JW, Collée JM, Hall P, Li J, Humphreys K, Shu XO, Lu W, Gao YT, Cai H, Cox A, Cross SS, Reed MW, Blot W, Signorello LB, Cai Q, Shah M, Ghoussaini M, Kang D, Choi JY, Park SK, Noh DY, Hartman M, Miao H, Lim WY, Tang A, Hamann U, Torres D, Jakubowska A, Lubinski J, Jaworska K, Durda K, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Olswold C, Slager S, Toland AE, Yannoukakos D, Shen CY, Wu PE, Yu JC, Hou MF, Swerdlow A, Ashworth A, Orr N, Jones M, Pita G, Alonso MR, Álvarez N, Herrero D, Tessier DC, Vincent D,



17

Bacot F, Luccarini C, Baynes C, Ahmed S, Healey CS, Brown MA, Ponder BA, Chenevix-Trench G, Thompson DJ, Edwards SL, Easton DF, Dunning AM, French JD.Am J Hum Genet. 2015 Jan 8;96(1):5-20. doi: 10.1016/j.ajhg.2014.11.009. Epub 2014 PMID: 25529635

FACTOR DE IMPACTO: 10.794 CUARTIL: D1

2. Identification and characterization of novel associations in the CASP8/ALS2CR12

region on chromosome 2 with breast cancer risk.

Lin WY, Camp NJ, Ghoussaini M, Beesley J, Michailidou K, Hopper JL, Apicella C, Southey MC, Stone J, Schmidt MK, Broeks A, Van't Veer LJ, Th Rutgers EJ, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Peto J, Dos-Santos-Silva I, Fletcher O, Johnson N, Bolla MK, Wang Q, Dennis J, Sawyer EJ, Cheng T, Tomlinson I, Kerin MJ, Miller N, Marmé F, Surowy HM, Burwinkel B, Guénel P, Truong T, Menegaux F, Mulot C, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Benitez J, Zamora MP, Arias Perez JI, Menéndez P, González-Neira A, Pita G, Alonso MR, Alvarez N, Herrero D, Anton-Culver H, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Meindl A, Lichtner P, Schmutzler RK, Müller-Myhsok B, Brauch H, Brüning T, Ko YD; GENICA Network, Tessier DC, Vincent D, Bacot F, Nevanlinna H, Aittomäki K, Blomqvist C, Khan S, Matsuo K, Ito H, Iwata H, Horio A, Bogdanova NV, Antonenkova NN, Dörk T, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM; kConFab Investigators; Australian Ovarian Cancer Study Group, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Neven P, Wauters E, Wildiers H, Lambrechts D, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Radice P, Peterlongo P, Manoukian S, Bonanni B, Couch FJ, Wang X, Vachon C, Purrington K, Giles GG, Milne RL, Mclean C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Goldberg MS, Labrèche F, Dumont M, Teo SH, Yip CH, Hassan N, Vithana EN, Kristensen V, Zheng W, Deming-Halverson S, Shrubsole MJ, Long J, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Kauppila S, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Devilee P, Tollenaar RA, Seynaeve C, Van Asperen CJ, García-Closas M, Figueroa J, Lissowska J, Brinton L, Czene K, Darabi H, Eriksson M, Brand JS, Hooning MJ, Hollestelle A, Van Den Ouweland AM, Jager A, Li J, Liu J, Humphreys K, Shu XO, Lu W, Gao YT, Cai H, Cross SS, Reed MW, Blot W, Signorello LB, Cai Q, Pharoah PD, Perkins B, Shah M, Blows FM, Kang D, Yoo KY, Noh DY, Hartman M, Miao H, Chia KS, Putti TC, Hamann U, Luccarini C, Baynes C, Ahmed S, Maranian M, Healey CS, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Sangrajrang S, Gaborieau V, Brennan P, Mckay J, Slager S, Toland AE, Yannoukakos D, Shen CY, Hsiung CN, Wu PE, Ding SL, Ashworth A, Jones M, Orr N, Swerdlow AJ, Tsimiklis H, Makalic E, Schmidt DF, Bui QM, Chanock SJ, Hunter DJ, Hein R, Dahmen N, Beckmann L, Aaltonen K, Muranen TA, Heikkinen T, Irwanto A, Rahman N, Turnbull CA; Breast and Ovarian Cancer Susceptibility (BOCS) Study, Waisfisz Q, Meijers-Heijboer HE, Adank MA, Van Der Luijt RB, Hall P, Chenevix-Trench G, Dunning A, Easton DF, Cox A. Hum Mol Genet. 2015 Jan 1;24(1):285-98. doi: 10.1093/hmg/ddu431. Epub 2014 Aug 28. PMID: 25168388




18

3. Impact of chemotherapy on telomere length in sporadic and familial breast cancer

patients.

Benitez-Buelga C, Sanchez-Barroso L, Gallardo M, Apellániz-Ruiz M, Inglada-Pérez L,

Yanowski K, Carrillo J, Garcia-Estevez L, Calvo I, Perona R, Urioste M, Osorio A, Blasco MA,

Rodriguez-Antona C, Benitez J. Breast Cancer Res Treat. 2015 Jan;149(2):385-94. doi:

10.1007/s10549-014-3246-6. Epub 2014 Dec 21.

PMID:25528024

FACTOR DE IMPACTO: 4.085

CUARTIL: Q2

4. Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2

mutation carriers.

Peterlongo P, Chang-Claude J, Moysich KB, Rudolph A, Schmutzler RK, Simard J, Soucy P,

Eeles RA, Easton DF, Hamann U, Wilkening S, Chen B, Rookus MA, Schmidt MK, van der

Baan FH, Spurdle AB, Walker LC, Lose F, Maia AT, Montagna M, Matricardi L, Lubinski J,

Jakubowska A, Gómez Garcia EB, Olopade OI, Nussbaum RL, Nathanson KL, Domchek SM,

Rebbeck TR, Arun BK, Karlan BY, Orsulic S, Lester J, Chung WK, Miron A, Southey MC,

Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Ding YC, Neuhausen SL,

Hansen TV, Gerdes AM, Ejlertsen B, Jønson L, Osorio A, Martínez-Bouzas C, Benitez J,

Conway EE, Blazer KR, Weitzel JN, Manoukian S, Peissel B, Zaffaroni D, Scuvera G, Barile M,

Ficarazzi F, Mariette F, Fortuzzi S, Viel A, Giannini G, Papi L, Martayan A, Tibiletti MG, Radice

P, Vratimos A, Fostira F, Garber JE, Donaldson A, Brewer C, Foo C, Evans DG, Frost D, Eccles

D, Brady A, Cook J, Tischkowitz M, Adlard J, Barwell J, Walker L, Izatt L, Side LE, Kennedy MJ,

Rogers MT, Porteous ME, Morrison PJ, Platte R, Davidson R, Hodgson SV, Ellis S, Cole T;

EMBRACE, Godwin AK, Claes K, Van Maerken T, Meindl A, Gehrig A, Sutter C, Engel C,

Niederacher D, Steinemann D, Plendl H, Kast K, Rhiem K, Ditsch N, Arnold N, Varon-Mateeva

R, Wappenschmidt B, Wang-Gohrke S, Bressac-de Paillerets B, Buecher B, Delnatte C,

Houdayer C, Stoppa-Lyonnet D, Damiola F, Coupier I, Barjhoux L, Venat-Bouvet L, Golmard L,

Boutry-Kryza N, Sinilnikova OM, Caron O, Pujol P, Mazoyer S, Belotti M; GEMO Study

Collaborators, Piedmonte M, Friedlander ML, Rodriguez GC, Copeland LJ, de la Hoya M,

Segura PP, Nevanlinna H, Aittomäki K, van Os TA, Meijers-Heijboer HE, van der Hout AH,

Vreeswijk MP, Hoogerbrugge N, Ausems MG, van Doorn HC, Collée JM; HEBON, Olah E, Diez

O, Blanco I, Lazaro C, Brunet J, Feliubadalo L, Cybulski C, Gronwald J, Durda K, Jaworska-

Bieniek K, Sukiennicki G, Arason A, Chiquette J, Teixeira MR, Olswold C, Couch FJ, Lindor NM,

Wang X, Szabo CI, Offit K, Corines M, Jacobs L, Robson ME, Zhang L, Joseph V, Berger A,

Singer CF, Rappaport C, Kaulich DG, Pfeiler G, Tea MK, Phelan CM, Greene MH, Mai PL,

Rennert G, Mulligan AM, Glendon G, Tchatchou S, Andrulis IL, Toland AE, Bojesen A,

Pedersen IS, Thomassen M, Jensen UB, Laitman Y, Rantala J, von Wachenfeldt A, Ehrencrona

H, Askmalm MS, Borg Å, Kuchenbaecker KB, McGuffog L, Barrowdale D, Healey S, Lee A,

Pharoah PD, Chenevix-Trench G; KConFab Investigators, Antoniou AC, Friedman E.Cancer





19

Epidemiol Biomarkers Prev. 2015 Jan;24(1):308-16. doi: 10.1158/1055-9965.EPI-14-0532.

Epub 2014 Oct 21.

PMID: 25336561


CUARTIL: Q1

5. Standard versus continuous administration of capecitabine in metastatic breast cancer

(GEICAM/2009-05): a randomized, noninferiority phase II trial with a pharmacogenetic

analysis.

Martín M, Martínez N, Ramos M, Calvo L, Lluch A, Zamora P, Muñoz M, Carrasco E, Caballero

R, García-Sáenz JÁ, Guerra E, Caronia D, Casado A, Ruíz-Borrego M, Hernando B, Chacón JI,

De la Torre-Montero JC, Jimeno MÁ, Heras L, Alonso R, De la Haba J, Pita G, Constenla M,

González-Neira A. Oncologist. 2015 Feb; 20(2):111-2. doi: 10.1634/theoncologist.2014-0379.

Epub 2015 Jan 19.

PMID:25601966


CUARTIL: Q1

6. Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal

passenger complex contribute to the susceptibility of ER-negative breast cancer.

Kabisch M, Lorenzo Bermejo J, Dünnebier T, Ying S, Michailidou K, Bolla MK, Wang Q, Dennis

J, Shah M, Perkins BJ, Czene K, Darabi H, Eriksson M, Bojesen SE, Nordestgaard BG, Nielsen

SF, Flyger H, Lambrechts D, Neven P, Peeters S, Weltens C, Couch FJ, Olson JE, Wang X,

Purrington K, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Peto J, dos-Santos-Silva

I, Johnson N, Fletcher O, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Schmidt MK,

Broeks A, Cornelissen S, Hogervorst FB, Li J, Brand JS, Humphreys K, Guénel P, Truong T,

Menegaux F, Sanchez M, Burwinkel B, Marmé F, Yang R, Bugert P, González-Neira A, Benitez

J, Pilar Zamora M, Arias Perez JI, Cox A, Cross SS, Reed MW, Andrulis IL, Knight JA, Glendon

G, Tchatchou S, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N; kConFab Investigators; Australian

Ovarian Cancer Study Group, Haiman CA, Schumacher F, Henderson BE, Le Marchand L,

Lindblom A, Margolin S, Hooning MJ, Hollestelle A, Kriege M, Koppert LB, Hopper JL, Southey

MC, Tsimiklis H, Apicella C, Slettedahl S, Toland AE, Vachon C, Yannoukakos D, Giles GG,

Milne RL, McLean C, Fasching PA, Ruebner M, Ekici AB, Beckmann MW, Brenner H,

Dieffenbach AK, Arndt V, Stegmaier C, Ashworth A, Orr N, Schoemaker MJ, Swerdlow A,

García-Closas M, Figueroa J, Chanock SJ, Lissowska J, Goldberg MS, Labrèche F, Dumont M,

Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Brauch H, Brüning T, Ko YD; GENICA

Network, Radice P, Peterlongo P, Scuvera G, Fortuzzi S, Bogdanova N, Dörk T, Mannermaa A,

Kataja V, Kosma VM, Hartikainen JM, Devilee P, Tollenaar RA, Seynaeve C, Van Asperen CJ,

Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Zheng W, Shrubsole MJ, Cai Q,

Torres D, Anton-Culver H, Kristensen V, Bacot F, Tessier DC, Vincent D, Luccarini C, Baynes






20

C, Ahmed S, Maranian M, Simard J, Chenevix-Trench G, Hall P, Pharoah PD, Dunning AM,

Easton DF, Hamann U. Carcinogenesis. 2015 Feb;36(2):256-71. doi: 10.1093/carcin/bgu326.

Epub 2015 Jan 13.

PMID:25586992


CUARTIL: Q1

7. Multi-stage genome-wide association study identifies new susceptibility locus for

testicular germ cell tumour on chromosome 3q25.

Litchfield K, Sultana R, Renwick A, Dudakia D, Seal S, Ramsay E, Powell S, Elliott A, Warren-Perry M, Eeles R, Peto J, Kote-Jarai Z, Muir K, Nsengimana J; UKTCC, Stratton MR, Easton DF, Bishop DT, Huddart RA, Rahman N, Turnbull C; UKTCC. Hum Mol Genet. 2015 Feb 15;24(4):1169-76. doi: 10.1093/hmg/ddu511. Epub 2014 Oct 3. PMID:25281660


8. Deletion at 6q24.2-26 predicts longer survival of high-grade serous epithelial ovarian

cancer patients.

Kamieniak MM, Rico D, Milne RL, Muñoz-Repeto I, Ibáñez K, Grillo MA, Domingo S, Borrego S, Cazorla A, García-Bueno JM, Hernando S, García-Donas J, Hernández-Agudo E, Y Cajal TR, Robles-Díaz L, Márquez-Rodas I, Cusidó M, Sáez R, Lacambra-Calvet C, Osorio A, Urioste M, Cigudosa JC, Paz-Ares L, Palacios J, Benítez J, García MJ. Mol Oncol. 2015 Feb;9(2):422-36. doi: 10.1016/j.molonc.2014.09.010. Epub 2014 Oct 5. PMID: 25454820


9. Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed

with epithelial ovarian cancer.

Candido-dos-Reis FJ, Song H, Goode EL, Cunningham JM, Fridley BL, Larson MC, Alsop K, Dicks E, Harrington P, Ramus SJ, de Fazio A, Mitchell G, Fereday S, Bolton KL, Gourley C, Michie C, Karlan B, Lester J, Walsh C, Cass I, Olsson H, Gore M, Benitez JJ, Garcia MJ, Andrulis I, Mulligan AM, Glendon G, Blanco I, Lazaro C, Whittemore AS, McGuire V, Sieh W, Montagna M, Alducci E, Sadetzki S, Chetrit A, Kwong A, Kjaer SK, Jensen A, Høgdall E, Neuhausen S, Nussbaum R, Daly M, Greene MH, Mai PL, Loud JT, Moysich K, Toland AE, Lambrechts D, Ellis S, Frost D, Brenton JD, Tischkowitz M, Easton DF, Antoniou A, Chenevix-Trench G, Gayther SA, Bowtell D, Pharoah PD; for EMBRACE; kConFab Investigators; Australian Ovarian Cancer Study Group.Clin Cancer Res. 2015 Feb 1;21(3):652-7. doi: 10.1158/1078-0432.CCR-14-2497. Epub 2014 Nov 14.







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PMID: 25398451


10. Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

Kuchenbaecker KB, Ramus SJ, Tyrer J, Lee A, Shen HC, Beesley J, Lawrenson K, McGuffog L, Healey S, Lee JM, Spindler TJ, Lin YG, Pejovic T, Bean Y, Li Q, Coetzee S, Hazelett D, Miron A, Southey M, Terry MB, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, Barrowdale D, Dennis J, Benitez J, Osorio A, Garcia MJ, Komenaka I, Weitzel JN, Ganschow P, Peterlongo P, Bernard L, Viel A, Bonanni B, Peissel B, Manoukian S, Radice P, Papi L, Ottini L, Fostira F, Konstantopoulou I, Garber J, Frost D, Perkins J, Platte R, Ellis S; EMBRACE, Godwin AK, Schmutzler RK, Meindl A, Engel C, Sutter C, Sinilnikova OM; GEMO Study Collaborators, Damiola F, Mazoyer S, Stoppa-Lyonnet D, Claes K, De Leeneer K, Kirk J, Rodriguez GC, Piedmonte M, O'Malley DM, de la Hoya M, Caldes T, Aittomäki K, Nevanlinna H, Collée JM, Rookus MA, Oosterwijk JC; Breast Cancer Family Registry, Tihomirova L, Tung N, Hamann U, Isaccs C, Tischkowitz M, Imyanitov EN, Caligo MA, Campbell IG, Hogervorst FB; HEBON, Olah E, Diez O, Blanco I, Brunet J, Lazaro C, Pujana MA, Jakubowska A, Gronwald J, Lubinski J, Sukiennicki G, Barkardottir RB, Plante M, Simard J, Soucy P, Montagna M, Tognazzo S, Teixeira MR; KConFab Investigators, Pankratz VS, Wang X, Lindor N, Szabo CI, Kauff N, Vijai J, Aghajanian CA, Pfeiler G, Berger A, Singer CF, Tea MK, Phelan CM, Greene MH, Mai PL, Rennert G, Mulligan AM, Tchatchou S, Andrulis IL, Glendon G, Toland AE, Jensen UB, Kruse TA, Thomassen M, Bojesen A, Zidan J, Friedman E, Laitman Y, Soller M, Liljegren A, Arver B, Einbeigi Z, Stenmark-Askmalm M, Olopade OI, Nussbaum RL, Rebbeck TR, Nathanson KL, Domchek SM, Lu KH, Karlan BY, Walsh C, Lester J; Australian Cancer Study (Ovarian Cancer Investigators); Australian Ovarian Cancer Study Group, Hein A, Ekici AB, Beckmann MW, Fasching PA, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Lambrechts S, Dicks E, Doherty JA, Wicklund KG, Rossing MA, Rudolph A, Chang-Claude J, Wang-Gohrke S, Eilber U, Moysich KB, Odunsi K, Sucheston L, Lele S, Wilkens LR, Goodman MT, Thompson PJ, Shvetsov YB, Runnebaum IB, Dürst M, Hillemanns P, Dörk T, Antonenkova N, Bogdanova N, Leminen A, Pelttari LM, Butzow R, Modugno F, Kelley JL, Edwards RP, Ness RB, du Bois A, Heitz F, Schwaab I, Harter P, Matsuo K, Hosono S, Orsulic S, Jensen A, Kjaer SK, Hogdall E, Hasmad HN, Azmi MA, Teo SH, Woo YL, Fridley BL, Goode EL, Cunningham JM, Vierkant RA, Bruinsma F, Giles GG, Liang D, Hildebrandt MA, Wu X, Levine DA, Bisogna M, Berchuck A, Iversen ES, Schildkraut JM, Concannon P, Weber RP, Cramer DW, Terry KL, Poole EM, Tworoger SS, Bandera EV, Orlow I, Olson SH, Krakstad C, Salvesen HB, Tangen IL, Bjorge L, van Altena AM, Aben KK, Kiemeney LA, Massuger LF, Kellar M, Brooks-Wilson A, Kelemen LE, Cook LS, Le ND, Cybulski C, Yang H, Lissowska J, Brinton LA, Wentzensen N, Hogdall C, Lundvall L, Nedergaard L, Baker H, Song H, Eccles D, McNeish I, Paul J, Carty K, Siddiqui N, Glasspool R, Whittemore AS, Rothstein JH, McGuire V, Sieh W, Ji BT, Zheng W, Shu XO, Gao YT, Rosen B, Risch HA, McLaughlin JR, Narod SA, Monteiro AN, Chen A, Lin HY, Permuth-Wey J, Sellers TA, Tsai YY, Chen Z, Ziogas A, Anton-Culver H, Gentry-Maharaj A, Menon U, Harrington P, Lee AW, Wu AH, Pearce CL, Coetzee G, Pike MC, Dansonka-Mieszkowska A, Timorek A, Rzepecka IK, Kupryjanczyk J, Freedman M, Noushmehr H, Easton DF, Offit K, Couch FJ, Gayther S, Pharoah PP, Antoniou AC, Chenevix-Trench G; Consortium of Investigators of Modifiers of BRCA1 and BRCA2. Nat Genet. 2015 Feb;47(2):164-71. doi: 10.1038/ng.3185. Epub 2015 Jan 12. PMID: 25581431


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11. DNA copy number profiling reveals different patterns of chromosomal instability

within colorectal cancer according to the age of onset.

Arriba M, García JL, Inglada-Pérez L, Rueda D, Osorio I, Rodríguez Y, Álvaro E, Sánchez R, Fernández T, Pérez J, Hernández JM, Benítez J, González-Sarmiento R, Urioste M, Perea J. Mol Carcinog. 2015 Mar 25. doi: 10.1002/mc.22315. PMID:25808986


12. miRNA expression profiling of formalin-fixed paraffin-embedded (FFPE) hereditary

breast tumors.

Tanić M, Yanowski K, Andrés E, Gómez-López G, Socorro MR, Pisano DG, Martinez-Delgado B, Benítez J. Genom Data. March 2015, 22;3:75-9. doi:

10.1016/j.gdata.2014.11.008. PubMed Central PMCID: PMC4535901.

PMID: 26484152


13. Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module

and breast cancer risk in BRCA1/2 mutation carriers.

Blanco I, Kuchenbaecker K, Cuadras D, Wang X, Barrowdale D, de Garibay GR, Librado P, Sánchez-Gracia A, Rozas J, Bonifaci N, McGuffog L, Pankratz VS, Islam A, Mateo F, Berenguer A, Petit A, Català I, Brunet J, Feliubadaló L, Tornero E, Benítez J, Osorio A, Ramón y Cajal T, Nevanlinna H, Aittomäki K, Arun BK, Toland AE, Karlan BY, Walsh C, Lester J, Greene MH, Mai PL, Nussbaum RL, Andrulis IL, Domchek SM, Nathanson KL, Rebbeck TR, Barkardottir RB, Jakubowska A, Lubinski J, Durda K, Jaworska-Bieniek K, Claes K, Van Maerken T, Díez O, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, de la Hoya M, Caldés T, Dunning AM, Oliver C, Fineberg E, Cook M, Peock S, McCann E, Murray A, Jacobs C, Pichert G, Lalloo F, Chu C, Dorkins H, Paterson J, Ong KR, Teixeira MR; Teixeira, Hogervorst FB, van der Hout AH, Seynaeve C, van der Luijt RB, Ligtenberg MJ, Devilee P, Wijnen JT, Rookus MA, Meijers-Heijboer HE, Blok MJ, van den Ouweland AM, Aalfs CM, Rodriguez GC, Phillips KA, Piedmonte M, Nerenstone SR, Bae-Jump VL, O'Malley DM, Ratner ES, Schmutzler RK, Wappenschmidt B, Rhiem K, Engel C, Meindl A, Ditsch N, Arnold N, Plendl HJ, Niederacher D, Sutter C, Wang-Gohrke S, Steinemann D, Preisler-Adams S, Kast K, Varon-Mateeva R, Gehrig A, Bojesen A, Pedersen IS, Sunde L, Jensen UB, Thomassen M, Kruse TA, Foretova L, Peterlongo P, Bernard L, Peissel B, Scuvera G, Manoukian S, Radice P, Ottini L, Montagna M, Agata S, Maugard C, Simard J, Soucy P, Berger A, Fink-Retter A, Singer CF, Rappaport C, Geschwantler-Kaulich D, Tea MK, Pfeiler G; BCFR, John EM, Miron A, Neuhausen SL, Terry MB, Chung WK, Daly MB, Goldgar DE, Janavicius R, Dorfling CM, van Rensburg EJ, Fostira F,





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Konstantopoulou I, Garber J, Godwin AK, Olah E, Narod SA, Rennert G, Paluch SS, Laitman Y, Friedman E; SWE-BRCA, Liljegren A, Rantala J, Stenmark-Askmalm M, Loman N, Imyanitov EN, Hamann U; kConFab Investigators, Spurdle AB, Healey S, Weitzel JN, Herzog J, Margileth D, Gorrini C, Esteller M, Gómez A, Sayols S, Vidal E, Heyn H; GEMO, Stoppa-Lyonnet D, Léoné M, Barjhoux L, Fassy-Colcombet M, de Pauw A, Lasset C, Ferrer SF, Castera L, Berthet P, Cornelis F, Bignon YJ, Damiola F, Mazoyer S, Sinilnikova OM, Maxwell CA, Vijai J, Robson M, Kauff N, Corines MJ, Villano D, Cunningham J, Lee A, Lindor N, Lázaro C, Easton DF, Offit K, Chenevix-Trench G, Couch FJ, Antoniou AC, Pujana MA. PLoS One. 2015 Apr 1;10(4): e0120020. doi: 10.1371/journal.pone.0120020. eCollection 2015. PMID: 25830658


14. Prediction of breast cancer risk based on profiling with common genetic variants.

Mavaddat N, Pharoah PD, Michailidou K, Tyrer J, Brook MN, Bolla MK, Wang Q, Dennis J, Dunning AM, Shah M, Luben R, Brown J, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Czene K, Darabi H, Eriksson M, Peto J, Dos-Santos-Silva I, Dudbridge F, Johnson N, Schmidt MK, Broeks A, Verhoef S, Rutgers EJ, Swerdlow A, Ashworth A, Orr N, Schoemaker MJ, Figueroa J, Chanock SJ, Brinton L, Lissowska J, Couch FJ, Olson JE, Vachon C, Pankratz VS, Lambrechts D, Wildiers H, Van Ongeval C, van Limbergen E, Kristensen V, Grenaker Alnæs G, Nord S, Borresen-Dale AL, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Trentham-Dietz A, Newcomb P, Titus L, Egan KM, Hunter DJ, Lindstrom S, Tamimi RM, Kraft P, Rahman N, Turnbull C, Renwick A, Seal S, Li J, Liu J, Humphreys K, Benitez J, Pilar Zamora M, Arias Perez JI, Menéndez P, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Bogdanova NV, Antonenkova NN, Dörk T, Anton-Culver H, Neuhausen SL, Ziogas A, Bernstein L, Devilee P, Tollenaar RA, Seynaeve C, van Asperen CJ, Cox A, Cross SS, Reed MW, Khusnutdinova E, Bermisheva M, Prokofyeva D, Takhirova Z, Meindl A, Schmutzler RK, Sutter C, Yang R, Schürmann P, Bremer M, Christiansen H, Park-Simon TW, Hillemanns P, Guénel P, Truong T, Menegaux F, Sanchez M, Radice P, Peterlongo P, Manoukian S, Pensotti V, Hopper JL, Tsimiklis H, Apicella C, Southey MC, Brauch H, Brüning T, Ko YD, Sigurdson AJ, Doody MM, Hamann U, Torres D, Ulmer HU, Försti A, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Andrulis IL, Knight JA, Glendon G, Marie Mulligan A, Chenevix-Trench G, Balleine R, Giles GG, Milne RL, McLean C, Lindblom A, Margolin S, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Eilber U, Wang-Gohrke S, Hooning MJ, Hollestelle A, van den Ouweland AM, Koppert LB, Carpenter J, Clarke C, Scott R, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Brenner H, Arndt V, Stegmaier C, Karina Dieffenbach A, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Offit K, Vijai J, Robson M, Rau-Murthy R, Dwek M, Swann R, Annie Perkins K, Goldberg MS, Labrèche F, Dumont M, Eccles DM, Tapper WJ, Rafiq S, John EM, Whittemore AS, Slager S, Yannoukakos D, Toland AE, Yao S, Zheng W, Halverson SL, González-Neira A, Pita G, Rosario Alonso M, Álvarez N, Herrero D, Tessier DC, Vincent D, Bacot F, Luccarini C, Baynes C, Ahmed S, Maranian M, Healey CS, Simard J, Hall P, Easton DF, Garcia-Closas M.J Natl Cancer Inst. 2015 Apr 8;107(5). pii: djv036. doi: 10.1093/jnci/djv036. Print 2015 May. PMID: 25855707



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15. Genome-wide association analysis of more than 120,000 individuals identifies 15 new

susceptibility loci for breast cancer.

Michailidou K, Beesley J, Lindstrom S, Canisius S, Dennis J, Lush MJ, Maranian MJ, Bolla MK, Wang Q, Shah M, Perkins BJ, Czene K, Eriksson M, Darabi H, Brand JS, Bojesen SE, Nordestgaard BG, Flyger H, Nielsen SF, Rahman N, Turnbull C; BOCS, Fletcher O, Peto J, Gibson L, dos-Santos-Silva I, Chang-Claude J, Flesch-Janys D, Rudolph A, Eilber U, Behrens S, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Khan S, Aaltonen K, Ahsan H, Kibriya MG, Whittemore AS, John EM, Malone KE, Gammon MD, Santella RM, Ursin G, Makalic E, Schmidt DF, Casey G, Hunter DJ, Gapstur SM, Gaudet MM, Diver WR, Haiman CA, Schumacher F, Henderson BE, Le Marchand L, Berg CD, Chanock SJ, Figueroa J, Hoover RN, Lambrechts D, Neven P, Wildiers H, van Limbergen E, Schmidt MK, Broeks A, Verhoef S, Cornelissen S, Couch FJ, Olson JE, Hallberg E, Vachon C, Waisfisz Q, Meijers-Heijboer H, Adank MA, van der Luijt RB, Li J, Liu J, Humphreys K, Kang D, Choi JY, Park SK, Yoo KY, Matsuo K, Ito H, Iwata H, Tajima K, Guénel P, Truong T, Mulot C, Sanchez M, Burwinkel B, Marme F, Surowy H, Sohn C, Wu AH, Tseng CC, Van Den Berg D, Stram DO, González-Neira A, Benitez J, Zamora MP, Perez JI, Shu XO, Lu W, Gao YT, Cai H, Cox A, Cross SS, Reed MW, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N; kConFab Investigators; AOCS Group, Lindblom A, Margolin S, Teo SH, Yip CH, Taib NA, Tan GH, Hooning MJ, Hollestelle A, Martens JW, Collée JM, Blot W, Signorello LB, Cai Q, Hopper JL, Southey MC, Tsimiklis H, Apicella C, Shen CY, Hsiung CN, Wu PE, Hou MF, Kristensen VN, Nord S, Alnaes GI; NBCS, Giles GG, Milne RL, McLean C, Canzian F, Trichopoulos D, Peeters P, Lund E, Sund M, Khaw KT, Gunter MJ, Palli D, Mortensen LM, Dossus L, Huerta JM, Meindl A, Schmutzler RK, Sutter C, Yang R, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Hartman M, Miao H, Chia KS, Chan CW, Fasching PA, Hein A, Beckmann MW, Haeberle L, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Ashworth A, Orr N, Schoemaker MJ, Swerdlow AJ, Brinton L, Garcia-Closas M, Zheng W, Halverson SL, Shrubsole M, Long J, Goldberg MS, Labrèche F, Dumont M, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Brauch H, Hamann U, Brüning T; GENICA Network, Radice P, Peterlongo P, Manoukian S, Bernard L, Bogdanova NV, Dörk T, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Devilee P, Tollenaar RA, Seynaeve C, Van Asperen CJ, Jakubowska A, Lubinski J, Jaworska K, Huzarski T, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Slager S, Toland AE, Ambrosone CB, Yannoukakos D, Kabisch M, Torres D, Neuhausen SL, Anton-Culver H, Luccarini C, Baynes C, Ahmed S, Healey CS, Tessier DC, Vincent D, Bacot F, Pita G, Alonso MR, Álvarez N, Herrero D, Simard J, Pharoah PP, Kraft P, Dunning AM, Chenevix-Trench G, Hall P, Easton DF.Nat Genet. 2015 Apr;47(4):373-80. doi: 10.1038/ng.3242. Epub 2015 Mar 9. PMID: 25751625


16. An original phylogenetic approach identified mitochondrial haplogroup T1a1 as

inversely associated with breast cancer risk in BRCA2 mutation carriers.

Blein S, Bardel C, Danjean V, McGuffog L, Healey S, Barrowdale D, Lee A, Dennis J, Kuchenbaecker KB, Soucy P, Terry MB, Chung WK, Goldgar DE, Buys SS; Breast Cancer Family Registry, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Gerdes AM, Ejlertsen B, Nielsen FC, Hansen TV, Osorio A, Benitez J, Conejero RA, Segota E, Weitzel JN, Thelander M, Peterlongo P, Radice P, Pensotti V, Dolcetti R, Bonanni B, Peissel B, Zaffaroni D, Scuvera G, Manoukian S, Varesco L, Capone GL, Papi L, Ottini L, Yannoukakos D, Konstantopoulou I, Garber J, Hamann U, Donaldson A, Brady A,





25

Brewer C, Foo C, Evans DG, Frost D, Eccles D; EMBRACE, Douglas F, Cook J, Adlard J, Barwell J, Walker L, Izatt L, Side LE, Kennedy MJ, Tischkowitz M, Rogers MT, Porteous ME, Morrison PJ, Platte R, Eeles R, Davidson R, Hodgson S, Cole T, Godwin AK, Isaacs C, Claes K, De Leeneer K, Meindl A, Gehrig A, Wappenschmidt B, Sutter C, Engel C, Niederacher D, Steinemann D, Plendl H, Kast K, Rhiem K, Ditsch N, Arnold N, Varon-Mateeva R, Schmutzler RK, Preisler-Adams S, Markov NB, Wang-Gohrke S, de Pauw A, Lefol C, Lasset C, Leroux D, Rouleau E, Damiola F; GEMO Study Collaborators, Dreyfus H, Barjhoux L, Golmard L, Uhrhammer N, Bonadona V, Sornin V, Bignon YJ, Carter J, Van Le L, Piedmonte M, DiSilvestro PA, de la Hoya M, Caldes T, Nevanlinna H, Aittomäki K, Jager A, van den Ouweland AM, Kets CM, Aalfs CM, van Leeuwen FE, Hogervorst FB, Meijers-Heijboer HE; HEBON, Oosterwijk JC, van Roozendaal KE, Rookus MA, Devilee P, van der Luijt RB, Olah E, Diez O, Teulé A, Lazaro C, Blanco I, Del Valle J, Jakubowska A, Sukiennicki G, Gronwald J, Lubinski J, Durda K, Jaworska-Bieniek K, Agnarsson BA, Maugard C, Amadori A, Montagna M, Teixeira MR, Spurdle AB, Foulkes W, Olswold C, Lindor NM, Pankratz VS, Szabo CI, Lincoln A, Jacobs L, Corines M, Robson M, Vijai J, Berger A, Fink-Retter A, Singer CF, Rappaport C, Kaulich DG, Pfeiler G, Tea MK, Greene MH, Mai PL, Rennert G, Imyanitov EN, Mulligan AM, Glendon G, Andrulis IL, Tchatchou S, Toland AE, Pedersen IS, Thomassen M, Kruse TA, Jensen UB, Caligo MA, Friedman E, Zidan J, Laitman Y, Lindblom A, Melin B, Arver B, Loman N, Rosenquist R, Olopade OI, Nussbaum RL, Ramus SJ, Nathanson KL, Domchek SM, Rebbeck TR, Arun BK, Mitchell G, Karlan BY, Lester J, Orsulic S, Stoppa-Lyonnet D, Thomas G, Simard J, Couch FJ, Offit K, Easton DF, Chenevix-Trench G, Antoniou AC, Mazoyer S, Phelan CM, Sinilnikova OM, Cox DG.Breast Cancer Res. 2015 Apr 25;17:61. doi: 10.1186/s13058-015-0567-2. PMID: 25925750


17. Common germline polymorphisms associated with breast cancer-specific survival.

Pirie A, Guo Q, Kraft P, Canisius S, Eccles DM, Rahman N, Nevanlinna H, Chen C, Khan S, Tyrer J, Bolla MK, Wang Q, Dennis J, Michailidou K, Lush M, Dunning AM, Shah M, Czene K, Darabi H, Eriksson M, Lambrechts D, Weltens C, Leunen K, van Ongeval C, Nordestgaard BG, Nielsen SF, Flyger H, Rudolph A, Seibold P, Flesch-Janys D, Blomqvist C, Aittomäki K, Fagerholm R, Muranen TA, Olsen JE, Hallberg E, Vachon C, Knight JA, Glendon G, Mulligan AM, Broeks A, Cornelissen S, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Hopper JL, Tsimiklis H, Apicella C, Southey MC, Cross SS, Reed MW, Giles GG, Milne RL, McLean C, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Hooning MJ, Hollestelle A, Martens JW, van den Ouweland AM, Marme F, Schneeweiss A, Yang R, Burwinkel B, Figueroa J, Chanock SJ, Lissowska J, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Brenner H, Butterbach K, Holleczek B, Kataja V, Kosma VM, Hartikainen JM, Li J, Brand JS, Humphreys K, Devilee P, Tollenaar RA, Seynaeve C, Radice P, Peterlongo P, Manoukian S, Ficarazzi F, Beckmann MW, Hein A, Ekici AB, Balleine R, Phillips KA; kConFab Investigators, Benitez J, Zamora MP, Perez JI, Menéndez P, Jakubowska A, Lubinski J, Gronwald J, Durda K, Hamann U, Kabisch M, Ulmer HU, Rüdiger T, Margolin S, Kristensen V, Nord S; NBCS Investigators, Evans DG, Abraham J, Earl H, Poole CJ, Hiller L, Dunn JA, Bowden S, Yang R, Campa D, Diver WR, Gapstur SM, Gaudet MM, Hankinson S, Hoover RN, Hüsing A, Kaaks R, Machiela MJ, Willett W, Barrdahl M, Canzian F, Chin SF, Caldas C, Hunter DJ, Lindstrom S, Garcia-Closas M, Couch FJ, Chenevix-Trench G, Mannermaa A, Andrulis IL, Hall P, Chang-Claude J, Easton DF, Bojesen SE, Cox A, Fasching PA, Pharoah PD, Schmidt MK. Breast Cancer Res. 2015 Apr 22;17:58. doi: 10.1186/s13058-015-0570-7.


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PMID: 25897948


18. Genome-wide association analysis of more than 120,000 individuals identifies 15 new

susceptibility loci for breast cancer.

Michailidou K, Beesley J, Lindstrom S, Canisius S, Dennis J, Lush MJ, Maranian MJ, Bolla MK, Wang Q, Shah M, Perkins BJ, Czene K, Eriksson M, Darabi H, Brand JS, Bojesen SE, Nordestgaard BG, Flyger H, Nielsen SF, Rahman N, Turnbull C; BOCS, Fletcher O, Peto J, Gibson L, dos-Santos-Silva I, Chang-Claude J, Flesch-Janys D, Rudolph A, Eilber U, Behrens S, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Khan S, Aaltonen K, Ahsan H, Kibriya MG, Whittemore AS, John EM, Malone KE, Gammon MD, Santella RM, Ursin G, Makalic E, Schmidt DF, Casey G, Hunter DJ, Gapstur SM, Gaudet MM, Diver WR, Haiman CA, Schumacher F, Henderson BE, Le Marchand L, Berg CD, Chanock SJ, Figueroa J, Hoover RN, Lambrechts D, Neven P, Wildiers H, van Limbergen E, Schmidt MK, Broeks A, Verhoef S, Cornelissen S, Couch FJ, Olson JE, Hallberg E, Vachon C, Waisfisz Q, Meijers-Heijboer H, Adank MA, van der Luijt RB, Li J, Liu J, Humphreys K, Kang D, Choi JY, Park SK, Yoo KY, Matsuo K, Ito H, Iwata H, Tajima K, Guénel P, Truong T, Mulot C, Sanchez M, Burwinkel B, Marme F, Surowy H, Sohn C, Wu AH, Tseng CC, Van Den Berg D, Stram DO, González-Neira A, Benitez J, Zamora MP, Perez JI, Shu XO, Lu W, Gao YT, Cai H, Cox A, Cross SS, Reed MW, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N; kConFab Investigators; AOCS Group, Lindblom A, Margolin S, Teo SH, Yip CH, Taib NA, Tan GH, Hooning MJ, Hollestelle A, Martens JW, Collée JM, Blot W, Signorello LB, Cai Q, Hopper JL, Southey MC, Tsimiklis H, Apicella C, Shen CY, Hsiung CN, Wu PE, Hou MF, Kristensen VN, Nord S, Alnaes GI; NBCS, Giles GG, Milne RL, McLean C, Canzian F, Trichopoulos D, Peeters P, Lund E, Sund M, Khaw KT, Gunter MJ, Palli D, Mortensen LM, Dossus L, Huerta JM, Meindl A, Schmutzler RK, Sutter C, Yang R, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Hartman M, Miao H, Chia KS, Chan CW, Fasching PA, Hein A, Beckmann MW, Haeberle L, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Ashworth A, Orr N, Schoemaker MJ, Swerdlow AJ, Brinton L, Garcia-Closas M, Zheng W, Halverson SL, Shrubsole M, Long J, Goldberg MS, Labrèche F, Dumont M, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Brauch H, Hamann U, Brüning T; GENICA Network, Radice P, Peterlongo P, Manoukian S, Bernard L, Bogdanova NV, Dörk T, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Devilee P, Tollenaar RA, Seynaeve C, Van Asperen CJ, Jakubowska A, Lubinski J, Jaworska K, Huzarski T, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Slager S, Toland AE, Ambrosone CB, Yannoukakos D, Kabisch M, Torres D, Neuhausen SL, Anton-Culver H, Luccarini C, Baynes C, Ahmed S, Healey CS, Tessier DC, Vincent D, Bacot F, Pita G, Alonso MR, Álvarez N, Herrero D, Simard J, Pharoah PP, Kraft P, Dunning AM, Chenevix-Trench G, Hall P, Easton DF. Nat Genet. 2015 Apr;47(4):373-80. doi: 10.1038/ng.3242. Epub 2015 Mar 9. PMID:25751625


19. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast

and ovarian cancer.





27

Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, Mazoyer S, Chenevix-

Trench G, Easton DF, Antoniou AC, Nathanson KL; CIMBA Consortium, Laitman Y, Kushnir A,

Paluch-Shimon S, Berger R, Zidan J, Friedman E, Ehrencrona H, Stenmark-Askmalm M,

Einbeigi Z, Loman N, Harbst K, Rantala J, Melin B, Huo D, Olopade OI, Seldon J, Ganz PA,

Nussbaum RL, Chan SB, Odunsi K, Gayther SA, Domchek SM, Arun BK, Lu KH, Mitchell G,

Karlan BY, Walsh C, Lester J, Godwin AK, Pathak H, Ross E, Daly MB, Whittemore AS, John

EM, Miron A, Terry MB, Chung WK, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N,

Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Ejlertsen B, Gerdes AM,

Hansen Tv, Ramón y Cajal T, Osorio A, Benitez J, Godino J, Tejada MI, Duran M, Weitzel JN,

Bobolis KA, Sand SR, Fontaine A, Savarese A, Pasini B, Peissel B, Bonanni B, Zaffaroni D,

Vignolo-Lutati F, Scuvera G, Giannini G, Bernard L, Genuardi M, Radice P, Dolcetti R,

Manoukian S, Pensotti V, Gismondi V, Yannoukakos D, Fostira F, Garber J, Torres D, Rashid

MU, Hamann U, Peock S, Frost D, Platte R, Evans DG, Eeles R, Davidson R, Eccles D, Cole T,

Cook J, Brewer C, Hodgson S, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Izatt L,

Adlard J, Donaldson A, Ellis S, Sharma P, Schmutzler RK, Wappenschmidt B, Becker A, Rhiem

K, Hahnen E, Engel C, Meindl A, Engert S, Ditsch N, Arnold N, Plendl HJ, Mundhenke C,

Niederacher D, Fleisch M, Sutter C, Bartram CR, Dikow N, Wang-Gohrke S, Gadzicki D,

Steinemann D, Kast K, Beer M, Varon-Mateeva R, Gehrig A, Weber BH, Stoppa-Lyonnet D,

Sinilnikova OM, Mazoyer S, Houdayer C, Belotti M, Gauthier-Villars M, Damiola F, Boutry-Kryza

N, Lasset C, Sobol H, Peyrat JP, Muller D, Fricker JP, Collonge-Rame MA, Mortemousque I,

Nogues C, Rouleau E, Isaacs C, De Paepe A, Poppe B, Claes K, De Leeneer K, Piedmonte M,

Rodriguez G, Wakely K, Boggess J, Blank SV, Basil J, Azodi M, Phillips KA, Caldes T, de la

Hoya M, Romero A, Nevanlinna H, Aittomäki K, van der Hout AH, Hogervorst FB, Verhoef S,

Collée JM, Seynaeve C, Oosterwijk JC, Gille JJ, Wijnen JT, Gómez Garcia EB, Kets CM,

Ausems MG, Aalfs CM, Devilee P, Mensenkamp AR, Kwong A, Olah E, Papp J, Diez O, Lazaro

C, Darder E, Blanco I, Salinas M, Jakubowska A, Lubinski J, Gronwald J, Jaworska-Bieniek K,

Durda K, Sukiennicki G, Huzarski T, Byrski T, Cybulski C, Toloczko-Grabarek A, Złowocka-

Perłowska E, Menkiszak J, Arason A, Barkardottir RB, Simard J, Laframboise R, Montagna M,

Agata S, Alducci E, Peixoto A, Teixeira MR, Spurdle AB, Lee MH, Park SK, Kim SW, Friebel

TM, Couch FJ, Lindor NM, Pankratz VS, Guidugli L, Wang X, Tischkowitz M, Foretova L, Vijai J,

Offit K, Robson M, Rau-Murthy R, Kauff N, Fink-Retter A, Singer CF, Rappaport C,

Gschwantler-Kaulich D, Pfeiler G, Tea MK, Berger A, Greene MH, Mai PL, Imyanitov EN,

Toland AE, Senter L, Bojesen A, Pedersen IS, Skytte AB, Sunde L, Thomassen M, Moeller ST,

Kruse TA, Jensen UB, Caligo MA, Aretini P, Teo SH, Selkirk CG, Hulick PJ, Andrulis I. JAMA.

2015 Apr 7;313(13):1347-61. doi: 10.1001/jama.2014.5985. Erratum in: JAMA. 2015 Aug

11;314(6):628.

PMID: 25849179


CUARTIL: Q1

20. Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I

gastric neuroendocrine tumour.





28

Calvete O, Reyes J, Zuñiga S, Paumard-Hernández B, Fernández V, Bujanda L, Rodriguez-Pinilla MS, Palacios J, Heine-Suñer D, Banka S, Newman WG, Cañamero M, Pritchard DM, Benítez J. Hum Mol Genet. 2015 May 15;24(10):2914-22. doi: 10.1093/hmg/ddv054. Epub 2015 Feb 11. PMID: 25678551


21. Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.

Orr N, Dudbridge F, Dryden N, Maguire S, Novo D, Perrakis E, Johnson N, Ghoussaini M, Hopper JL, Southey MC, Apicella C, Stone J, Schmidt MK, Broeks A, Van't Veer LJ, Hogervorst FB, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Gibson L, Aitken Z, Warren H, Sawyer E, Tomlinson I, Kerin MJ, Miller N, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Guénel P, Truong T, Cordina-Duverger E, Sanchez M, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Benitez J, Zamora MP, Arias Perez JI, Menéndez P, Anton-Culver H, Neuhausen SL, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Hamann U, Brauch H, Justenhoven C, Brüning T, Ko YD, Nevanlinna H, Aittomäki K, Blomqvist C, Khan S, Bogdanova N, Dörk T, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Chenevix-Trench G, Beesley J, Lambrechts D, Moisse M, Floris G, Beuselinck B, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Radice P, Peterlongo P, Peissel B, Pensotti V, Couch FJ, Olson JE, Slettedahl S, Vachon C, Giles GG, Milne RL, McLean C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Goldberg MS, Labrèche F, Dumont M, Kristensen V, Alnæs GG, Nord S, Borresen-Dale AL, Zheng W, Deming-Halverson S, Shrubsole M, Long J, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Devilee P, Tollenaar RA, Seynaeve CM, Van Asperen CJ, Garcia-Closas M, Figueroa J, Chanock SJ, Lissowska J, Czene K, Darabi H, Eriksson M, Klevebring D, Hooning MJ, Hollestelle A, van Deurzen CH, Kriege M, Hall P, Li J, Liu J, Humphreys K, Cox A, Cross SS, Reed MW, Pharoah PD, Dunning AM, Shah M, Perkins BJ, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Ashworth A, Swerdlow A, Jones M, Schoemaker MJ, Meindl A, Schmutzler RK, Olswold C, Slager S, Toland AE, Yannoukakos D, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Matsuo K, Ito H, Iwata H, Ishiguro J, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Teo SH, Yip CH, Kang P, Ikram MK, Shu XO, Lu W, Gao YT, Cai H, Kang D, Choi JY, Park SK, Noh DY, Hartman M, Miao H, Lim WY, Lee SC, Sangrajrang S, Gaborieau V, Brennan P, Mckay J, Wu PE, Hou MF, Yu JC, Shen CY, Blot W, Cai Q, Signorello LB, Luccarini C, Bayes C, Ahmed S, Maranian M, Healey CS, González-Neira A, Pita G, Alonso MR, Álvarez N, Herrero D, Tessier DC, Vincent D, Bacot F, Hunter DJ, Lindstrom S, Dennis J, Michailidou K, Bolla MK, Easton DF, dos Santos Silva I, Fletcher O, Peto J; GENICA Network; kConFab Investigators; Australian Ovarian Cancer Study Group.Hum Mol Genet. 2015 May 15;24(10):2966-84. doi: 10.1093/hmg/ddv035. Epub 2015 Feb 4. PMID: 25652398


22. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, and Consortium of Modifiers of BRCA1 and BRCA2, Hollestelle A, van der Baan FH, Berchuck A,



29

Johnatty SE, Aben KK, Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, Anton-Culver H, Antonenkova NN, Antoniou AC, Apicella C, Arndt V, Arnold N, Arun BK, Arver B, Ashworth A; Australian Ovarian Cancer Study Group, Baglietto L, Balleine R, Bandera EV, Barrowdale D, Bean YT, Beckmann L, Beckmann MW, Benitez J, Berger A, Berger R, Beuselinck B, Bisogna M, Bjorge L, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Brand JS, Brauch H; Breast Cancer Family Register, Brenner H, Brinton L, Brooks-Wilson A, Bruinsma F, Brunet J, Brüning T, Budzilowska A, Bunker CH, Burwinkel B, Butzow R, Buys SS, Caligo MA, Campbell I, Carter J, Chang-Claude J, Chanock SJ, Claes KB, Collée JM, Cook LS, Couch FJ, Cox A, Cramer D, Cross SS, Cunningham JM, Cybulski C, Czene K, Damiola F, Dansonka-Mieszkowska A, Darabi H, de la Hoya M, deFazio A, Dennis J, Devilee P, Dicks EM, Diez O, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Silva ID, du Bois A, Dumont M, Dunning AM, Duran M, Easton DF, Eccles D, Edwards RP, Ehrencrona H, Ejlertsen B, Ekici AB, Ellis SD; EMBRACE, Engel C, Eriksson M, Fasching PA, Feliubadalo L, Figueroa J, Flesch-Janys D, Fletcher O, Fontaine A, Fortuzzi S, Fostira F, Fridley BL, Friebel T, Friedman E, Friel G, Frost D, Garber J, García-Closas M, Gayther SA; GEMO Study Collaborators; GENICA Network, Gentry-Maharaj A, Gerdes AM, Giles GG, Glasspool R, Glendon G, Godwin AK, Goodman MT, Gore M, Greene MH, Grip M, Gronwald J, Gschwantler Kaulich D, Guénel P, Guzman SR, Haeberle L, Haiman CA, Hall P, Halverson SL, Hamann U, Hansen TV, Harter P, Hartikainen JM, Healey S; HEBON, Hein A, Heitz F, Henderson BE, Herzog J, T Hildebrandt MA, Høgdall CK, Høgdall E, Hogervorst FB, Hopper JL, Humphreys K, Huzarski T, Imyanitov EN, Isaacs C, Jakubowska A, Janavicius R, Jaworska K, Jensen A, Jensen UB, Johnson N, Jukkola-Vuorinen A, Kabisch M, Karlan BY, Kataja V, Kauff N; KConFab Investigators, Kelemen LE, Kerin MJ, Kiemeney LA, Kjaer SK, Knight JA, Knol-Bout JP, Konstantopoulou I, Kosma VM, Krakstad C, Kristensen V, Kuchenbaecker KB, Kupryjanczyk J, Laitman Y, Lambrechts D, Lambrechts S, Larson MC, Lasa A, Laurent-Puig P, Lazaro C, Le ND, Le Marchand L, Leminen A, Lester J, Levine DA, Li J, Liang D, Lindblom A, Lindor N, Lissowska J, Long J, Lu KH, Lubinski J, Lundvall L, Lurie G, Mai PL, Mannermaa A, Margolin S, Mariette F, Marme F, Martens JW, Massuger LF, Maugard C, Mazoyer S, McGuffog L, McGuire V, McLean C, McNeish I, Meindl A, Menegaux F, Menéndez P, Menkiszak J, Menon U, Mensenkamp AR, Miller N, Milne RL, Modugno F, Montagna M, Moysich KB, Müller H, Mulligan AM, Muranen TA, Narod SA, Nathanson KL, Ness RB, Neuhausen SL, Nevanlinna H, Neven P, Nielsen FC, Nielsen SF, Nordestgaard BG, Nussbaum RL, Odunsi K, Offit K, Olah E, Olopade OI, Olson JE, Olson SH, Oosterwijk JC, Orlow I, Orr N, Orsulic S, Osorio A, Ottini L, Paul J, Pearce CL, Pedersen IS, Peissel B, Pejovic T, Pelttari LM, Perkins J, Permuth-Wey J, Peterlongo P, Peto J, Phelan CM, Phillips KA, Piedmonte M, Pike MC, Platte R, Plisiecka-Halasa J, Poole EM, Poppe B, Pylkäs K, Radice P, Ramus SJ, Rebbeck TR, Reed MW, Rennert G, Risch HA, Robson M, Rodriguez GC, Romero A, Rossing MA, Rothstein JH, Rudolph A, Runnebaum I, Salani R, Salvesen HB, Sawyer EJ, Schildkraut JM, Schmidt MK, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schrauder MG, Schumacher F, Schwaab I, Scuvera G, Sellers TA, Severi G, Seynaeve CM, Shah M, Shrubsole M, Siddiqui N, Sieh W, Simard J, Singer CF, Sinilnikova OM, Smeets D, Sohn C, Soller M, Song H, Soucy P, Southey MC, Stegmaier C, Stoppa-Lyonnet D, Sucheston L; SWE-BRCA, Swerdlow A, Tangen IL, Tea MK, Teixeira MR, Terry KL, Terry MB, Thomassen M, Thompson PJ, Tihomirova L, Tischkowitz M, Toland AE, Tollenaar RA, Tomlinson I, Torres D, Truong T, Tsimiklis H, Tung N, Tworoger SS, Tyrer JP, Vachon CM, Van 't Veer LJ, van Altena AM, Van Asperen CJ, van den Berg D, van den Ouweland AM, van Doorn HC, Van Nieuwenhuysen E, van Rensburg EJ, Vergote I, Verhoef S, Vierkant RA, Vijai J, Vitonis AF, von Wachenfeldt A, Walsh C, Wang Q, Wang-Gohrke S, Wappenschmidt B, Weischer M, Weitzel JN, Weltens C, Wentzensen N, Whittemore AS, Wilkens LR, Winqvist R, Wu AH, Wu X, Yang HP, Zaffaroni D, Pilar Zamora M, Zheng W, Ziogas A, Chenevix-Trench G, Pharoah PD, Rookus MA, Hooning MJ, Goode EL. Gynecol Oncol. 2015 May 2. pii: S0090-8258(15)00863-X. doi: 10.1016/j.ygyno.2015.04.034. PMID: 25940428

30


23. Crowdsourcing the General Public for Large Scale Molecular Pathology Studies in

Cancer.

Candido Dos Reis FJ, Lynn S, Ali HR, Eccles D, Hanby A, Provenzano E, Caldas C, Howat WJ, McDuffus LA, Liu B, Daley F, Coulson P, Vyas RJ, Harris LM, Owens JM, Carton AF, McQuillan JP, Paterson AM, Hirji Z, Christie SK, Holmes AR, Schmidt MK, Garcia-Closas M, Easton DF, Bolla MK, Wang Q, Benitez J, Milne RL, Mannermaa A, Couch F, Devilee P, Tollenaar RA, Seynaeve C, Cox A, Cross SS, Blows FM, Sanders J, de Groot R, Figueroa J, Sherman M, Hooning M, Brenner H, Holleczek B, Stegmaier C, Lintott C, Pharoah PD. EBioMedicine. 2015 May 9;2(7):681-9. doi: 10.1016/j.ebiom.2015.05.009. eCollection 2015 Jul. PMID: 26288840 FACTOR DE IMPACTO: 1.304 CUARTIL: Q1

24. Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.

Orr N, Dudbridge F, Dryden N, Maguire S, Novo D, Perrakis E, Johnson N, Ghoussaini M, Hopper JL, Southey MC, Apicella C, Stone J, Schmidt MK, Broeks A, Van't Veer LJ, Hogervorst FB, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Gibson L, Aitken Z, Warren H, Sawyer E, Tomlinson I, Kerin MJ, Miller N, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Guénel P, Truong T, Cordina-Duverger E, Sanchez M, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Benitez J, Zamora MP, Arias Perez JI, Menéndez P, Anton-Culver H, Neuhausen SL, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Hamann U, Brauch H, Justenhoven C, Brüning T, Ko YD, Nevanlinna H, Aittomäki K, Blomqvist C, Khan S, Bogdanova N, Dörk T, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Chenevix-Trench G, Beesley J, Lambrechts D, Moisse M, Floris G, Beuselinck B, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Radice P, Peterlongo P, Peissel B, Pensotti V, Couch FJ, Olson JE, Slettedahl S, Vachon C, Giles GG, Milne RL, McLean C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Goldberg MS, Labrèche F, Dumont M, Kristensen V, Alnæs GG, Nord S, Borresen-Dale AL, Zheng W, Deming-Halverson S, Shrubsole M, Long J, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Devilee P, Tollenaar RA, Seynaeve CM, Van Asperen CJ, Garcia-Closas M, Figueroa J, Chanock SJ, Lissowska J, Czene K, Darabi H, Eriksson M, Klevebring D, Hooning MJ, Hollestelle A, van Deurzen CH, Kriege M, Hall P, Li J, Liu J, Humphreys K, Cox A, Cross SS, Reed MW, Pharoah PD, Dunning AM, Shah M, Perkins BJ, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Ashworth A, Swerdlow A, Jones M, Schoemaker MJ, Meindl A, Schmutzler RK, Olswold C, Slager S, Toland AE, Yannoukakos D, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Matsuo K, Ito H, Iwata H, Ishiguro J, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Teo SH, Yip CH, Kang P, Ikram MK, Shu XO, Lu W, Gao YT, Cai H, Kang D, Choi JY, Park SK, Noh DY, Hartman M, Miao H, Lim WY, Lee SC, Sangrajrang S, Gaborieau V, Brennan P, Mckay J, Wu PE, Hou MF, Yu JC, Shen CY, Blot W, Cai Q, Signorello LB, Luccarini C, Bayes C, Ahmed S, Maranian M, Healey CS, González-Neira A, Pita G, Alonso MR, Álvarez N, Herrero D, Tessier DC, Vincent D, Bacot F, Hunter DJ, Lindstrom S, Dennis J, Michailidou K, Bolla MK, Easton DF, dos Santos Silva I, Fletcher O, Peto J; GENICA Network; kConFab Investigators; Australian Ovarian Cancer Study Group.Hum Mol Genet. 2015 May 15;24(10):2966-84. doi: 10.1093/hmg/ddv035. Epub 2015 Feb 4.




31

PMID: 25652398 FACTOR DE IMPACTO: 6.393 CUARTIL: D1

25. Genome wide association study identifies a novel putative mammographic density

locus at 1q12-q21.

Fernandez-Navarro P, González-Neira A, Pita G, Díaz-Uriarte R, Tais Moreno L, Ederra M, Pedraz-Pingarrón C, Sánchez-Contador C, Vázquez-Carrete JA, Moreo P, Vidal C, Salas-Trejo D, Stone J, Southey MC, Hopper JL, Pérez-Gómez B, Benitez J, Pollan M. Int J Cancer. 2015 May 15;136(10):2427-36. doi: 10.1002/ijc.29299. Epub 2014 Nov 10. PMID: 25353672 FACTOR DE IMPACTO: 5.531 CUARTIL: Q1

26. Genome-wide linkage analysis and tumoral characterization reveal heterogeneity in

familial colorectal cancer type X.

Sánchez-Tomé E, Rivera B, Perea J, Pita G, Rueda D, Mercadillo F, Canal A, Gonzalez-Neira A, Benitez J, Urioste M. J Gastroenterol. 2015 Jun; 50(6):657-66. doi: 10.1007/s00535-014-1009-0. Epub 2014 Nov 9. PMID: 25381643 FACTOR DE IMPACTO: 4.414 CUARTIL: Q1

27. Classifying early-onset colorectal cancer according to tumor location: new potential

subcategories to explore.

Perea J, Cano JM, Rueda D, García JL, Inglada L, Osorio I, Arriba M, Pérez J, Gaspar M, Fernández-Miguel T, Rodríguez Y, Benítez J, González-Sarmiento R, Urioste M. Am J Cancer Res. 2015 Jun 15;5(7):2308-13. eCollection 2015. PMID: 26328262 FACTOR DE IMPACTO: 4.425 CUARTIL: Q2

28. DNA repair capacity is impaired in healthy BRCA1 heterozygous mutation carriers.

Vaclová T, Gómez-López G, Setién F, Bueno JM, Macías JA, Barroso A, Urioste M, Esteller M,

Benítez J, Osorio A. Breast Cancer Res Treat. 2015 Jul;152(2):271-82. doi: 10.1007/s10549-

015-3459-3. Epub 2015 Jun 14.

PMID: 26071757






32


CUARTIL: Q2

29. Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus

Regulate NRBF2 Expression.

Darabi H, McCue K, Beesley J, Michailidou K, Nord S, Kar S, Humphreys K, Thompson D,

Ghoussaini M, Bolla MK, Dennis J, Wang Q, Canisius S, Scott CG, Apicella C, Hopper JL,

Southey MC, Stone J, Broeks A, Schmidt MK, Scott RJ, Lophatananon A, Muir K, Beckmann

MW, Ekici AB, Fasching PA, Heusinger K, Dos-Santos-Silva I, Peto J, Tomlinson I, Sawyer EJ,

Burwinkel B, Marme F, Guénel P, Truong T, Bojesen SE, Flyger H, Benitez J, González-Neira

A, Anton-Culver H, Neuhausen SL, Arndt V, Brenner H, Engel C, Meindl A, Schmutzler RK;

German Consortium of Hereditary Breast and Ovarian Cancer, Arnold N, Brauch H, Hamann U,

Chang-Claude J, Khan S, Nevanlinna H, Ito H, Matsuo K, Bogdanova NV, Dörk T, Lindblom A,

Margolin S; kConFab/AOCS Investigators, Kosma VM, Mannermaa A, Tseng CC, Wu AH, Floris

G, Lambrechts D, Rudolph A, Peterlongo P, Radice P, Couch FJ, Vachon C, Giles GG, McLean

C, Milne RL, Dugué PA, Haiman CA, Maskarinec G, Woolcott C, Henderson BE, Goldberg MS,

Simard J, Teo SH, Mariapun S, Helland Å, Haakensen V, Zheng W, Beeghly-Fadiel A, Tamimi

R, Jukkola-Vuorinen A, Winqvist R, Andrulis IL, Knight JA, Devilee P, Tollenaar RA, Figueroa J,

García-Closas M, Czene K, Hooning MJ, Tilanus-Linthorst M, Li J, Gao YT, Shu XO, Cox A,

Cross SS, Luben R, Khaw KT, Choi JY, Kang D, Hartman M, Lim WY, Kabisch M, Torres D,

Jakubowska A, Lubinski J, McKay J, Sangrajrang S, Toland AE, Yannoukakos D, Shen CY, Yu

JC, Ziogas A, Schoemaker MJ, Swerdlow A, Borresen-Dale AL, Kristensen V, French JD,

Edwards SL, Dunning AM, Easton DF, Hall P, Chenevix-Trench G. Am J Hum Genet. 2015 Jul

2;97(1):22-34. doi: 10.1016/j.ajhg.2015.05.002. Epub 2015 Jun 11.

PMID: 26073781


CUARTIL: D1

30. Tumor MicroRNA Expression Profiling Identifies Circulating MicroRNAs for Early

Breast Cancer Detection.

Matamala N, Vargas MT, González-Cámpora R, Miñambres R, Arias JI, Menéndez P, Andrés-

León E, Gómez-López G, Yanowsky K, Calvete-Candenas J, Inglada-Pérez L, Martínez-

Delgado B, Benítez J. Clin Chem. 2015 Aug;61(8):1098-106. doi:

10.1373/clinchem.2015.238691. Epub 2015 Jun 8.

PMID: 26056355


CUARTIL: D1





33

31. RAD51C mutation screening in high-risk patients from Serbian hereditary

breast/ovarian cancer families. Krivokuca A, Yanowski K, Rakobradovic J, Benitez J,

Brankovic-Magic M. Cancer Biomark. 2015 Aug 3. DOI:10.3233/CBM-150519.

PMID: 26406419 FACTOR DE IMPACTO: 1.736 CUARTIL: Q4

32. Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian

Randomization.

Zhang B, Shu XO, Delahanty RJ, Zeng C, Michailidou K, Bolla MK, Wang Q, Dennis J, Wen W,

Long J, Li C, Dunning AM, Chang-Claude J, Shah M, Perkins BJ, Czene K, Darabi H, Eriksson

M, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Lambrechts D, Neven P, Wildiers H,

Floris G, Schmidt MK, Rookus MA, van den Hurk K, de Kort WL, Couch FJ, Olson JE, Hallberg

E, Vachon C, Rudolph A, Seibold P, Flesch-Janys D, Peto J, Dos-Santos-Silva I, Fletcher O,

Johnson N, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Li J, Humphreys K, Brand J,

Guénel P, Truong T, Cordina-Duverger E, Menegaux F, Burwinkel B, Marme F, Yang R, Surowy

H, Benitez J, Zamora MP, Perez JI, Cox A, Cross SS, Reed MW, Andrulis IL, Knight JA,

Glendon G, Tchatchou S, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Chenevix-Trench G;

kConFab Investigators, Australian Ovarian Study Group, Haiman CA, Henderson BE,

Schumacher F, Marchand LL, Lindblom A, Margolin S, Hooning MJ, Martens JW, Tilanus-

Linthorst MM, Collée JM, Hopper JL, Southey MC, Tsimiklis H, Apicella C, Slager S, Toland AE,

Ambrosone CB, Yannoukakos D, Giles GG, Milne RL, McLean C, Fasching PA, Haeberle L,

Ekici AB, Beckmann MW, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Swerdlow AJ,

Ashworth A, Orr N, Jones M, Figueroa J, Garcia-Closas M, Brinton L, Lissowska J, Dumont M,

Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Brauch H, Brüning T, Ko YD, Peterlongo P,

Manoukian S, Bonanni B, Radice P, Bogdanova N, Antonenkova N, Dörk T, Mannermaa A,

Kataja V, Kosma VM, Hartikainen JM, Devilee P, Seynaeve C, Van Asperen CJ, Jakubowska A,

Lubiński J, Jaworska-Bieniek K, Durda K, Hamann U, Torres D, Schmutzler RK, Neuhausen SL,

Anton-Culver H, Kristensen VN, Grenaker Alnæs GI; DRIVE Project, Pierce BL, Kraft P, Peters

U, Lindstrom S, Seminara D, Burgess S, Ahsan H, Whittemore AS, John EM, Gammon MD,

Malone KE, Tessier DC, Vincent D, Bacot F, Luccarini C, Baynes C, Ahmed S, Maranian M,

Healey CS, González-Neira A, Pita G, Alonso MR, Álvarez N, Herrero D, Pharoah PD, Simard

J, Hall P, Hunter DJ, Easton DF, Zheng W. J Natl Cancer Inst. 2015 Aug 20;107(11). pii:

djv219. doi: 10.1093/jnci/djv219. Print 2015 Nov.


33. FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects

DNA repair activity and is a familial breast cancer risk factor.

https://doi.org/10.3233/CBM-150519





34

Peterlongo P, Catucci I, Colombo M, Caleca L, Mucaki E, Bogliolo M, Marin M, Damiola F, Bernard L, Pensotti V, Volorio S, Dall'Olio V, Meindl A, Bartram C, Sutter C, Surowy H, Sornin V, Dondon MG, Eon-Marchais S, Stoppa-Lyonnet D, Andrieu N, Sinilnikova OM; GENESIS, Mitchell G, James PA, Thompson E; kConFab; SWE-BRCA, Marchetti M, Verzeroli C, Tartari C, Capone GL, Putignano AL, Genuardi M, Medici V, Marchi I, Federico M, Tognazzo S, Matricardi L, Agata S, Dolcetti R, Puppa LD, Cini G, Gismondi V, Viassolo V, Perfumo C, Mencarelli MA, Baldassarri M, Peissel B, Roversi G, Silvestri V, Rizzolo P, Spina F, Vivanet C, Tibiletti MG, Caligo MA, Gambino G, Tommasi S, Pilato B, Tondini C, Corna C, Bonanni B, Barile M, Osorio A, Benitez J, Balestrino L, Ottini L, Manoukian S, Pierotti MA, Renieri A, Varesco L, Couch FJ, Wang X, Devilee P, Hilbers FS, van Asperen CJ, Viel A, Montagna M, Cortesi L, Diez O, Balmaña J, Hauke J, Schmutzler RK, Papi L, Pujana MA, Lázaro C, Falanga A, Offit K, Vijai J, Campbell I, Burwinkel B, Kvist A, Ehrencrona H, Mazoyer S, Pizzamiglio S, Verderio P, Surralles J, Rogan PK, Radice P. Hum Mol Genet. 2015 Sep 15;24(18):5345-55. doi: 10.1093/hmg/ddv251. Epub 2015 Jun 30. PMID: 26130695 FACTOR DE IMPACTO: 5.985 CUARTIL: D1

34. Large-scale genomic analyses link reproductive aging to hypothalamic signaling,

breast cancer susceptibility and BRCA1-mediated DNA repair.

Day FR, Ruth KS, Thompson DJ, Lunetta KL, Pervjakova N, Chasman DI, Stolk L, Finucane HK, Sulem P, Bulik-Sullivan B, Esko T, Johnson AD, Elks CE, Franceschini N, He C, Altmaier E, Brody JA, Franke LL, Huffman JE, Keller MF, McArdle PF, Nutile T, Porcu E, Robino A, Rose LM, Schick UM, Smith JA, Teumer A, Traglia M, Vuckovic D, Yao J, Zhao W, Albrecht E, Amin N, Corre T, Hottenga JJ, Mangino M, Smith AV, Tanaka T, Abecasis GR, Andrulis IL, Anton-Culver H, Antoniou AC, Arndt V, Arnold AM, Barbieri C, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bernstein L, Bielinski SJ, Blomqvist C, Boerwinkle E, Bogdanova NV, Bojesen SE, Bolla MK, Borresen-Dale AL, Boutin TS, Brauch H, Brenner H, Brüning T, Burwinkel B, Campbell A, Campbell H, Chanock SJ, Chapman JR, Chen YI, Chenevix-Trench G, Couch FJ, Coviello AD, Cox A, Czene K, Darabi H, De Vivo I, Demerath EW, Dennis J, Devilee P, Dörk T, Dos-Santos-Silva I, Dunning AM, Eicher JD, Fasching PA, Faul JD, Figueroa J, Flesch-Janys D, Gandin I, Garcia ME, García-Closas M, Giles GG, Girotto GG, Goldberg MS, González-Neira A, Goodarzi MO, Grove ML, Gudbjartsson DF, Guénel P, Guo X, Haiman CA, Hall P, Hamann U, Henderson BE, Hocking LJ, Hofman A, Homuth G, Hooning MJ, Hopper JL, Hu FB, Huang J, Humphreys K, Hunter DJ, Jakubowska A, Jones SE, Kabisch M, Karasik D, Knight JA, Kolcic I, Kooperberg C, Kosma VM, Kriebel J, Kristensen V, Lambrechts D, Langenberg C, Li J, Li X, Lindström S, Liu Y, Luan J, Lubinski J, Mägi R, Mannermaa A, Manz J, Margolin S, Marten J, Martin NG, Masciullo C, Meindl A, Michailidou K, Mihailov E, Milani L, Milne RL, Müller-Nurasyid M, Nalls M, Neale BM, Nevanlinna H, Neven P, Newman AB, Nordestgaard BG, Olson JE, Padmanabhan S, Peterlongo P, Peters U, Petersmann A, Peto J, Pharoah PD, Pirastu NN, Pirie A, Pistis G, Polasek O, Porteous D, Psaty BM, Pylkäs K, Radice P, Raffel LJ, Rivadeneira F, Rudan I, Rudolph A, Ruggiero D, Sala CF, Sanna S, Sawyer EJ, Schlessinger D, Schmidt MK, Schmidt F, Schmutzler RK, Schoemaker MJ, Scott RA, Seynaeve CM, Simard J, Sorice R, Southey MC, Stöckl D, Strauch K, Swerdlow A, Taylor KD, Thorsteinsdottir U, Toland AE, Tomlinson I, Truong T, Tryggvadottir L, Turner ST, Vozzi D, Wang Q, Wellons M, Willemsen G, Wilson JF, Winqvist R, Wolffenbuttel BB, Wright AF, Yannoukakos D, Zemunik T, Zheng W, Zygmunt M, Bergmann S, Boomsma DI, Buring JE, Ferrucci L, Montgomery GW, Gudnason V, Spector TD, van Duijn CM, Alizadeh BZ, Ciullo M, Crisponi L, Easton DF, Gasparini PP, Gieger C, Harris TB, Hayward C, Kardia SL, Kraft P, McKnight B, Metspalu A, Morrison AC, Reiner AP, Ridker PM, Rotter JI, Toniolo D, Uitterlinden AG, Ulivi S, Völzke H, Wareham NJ, Weir DR,



35

Yerges-Armstrong LM; PRACTICAL Consortium; kConFab Investigators; AOCS Investigators; Generation Scotland; EPIC-InterAct Consortium; LifeLines Cohort Study, Price AL, Stefansson K, Visser JA, Ong KK, Chang-Claude J, Murabito JM, Perry JR, Murray A. Nat Genet. 2015 Sep 28. doi: 10.1038/ng.3412. PMID: 26414677 FACTOR DE IMPACTO: 34.284 CUARTIL: D1

35. A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-

negative Li-Fraumeni-like families.

Calvete O, Martinez P, Garcia-Pavia P, Benitez-Buelga C, Paumard-Hernández B, Fernandez V, Dominguez F, Salas C, Romero-Laorden N, Garcia-Donas J, Carrillo J, Perona R, Triviño JC, Andrés R, Cano JM, Rivera B, Alonso-Pulpon L, Setien F, Esteller M, Rodriguez-Perales S, Bougeard G, Frebourg T, Urioste M, Blasco MA, Benítez J.Nat Commun. 2015 Sep 25;6:8383. doi: 10.1038/ncomms9383. PMID: 26403419 FACTOR DE IMPACTO: 11.329 CUARTIL: D1

36. Fine-scale mapping of the 4q24 locus identifies two independent loci associated with

breast cancer risk.

Guo X, Long J, Zeng C, Michailidou K, Ghoussaini M, Bolla MK, Wang Q, Milne RL, Shu XO, Cai Q, Beesley J, Kar SP, Andrulis IL, Anton-Culver H, Arndt V, Beckmann MW, Beeghly-Fadiel A, Benitez J, Blot W, Bogdanova N, Bojesen SE, Brauch H, Brenner H, Brinton LA, Broeks A, Bruning T, Burwinkel B, Cai H, Canisius SV, Chang-Claude J, Choi JY, Couch FJ, Cox A, Cross SS, Czene K, Darabi H, Devilee P, Droit A, Dork T, Fasching PA, Fletcher O, Flyger H, Fostira F, Gaborieau V, Garcia-Closas M, Giles GG, Grip M, Guenel P, Haiman CA, Hamann U, Hartman M, Hollestelle A, Hopper JL, Hsiung CN, Ito H, Jakubowska A, Johnson N, Kabisch M, Kang D, Khan S, Knight JA, Kosma VM, Lambrechts D, Le Marchand L, Li J, Lindblom A, Lophatananon A, Lubinski J, Mannermaa A, Manoukian S, Margolin S, Marme F, Matsuo K, McLean CA, Meindl A, Muir K, Neuhausen SL, Nevanlinna H, Nord S, Olson JE, Orr N, Peterlongo P, Choudary Putti T, Rudolph A, Sangrajrang S, Sawyer EJ, Schmidt MK, Schmutzler RK, Shen CY, Shi J, Shrubsole MJ, Southey MC, Swerdlow A, Teo SH, Thienpont B, Toland AE, Tollenaar RA, Tomlinson IP, Truong T, Tseng CC, van den Ouweland A, Wen W, Winqvist R, Wu AH, Yip CH, Zamora MP, Zheng Y, Hall P, Pharoah PD, Simard J, Chevenix-Trench G, Dunning AM, Easton DF, Zheng W.Cancer Epidemiol Biomarkers Prev. 2015 Sep 9. pii: cebp.0363.2015. PMID: 26354892 FACTOR DE IMPACTO: 3.622 CUARTIL: Q1

36

37. Multiple novel prostate cancer susceptibility signals identified by fine-mapping of

known risk loci among Europeans.

Amin Al Olama A, Dadaev T, Hazelett DJ, Li Q, Leongamornlert D, Saunders EJ, Stephens S, Cieza-Borrella C, Whitmore I, Benlloch Garcia S, Giles GG, Southey MC, Fitzgerald L, Gronberg H, Wiklund F, Aly M, Henderson BE, Schumacher F, Haiman CA, Schleutker J, Wahlfors T, Tammela TL, Nordestgaard BG, Key TJ, Travis RC, Neal DE, Donovan JL, Hamdy FC, Pharoah P, Pashayan N, Khaw KT, Stanford JL, Thibodeau SN, Mcdonnell SK, Schaid DJ, Maier C, Vogel W, Luedeke M, Herkommer K, Kibel AS, Cybulski C, Wokołorczyk D, Kluzniak W, Cannon-Albright L, Brenner H, Butterbach K, Arndt V, Park JY, Sellers T, Lin HY, Slavov C, Kaneva R, Mitev V, Batra J, Clements JA, Spurdle A, Teixeira MR, Paulo P, Maia S, Pandha H, Michael A, Kierzek A, Govindasami K, Guy M, Lophatonanon A, Muir K, Viñuela A, Brown AA; PRACTICAL Consortium; COGS-CRUK GWAS-ELLIPSE (Part of GAME-ON) Initiative; Australian Prostate Cancer BioResource; UK Genetic Prostate Cancer Study Collaborators; UK ProtecT Study Collaborators, Freedman M, Conti DV, Easton D, Coetzee GA, Eeles RA, Kote-Jarai Z. Hum Mol Genet. 2015 Oct 1;24(19):5589-602. doi: 10.1093/hmg/ddv203. Epub 2015 May 29. PMID: 26025378 FACTOR DE IMPACTO: 5.985 CUARTIL: D1

PUBLICACIONES 2016

1. Fine-scale mapping of the 4q24 locus identifies two independent loci associated with

breast cancer risk.

Guo X, Long J, Zeng C, Michailidou K, Ghoussaini M, Bolla MK, Wang Q, Milne RL, Shu XO,

Cai Q, Beesley J, Kar SP, Andrulis IL, Anton-Culver H, Arndt V, Beckmann MW, Beeghly-Fadiel

A, Benitez J, Blot W, Bogdanova N, Bojesen SE, Brauch H, Brenner H, Brinton L, Broeks A,

Brüning T, Burwinkel B, Cai H, Canisius S, Chang-Claude J, Choi JY, Couch FJ, Cox A, Cross

SS, Czene K, Darabi H, Devilee P, Droit A, Dörk T, Fasching PA, Fletcher O, Flyger H, Fostira

F, Gaborieau V, García-Closas M, Giles GG, Grip M, Guénel P, Haiman CA, Hamann U,

Hartman M, Hollestelle A, Hopper JL, Hsiung CN, Ito H, Jakubowska A, Johnson N, Kabisch M,

Kang D, Khan S, Knight JA, Kosma VM, Lambrechts D, Le Marchand L, Li J, Lindblom A,

Lophatananon A, Lubinski J, Mannermaa A, Manoukian S, Margolin S, Marme F, Matsuo K,

McLean CA, Meindl A, Muir K, Neuhausen SL, Nevanlinna H, Nord S, Olson JE, Orr N,

Peterlongo P, Putti TC, Rudolph A, Sangrajrang S, Sawyer EJ, Schmidt MK, Schmutzler RK,

Shen CY, Shi J, Shrubsole MJ, Southey MC, Swerdlow A, Teo SH, Thienpont B, Toland AE,

Tollenaar RA, Tomlinson IP, Truong T, Tseng CC, van den Ouweland A, Wen W, Winqvist R,

Wu A, Yip CH, Zamora MP, Zheng Y, Hall P, Pharoah PD, Simard J, Chenevix-Trench G;

kConFab Investigators., Dunning AM, Easton DF, Zheng W.

Cancer Epidemiol Biomarkers Prev. 2015 Nov;24(11):1680-91. doi: 10.1158/1055-9965.EPI-

15-0363. PubMed Central PMCID: PMC4633342.



37

PMID: 26354892


2. Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian

Randomization.

Zhang B, Shu XO, Delahanty RJ, Zeng C, Michailidou K, Bolla MK, Wang Q, Dennis J, Wen W,

Long J, Li C, Dunning AM, Chang-Claude J, Shah M, Perkins BJ, Czene K, Darabi H, Eriksson

M, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Lambrechts D, Neven P, Wildiers H,

Floris G, Schmidt MK, Rookus MA, van den Hurk K, de Kort WL, Couch FJ, Olson JE, Hallberg

E, Vachon C, Rudolph A, Seibold P, Flesch-Janys D, Peto J, Dos-Santos-Silva I, Fletcher O,

Johnson N, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Li J, Humphreys K, Brand J,

Guénel P, Truong T, Cordina-Duverger E, Menegaux F, Burwinkel B, Marme F, Yang R, Surowy

H, Benitez J, Zamora MP, Perez JI, Cox A, Cross SS, Reed MW, Andrulis IL, Knight JA,

Glendon G, Tchatchou S, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Chenevix-Trench G;

kConFab Investigators, Australian Ovarian Study Group., Haiman CA, Henderson BE,

Schumacher F, Marchand LL, Lindblom A, Margolin S, Hooning MJ, Martens JW, Tilanus-

Linthorst MM, Collée JM, Hopper JL, Southey MC, Tsimiklis H, Apicella C, Slager S, Toland

AE, Ambrosone CB, Yannoukakos D, Giles GG, Milne RL, McLean C, Fasching PA, Haeberle L,

Ekici AB, Beckmann MW, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Swerdlow AJ,

Ashworth A, Orr N, Jones M, Figueroa J, Garcia-Closas M, Brinton L, Lissowska J, Dumont M,

Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Brauch H, Brüning T, Ko YD, Peterlongo P,

Manoukian S, Bonanni B, Radice P, Bogdanova N, Antonenkova N, Dörk T, Mannermaa A,

Kataja V, Kosma VM, Hartikainen JM, Devilee P, Seynaeve C, Van Asperen CJ, Jakubowska A,

Lubinski J, Jaworska-Bieniek K, Durda K, Hamann U, Torres D, Schmutzler RK, Neuhausen SL,

Anton-Culver H, Kristensen VN, Grenaker Alnæs GI; DRIVE Project., Pierce BL, Kraft P, Peters

U, Lindstrom S, Seminara D, Burgess S, Ahsan H, Whittemore AS, John EM, Gammon MD,

Malone KE, Tessier DC, Vincent D, Bacot F, Luccarini C, Baynes C, Ahmed S, Maranian M,

Healey CS, González-Neira A, Pita G, Alonso MR, Álvarez N, Herrero D, Pharoah PD, Simard

J, Hall P, Hunter DJ, Easton DF, Zheng W. J Natl Cancer Inst. 2015 Nov;107(11). pii: djv219.

doi: 10.1093/jnci/djv219. PubMed Central PMCID: PMC4643630.


3. Large-scale genomic analyses link reproductive aging to hypothalamic signaling,

breast cancer susceptibility and BRCA1-mediated DNA repair.

Day FR, Ruth KS, Thompson DJ, Lunetta KL, Pervjakova N, Chasman DI, Stolk L, Finucane

HK, Sulem P, Bulik-Sullivan B, Esko T, Johnson AD, Elks CE, Franceschini N, He C, Altmaier E,

38

Brody JA, Franke LL, Huffman JE, Keller MF, McArdle PF, Nutile T, Porcu E, Robino A, Rose

LM, Schick UM, Smith JA, Teumer A, Traglia M, Vuckovic D, Yao J, Zhao W, Albrecht E, Amin

N, Corre T, Hottenga JJ, Mangino M, Smith AV, Tanaka T, Abecasis GR, Andrulis IL, Anton-

Culver H, Antoniou AC, Arndt V, Arnold AM, Barbieri C, Beckmann MW, Beeghly-Fadiel A,

Benitez J, Bernstein L, Bielinski SJ, Blomqvist C, Boerwinkle E, Bogdanova NV, Bojesen SE,

Bolla MK, Borresen-Dale AL, Boutin TS, Brauch H, Brenner H, Brüning T, Burwinkel B,

Campbell A, Campbell H, Chanock SJ, Chapman JR, Chen YD, Chenevix-Trench G, Couch FJ,

Coviello AD, Cox A, Czene K, Darabi H, De Vivo I, Demerath EW, Dennis J, Devilee P, Dörk T,

Dos-Santos-Silva I, Dunning AM, Eicher JD, Fasching PA, Faul JD, Figueroa J, Flesch-Janys D,

Gandin I, Garcia ME, García-Closas M, Giles GG, Girotto GG, Goldberg MS, González-Neira A,

Goodarzi MO, Grove ML, Gudbjartsson DF, Guénel P, Guo X, Haiman CA, Hall P, Hamann U,

Henderson BE, Hocking LJ, Hofman A, Homuth G, Hooning MJ, Hopper JL, Hu FB, Huang J,

Humphreys K, Hunter DJ, Jakubowska A, Jones SE, Kabisch M, Karasik D, Knight JA, Kolcic I,

Kooperberg C, Kosma VM, Kriebel J, Kristensen V, Lambrechts D, Langenberg C, Li J, Li X,

Lindström S, Liu Y, Luan J, Lubinski J, Mägi R, Mannermaa A, Manz J, Margolin S, Marten J,

Martin NG, Masciullo C, Meindl A, Michailidou K, Mihailov E, Milani L, Milne RL, Müller-

Nurasyid M, Nalls M, Neale BM, Nevanlinna H, Neven P, Newman AB, Nordestgaard BG, Olson

JE, Padmanabhan S, Peterlongo P, Peters U, Petersmann A, Peto J, Pharoah PD, Pirastu NN,

Pirie A, Pistis G, Polasek O, Porteous D, Psaty BM, Pylkäs K, Radice P, Raffel LJ, Rivadeneira

F, Rudan I, Rudolph A, Ruggiero D, Sala CF, Sanna S, Sawyer EJ, Schlessinger D, Schmidt

MK, Schmidt F, Schmutzler RK, Schoemaker MJ, Scott RA, Seynaeve CM, Simard J, Sorice R,

Southey MC, Stöckl D, Strauch K, Swerdlow A, Taylor KD, Thorsteinsdottir U, Toland AE,

Tomlinson I, Truong T, Tryggvadottir L, Turner ST, Vozzi D, Wang Q, Wellons M, Willemsen G,

Wilson JF, Winqvist R, Wolffenbuttel BB, Wright AF, Yannoukakos D, Zemunik T, Zheng W,

Zygmunt M, Bergmann S, Boomsma DI, Buring JE, Ferrucci L, Montgomery GW, Gudnason V,

Spector TD, van Duijn CM, Alizadeh BZ, Ciullo M, Crisponi L, Easton DF, Gasparini PP, Gieger

C, Harris TB, Hayward C, Kardia SL, Kraft P, McKnight B, Metspalu A, Morrison AC, Reiner AP,

Ridker PM, Rotter JI, Toniolo D, Uitterlinden AG, Ulivi S, Völzke H, Wareham NJ, Weir DR,

Yerges-Armstrong LM; PRACTICAL Consortium.; kConFab Investigators.; AOCS Investigators.;

Generation Scotland.; EPIC-InterAct Consortium.; LifeLines Cohort Study., Price AL,

Stefansson K, Visser JA, Ong KK, Chang-Claude J, Murabito JM, Perry JR, Murray A.

Nat Genet. 2015 Nov;47(11):1294-303. doi: 10.1038/ng.3412. PubMed Central PMCID: PMC4661791. PMID: 26414677 FACTOR DE IMPACTO: 34.284 CUARTIL: D1

4. Genetic variation in the immunosuppression pathway genes and breast cancer

susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast

Cancer Association Consortium.

Lei J, Rudolph A, Moysich KB, Behrens S, Goode EL, Bolla MK, Dennis J, Dunning AM, Easton

DF, Wang Q, Benitez J, Hopper JL, Southey MC, Schmidt MK, Broeks A, Fasching PA,

39

Haeberle L, Peto J, Dos-Santos-Silva I, Sawyer EJ, Tomlinson I, Burwinkel B, Marmé F, Guénel

P, Truong T, Bojesen SE, Flyger H, Nielsen SF, Nordestgaard BG, González-Neira A,

Menéndez P, Anton-Culver H, Neuhausen SL, Brenner H, Arndt V, Meindl A, Schmutzler RK,

Brauch H, Hamann U, Nevanlinna H, Fagerholm R, Dörk T, Bogdanova NV, Mannermaa A,

Hartikainen JM; Australian Ovarian Study Group.; kConFab Investigators., Van Dijck L, Smeets

A, Flesch-Janys D, Eilber U, Radice P, Peterlongo P, Couch FJ, Hallberg E, Giles GG, Milne

RL, Haiman CA, Schumacher F, Simard J, Goldberg MS, Kristensen V, Borresen-Dale AL,

Zheng W, Beeghly-Fadiel A, Winqvist R, Grip M, Andrulis IL, Glendon G, García-Closas M,

Figueroa J, Czene K, Brand JS, Darabi H, Eriksson M, Hall P, Li J, Cox A, Cross SS, Pharoah

PD, Shah M, Kabisch M, Torres D, Jakubowska A, Lubinski J, Ademuyiwa F, Ambrosone CB,

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Schmutzler RK, Brauch H, Brüning T, Lindblom A, Margolin S, Mannermaa A, Hartikainen JM,

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Zeng C, Guo X, Long J, Kuchenbaecker KB, Droit A, Michailidou K, Ghoussaini M, Kar S,

Freeman A, Hopper JL, Milne RL, Bolla MK, Wang Q, Dennis J, Agata S, Ahmed S, Aittomäki K,

Andrulis IL, Anton-Culver H, Antonenkova NN, Arason A, Arndt V, Arun BK, Arver B, Bacot F,

Barrowdale D, Baynes C, Beeghly-Fadiel A, Benitez J, Bermisheva M, Blomqvist C, Blot WJ,

Bogdanova NV, Bojesen SE, Bonanni B, Borresen-Dale AL, Brand JS, Brauch H, Brennan P,

Brenner H, Broeks A, Brüning T, Burwinkel B, Buys SS, Cai Q, Caldes T, Campbell I,

Carpenter J, Chang-Claude J, Choi JY, Claes KB, Clarke C, Cox A, Cross SS, Czene K, Daly

MB, de la Hoya M, De Leeneer K, Devilee P, Diez O, Domchek SM, Doody M, Dorfling CM,

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Dörk T, Dos-Santos-Silva I, Dumont M, Dwek M, Dworniczak B, Egan K, Eilber U, Einbeigi Z,

Ejlertsen B, Ellis S, Frost D, Lalloo F; EMBRACE., Fasching PA, Figueroa J, Flyger H,

Friedlander M, Friedman E, Gambino G, Gao YT, Garber J, García-Closas M, Gehrig A,

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N, Healey S, Hogervorst FB, Verhoef S; HEBON., Hendricks CB, Hillemanns P, Hollestelle A,

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Bieniek K, Jensen UB, John EM, Joly Beauparlant C, Jones M, Kabisch M, Kang D, Karlan BY,

Kauppila S, Kerin MJ, Khan S, Khusnutdinova E, Knight JA, Konstantopoulou I, Kraft P, Kwong

A, Laitman Y, Lambrechts D, Lazaro C, Le Marchand L, Lee CN, Lee MH, Lester J, Li J,

Liljegren A, Lindblom A, Lophatananon A, Lubinski J, Mai PL, Mannermaa A, Manoukian S,

Margolin S, Marme F, Matsuo K, McGuffog L, Meindl A, Menegaux F, Montagna M, Muir K,

Mulligan AM, Nathanson KL, Neuhausen SL, Nevanlinna H, Newcomb PA, Nord S, Nussbaum

RL, Offit K, Olah E, Olopade OI, Olswold C, Osorio A, Papi L, Park-Simon TW, Paulsson-

Karlsson Y, Peeters S, Peissel B, Peterlongo P, Peto J, Pfeiler G, Phelan CM, Presneau N,

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Southey M, Steinemann D, Swerdlow A, Szabo CI, Tchatchou S, Teixeira MR, Teo SH, Terry

MB, Tessier DC, Teulé A, Thomassen M, Tihomirova L, Tischkowitz M, Toland AE, Tung N,

Turnbull C, van den Ouweland AM, van Rensburg EJ, Ven den Berg D, Vijai J, Wang-Gohrke S,

Weitzel JN, Whittemore AS, Winqvist R, Wong TY, Wu AH, Yannoukakos D, Yu JC, Pharoah

PD, Hall P, Chenevix-Trench G; KConFab.; AOCS Investigators., Dunning AM, Simard J, Couch

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17. An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast

cancer risk by deregulating IGFBP5 expression.

Wyszynski A, Hong CC, Lam K, Michailidou K, Lytle C, Yao S, Zhang Y, Bolla MK, Wang Q,

Dennis J, Hopper JL, Southey MC, Schmidt MK, Broeks A, Muir K, Lophatananon A, Fasching

PA, Beckmann MW, Peto J, Dos-Santos-Silva I, Sawyer EJ, Tomlinson I, Burwinkel B, Marme

F, Guénel P, Truong T, Bojesen SE, Nordestgaard BG, González-Neira A, Benitez J,

Neuhausen SL, Brenner H, Dieffenbach AK, Meindl A, Schmutzler RK, Brauch H; GENICA

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18. Inflammatory-Related Genetic Variants in Non-Muscle-Invasive Bladder Cancer

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Masson-Lecomte A, López de Maturana E, Goddard ME, Picornell A, Rava M, González-Neira

A, Márquez M, Carrato A, Tardon A, Lloreta J, Garcia-Closas M, Silverman D, Rothman N,

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20. Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify

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49

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V, Gauthier-Villars M, Gehrig A, Gerdes AM, Giraud S, Godwin AK, Goldgar DE, Hake CR,

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21. DNMT1 Inhibition Reprograms Pancreatic Cancer Stem Cells via Upregulation of the

miR-17-92 Cluster.

Zagorac S, Alcala S, Fernandez Bayon G, Bou Kheir T, Schoenhals M, González-Neira A,

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22. Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus.

Horne HN, Chung CC, Zhang H, Yu K, Prokunina-Olsson L, Michailidou K, Bolla MK, Wang Q,

Dennis J, Hopper JL, Southey MC, Schmidt MK, Broeks A, Muir K, Lophatananon A, Fasching

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Neuhausen SL, Brenner H, Arndt V, Meindl A, Schmutzler RK, Brauch H, Hamann U,

Nevanlinna H, Khan S, Matsuo K, Iwata H, Dörk T, Bogdanova NV, Lindblom A, Margolin S,

Mannermaa A, Kosma VM, Chenevix-Trench G; kConFab/AOCS Investigators., Wu AH, Ven

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Calvete O, Varro A, Pritchard DM, Barroso A, Oteo M, Morcillo MÁ, Vargiu P, Dodd S, Garcia

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Bogdanova NV, Antonenkova NN, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma

VM, Hartikainen JM, Spurdle AB, Investigators K; Australian Ovarian Cancer Study Group.,

Wauters E, Smeets D, Beuselinck B, Floris G, Chang-Claude J, Rudolph A, Seibold P, Flesch-

Janys D, Olson JE, Vachon C, Pankratz VS, McLean C, Haiman CA, Henderson BE,

Schumacher F, Le Marchand L, Kristensen V, Alnæs GG, Zheng W, Hunter DJ, Lindstrom S,

Hankinson SE, Kraft P, Andrulis I, Knight JA, Glendon G, Mulligan AM, Jukkola-Vuorinen A,

Grip M, Kauppila S, Devilee P, Tollenaar RA, Seynaeve C, Hollestelle A, Garcia-Closas M,

Figueroa J, Chanock SJ, Lissowska J, Czene K, Darabi H, Eriksson M, Eccles DM, Rafiq S,

Tapper WJ, Gerty SM, Hooning MJ, Martens JW, Collée JM, Tilanus-Linthorst M, Hall P, Li J,

Brand JS, Humphreys K, Cox A, Reed MW, Luccarini C, Baynes C, Dunning AM, Hamann U,

Torres D, Ulmer HU, Rüdiger T, Jakubowska A, Lubinski J, Jaworska K, Durda K, Slager S,

54

Toland AE, Ambrosone CB, Yannoukakos D, Swerdlow A, Ashworth A, Orr N, Jones M,

González-Neira A, Pita G, Alonso MR, Álvarez N, Herrero D, Tessier DC, Vincent D, Bacot F,

Simard J, Dumont M, Soucy P, Eeles R, Muir K, Wiklund F, Gronberg H, Schleutker J,

Nordestgaard BG, Weischer M, Travis RC, Neal D, Donovan JL, Hamdy FC, Khaw KT, Stanford

JL, Blot WJ, Thibodeau S, Schaid DJ, Kelley JL, Maier C, Kibel AS, Cybulski C, Cannon-

Albright L, Butterbach K, Park J, Kaneva R, Batra J, Teixeira MR, Kote-Jarai Z, Olama AA,

Benlloch S, Renner SP, Hartmann A, Hein A, Ruebner M, Lambrechts D, Van Nieuwenhuysen

E, Vergote I, Lambretchs S, Doherty JA, Rossing MA, Nickels S, Eilber U, Wang-Gohrke S,

Odunsi K, Sucheston-Campbell LE, Friel G, Lurie G, Killeen JL, Wilkens LR, Goodman MT,

Runnebaum I, Hillemanns PA, Pelttari LM, Butzow R, Modugno F, Edwards RP, Ness RB,

Moysich KB, du Bois A, Heitz F, Harter P, Kommoss S, Karlan BY, Walsh C, Lester J, Jensen

A, Kjaer SK, Høgdall E, Peissel B, Bonanni B, Bernard L, Goode EL, Fridley BL, Vierkant RA,

Cunningham JM, Larson MC, Fogarty ZC, Kalli KR, Liang D, Lu KH, Hildebrandt MA, Wu X,

Levine DA, Dao F, Bisogna M, Berchuck A, Iversen ES, Marks JR, Akushevich L, Cramer DW,

Schildkraut J, Terry KL, Poole EM, Stampfer M, Tworoger SS, Bandera EV, Orlow I, Olson SH,

Bjorge L, Salvesen HB, van Altena AM, Aben KK, Kiemeney LA, Massuger LF, Pejovic T, Bean

Y, Brooks-Wilson A, Kelemen LE, Cook LS, Le ND, Górski B, Gronwald J, Menkiszak J, Høgdall

CK, Lundvall L, Nedergaard L, Engelholm SA, Dicks E, Tyrer J, Campbell I, McNeish I, Paul J,

Siddiqui N, Glasspool R, Whittemore AS, Rothstein JH, McGuire V, Sieh W, Cai H, Shu XO,

Teten RT, Sutphen R, McLaughlin JR, Narod SA, Phelan CM, Monteiro AN, Fenstermacher D,

Lin HY, Permuth JB, Sellers TA, Chen YA, Tsai YY, Chen Z, Gentry-Maharaj A, Gayther SA,

Ramus SJ, Menon U, Wu AH, Pearce CL, Van Den Berg D, Pike MC, Dansonka-Mieszkowska

A, Plisiecka-Halasa J, Moes-Sosnowska J, Kupryjanczyk J, Pharoah PD, Song H, Winship I,

Chenevix-Trench G, Giles GG, Tavtigian SV, Easton DF, Milne RL. J Med Genet. 2016 Sep 5.

pii: jmedgenet-2016-103839. doi: 10.1136/jmedgenet-2016-103839.

PMID: 27595995


29. Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association

Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types.

Kar SP, Beesley J, Amin Al Olama A, Michailidou K, Tyrer J, Kote-Jarai Z, Lawrenson K,

Lindstrom S, Ramus SJ, Thompson DJ; ABCTB Investigators., Kibel AS, Dansonka-

Mieszkowska A, Michael A, Dieffenbach AK, Gentry-Maharaj A, Whittemore AS, Wolk A,

Monteiro A, Peixoto A, Kierzek A, Cox A, Rudolph A, Gonzalez-Neira A, Wu AH, Lindblom A,

Swerdlow A; AOCS Study Group & Australian Cancer Study (Ovarian Cancer).; APCB

BioResource., Ziogas A, Ekici AB, Burwinkel B, Karlan BY, Nordestgaard BG, Blomqvist C,

Phelan C, McLean C, Pearce CL, Vachon C, Cybulski C, Slavov C, Stegmaier C, Maier C,

Ambrosone CB, Høgdall CK, Teerlink CC, Kang D, Tessier DC, Schaid DJ, Stram DO, Cramer

DW, Neal DE, Eccles D, Flesch-Janys D, Edwards DR, Wokozorczyk D, Levine DA,

Yannoukakos D, Sawyer EJ, Bandera EV, Poole EM, Goode EL, Khusnutdinova E, Høgdall E,

55

Song F, Bruinsma F, Heitz F, Modugno F, Hamdy FC, Wiklund F, Giles GG, Olsson H, Wildiers

H, Ulmer HU, Pandha H, Risch HA, Darabi H, Salvesen HB, Nevanlinna H, Gronberg H,

Brenner H, Brauch H, Anton-Culver H, Song H, Lim HY, McNeish I, Campbell I, Vergote I,

Gronwald J, Lubinski J, Stanford JL, Benítez J, Doherty JA, Permuth JB, Chang-Claude J,

Donovan JL, Dennis J, Schildkraut JM, Schleutker J, Hopper JL, Kupryjanczyk J, Park JY,

Figueroa J, Clements JA, Knight JA, Peto J, Cunningham JM, Pow-Sang J, Batra J, Czene K,

Lu KH, Herkommer K, Khaw KT; kConFab Investigators., Matsuo K, Muir K, Offitt K, Chen K,

Moysich KB, Aittomäki K, Odunsi K, Kiemeney LA, Massuger LF, Fitzgerald LM, Cook LS,

Cannon-Albright L, Hooning MJ, Pike MC, Bolla MK, Luedeke M, Teixeira MR, Goodman MT,

Schmidt MK, Riggan M, Aly M, Rossing MA, Beckmann MW, Moisse M, Sanderson M, Southey

MC, Jones M, Lush M, Hildebrandt MA, Hou MF, Schoemaker MJ, Garcia-Closas M,

Bogdanova N, Rahman N; NBCS Investigators., Le ND, Orr N, Wentzensen N, Pashayan N,

Peterlongo P, Guénel P, Brennan P, Paulo P, Webb PM, Broberg P, Fasching PA, Devilee P,

Wang Q, Cai Q, Li Q, Kaneva R, Butzow R, Kopperud RK, Schmutzler RK, Stephenson RA,

MacInnis RJ, Hoover RN, Winqvist R, Ness R, Milne RL, Travis RC, Benlloch S, Olson SH,

McDonnell SK, Tworoger SS, Maia S, Berndt S, Lee SC, Teo SH, Thibodeau SN, Bojesen SE,

Gapstur SM, Kjær SK, Pejovic T, Tammela TL; GENICA Network.; PRACTICAL consortium.,

Dörk T, Brüning T, Wahlfors T, Key TJ, Edwards TL, Menon U, Hamann U, Mitev V, Kosma VM,

Setiawan VW, Kristensen V, Arndt V, Vogel W, Zheng W, Sieh W, Blot WJ, Kluzniak W, Shu

XO, Gao YT, Schumacher F, Freedman ML, Berchuck A, Dunning AM, Simard J, Haiman CA,

Spurdle A, Sellers TA, Hunter DJ, Henderson BE, Kraft P, Chanock SJ, Couch FJ, Hall P,

Gayther SA, Easton DF, Chenevix-Trench G, Eeles R, Pharoah PD, Lambrechts D.

Cancer Discov. 2016 Sep;6(9):1052-67. doi: 10.1158/2159-8290.CD-15-1227. PubMed Central

PMCID: PMC5010513.

PMID: 27432226


30. Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for

breast cancer.

Shi J, Zhang Y, Zheng W, Michailidou K, Ghoussaini M, Bolla MK, Wang Q, Dennis J, Lush M,

Milne RL, Shu XO, Beesley J, Kar S, Andrulis IL, Anton-Culver H, Arndt V, Beckmann MW,

Zhao Z, Guo X, Benitez J, Beeghly-Fadiel A, Blot W, Bogdanova NV, Bojesen SE, Brauch H,

Brenner H, Brinton L, Broeks A, Brüning T, Burwinkel B, Cai H, Canisius S, Chang-Claude J,

Choi JY, Couch FJ, Cox A, Cross SS, Czene K, Darabi H, Devilee P, Droit A, Dork T, Fasching

PA, Fletcher O, Flyger H, Fostira F, Gaborieau V, García-Closas M, Giles GG, Grip M, Guenel

P, Haiman CA, Hamann U, Hartman M, Miao H, Hollestelle A, Hopper JL, Hsiung CN; kConFab

Investigators., Ito H, Jakubowska A, Johnson N, Torres D, Kabisch M, Kang D, Khan S, Knight

JA, Kosma VM, Lambrechts D, Li J, Lindblom A, Lophatananon A, Lubinski J, Mannermaa A,

Manoukian S, Le Marchand L, Margolin S, Marme F, Matsuo K, McLean C, Meindl A, Muir K,

Neuhausen SL, Nevanlinna H, Nord S, Børresen-Dale AL, Olson JE, Orr N, van den Ouweland

AM, Peterlongo P, Choudary Putti T, Rudolph A, Sangrajrang S, Sawyer EJ, Schmidt MK,

56

Schmutzler RK, Shen CY, Hou MF, Shrubsole MJ, Southey MC, Swerdlow A, Hwang Teo S,

Thienpont B, Toland AE, Tollenaar RA, Tomlinson I, Truong T, Tseng CC, Wen W, Winqvist R,

Wu AH, Har Yip C, Zamora PM, Zheng Y, Floris G, Cheng CY, Hooning MJ, Martens JW,

Seynaeve C, Kristensen VN, Hall P, Pharoah PD, Simard J, Chenevix-Trench G, Dunning AM,

Antoniou AC, Easton DF, Cai Q, Long J. Int J Cancer. 2016 Sep 15;139(6):1303-17. doi:

10.1002/ijc.30150.

PMID: 27087578


31. Identification of genetic variants in pharmacokinetic genes associated with Ewing

Sarcoma treatment outcome.

Ruiz-Pinto S, Pita G, Patiño-García A, García-Miguel P, Alonso J, Pérez-Martínez A, Sastre A,

Gómez-Mariano G, Lissat A, Scotlandi K, Serra M, Ladenstein R, Lapouble E, Pierron G,

Kontny U, Picci P, Kovar H, Delattre O, González-Neira A. Ann Oncol. 2016 Sep;27(9):1788-

93. doi: 10.1093/annonc/mdw234.

PMID: 27287205


32. Germline missense pathogenic variants in the BRCA1 BRCT domain, p.Gly1706Glu

and p.Ala1708Glu, increase cellular sensitivity to PARP inhibitor Olaparib by a dominant

negative effect.

Vaclová T, Woods NT, Megías D, Gomez-Lopez S, Setién F, García Bueno JM, Macías JA,

Barroso A, Urioste M, Esteller M, Monteiro AN, Benítez J, Osorio A. Hum Mol Genet. 2016 Oct

13. pii: ddw343.

PMID: 27742776


33. Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-

Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation.

Ghoussaini M, French JD, Michailidou K, Nord S, Beesley J, Canisus S, Hillman KM, Kaufmann

S, Sivakumaran H, Moradi Marjaneh M, Lee JS, Dennis J, Bolla MK, Wang Q, Dicks E, Milne

RL, Hopper JL, Southey MC, Schmidt MK, Broeks A, Muir K, Lophatananon A, Fasching PA,

57

Beckmann MW, Fletcher O, Johnson N, Sawyer EJ, Tomlinson I, Burwinkel B, Marme F,

Guénel P, Truong T, Bojesen SE, Flyger H, Benitez J, González-Neira A, Alonso MR, Pita G,

Neuhausen SL, Anton-Culver H, Brenner H, Arndt V, Meindl A, Schmutzler RK, Brauch H,

Hamann U, Tessier DC, Vincent D, Nevanlinna H, Khan S, Matsuo K, Ito H, Dörk T, Bogdanova

NV, Lindblom A, Margolin S, Mannermaa A, Kosma VM; kConFab/AOCS Investigators., Wu

AH, Van Den Berg D, Lambrechts D, Floris G, Chang-Claude J, Rudolph A, Radice P, Barile M,

Couch FJ, Hallberg E, Giles GG, Haiman CA, Le Marchand L, Goldberg MS, Teo SH, Yip CH,

Borresen-Dale AL; NBCS Collaborators., Zheng W, Cai Q, Winqvist R, Pylkäs K, Andrulis IL,

Devilee P, Tollenaar RA, García-Closas M, Figueroa J, Hall P, Czene K, Brand JS, Darabi H,

Eriksson M, Hooning MJ, Koppert LB, Li J, Shu XO, Zheng Y, Cox A, Cross SS, Shah M,

Rhenius V, Choi JY, Kang D, Hartman M, Chia KS, Kabisch M, Torres D, Luccarini C, Conroy

DM, Jakubowska A, Lubinski J, Sangrajrang S, Brennan P, Olswold C, Slager S, Shen CY, Hou

MF, Swerdlow A, Schoemaker MJ, Simard J, Pharoah PD, Kristensen V, Chenevix-Trench G,

Easton DF, Dunning AM, Edwards SL.

Am J Hum Genet. 2016 Oct 6;99(4):903-911. doi: 10.1016/j.ajhg.2016.07.017. PMID: 27640304 FACTOR DE IMPACTO: 10.794 CUARTIL: D1

34. Clinical Subgroups in Bilateral Meniere Disease.

Frejo L, Soto-Varela A, Santos-Perez S, Aran I, Batuecas-Caletrio A, Perez-Guillen V, Perez-

Garrigues H, Fraile J, Martin-Sanz E, Tapia MC, Trinidad G, García-Arumi AM, González-

Aguado R, Espinosa-Sanchez JM, Marques P, Perez P, Benitez J, Lopez-Escamez JA. Front

Neurol. 2016 Oct 24; 7:182. eCollection 2016. PubMed Central PMCID: PMC5075646.

PMID: 27822199


35. Prognostic value of automated KI67 scoring in breast cancer: a centralised evaluation

of 8088 patients from 10 study groups.

Abubakar M, Orr N, Daley F, Coulson P, Ali HR, Blows F, Benitez J, Milne R, Brenner H,

Stegmaier C, Mannermaa A, Chang-Claude J, Rudolph A, Sinn P, Couch FJ, Devilee P,

Tollenaar RA, Seynaeve C, Figueroa J, Sherman ME, Lissowska J, Hewitt S, Eccles D,

Hooning MJ, Hollestelle A, Martens JW, van Deurzen CH, Investigators K, Bolla MK, Wang Q,

Jones M, Schoemaker M, Wesseling J, van Leeuwen FE, Van 't Veer L, Easton D, Swerdlow

AJ, Dowsett M, Pharoah PD, Schmidt MK, Garcia-Closas M. Breast Cancer Res. 2016 Oct

18;18(1):104. PubMed Central PMCID: PMC5070183.

PMID: 27756439


58

CUARTIL: Q1

36. rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not

associated with breast cancer risk.

Liu J, Lončar I, Collée JM, Bolla MK, Dennis J, Michailidou K, Wang Q, Andrulis IL, Barile M,

Beckmann MW, Behrens S, Benitez J, Blomqvist C, Boeckx B, Bogdanova NV, Bojesen SE,

Brauch H, Brennan P, Brenner H, Broeks A, Burwinkel B, Chang-Claude J, Chen ST,

Chenevix-Trench G, Cheng CY, Choi JY, Couch FJ, Cox A, Cross SS, Cuk K, Czene K, Dörk T,

Dos-Santos-Silva I, Fasching PA, Figueroa J, Flyger H, García-Closas M, Giles GG, Glendon G,

Goldberg MS, González-Neira A, Guénel P, Haiman CA, Hamann U, Hart SN, Hartman M,

Hatse S, Hopper JL, Ito H, Jakubowska A, Kabisch M, Kang D, Kosma VM, Kristensen VN, Le

Marchand L, Lee E, Li J, Lophatananon A, Jan Lubinski, Mannermaa A, Matsuo K, Milne RL;

NBCS Collaborators., Neuhausen SL, Nevanlinna H, Orr N, Perez JI, Peto J, Putti TC, Pylkäs K,

Radice P, Sangrajrang S, Sawyer EJ, Schmidt MK, Schneeweiss A, Shen CY, Shrubsole MJ,

Shu XO, Simard J, Southey MC, Swerdlow A, Teo SH, Tessier DC, Thanasitthichai S,

Tomlinson I, Torres D, Truong T, Tseng CC, Vachon C, Winqvist R, Wu AH, Yannoukakos D,

Zheng W, Hall P, Dunning AM, Easton DF, Hooning MJ, van den Ouweland AM, Martens JW,

Hollestelle A. Sci Rep. 2016 Nov 15; 6:36874. doi: 10.1038/srep36874. PubMed Central

PMCID: PMC5109293.


PUBLICACIONES 2017

1. Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international

sample of 32,295 women.

Rebbeck TR, Friebel TM, Mitra N, Wan F, Chen S, Andrulis IL, Apostolou P, Arnold N, Arun BK,

Barrowdale D, Benitez J, Berger R, Berthet P, Borg A, Buys SS, Caldes T, Carter J, Chiquette

J, Claes KB, Couch FJ, Cybulski C, Daly MB, de la Hoya M, Diez O, Domchek SM, Nathanson

KL, Durda K, Ellis S; EMBRACE., Evans DG, Foretova L, Friedman E, Frost D, Ganz PA,

Garber J, Glendon G, Godwin AK, Greene MH, Gronwald J, Hahnen E, Hallberg E, Hamann U,

Hansen TV; HEBON., Imyanitov EN, Isaacs C, Jakubowska A, Janavicius R, Jaworska-Bieniek

K, John EM, Karlan BY, Kaufman B, Investigators K, Kwong A, Laitman Y, Lasset C, Lazaro C,

Lester J, Loman N, Lubinski J, Manoukian S, Mitchell G, Montagna M, Neuhausen SL,

Nevanlinna H, Niederacher D, Nussbaum RL, Offit K, Olah E, Olopade OI, Park SK, Piedmonte

M, Radice P, Rappaport-Fuerhauser C, Rookus MA, Seynaeve C, Simard J, Singer CF, Soucy

P, Southey M, Stoppa-Lyonnet D, Sukiennicki G, Szabo CI, Tancredi M, Teixeira MR, Teo SH,

Terry MB, Thomassen M, Tihomirova L, Tischkowitz M, Toland AE, Toloczko-Grabarek A, Tung

N, van Rensburg EJ, Villano D, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Zidan J, Zorn

59

KK, McGuffog L, Easton D, Chenevix-Trench G, Antoniou AC, Ramus SJ. Breast Cancer Res.

2016 Nov 11;18(1):112. PubMed Central PMCID: PMC5106833.

PMID: 27836010


2. rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated

with breast cancer risk.

Liu J, Lončar I, Collée JM, Bolla MK, Dennis J, Michailidou K, Wang Q, Andrulis IL, Barile M,

Beckmann MW, Behrens S, Benitez J, Blomqvist C, Boeckx B, Bogdanova NV, Bojesen SE,

Brauch H, Brennan P, Brenner H, Broeks A, Burwinkel B, Chang-Claude J, Chen ST,

Chenevix-Trench G, Cheng CY, Choi JY, Couch FJ, Cox A, Cross SS, Cuk K, Czene K, Dörk T,

Dos-Santos-Silva I, Fasching PA, Figueroa J, Flyger H, García-Closas M, Giles GG, Glendon G,

Goldberg MS, González-Neira A, Guénel P, Haiman CA, Hamann U, Hart SN, Hartman M,

Hatse S, Hopper JL, Ito H, Jakubowska A, Kabisch M, Kang D, Kosma VM, Kristensen VN, Le

Marchand L, Lee E, Li J, Lophatananon A, Jan Lubinski, Mannermaa A, Matsuo K, Milne RL;

NBCS Collaborators., Neuhausen SL, Nevanlinna H, Orr N, Perez JI, Peto J, Putti TC, Pylkäs K,

Radice P, Sangrajrang S, Sawyer EJ, Schmidt MK, Schneeweiss A, Shen CY, Shrubsole MJ,

Shu XO, Simard J, Southey MC, Swerdlow A, Teo SH, Tessier DC, Thanasitthichai S,

Tomlinson I, Torres D, Truong T, Tseng CC, Vachon C, Winqvist R, Wu AH, Yannoukakos D,

Zheng W, Hall P, Dunning AM, Easton DF, Hooning MJ, van den Ouweland AM, Martens JW,

Hollestelle A. Sci Rep. 2016 Nov 15; 6:36874. doi: 10.1038/srep36874. PubMed Central

PMCID: PMC5109293.

PMID: 27845421


3. Association of breast cancer risk with genetic variants showing differential allelic

expression: Identification of a novel breast cancer susceptibility locus at 4q21.

Hamdi Y, Soucy P, Adoue V, Michailidou K, Canisius S, Lemaçon A, Droit A, Andrulis IL, Anton-

Culver H, Arndt V, Baynes C, Blomqvist C, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B,

Borresen-Dale AL, Brand JS, Brauch H, Brenner H, Broeks A, Burwinkel B, Chang-Claude J;

NBCS Collaborators., Couch FJ, Cox A, Cross SS, Czene K, Darabi H, Dennis J, Devilee P,

Dörk T, Dos-Santos-Silva I, Eriksson M, Fasching PA, Figueroa J, Flyger H, García-Closas M,

Giles GG, Goldberg MS, González-Neira A, Grenaker-Alnæs G, Guénel P, Haeberle L, Haiman

CA, Hamann U, Hallberg E, Hooning MJ, Hopper JL, Jakubowska A, Jones M, Kabisch M,

Kataja V, Lambrechts D, Le Marchand L, Lindblom A, Lubinski J, Mannermaa A, Maranian M,

Margolin S, Marme F, Milne RL, Neuhausen SL, Nevanlinna H, Neven P, Olswold C, Peto J,

60

Plaseska-Karanfilska D, Pylkäs K, Radice P, Rudolph A, Sawyer EJ, Schmidt MK, Shu XO,

Southey MC, Swerdlow A, Tollenaar RA, Tomlinson I, Torres D, Truong T, Vachon C, Van Den

Ouweland AM, Wang Q, Winqvist R; kConFab/AOCS Investigators., Zheng W, Benitez J,

Chenevix-Trench G, Dunning AM, Pharoah PD, Kristensen V, Hall P, Easton DF, Pastinen T,

Nord S, Simard J. Oncotarget. 2016 Dec 6;7(49):80140-80163. doi:

10.18632/oncotarget.12818. PubMed Central PMCID: PMC5340257.

PMID: 27792995


4. Germline missense pathogenic variants in the BRCA1 BRCT domain, p.Gly1706Glu

and p.Ala1708Glu, increase cellular sensitivity to PARP inhibitor olaparib by a dominant

negative effect.

Vaclová T, Woods NT, Megías D, Gomez-Lopez S, Setién F, García Bueno JM, Macías JA,

Barroso A, Urioste M, Esteller M, Monteiro ANA, Benítez J, Osorio A. Hum Mol Genet. 2016

Dec 15;25(24):5287-5299. doi: 10.1093/hmg/ddw343.

PMID: 27742776


5. Association of breast cancer risk with genetic variants showing differential allelic

expression: Identification of a novel breast cancer susceptibility locus at 4q21.

Hamdi Y, Soucy P, Adoue V, Michailidou K, Canisius S, Lemaçon A, Droit A, Andrulis IL, Anton-

Culver H, Arndt V, Baynes C, Blomqvist C, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B,

Borresen-Dale AL, Brand JS, Brauch H, Brenner H, Broeks A, Burwinkel B, Chang-Claude J;

NBCS Collaborators., Couch FJ, Cox A, Cross SS, Czene K, Darabi H, Dennis J, Devilee P,

Dörk T, Dos-Santos-Silva I, Eriksson M, Fasching PA, Figueroa J, Flyger H, García-Closas M,

Giles GG, Goldberg MS, González-Neira A, Grenaker-Alnæs G, Guénel P, Haeberle L, Haiman

CA, Hamann U, Hallberg E, Hooning MJ, Hopper JL, Jakubowska A, Jones M, Kabisch M,

Kataja V, Lambrechts D, Le Marchand L, Lindblom A, Lubinski J, Mannermaa A, Maranian M,

Margolin S, Marme F, Milne RL, Neuhausen SL, Nevanlinna H, Neven P, Olswold C, Peto J,

Plaseska-Karanfilska D, Pylkäs K, Radice P, Rudolph A, Sawyer EJ, Schmidt MK, Shu XO,

Southey MC, Swerdlow A, Tollenaar RA, Tomlinson I, Torres D, Truong T, Vachon C, Van Den

Ouweland AM, Wang Q, Winqvist R; kConFab/AOCS Investigators., Zheng W, Benitez J,

Chenevix-Trench G, Dunning AM, Pharoah PD, Kristensen V, Hall P, Easton DF, Pastinen T,

Nord S, Simard J. Oncotarget. 2016 Dec 6;7(49):80140-80163. doi:

10.18632/oncotarget.12818. PubMed Central PMCID: PMC5340257.

PMID: 27792995


61

CUARTIL: Q1

6. Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic

variants showing differential allelic expression: identification of a modifier of breast

cancer risk at locus 11q22.3.

Hamdi Y, Soucy P, Kuchenbaeker KB, Pastinen T, Droit A, Lemaçon A, Adlard J, Aittomäki K,

Andrulis IL, Arason A, Arnold N, Arun BK, Azzollini J, Bane A, Barjhoux L, Barrowdale D,

Benitez J, Berthet P, Blok MJ, Bobolis K, Bonadona V, Bonanni B, Bradbury AR, Brewer C,

Buecher B, Buys SS, Caligo MA, Chiquette J, Chung WK, Claes KB, Daly MB, Damiola F,

Davidson R, De la Hoya M, De Leeneer K, Diez O, Ding YC, Dolcetti R, Domchek SM, Dorfling

CM, Eccles D, Eeles R, Einbeigi Z, Ejlertsen B; EMBRACE., Engel C, Gareth Evans D,

Feliubadalo L, Foretova L, Fostira F, Foulkes WD, Fountzilas G, Friedman E, Frost D,

Ganschow P, Ganz PA, Garber J, Gayther SA; GEMO Study Collaborators., Gerdes AM,

Glendon G, Godwin AK, Goldgar DE, Greene MH, Gronwald J, Hahnen E, Hamann U, Hansen

TV, Hart S, Hays JL; HEBON., Hogervorst FB, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L,

Jakubowska A, James P, Janavicius R, Jensen UB, John EM, Joseph V, Just W, Kaczmarek K,

Karlan BY; KConFab Investigators., Kets CM, Kirk J, Kriege M, Laitman Y, Laurent M, Lazaro

C, Leslie G, Lester J, Lesueur F, Liljegren A, Loman N, Loud JT, Manoukian S, Mariani M,

Mazoyer S, McGuffog L, Meijers-Heijboer HE, Meindl A, Miller A, Montagna M, Mulligan AM,

Nathanson KL, Neuhausen SL, Nevanlinna H, Nussbaum RL, Olah E, Olopade OI, Ong KR,

Oosterwijk JC, Osorio A, Papi L, Park SK, Pedersen IS, Peissel B, Segura PP, Peterlongo P,

Phelan CM, Radice P, Rantala J, Rappaport-Fuerhauser C, Rennert G, Richardson A, Robson

M, Rodriguez GC, Rookus MA, Schmutzler RK, Sevenet N, Shah PD, Singer CF, Slavin TP,

Snape K, Sokolowska J, Sønderstrup IM, Southey M, Spurdle AB, Stadler Z, Stoppa-Lyonnet D,

Sukiennicki G, Sutter C, Tan Y, Tea MK, Teixeira MR, Teulé A, Teo SH, Terry MB, Thomassen

M, Tihomirova L, Tischkowitz M, Tognazzo S, Toland AE, Tung N, van den Ouweland AM, van

der Luijt RB, van Engelen K, van Rensburg EJ, Varon-Mateeva R, Wappenschmidt B, Wijnen

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7. Extended phenotype and clinical subgroups in unilateral Meniere disease: A cross-

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Frejo L, Martin-Sanz E, Teggi R, Trinidad G, Soto-Varela A, Santos-Perez S, Manrique R, Perez

N, Aran I, Almeida-Branco MS, Batuecas-Caletrio A, Fraile J, Espinosa-Sanchez JM, Perez-

Guillen V, Perez-Garrigues H, Oliva-Dominguez M, Aleman O, Benitez J, Perez P, Lopez-

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8. Almost 2% of Spanish breast cancer families are associated to germline pathogenic

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Tavera-Tapia A, Pérez-Cabornero L, Macías JA, Ceballos MI, Roncador G, de la Hoya M,

Barroso A, Felipe-Ponce V, Serrano-Blanch R, Hinojo C, Miramar-Gallart MD, Urioste M,

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Shimelis H, Mesman RLS, Von Nicolai C, Ehlen A, Guidugli L, Martin C, Calléja FMGR, Meeks

H, Hallberg E, Hinton J, Lilyquist J, Hu C, Aalfs CM, Aittomäki K, Andrulis I, Anton-Culver H,

Arndt V, Beckmann MW, Benitez J, Bogdanova NV, Bojesen SE, Bolla MK, Borresen-Dale AL,

Brauch H, Brennan P, Brenner H, Broeks A, Brouwers B, Brüning T, Burwinkel B, Chang-

Claude J, Chenevix-Trench G; for kConFab/AOCS Investigators., Cheng CY, Choi JY, Collée

JM, Cox A, Cross SS, Czene K, Darabi H, Dennis J, Dörk T, Dos-Santos-Silva I, Dunning AM,

Fasching PA, Figueroa J, Flyger H, García-Closas M, Giles GG, Glendon G, Guénel P, Haiman

CA, Hall P, Hamann U, Hartman M, Hogervorst FB, Hollestelle A, Hopper JL, Ito H,

Jakubowska A, Kang D, Kosma VM, Kristensen V; for NBCS Collaborators., Lai KN,

Lambrechts D, Marchand LL, Li J, Lindblom A, Lophatananon A, Lubinski J, Machackova E,

Mannermaa A, Margolin S, Marme F, Matsuo K, Miao H, Michailidou K, Milne RL, Muir K,

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Peto J, Pharoah PDP, Pylkäs K, Radice P, Rashid MU, Rhenius V, Rudolph A, Sangrajrang S,

Sawyer EJ, Schmidt MK, Schoemaker MJ, Seynaeve C, Shah M, Shen CY, Shrubsole M, Shu

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Meindl A, Schmutzler RK; GEMO Study Collaborators., Isaacs C, Peshkin BN, Caldes T,

Hogervorst FB; HEBON., Lazaro C, Jakubowska A, Montagna M; KConFab Investigators.,

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11. Genomic analyses identify hundreds of variants associated with age at menarche and

support a role for puberty timing in cancer risk.

Day FR, Thompson DJ, Helgason H, Chasman DI, Finucane H, Sulem P, Ruth KS, Whalen S,

Sarkar AK, Albrecht E, Altmaier E, Amini M, Barbieri CM, Boutin T, Campbell A, Demerath E,

Giri A, He C, Hottenga JJ, Karlsson R, Kolcic I, Loh PR, Lunetta KL, Mangino M, Marco B,

McMahon G, Medland SE, Nolte IM, Noordam R, Nutile T, Paternoster L, Perjakova N, Porcu E,

Rose LM, Schraut KE, Segrè AV, Smith AV, Stolk L, Teumer A, Andrulis IL, Bandinelli S,

Beckmann MW, Benitez J, Bergmann S, Bochud M, Boerwinkle E, Bojesen SE, Bolla MK,

Brand JS, Brauch H, Brenner H, Broer L, Brüning T, Buring JE, Campbell H, Catamo E,

Chanock S, Chenevix-Trench G, Corre T, Couch FJ, Cousminer DL, Cox A, Crisponi L, Czene

K, Davey Smith G, de Geus EJCN, de Mutsert R, De Vivo I, Dennis J, Devilee P, Dos-Santos-

Silva I, Dunning AM, Eriksson JG, Fasching PA, Fernández-Rhodes L, Ferrucci L, Flesch-Janys

D, Franke L, Gabrielson M, Gandin I, Giles GG, Grallert H, Gudbjartsson DF, Guénel P, Hall P,

Hallberg E, Hamann U, Harris TB, Hartman CA, Heiss G, Hooning MJ, Hopper JL, Hu F, Hunter

DJ, Ikram MA, Im HK, Järvelin MR, Joshi PK, Karasik D, Kellis M, Kutalik Z, LaChance G,

Lambrechts D, Langenberg C, Launer LJ, Laven JSE, Lenarduzzi S, Li J, Lind PA, Lindstrom S,

Liu Y, Luan J, Mägi R, Mannermaa A, Mbarek H, McCarthy MI, Meisinger C, Meitinger T, Menni

C, Metspalu A, Michailidou K, Milani L, Milne RL, Montgomery GW, Mulligan AM, Nalls MA,

Navarro P, Nevanlinna H, Nyholt DR, Oldehinkel AJ, O'Mara TA, Padmanabhan S, Palotie A,

Pedersen N, Peters A, Peto J, Pharoah PDP, Pouta A, Radice P, Rahman I, Ring SM, Robino

A, Rosendaal FR, Rudan I, Rueedi R, Ruggiero D, Sala CF, Schmidt MK, Scott RA, Shah M,

Sorice R, Southey MC, Sovio U, Stampfer M, Steri M, Strauch K, Tanaka T, Tikkanen E,

Timpson NJ, Traglia M, Truong T, Tyrer JP, Uitterlinden AG, Edwards DRV, Vitart V, Völker U,

Vollenweider P, Wang Q, Widen E, van Dijk KW, Willemsen G, Winqvist R, Wolffenbuttel BHR,

Zhao JH, Zoledziewska M, Zygmunt M, Alizadeh BZ, Boomsma DI, Ciullo M, Cucca F, Esko T,

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Franceschini N, Gieger C, Gudnason V, Hayward C, Kraft P, Lawlor DA, Magnusson PKE,

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Snieder H, Spector TD, Stöckl D, Toniolo D, Ulivi S, Visser JA, Völzke H, Wareham NJ, Wilson

JF; LifeLines Cohort Study.; InterAct Consortium.; kConFab/AOCS Investigators.; Endometrial

Cancer Association Consortium.; Ovarian Cancer Association Consortium.; PRACTICAL

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12. Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase

genes expression and telomere shortening.

Carrillo J, Calvete O, Pintado-Berninches L, Manguan-García C, Sevilla Navarro J, Arias-

Salgado EG, Sastre L, Guenechea G, López Granados E, de Villartay JP, Revy P, Benitez J,

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13. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian

cancer.

Phelan CM, Kuchenbaecker KB, Tyrer JP, Kar SP, Lawrenson K, Winham SJ, Dennis J, Pirie

A, Riggan MJ, Chornokur G, Earp MA, Lyra PC Jr, Lee JM, Coetzee S, Beesley J, McGuffog L,

Soucy P, Dicks E, Lee A, Barrowdale D, Lecarpentier J, Leslie G, Aalfs CM, Aben KKH, Adams

M, Adlard J, Andrulis IL, Anton-Culver H, Antonenkova N; AOCS study group., Aravantinos G,

Arnold N, Arun BK, Arver B, Azzollini J, Balmaña J, Banerjee SN, Barjhoux L, Barkardottir RB,

Bean Y, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Birrer MJ,

Bjorge L, Black A, Blankstein K, Blok MJ, Bodelon C, Bogdanova N, Bojesen A, Bonanni B,

Borg Å, Bradbury AR, Brenton JD, Brewer C, Brinton L, Broberg P, Brooks-Wilson A, Bruinsma

F, Brunet J, Buecher B, Butzow R, Buys SS, Caldes T, Caligo MA, Campbell I, Cannioto R,

Carney ME, Cescon T, Chan SB, Chang-Claude J, Chanock S, Chen XQ, Chiew YE, Chiquette

J, Chung WK, Claes KBM, Conner T, Cook LS, Cook J, Cramer DW, Cunningham JM, D'Aloisio

AA, Daly MB, Damiola F, Damirovna SD, Dansonka-Mieszkowska A, Dao F, Davidson R,

DeFazio A, Delnatte C, Doheny KF, Diez O, Ding YC, Doherty JA, Domchek SM, Dorfling CM,

Dörk T, Dossus L, Duran M, Dürst M, Dworniczak B, Eccles D, Edwards T, Eeles R, Eilber U,

Ejlertsen B, Ekici AB, Ellis S, Elvira M; EMBRACE Study., Eng KH, Engel C, Evans DG,

Fasching PA, Ferguson S, Ferrer SF, Flanagan JM, Fogarty ZC, Fortner RT, Fostira F, Foulkes

WD, Fountzilas G, Fridley BL, Friebel TM, Friedman E, Frost D, Ganz PA, Garber J, García MJ,

65

Garcia-Barberan V, Gehrig A; GEMO Study Collaborators., Gentry-Maharaj A, Gerdes AM,

Giles GG, Glasspool R, Glendon G, Godwin AK, Goldgar DE, Goranova T, Gore M, Greene

MH, Gronwald J, Gruber S, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hansen TVO,

Harrington PA, Harris HR, Hauke J; HEBON Study., Hein A, Henderson A, Hildebrandt MAT,

Hillemanns P, Hodgson S, Høgdall CK, Høgdall E, Hogervorst FBL, Holland H, Hooning MJ,

Hosking K, Huang RY, Hulick PJ, Hung J, Hunter DJ, Huntsman DG, Huzarski T, Imyanitov EN,

Isaacs C, Iversen ES, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, Jernetz M,

Jensen A, Jensen UB, John EM, Johnatty S, Jones ME, Kannisto P, Karlan BY, Karnezis A,

Kast K; KConFab Investigators., Kennedy CJ, Khusnutdinova E, Kiemeney LA, Kiiski JI, Kim

SW, Kjaer SK, Köbel M, Kopperud RK, Kruse TA, Kupryjanczyk J, Kwong A, Laitman Y,

Lambrechts D, Larrañaga N, Larson MC, Lazaro C, Le ND, Le Marchand L, Lee JW, Lele SB,

Leminen A, Leroux D, Lester J, Lesueur F, Levine DA, Liang D, Liebrich C, Lilyquist J, Lipworth

L, Lissowska J, Lu KH, Lubinński J, Luccarini C, Lundvall L, Mai PL, Mendoza-Fandiño G,

Manoukian S, Massuger LFAG, May T, Mazoyer S, McAlpine JN, McGuire V, McLaughlin JR,

McNeish I, Meijers-Heijboer H, Meindl A, Menon U, Mensenkamp AR, Merritt MA, Milne RL,

Mitchell G, Modugno F, Moes-Sosnowska J, Moffitt M, Montagna M, Moysich KB, Mulligan AM,

Musinsky J, Nathanson KL, Nedergaard L, Ness RB, Neuhausen SL, Nevanlinna H,

Niederacher D, Nussbaum RL, Odunsi K, Olah E, Olopade OI, Olsson H, Olswold C, O'Malley

DM, Ong KR, Onland-Moret NC; OPAL study group., Orr N, Orsulic S, Osorio A, Palli D, Papi L,

Park-Simon TW, Paul J, Pearce CL, Pedersen IS, Peeters PHM, Peissel B, Peixoto A, Pejovic

T, Pelttari LM, Permuth JB, Peterlongo P, Pezzani L, Pfeiler G, Phillips KA, Piedmonte M, Pike

MC, Piskorz AM, Poblete SR, Pocza T, Poole EM, Poppe B, Porteous ME, Prieur F, Prokofyeva

D, Pugh E, Pujana MA, Pujol P, Radice P, Rantala J, Rappaport-Fuerhauser C, Rennert G,

Rhiem K, Rice P, Richardson A, Robson M, Rodriguez GC, Rodríguez-Antona C, Romm J,

Rookus MA, Rossing MA, Rothstein JH, Rudolph A, Runnebaum IB, Salvesen HB, Sandler DP,

Schoemaker MJ, Senter L, Setiawan VW, Severi G, Sharma P, Shelford T, Siddiqui N, Side LE,

Sieh W, Singer CF, Sobol H, Song H, Southey MC, Spurdle AB, Stadler Z, Steinemann D,

Stoppa-Lyonnet D, Sucheston-Campbell LE, Sukiennicki G, Sutphen R, Sutter C, Swerdlow AJ,

Szabo CI, Szafron L, Tan YY, Taylor JA, Tea MK, Teixeira MR, Teo SH, Terry KL, Thompson

PJ, Thomsen LCV, Thull DL, Tihomirova L, Tinker AV, Tischkowitz M, Tognazzo S, Toland AE,

Tone A, Trabert B, Travis RC, Trichopoulou A, Tung N, Tworoger SS, van Altena AM, Van Den

Berg D, van der Hout AH, van der Luijt RB, Van Heetvelde M, Van Nieuwenhuysen E, van

Rensburg EJ, Vanderstichele A, Varon-Mateeva R, Vega A, Edwards DV, Vergote I, Vierkant

RA, Vijai J, Vratimos A, Walker L, Walsh C, Wand D, Wang-Gohrke S, Wappenschmidt B,

Webb PM, Weinberg CR, Weitzel JN, Wentzensen N, Whittemore AS, Wijnen JT, Wilkens LR,

Wolk A, Woo M, Wu X, Wu AH, Yang H, Yannoukakos D, Ziogas A, Zorn KK, Narod SA, Easton

DF, Amos CI, Schildkraut JM, Ramus SJ, Ottini L, Goodman MT, Park SK, Kelemen LE, Risch

HA, Thomassen M, Offit K, Simard J, Schmutzler RK, Hazelett D, Monteiro AN, Couch FJ,

Berchuck A, Chenevix-Trench G, Goode EL, Sellers TA, Gayther SA, Antoniou AC, Pharoah

PDP. Nat Genet. 2017 May;49(5):680-691. doi: 10.1038/ng.3826. Epub 2017 Mar 27.

PMID: 28346442


66

14. A cumulative effect involving malfunction of the PTH1R and ATP4A genes explains a

familial gastric neuroendocrine tumor with hypothyroidism and arthritis.

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PMID: 28474257


15. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian

cancer.

Phelan CM, Kuchenbaecker KB, Tyrer JP, Kar SP, Lawrenson K, Winham SJ, Dennis J, Pirie A,

Riggan MJ, Chornokur G, Earp MA, Lyra PC Jr, Lee JM, Coetzee S, Beesley J, McGuffog L,

Soucy P, Dicks E, Lee A, Barrowdale D, Lecarpentier J, Leslie G, Aalfs CM, Aben KKH, Adams

M, Adlard J, Andrulis IL, Anton-Culver H, Antonenkova N; AOCS study group, Aravantinos G,

Arnold N, Arun BK, Arver B, Azzollini J, Balmaña J, Banerjee SN, Barjhoux L, Barkardottir RB,

Bean Y, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Birrer MJ,

Bjorge L, Black A, Blankstein K, Blok MJ, Bodelon C, Bogdanova N, Bojesen A, Bonanni B,

Borg Å, Bradbury AR, Brenton JD, Brewer C, Brinton L, Broberg P, Brooks-Wilson A, Bruinsma

F, Brunet J, Buecher B, Butzow R, Buys SS, Caldes T, Caligo MA, Campbell I, Cannioto R,

Carney ME, Cescon T, Chan SB, Chang-Claude J, Chanock S, Chen XQ, Chiew YE, Chiquette

J, Chung WK, Claes KBM, Conner T, Cook LS, Cook J, Cramer DW, Cunningham JM, D'Aloisio

AA, Daly MB, Damiola F, Damirovna SD, Dansonka-Mieszkowska A, Dao F, Davidson R,

DeFazio A, Delnatte C, Doheny KF, Diez O, Ding YC, Doherty JA, Domchek SM, Dorfling CM,

Dörk T, Dossus L, Duran M, Dürst M, Dworniczak B, Eccles D, Edwards T, Eeles R, Eilber U,

Ejlertsen B, Ekici AB, Ellis S, Elvira M; EMBRACE Study, Eng KH, Engel C, Evans DG,

Fasching PA, Ferguson S, Ferrer SF, Flanagan JM, Fogarty ZC, Fortner RT, Fostira F, Foulkes

WD, Fountzilas G, Fridley BL, Friebel TM, Friedman E, Frost D, Ganz PA, Garber J, García MJ,

Garcia-Barberan V, Gehrig A; GEMO Study Collaborators, Gentry-Maharaj A, Gerdes AM, Giles

GG, Glasspool R, Glendon G, Godwin AK, Goldgar DE, Goranova T, Gore M, Greene MH,

Gronwald J, Gruber S, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hansen TVO,

Harrington PA, Harris HR, Hauke J; HEBON Study, Hein A, Henderson A, Hildebrandt MAT,

Hillemanns P, Hodgson S, Høgdall CK, Høgdall E, Hogervorst FBL, Holland H, Hooning MJ,

Hosking K, Huang RY, Hulick PJ, Hung J, Hunter DJ, Huntsman DG, Huzarski T, Imyanitov EN,

Isaacs C, Iversen ES, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, Jernetz M,

Jensen A, Jensen UB, John EM, Johnatty S, Jones ME, Kannisto P, Karlan BY, Karnezis A,

Kast K; KConFab Investigators, Kennedy CJ, Khusnutdinova E, Kiemeney LA, Kiiski JI, Kim

SW, Kjaer SK, Köbel M, Kopperud RK, Kruse TA, Kupryjanczyk J, Kwong A, Laitman Y,

Lambrechts D, Larrañaga N, Larson MC, Lazaro C, Le ND, Le Marchand L, Lee JW, Lele SB,

Leminen A, Leroux D, Lester J, Lesueur F, Levine DA, Liang D, Liebrich C, Lilyquist J, Lipworth

L, Lissowska J, Lu KH, Lubinński J, Luccarini C, Lundvall L, Mai PL, Mendoza-Fandiño G,

Manoukian S, Massuger LFAG, May T, Mazoyer S, McAlpine JN, McGuire V, McLaughlin JR,

67

McNeish I, Meijers-Heijboer H, Meindl A, Menon U, Mensenkamp AR, Merritt MA, Milne RL,

Mitchell G, Modugno F, Moes-Sosnowska J, Moffitt M, Montagna M, Moysich KB, Mulligan AM,

Musinsky J, Nathanson KL, Nedergaard L, Ness RB, Neuhausen SL, Nevanlinna H,

Niederacher D, Nussbaum RL, Odunsi K, Olah E, Olopade OI, Olsson H, Olswold C, O'Malley

DM, Ong KR, Onland-Moret NC; OPAL study group, Orr N, Orsulic S, Osorio A, Palli D, Papi L,

Park-Simon TW, Paul J, Pearce CL, Pedersen IS, Peeters PHM, Peissel B, Peixoto A, Pejovic

T, Pelttari LM, Permuth JB, Peterlongo P, Pezzani L, Pfeiler G, Phillips KA, Piedmonte M, Pike

MC, Piskorz AM, Poblete SR, Pocza T, Poole EM, Poppe B, Porteous ME, Prieur F, Prokofyeva

D, Pugh E, Pujana MA, Pujol P, Radice P, Rantala J, Rappaport-Fuerhauser C, Rennert G,

Rhiem K, Rice P, Richardson A, Robson M, Rodriguez GC, Rodríguez-Antona C, Romm J,

Rookus MA, Rossing MA, Rothstein JH, Rudolph A, Runnebaum IB, Salvesen HB, Sandler DP,

Schoemaker MJ, Senter L, Setiawan VW, Severi G, Sharma P, Shelford T, Siddiqui N, Side LE,

Sieh W, Singer CF, Sobol H, Song H, Southey MC, Spurdle AB, Stadler Z, Steinemann D,

Stoppa-Lyonnet D, Sucheston-Campbell LE, Sukiennicki G, Sutphen R, Sutter C, Swerdlow AJ,

Szabo CI, Szafron L, Tan YY, Taylor JA, Tea MK, Teixeira MR, Teo SH, Terry KL, Thompson

PJ, Thomsen LCV, Thull DL, Tihomirova L, Tinker AV, Tischkowitz M, Tognazzo S, Toland AE,

Tone A, Trabert B, Travis RC, Trichopoulou A, Tung N, Tworoger SS, van Altena AM, Van Den

Berg D, van der Hout AH, van der Luijt RB, Van Heetvelde M, Van Nieuwenhuysen E, van

Rensburg EJ, Vanderstichele A, Varon-Mateeva R, Vega A, Edwards DV, Vergote I, Vierkant

RA, Vijai J, Vratimos A, Walker L, Walsh C, Wand D, Wang-Gohrke S, Wappenschmidt B,

Webb PM, Weinberg CR, Weitzel JN, Wentzensen N, Whittemore AS, Wijnen JT, Wilkens LR,

Wolk A, Woo M, Wu X, Wu AH, Yang H, Yannoukakos D, Ziogas A, Zorn KK, Narod SA, Easton

DF, Amos CI, Schildkraut JM, Ramus SJ, Ottini L, Goodman MT, Park SK, Kelemen LE, Risch

HA, Thomassen M, Offit K, Simard J, Schmutzler RK, Hazelett D, Monteiro AN, Couch FJ,

Berchuck A, Chenevix-Trench G, Goode EL, Sellers TA, Gayther SA, Antoniou AC, Pharoah

PDP. Nat Genet. 2017 May;49(5):680-691. doi: 10.1038/ng.3826. Epub 2017 Mar 27. PubMed


PMID: 28346442


16. Analyses of germline variants associated with ovarian cancer survival identify

functional candidates at the 1q22 and 19p12 outcome loci.

Glubb DM, Johnatty SE, Quinn MCJ, O'Mara TA, Tyrer JP, Gao B, Fasching PA, Beckmann

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18. Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and

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20. PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1.

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Lo WY, Loibl S, Long J, Loud JT, Lubinski J, Luccarini C, Lush M, MacInnis RJ, Maishman T,

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Guo Q, Burgess S, Turman C, Bolla MK, Wang Q, Lush M, Abraham J, Aittomäki K, Andrulis

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Fasching PA, Kommoss S, Deen S, Kjaer SK, Menon U, Brenton JD, Pharoah PDP, Chenevix-

Trench G, Huntsman DG, Winham SJ, Köbel M, Ramus SJ. JAMA Oncol. 2017 Dec 1;3(12):

e173290. doi: 10.1001/jamaoncol.2017.3290. PubMed Central PMCID: PMC5744673.

PMID: 29049607


75

PUBLICACIONES 2018

1. Exome array analysis identifies ETFB as a novel susceptibility gene for anthracycline-

induced cardiotoxicity in cancer patients.

Ruiz-Pinto S, Pita G, Martín M, Alonso-Gordoa T, Barnes DR, Alonso MR, Herraez B, García-

Miguel P, Alonso J, Pérez-Martínez A, Cartón AJ, Gutiérrez-Larraya F, García-Sáenz JA,

Benítez J, Easton DF, Patiño-García A, González-Neira A. Breast Cancer Res Treat. 2018

Jan;167(1):249-256. doi: 10.1007/s10549-017-4497-9. Epub 2017 Sep 14.

PMID: 28913729


2. Metabolic strategies for the degradation of the neuromodulator agmatine in mammals.

Benítez J, García D, Romero N, González A, Martínez-Oyanedel J, Figueroa M, Salas M, López

V, García-Robles M, Dodd PR, Schenk G, Carvajal N, Uribe E. Metabolism. 2018 Apr; 81:35-

44. doi: 10.1016/j.metabol.2017.11.005. Epub 2017 Nov 21. Review.

PMID: 29162499


3. Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show

risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.

Catucci I, Osorio A, Arver B, Neidhardt G, Bogliolo M, Zanardi F, Riboni M, Minardi S, Pujol R,

Azzollini J, Peissel B, Manoukian S, De Vecchi G, Casola S, Hauke J, Richters L, Rhiem K,

Schmutzler RK, Wallander K, Törngren T, Borg Å, Radice P, Surrallés J, Hahnen E, Ehrencrona

H, Kvist A, Benitez J, Peterlongo P. Genet Med. 2018 Apr;20(4):452-457. doi:

10.1038/gim.2017.123. Epub 2017 Aug 24.

PMID: 28837162


4. Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated

through IGFBP5 regulation.

Ghoussaini M, Edwards SL, Michailidou K, Nord S, Cowper-Sal Lari R, Desai K, Kar S, Hillman

KM, Kaufmann S, Glubb DM, Beesley J, Dennis J, Bolla MK, Wang Q, Dicks E, Guo Q, Schmidt

76

MK, Shah M, Luben R, Brown J, Czene K, Darabi H, Eriksson M, Klevebring D, Bojesen SE,

Nordestgaard BG, Nielsen SF, Flyger H, Lambrechts D, Thienpont B, Neven P, Wildiers H,

Broeks A, Van't Veer LJ, Rutgers EJT, Couch FJ, Olson JE, Hallberg E, Vachon C, Chang-

Claude J, Rudolph A, Seibold P, Flesch-Janys D, Peto J, Dos-Santos-Silva I, Gibson L,

Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Hall P, Li J, Liu J, Humphreys K, Kang D,

Choi JY, Park SK, Noh DY, Matsuo K, Ito H, Iwata H, Yatabe Y, Guénel P, Truong T, Menegaux

F, Sanchez M, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Wu AH, Tseng CC, Van Den

Berg D, Stram DO, Benitez J, Pilar Zamora M, Perez JIA, Menéndez P, Shu XO, Lu W, Gao YT,

Cai Q, Cox A, Cross SS, Reed MWR, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Sawyer

EJ, Tomlinson I, Kerin MJ, Miller N, Haiman CA, Henderson BE, Schumacher F, Le Marchand

L, Lindblom A, Margolin S, Teo SH, Yip CH, Lee DSC, Wong TY, Hooning MJ, Martens JWM,

Collée JM, van Deurzen CHM, Hopper JL, Southey MC, Tsimiklis H, Kapuscinski MK, Shen CY,

Wu PE, Yu JC, Chen ST, Alnæs GG, Borresen-Dale AL, Giles GG, Milne RL, McLean C, Muir

K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Hartman M, Miao H, Buhari SABS,

Teo YY, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Brenner H, Dieffenbach AK, Arndt

V, Stegmaier C, Swerdlow A, Ashworth A, Orr N, Schoemaker MJ, García-Closas M, Figueroa

J, Chanock SJ, Lissowska J, Simard J, Goldberg MS, Labrèche F, Dumont M, Winqvist R,

Pylkäs K, Jukkola-Vuorinen A, Brauch H, Brüning T, Koto YD, Radice P, Peterlongo P, Bonanni

B, Volorio S, Dörk T, Bogdanova NV, Helbig S, Mannermaa A, Kataja V, Kosma VM,

Hartikainen JM, Devilee P, Tollenaar RAEM, Seynaeve C, Van Asperen CJ, Jakubowska A,

Lubinski J, Jaworska-Bieniek K, Durda K, Slager S,Toland AE, Ambrosone CB, Yannoukakos

D, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Hamann U, Torres D, Zheng W, Long J,

Anton-Culver H, Neuhausen SL, Luccarini C, Baynes C, Ahmed S, Maranian M, Healey CS,

González-Neira A, Pita G, Rosario Alonso M, Álvarez N, Herrero D, Tessier DC, Vincent D,

Bacot F, de Santiago I, Carroll J, Caldas C, Brown MA, Lupien M, Kristensen VN, Pharoah

PDP, Chenevix-Trench G, French JD, Easton DF, Dunning AM. Nat Commun. 2018 Apr 10;

9:16193. doi: 10.1038/ncomms16193. PubMed Central PMCID: PMC5898457.

PMID: 29633761


5. Genomic characterization of individuals presenting extreme phenotypes of high and

low risk to develop tobacco-induced lung cancer.

Fusco JP, Pita G, Pajares MJ, Andueza MP, Patiño-García A, de-Torres JP, Gurpide A, Zulueta

J, Alonso R, Alvarez N, Pio R, Melero I, Sanmamed MF, Rodriguez Ruiz M, Gil-Bazo I, Lopez-

Picazo JM, Casanova C, Baz Davila R, Agudo A, Lozano MD, Gonzalez A, Sala N, Ardanaz E,

Benitez J, Montuenga L, Gonzalez-Neira A, Perez-Gracia JL. Cancer Med. 2018 May 15. doi:

10.1002/cam4.1500. [Epub ahead of print]; PubMed Central PMCID: PMC6051154.

PMID: 29766673


77

6. The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of

spliceogenicity.

Colombo M, Lòpez-Perolio I, Meeks HD, Caleca L, Parsons MT, Li H, De Vecchi G,Tudini E,

Foglia C, Mondini P, Manoukian S, Behar R, Garcia EBG, Meindl A, Montagna M, Niederacher

D, Schmidt AY, Varesco L, Wappenschmidt B, Bolla MK, Dennis J, Michailidou K, Wang Q,

Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Beckmann MW, Beeghly-Fadel A, Benitez J,

Boeckx B, Bogdanova NV, Bojesen SE, Bonanni B, Brauch H, Brenner H, Burwinkel B, Chang-

Claude J, Conroy DM, Couch FJ, Cox A, Cross SS, Czene K, Devilee P, Dörk T, Eriksson M,

Fasching PA, Figueroa J, Fletcher O, Flyger H, Gabrielson M, García-Closas M, Giles GG,

González-Neira A, Guénel P, Haiman CA, Hall P, Hamann U, Hartman M, Hauke J, Hollestelle

A, Hopper JL, Jakubowska A, Jung A, Kosma VM, Lambrechts D, Le Marchand L, Lindblom A,

Lubinski J, Mannermaa A, Margolin S, Miao H, Milne RL, Neuhausen SL, Nevanlinna H, Olson

JE, Peterlongo P, Peto J, Pylkäs K, Sawyer EJ, Schmidt MK, Schmutzler RK, Schneeweiss A,

Schoemaker MJ, See MH, Southey MC, Swerdlow A, Teo SH, Toland AE, Tomlinson I, Truong

T, van Asperen CJ, van den Ouweland AMW, van der Kolk LE, Winqvist R, Yannoukakos D,

Zheng W; kConFab/AOCS Investigators, Dunning AM, Easton DF, Henderson A, Hogervorst

FBL, Izatt L, Offitt K, Side LE, van Rensburg EJ, Embrace S, Hebon S, McGuffog L, Antoniou

AC, Chenevix-Trench G, Spurdle AB, Goldgar DE, Hoya M, Radice P. Hum Mutat. 2018

May;39(5):729-741. doi: 10.1002/humu.23411. Epub 2018 Apr 6. PubMed Central PMCID:

PMC5947288.

PMID: 29460995


7. A transcriptome-wide association study of 229,000 women identifies new candidate

susceptibility genes for breast cancer.

Wu L, Shi W, Long J, Guo X, Michailidou K, Beesley J, Bolla MK, Shu XO, Lu Y, Cai Q, Al-Ejeh

F, Rozali E, Wang Q, Dennis J, Li B, Zeng C, Feng H, Gusev A, Barfield RT, Andrulis IL, Anton-

Culver H, Arndt V, Aronson KJ, Auer PL, Barrdahl M, Baynes C, Beckmann MW, Benitez J,

Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Brauch H, Brenner H, Brinton L,

Broberg P, Brucker SY, Burwinkel B, Caldés T, Canzian F, Carter BD, Castelao JE, Chang-

Claude J, Chen X, Cheng TD, Christiansen H, Clarke CL; NBCS Collaborators, Collée M,

Cornelissen S, Couch FJ, Cox D, Cox A, Cross SS, Cunningham JM, Czene K, Daly MB,

Devilee P, Doheny KF, Dörk T, Dos-Santos-Silva I, Dumont M, Dwek M, Eccles DM, Eilber U,

Eliassen AH, Engel C, Eriksson M, Fachal L, Fasching PA, Figueroa J, Flesch-Janys D,

Fletcher O, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, Gapstur SM, García-

Closas M, Gaudet MM, Ghoussaini M, Giles GG, Goldberg MS, Goldgar DE, González-Neira A,

Guénel P, Hahnen E, Haiman CA, Håkansson N, Hall P, Hallberg E, Hamann U, Harrington P,

Hein A, Hicks B, Hillemanns P, Hollestelle A, Hoover RN, Hopper JL, Huang G, Humphreys K,

Hunter DJ, Jakubowska A, Janni W, John EM, Johnson N, Jones K, Jones ME, Jung A, Kaaks

78

R, Kerin MJ, Khusnutdinova E, Kosma VM, Kristensen VN, Lambrechts D, Le Marchand L, Li J,

Lindström S, Lissowska J, Lo WY, Loibl S, Lubinski J, Luccarini C, Lux MP, MacInnis RJ,

Maishman T, Kostovska IM, Mannermaa A, Manson JE, Margolin S, Mavroudis D, Meijers-

Heijboer H, Meindl A, Menon U, Meyer J, Mulligan AM, Neuhausen SL, Nevanlinna H, Neven P,

Nielsen SF, Nordestgaard BG, Olopade OI, Olson JE, Olsson H, Peterlongo P, Peto J,

Plaseska-Karanfilska D, Prentice R, Presneau N, Pylkäs K, Rack B, Radice P, Rahman N,

Rennert G, Rennert HS, Rhenius V, Romero A, Romm J, Rudolph A, Saloustros E, Sandler DP,

Sawyer EJ, Schmidt MK, Schmutzler RK, Schneeweiss A, Scott RJ, Scott CG, Seal S, Shah M,

Shrubsole MJ, Smeets A, Southey MC, Spinelli JJ, Stone J, Surowy H, Swerdlow AJ, Tamimi

RM, Tapper W, Taylor JA, Terry MB, Tessier DC, Thomas A, Thöne K, Tollenaar RAEM, Torres

D, Truong T, Untch M, Vachon C, Van Den Berg D, Vincent D, Waisfisz Q, Weinberg CR,

Wendt C, Whittemore AS, Wildiers H, Willett WC, Winqvist R, Wolk A, Xia L, Yang XR, Ziogas

A, Ziv E; kConFab/AOCS Investigators, Dunning AM, Pharoah PDP, Simard J, Milne RL,

Edwards SL, Kraft P, Easton DF, Chenevix-Trench G, Zheng W. Nat Genet. 2018

Jul;50(7):968-978. doi:10.1038/s41588-018-0132-x. Epub 2018 Jun 18. PubMed Central

PMCID: PMC6314198.

PMID: 29915430


8. Genome-wide association study identifies multiple new loci associated with Ewing

sarcoma susceptibility.

Machiela MJ, Grünewald TGP, Surdez D, Reynaud S, Mirabeau O, Karlins E, Rubio RA, Zaidi

S, Grossetete-Lalami S, Ballet S, Lapouble E, Laurence V, Michon J, Pierron G, Kovar H,

Gaspar N, Kontny U, González-Neira A, Picci P, Alonso J, Patino-Garcia A, Corradini N, Bérard

PM, Freedman ND, Rothman N, Dagnall CL, Burdett L, Jones K, Manning M, Wyatt K, Zhou W,

Yeager M, Cox DG, Hoover RN, Khan J, Armstrong GT, Leisenring WM, Bhatia S, Robison LL,

Kulozik AE, Kriebel J, Meitinger T, Metzler M, Hartmann W, Strauch K, Kirchner T, Dirksen U,

Morton LM, Mirabello L, Tucker MA, Tirode F, Chanock SJ, Delattre O. Nat Commun. 2018 Aug

9;9(1):3184. doi: 10.1038/s41467-018-05537-2. PubMed Central PMCID: PMC6085378.

PMID: 30093639


9. Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation

Carriers: A Mendelian Randomization Study.

Qian F, Wang S, Mitchell J, McGuffog L, Barrowdale D, Leslie G, Oosterwijk JC, Chung WK,

Evans DG, Engel C, Kast K, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Aittomäki K, Alducci

E, Andrulis IL, Arun BK, Ausems MGEM, Azzollini J, Barouk-Simonet E, Barwell J, Belotti M,

Benitez J, Berger A, Borg A, Bradbury AR, Brunet J, Buys SS, Caldes T, Caligo MA, Campbell I,

79

Caputo SM, Chiquette J, Claes KBM, Margriet Collée J, Couch FJ, Coupier I, Daly MB,

Davidson R, Diez O, Domchek SM, Donaldson A, Dorfling CM, Eeles R, Feliubadaló L,

Foretova L, Fowler J, Friedman E, Frost D, Ganz PA, Garber J, Garcia-Barberan V, Glendon G,

Godwin AK, Gómez Garcia EB, Gronwald J, Hahnen E, Hamann U, Henderson A, Hendricks

CB, Hopper JL, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Izquierdo Á, Jakubowska A,

Kaczmarek K, Kang E, Karlan BY, Kets CM, Kim SW, Kim Z, Kwong A, Laitman Y, Lasset C,

Hyuk Lee M, Won Lee J, Lee J, Lester J, Lesueur F, Loud JT, Lubinski J, Mebirouk N, Meijers-

Heijboer HEJ, Meindl A, Miller A, Montagna M, Mooij TM, Morrison PJ, Mouret-Fourme E,

Nathanson KL, Neuhausen SL, Nevanlinna H, Niederacher D, Nielsen FC, Nussbaum RL, Offit

K, Olah E, Ong KR, Ottini L, Park SK, Peterlongo P, Pfeiler G, Phelan CM, Poppe B, Pradhan

N, Radice P, Ramus SJ, Rantala J, Robson M, Rodriguez GC, Schmutzler RK, Hutten Selkirk

CG, Shah PD, Simard J, Singer CF, Sokolowska J, Stoppa-Lyonnet D, Sutter C, Yen Tan Y,

Teixeira RM, Teo SH, Terry MB, Thomassen M, Tischkowitz M, Toland AE, Tucker KM, Tung N,

van Asperen CJ, van Engelen K, van Rensburg EJ, Wang-Gohrke S, Wappenschmidt B,

Weitzel JN, Yannoukakos D; GEMO Study Collaborators; HEBON; EMBRACE, Greene MH,

Rookus MA, Easton DF, Chenevix-Trench G, Antoniou AC, Goldgar DE, Olopade OI, Rebbeck

TR, Huo D. J Natl Cancer Inst. 2018 Oct 12. doi: 10.1093/jnci/djy132. [Epub ahead of print].

PMID: 30312457


10. Pharmacogenetic variants and response to neoadjuvant single-agent doxorubicin or

docetaxel: a study in locally advanced breast cancer patients participating in the

NCT00123929 phase 2 randomized trial.

Ruiz-Pinto S, Martin M, Pita G, Caronia D, de la Torre-Montero JC, Moreno LT, Moreno F,

García-Sáenz JÁ, Benítez J, González-Neira A. Pharmacogenet Genomics. 2018

Nov;28(11):245-250. doi:10.1097/FPC.0000000000000354.

PMID: 30334909


80

NODO USC

PUBLICACIONES 2014

1. Common variant at 16p11.2 conferring risk of psychosis.

Steinberg S, de Jong S, Mattheisen M, Costas J, Demontis D, Jamain S, Pietiläinen OP, Lin

K, Papiol S, Huttenlocher J, Sigurdsson E, Vassos E, Giegling I, Breuer R, Fraser G, Walker

N, Melle I, Djurovic S, Agartz I, Tuulio-Henriksson A, Suvisaari J, Lönnqvist J, Paunio T, Olsen

L, Hansen T, Ingason A, Pirinen M, Strengman E; GROUP, Hougaard DM, Orntoft T, Didriksen

M, Hollegaard MV, Nordentoft M, Abramova L, Kaleda V, Arrojo M, Sanjuán J, Arango C, Etain

B, Bellivier F, Méary A, Schürhoff F, Szoke A, Ribolsi M, Magni V, Siracusano A, Sperling

S, Rossner M, Christiansen C, Kiemeney LA, de justificacion requerido.Franke B, van den

Berg LH, Veldink J, Curran S, Bolton P, Poot M, Staal W, Rehnstrom K, Kilpinen H, Freitag

CM, Meyer J, Magnusson P, Saemundsen E, Martsenkovsky I, Bikshaieva I, Martsenkovska I,

Vashchenko O, Raleva M, Paketchieva K, Stefanovski B, Durmishi N, Pejovic Milovancevic

M, Lecic Tosevski D, Silagadze T, Naneishvili N, Mikeladze N, Surguladze S, Vincent

JB, Farmer A, Mitchell PB, Wright A, Schofield PR, Fullerton JM, Montgomery GW, Martin

NG, Rubino IA, van Winkel R, Kenis G, De Hert M, Réthelyi JM, Bitter I, Terenius L, Jönsson

EG, Bakker S, van Os J, Jablensky A, Leboyer M, Bramon E, Powell J, Murray R, Corvin A, Gill

M, Morris D, O'Neill FA, Kendler K, Riley B; Wellcome Trust Case Control Consortium

2,Craddock N, Owen MJ, O'Donovan MC, Thorsteinsdottir U, Kong A, Ehrenreich H, Carracedo

A, Golimbet V, Andreassen OA, Børglum AD, Mors O, Mortensen PB, Werge T, Ophoff RA,

Nöthen MM , Rietschel M, Cichon S, Ruggeri M, Tosato S, Palotie A, St Clair D, Rujescu D,

Collier DA, Stefansson H, Stefansson K. Mol Psychiatry. 2014 Jan;19(1):108-14. doi:

10.1038/mp.2012.157. Epub 2012 Nov 20.

PMID:23164818


2. Comparison of the genetic background of different Colombian populations using the

SNPforID 52plex identification panel.

Ibarra A, Freire-Aradas A, Martínez M, Fondevila M, Burgos G, Camacho M, Ostos H, Suarez Z,

Carracedo A, Santos S, Gusmão L. Int J Legal Med. 2014 Jan;128(1):19-25. doi:

10.1007/s00414-013-0858-z. Epub 2013 May 12.

PMID: 23665814


3. Involvement of LCA5 in Leber Congenital Amaurosis and Retinitis Pigmentosa in the

Spanish Population.

http://www.ncbi.nlm.nih.gov/pubmed?term=Steinberg%20S%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=de%20Jong%20S%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Mattheisen%20M%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Costas%20J%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Demontis%20D%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Jamain%20S%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Pietil%C3%A4inen%20OP%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Lin%20K%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Lin%20K%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Papiol%20S%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Huttenlocher%20J%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Sigurdsson%20E%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Vassos%20E%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Giegling%20I%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Breuer%20R%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Fraser%20G%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Walker%20N%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Walker%20N%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Melle%20I%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Djurovic%20S%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Agartz%20I%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Tuulio-Henriksson%20A%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Suvisaari%20J%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=L%C3%B6nnqvist%20J%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Paunio%20T%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Olsen%20L%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Olsen%20L%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Hansen%20T%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Ingason%20A%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Pirinen%20M%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Strengman%20E%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=GROUP%5BCorporate%20Author%5D

http://www.ncbi.nlm.nih.gov/pubmed?term=Hougaard%20DM%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Orntoft%20T%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Didriksen%20M%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Didriksen%20M%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Hollegaard%20MV%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Nordentoft%20M%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Abramova%20L%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Kaleda%20V%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Arrojo%20M%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

http://www.ncbi.nlm.nih.gov/pubmed?term=Sanju%C3%A1n%20J%5BAuthor%5D&cauthor=true&cauthor_uid=23164818

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Phillips C, Gelabert-Besada M, Fernandez-Formoso L, García-Magariños M, Santos C,

Fondevila M, Ballard D, Syndercombe Court D, Carracedo A, Victoria Lareu M.

Electrophoresis. 2014 May 31. doi: 10.1002/elps.201400095.

PMID:24888494


25. A genome-wide association study on copy-number variation identifies a 11q11 loss

as a candidate susceptibility variant for colorectal cancer.

Fernandez-Rozadilla C, Cazier JB, Tomlinson I, Brea-Fernández A, Lamas MJ, Baiget M,

López-Fernández LA, Clofent J, Bujanda L, Gonzalez D, de Castro L; The EPICOLON

Consortium, Hemminki K, Bessa X, Andreu M, Jover R, Xicola R, Llor X, Moreno V, Castells A,

Castellví-Bel S, Carracedo A, Ruiz-Ponte C. Hum Genet. 2014 May;133(5):525-34. doi:

10.1007/s00439-013-1390-4. Epub 2013 Nov 12.

PMID: 24218287


26. Sequenom MassARRAY approach in the arrhythmogenic right ventricular

cardiomyopathy post-mortem setting: clinical and forensic implications.

Alcalde M, Campuzano O, Allegue C, Torres M, Arbelo E, Partemi S, Iglesias A, Brugada

J, Oliva A, Carracedo A, Brugada R. Int J Legal Med. 2014 May 16. [Epub ahead of print].

PMID: 24832006


27. The Human Early-Life Exposome (HELIX): Project rationale and design.

Vrijheid M, Slama R, Robinson O, Chatzi L, Coen M, van den Hazel P, Thomsen C, Wright J, Athersuch TJ, Avellana N, Basagaña X, Brochot C, Bucchini L,Bustamante M, Carracedo A, Casas M, Estivill X, Fairley L, van Gent D, Gonzalez JR, Granum B, Gražulevičienė R, Gutzkow KB, Julvez J, Keun HC, Kogevinas M, McEachan RR, Meltzer HM, Sabidó E, , Siroux V, Sunyer J, Want EJ, Zeman F, Nieuwenhuijsen MJ. Environ Health Perspect. 2014 Jun;122(6):535-44. doi: 10.1289/ehp.1307204. Epub 2014 Mar 6.



http://www.ncbi.nlm.nih.gov/pubmed?term=Alcalde%20M%5BAuthor%5D&cauthor=true&cauthor_uid=24832006

http://www.ncbi.nlm.nih.gov/pubmed?term=Campuzano%20O%5BAuthor%5D&cauthor=true&cauthor_uid=24832006

http://www.ncbi.nlm.nih.gov/pubmed?term=Allegue%20C%5BAuthor%5D&cauthor=true&cauthor_uid=24832006

http://www.ncbi.nlm.nih.gov/pubmed?term=Torres%20M%5BAuthor%5D&cauthor=true&cauthor_uid=24832006

http://www.ncbi.nlm.nih.gov/pubmed?term=Arbelo%20E%5BAuthor%5D&cauthor=true&cauthor_uid=24832006

http://www.ncbi.nlm.nih.gov/pubmed?term=Partemi%20S%5BAuthor%5D&cauthor=true&cauthor_uid=24832006

http://www.ncbi.nlm.nih.gov/pubmed?term=Iglesias%20A%5BAuthor%5D&cauthor=true&cauthor_uid=24832006

http://www.ncbi.nlm.nih.gov/pubmed?term=Brugada%20J%5BAuthor%5D&cauthor=true&cauthor_uid=24832006

http://www.ncbi.nlm.nih.gov/pubmed?term=Brugada%20J%5BAuthor%5D&cauthor=true&cauthor_uid=24832006

http://www.ncbi.nlm.nih.gov/pubmed?term=Oliva%20A%5BAuthor%5D&cauthor=true&cauthor_uid=24832006


http://www.ncbi.nlm.nih.gov/pubmed?term=Brugada%20R%5BAuthor%5D&cauthor=true&cauthor_uid=24832006


http://www.ncbi.nlm.nih.gov/pubmed?term=Vrijheid%20M%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Slama%20R%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Robinson%20O%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Chatzi%20L%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Coen%20M%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=van%20den%20Hazel%20P%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Thomsen%20C%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Wright%20J%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Wright%20J%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Athersuch%20TJ%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Avellana%20N%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Basaga%C3%B1a%20X%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Brochot%20C%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Bucchini%20L%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Bustamante%20M%5BAuthor%5D&cauthor=true&cauthor_uid=24610234



http://www.ncbi.nlm.nih.gov/pubmed?term=Casas%20M%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Estivill%20X%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Fairley%20L%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=van%20Gent%20D%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Gonzalez%20JR%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Granum%20B%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Gra%C5%BEulevi%C4%8Dien%C4%97%20R%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Gra%C5%BEulevi%C4%8Dien%C4%97%20R%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Gutzkow%20KB%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Julvez%20J%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Keun%20HC%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Kogevinas%20M%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=McEachan%20RR%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Meltzer%20HM%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Sabid%C3%B3%20E%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Sabid%C3%B3%20E%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Siroux%20V%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Sunyer%20J%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Want%20EJ%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Zeman%20F%5BAuthor%5D&cauthor=true&cauthor_uid=24610234

http://www.ncbi.nlm.nih.gov/pubmed?term=Nieuwenhuijsen%20MJ%5BAuthor%5D&cauthor=true&cauthor_uid=24610234



87


28. Next generation sequencing challenges in the analysis of cardiac sudden death due

to arrhythmogenic disorders.

Brion M, Blanco-Verea A, Sobrino B, Santori M, Gil R, Ramos-Luis E, Martinez M, Amigo J,

Carracedo A. Electrophoresis. 2014 Jun 30. doi: 10.1002/elps.201400148. [Epub ahead of

print].

PMID: 24981977


29. Alcohol consumption and survival after a breast cancer diagnosis: A literature-based

meta-analysis and collaborative analysis of data for 29,239 cases.

Ali AM, Schmidt MK, Bolla M, Wang Q, Gago-Dominguez M, Esteban Castelao J, Carracedo A,

Muñoz Garzón V, Bojesen SE, Nordestgaard BG, Flyger H, Chang-Claude J, Vrieling A,

Rudolph A, Seibold P, Nevanlinna H, Muranen TA, Aaltonen K, Blomqvist C, Matsuo K, Ito H,

Iwata H, Horio A, John EM, Sherman M, Lissowska J, Figueroa JD, Garcia-Closas M, Anton-

Culver H, Shah M, Hopper JL, Trichopoulou A, Bueno-de-Mesquita HB, Krogh V, Weiderpass

E, Andersson A, Clavel-Chapelon F, Dossus L, Fagherazzi G, Peeters PH, Olsen A, Wishart

GC, Easton DF, Borgquist S, Overvad K, Barricarte A, González CA, Sanchez MJ, Amiano

Etxezarreta P, Riboli E, Key TJ, Pharoah PD. Cancer Epidemiol Biomarkers Prev. 2014

Jun;23(6):934-45. doi: 10.1158/1055-9965.EPI-13-0901. Epub 2014 Mar 17.

PMID: 24636975


30. High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome

families.

Brea-Fernández A, Cameselle-Teijeiro J, Alenda C, Fernández-Rozadilla C, Cubiella J, Clofent

J, Reñé J, Anido U, Milá M, Balaguer F, Castells A, Castellvi-Bel S, Jover R, Carracedo A, Ruiz-

Ponte C. Clin Genet. 2014 Jun;85(6):583-8. doi: 10.1111/cge.12232. Epub 2013 Jul 28.

PMID: 23837913





88

31. Cuba: exploring the history of admixture and the genetic basis of pigmentation using

autosomal and uniparental markers.

Marcheco-Teruel B, Parra EJ, Fuentes-Smith E, Salas A, Buttenschøn HN, Demontis D, Torres-Español M, Marín-Padrón LC, Gómez-Cabezas EJ, Alvarez-Iglesias V, Mosquera-Miguel A, Martínez-Fuentes A, Carracedo A, Børglum AD, Mors O. PLoS Genet. 2014 Jul 24;10(7):e1004488. doi: 10.1371/journal.pgen.1004488. eCollection 2014 Jul.

PMID:25058410


32. HLA-DRB1*15:01 allele protects from asthma susceptibility.

Pino-Yanes M, Corrales A, Acosta-Herrera M, Pérez-Rodríguez E, Cumplido J, Campo

P, Barreto-Luis A, Sánchez-García F, Felipe T, Sánchez-Machín I, Quintela I, García-Robaina

JC, Villar J, Blanca M, Carracedo A, Carrillo T, Flores C. J Allergy Clin Immunol. 2014 Jul 14.

pii: S0091-6749(14)00770-2. doi: 10.1016/j.jaci.2014.05.031.

PMID:25034406


33. Identifying gene-environment interactions in schizophrenia: contemporary challenges

for integrated, large-scale investigations.

European Network of National Networks studying Gene-Environment Interactions in

Schizophrenia (EU-GEI), van Os J, Rutten BP, Myin-Germeys I, Delespaul P, Viechtbauer W,

van Zelst C, Bruggeman R, Reininghaus U, Morgan C, Murray RM, Di Forti M, McGuire P,

Valmaggia LR, Kempton MJ, Gayer-Anderson C, Hubbard K, Beards S, Stilo SA, Onyejiaka A,

Bourque F, Modinos G, Tognin S, Calem M, O'Donovan MC, Owen MJ, Holmans P, Williams N,

Craddock N, Richards A, Humphreys I, Meyer-Lindenberg A, Leweke FM, Tost H, Akdeniz C,

Rohleder C, Bumb JM, Schwarz E, Alptekin K, Üçok A, Saka MC, Atbaşoğlu EC, Gülöksüz S,

Gumus-Akay G, Cihan B, Karadağ H, Soygür H, Cankurtaran EŞ, Ulusoy S, Akdede B, Binbay

T, Ayer A, Noyan H, Karadayı G, Akturan E, Ulaş H, Arango C, Parellada M, Bernardo M,

Sanjuán J, Bobes J, Arrojo M, Santos JL, Cuadrado P, Rodríguez Solano JJ, Carracedo A,

García Bernardo E, Roldán L, López G, Cabrera B, Cruz S, Díaz Mesa EM, Pouso M, Jiménez

E, Sánchez T, Rapado M, González E, Martínez C, Sánchez E, Olmeda MS, de Haan L,

Velthorst E, van der Gaag M, Selten JP, van Dam D, van der Ven E, van der Meer F,

Messchaert E, Kraan T, Burger N, Leboyer M, Szoke A, Schürhoff F, Llorca PM, Jamain S,

Tortelli A, Frijda F, Vilain J, Galliot AM, Baudin G, Ferchiou A, Richard JR, Bulzacka E,

Charpeaud T, Tronche AM, De Hert M, van Winkel R, Decoster J, Derom C, Thiery E, Stefanis

http://www.ncbi.nlm.nih.gov/pubmed?term=Pino-Yanes%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25034406

http://www.ncbi.nlm.nih.gov/pubmed?term=Corrales%20A%5BAuthor%5D&cauthor=true&cauthor_uid=25034406

http://www.ncbi.nlm.nih.gov/pubmed?term=Acosta-Herrera%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25034406

http://www.ncbi.nlm.nih.gov/pubmed?term=P%C3%A9rez-Rodr%C3%ADguez%20E%5BAuthor%5D&cauthor=true&cauthor_uid=25034406

http://www.ncbi.nlm.nih.gov/pubmed?term=Cumplido%20J%5BAuthor%5D&cauthor=true&cauthor_uid=25034406

http://www.ncbi.nlm.nih.gov/pubmed?term=Campo%20P%5BAuthor%5D&cauthor=true&cauthor_uid=25034406

http://www.ncbi.nlm.nih.gov/pubmed?term=Campo%20P%5BAuthor%5D&cauthor=true&cauthor_uid=25034406

http://www.ncbi.nlm.nih.gov/pubmed?term=Barreto-Luis%20A%5BAuthor%5D&cauthor=true&cauthor_uid=25034406

http://www.ncbi.nlm.nih.gov/pubmed?term=S%C3%A1nchez-Garc%C3%ADa%20F%5BAuthor%5D&cauthor=true&cauthor_uid=25034406

http://www.ncbi.nlm.nih.gov/pubmed?term=Felipe%20T%5BAuthor%5D&cauthor=true&cauthor_uid=25034406

http://www.ncbi.nlm.nih.gov/pubmed?term=S%C3%A1nchez-Mach%C3%ADn%20I%5BAuthor%5D&cauthor=true&cauthor_uid=25034406

http://www.ncbi.nlm.nih.gov/pubmed?term=Quintela%20I%5BAuthor%5D&cauthor=true&cauthor_uid=25034406

http://www.ncbi.nlm.nih.gov/pubmed?term=Garc%C3%ADa-Robaina%20JC%5BAuthor%5D&cauthor=true&cauthor_uid=25034406

http://www.ncbi.nlm.nih.gov/pubmed?term=Garc%C3%ADa-Robaina%20JC%5BAuthor%5D&cauthor=true&cauthor_uid=25034406

http://www.ncbi.nlm.nih.gov/pubmed?term=Villar%20J%5BAuthor%5D&cauthor=true&cauthor_uid=25034406

http://www.ncbi.nlm.nih.gov/pubmed?term=Blanca%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25034406


http://www.ncbi.nlm.nih.gov/pubmed?term=Carrillo%20T%5BAuthor%5D&cauthor=true&cauthor_uid=25034406

http://www.ncbi.nlm.nih.gov/pubmed?term=Flores%20C%5BAuthor%5D&cauthor=true&cauthor_uid=25034406


89

NC, Sachs G, Aschauer H, Lasser I, Winklbaur B, Schlögelhofer M, Riecher-Rössler A,

Borgwardt S, Walter A, Harrisberger F, Smieskova R, Rapp C, Ittig S, Soguel-dit-Piquard F,

Studerus E, Klosterkötter J, Ruhrmann S, Paruch J, Julkowski D, Hilboll D, Sham PC, Cherny

SS, Chen EY, Campbell DD, Li M, Romeo-Casabona CM, Emaldi Cirión A, Urruela Mora A,

Jones P, Kirkbride J, Cannon M, Rujescu D, Tarricone I, Berardi D, Bonora E, Seri M, Marcacci

T, Chiri L, Chierzi F, Storbini V, Braca M, Minenna MG, Donegani I, Fioritti A, La Barbera D, La

Cascia CE, Mulè A, Sideli L, Sartorio R, Ferraro L, Tripoli G, Seminerio F, Marinaro AM,

McGorry P, Nelson B, Amminger GP, Pantelis C, Menezes PR, Del-Ben CM, Gallo Tenan SH,

Shuhama R, Ruggeri M, Tosato S, Lasalvia A, Bonetto C, Ira E, Nordentoft M, Krebs MO,

Barrantes-Vidal N, Cristóbal P, Kwapil TR, Brietzke E, Bressan RA, Gadelha A, Maric NP,

Andric S, Mihaljevic M, Mirjanic T. Schizophr Bull. 2014 Jul;40(4):729-36. doi:

10.1093/schbul/sbu069. Epub 2014 May 24.

PMID: 24860087


34. Building a forensic ancestry panel from the ground up: The EUROFORGEN Global

AIM-SNP set.

Phillips C, Parson W, Lundsberg B, Santos C, Freire-Aradas A, Torres M, Eduardoff M, Børsting C, Johansen P, Fondevila M, Morling N, Schneider P; EUROFORGEN-NoE Consortium, Carracedo A, Lareu MV. Forensic Sci Int Genet. 2014 Jul;11:13-25. doi: 10.1016/j.fsigen.2014.02.012. Epub 2014 Feb 25. PMID: 24631693


35. A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC)

results in Milroy-like disease.

Balboa-Beltran E, Fernández-Seara MJ, Pérez-Muñuzuri A, Lago R, García-Magán C, Couce

ML, Sobrino B, Amigo J, Carracedo A, Barros F. J Med Genet. 2014 Jul;51(7):475-8. doi:

10.1136/jmedgenet-2013-102020. Epub 2014 Apr 17.

PMID: 24744435


36. Whole-exome sequencing identifies rare pathogenic variants in new predisposition

genes for familial colorectal cancer.



90

Esteban-Jurado C, Vila-Casadesús M, Garre P, Lozano JJ, Pristoupilova A, Beltran S, Muñoz J,

Ocaña T, Balaguer F, López-Cerón M, Cuatrecasas M, Franch-Expósito S, Piqué JM, Castells

A, Carracedo A, Ruiz-Ponte C, Abulí A, Bessa X, Andreu M, Bujanda L, Caldés T, Castellví-Bel

S. Genet Med. 2014 Jul 24. doi: 10.1038/gim.2014.89.

PMID:25058500


37. Predicting proliferative vitreoretinopathy: temporal and external validation of models

based on genetic and clinical variables.

Rojas J, Fernandez I, Pastor JC, MacLaren RE, Ramkissoon Y, Harsum S, Charteris DG, Van

Meurs JC, Amarakoon S, Garcia-Arumi J, Ruiz-Moreno JM, Rocha-Sousa A, Brion M,

Carracedo A; for the Genetics on PVR Study Group (web file). Br J Ophthalmol. 2014 Jul 29.

pii: bjophthalmol-2014-305263. doi: 10.1136/bjophthalmol-2014-305263.

PMID:25075124


38. A three-stage genome-wide association study identifies a susceptibility locus for late

radiotherapy toxicity at 2q24.1.

Fachal L, Gómez-Caamaño A, Barnett GC, Peleteiro P, Carballo AM, Calvo-Crespo P, Kerns

SL, Sánchez-García M, Lobato-Busto R, Dorling L, Elliott RM, Dearnaley DP, Sydes MR, Hall E,

Burnet NG, Carracedo Á, Rosenstein BS, West CM, Dunning AM, Vega A. Nat Genet. 2014

Aug;46(8):891-4. doi: 10.1038/ng.3020. Epub 2014 Jun 29. 24974847.

PMID:24974847


39. RAD51C germline mutations found in Spanish site-specific breast cancer and breast-

ovarian cancer families.

Blanco A, Gutiérrez-Enríquez S, Santamariña M, Montalban G, Bonache S, Balmaña J,

Carracedo A, Diez O, Vega A. Breast Cancer Res Treat. 2014 Aug;147(1):133-43. doi:

10.1007/s10549-014-3078-4. Epub 2014 Aug 3.

PMID: 25086635






91

40. The molecular characterisation of a depurinated trial dna sample can be a model to

understand the reliability of the results in forensic genetics.

Fattorini P, Previdere C, Sorçaburu-Cigliero S, Marrubini G, Alù M, Barbaro A, Carnevali E,

Carracedo A, Casarino L, Consoloni L, Corato S, Domenici R, Fabbri M, Giardina E, Grignani P,

Baldassarra SL, Moratti M, Pelotti S, Piccinini A, Pitacco P, Plizza L, Resta N, Ricci U, Robino

C, Salvaderi L, Scarnicci F, Schneider PM, Seidita G, Trizzino L, Turchi C, Turrina S, Vatta P,

Vecchiotti C, Verzeletti A, Stefano FD. Electrophoresis. 2014 Aug 29. doi:

10.1002/elps.201400141.

PMID:25176610


41. A SNaPshot of next generation sequencing for forensic SNP analysis.

Daniel R, Santos C, Phillips C, Fondevila M, van Oorschot RA, Carracedo A, Lareu MV,

McNevin D. Forensic Sci Int Genet. 2014 Aug 30;14C:50-60. doi:

10.1016/j.fsigen.2014.08.013.

PMID: 25282603


42. Replication of previous genome-wide association studies of psychiatric diseases in a

large schizophrenia case-control sample from Spain.

Ivorra JL, Rivero O, Costas J, Iniesta R, Arrojo M, Ramos-Ríos R, Carracedo A, Palomo T,

Rodriguez-Jimenez R, Cervilla J, Gutiérrez B, Molina E, Arango C, Alvarez M, Pascual JC,

Pérez V, Saiz PA, García-Portilla MP, Bobes J, González-Pinto A, Zorrilla I, Haro JM, Bernardo

M, Baca-García E, González JC, Hoenicka J, Moltó MD, Sanjuán J. Schizophr Res. 2014

Oct;159(1):107-13. doi: 10.1016/j.schres.2014.07.004. Epub 2014 Aug 12.

PMID: 25124521


43. Exploring iris colour prediction and ancestry inference in admixed populations of

South America.




92

Freire-Aradas A, Ruiz Y, Phillips C, Maroñas O, Söchtig J, Tato AG, Dios JÁ, de Cal MC,

Silbiger VN, Luchessi AD, Luchessi AD, Chiurillo MA, Carracedo A, Lareu MV. Forensic Sci Int

Genet. 2014 Nov;13:3-9. doi: 10.1016/j.fsigen.2014.06.007.

PMID: 25051225


44. Development of a forensic skin colour predictive test.

Maroñas O, Phillips C, Söchtig J, Gomez-Tato A, Cruz R, Alvarez-Dios J, de Cal MC, Ruiz Y,

Fondevila M, Carracedo A, Lareu MV. Forensic Sci Int Genet. 2014 Nov;13:34-44. doi:

10.1016/j.fsigen.2014.06.017. Epub 2014 Jul 10.

PMID: 25082135


45. Whole exome sequencing for the identification of a new mutation in TGFB2 involved

in a familial case of non-syndromic aortic disease.

Gago-Díaz M, Blanco-Verea A, Teixidó-Turà G, Valenzuela I, Del Campo M, Borregan M,

Sobrino B, Amigo J, García-Dorado D, Evangelista A, Carracedo A, Brion M. Clin Chim

Acta. 2014 Nov 1;437:88-92. doi: 10.1016/j.cca.2014.07.016. Epub 2014 Jul 19.

PMID: 25046559


PUBLICACIONES 2015

1. A colorectal cancer susceptibility new variant at 4q26 in the Spanish population

identified by genome-wide association analysis.

Real LM, Ruiz A, Gayán J, González-Pérez A, Sáez ME, Ramírez-Lorca R, Morón FJ, Velasco

J, Marginet-Flinch R, Musulén E, Carrasco JM, Moreno-Rey C, Vázquez E, Chaves-Conde M,

Moreno-Nogueira JA, Hidalgo-Pascual M, Ferrero-Herrero E, Castellví-Bel S, Castells A,

Fernandez-Rozadilla C, Ruiz-Ponte C, Carracedo A, González B, Alonso S, Perucho M. PLoS

One. 2014 Jun 30;9(6):e101178. doi: 10.1371/journal.pone.0101178. eCollection 2014.

PMID: 24978480







93

2. A unified nomenclature and amino acid numbering for human PTEN.

Pulido R, Baker SJ, Barata JT, Carracedo A, Cid VJ, Chin-Sang ID, Davé V, den Hertog J,

Devreotes P, Eickholt BJ, Eng C, Furnari FB, Georgescu MM, Gericke A, Hopkins B, Jiang X,

Lee SR, Lösche M, Malaney P, Matias-Guiu X, Molina M, Pandolfi PP, Parsons R, Pinton P,

Rivas C, Rocha RM, Rodríguez MS, Ross AH, Serrano M, Stambolic V, Stiles B, Suzuki A, Tan

SS, Tonks NK, Trotman LC, Wolff N, Woscholski R, Wu H, Leslie NR. Sci Signal. 2014 Jul

1;7(332):pe15. doi: 10.1126/scisignal.2005560.

PMID:24985344


3. The multiethnic ancestry of Bolivians as revealed by the analysis of Y-chromosome

markers.

Cárdenas JM, Heinz T, Pardo-Seco J, Álvarez-Iglesias V, Taboada-Echalar P, Sánchez-Diz P,

Carracedo Á, Salas A. Forensic Sci Int Genet. 2015 Jan;14:210-8. doi:

10.1016/j.fsigen.2014.10.023. Epub 2014 Nov 1.

PMID: 25450796


4. Epidemiological trends of histopathologically WHO classified CNS tumors in

developing countries: systematic review.

Khan I, Bangash M, Baeesa S, Jamal A, Carracedo A, Alghamdi F, Qashqari H, Abuzenadah A,

AlQahtani M, Damanhouri G, Chaudhary A, Hussein D. Asian Pac J Cancer Prev. 2015

Jan;16(1):205-16.

PMID: 25640353


5. Fine mapping of the HNF1B multicancer locus identifies candidate variants that

mediate endometrial cancer risk.

Painter JN, O'Mara TA, Batra J, Cheng T, Lose FA, Dennis J, Michailidou K, Tyrer JP, Ahmed

S, Ferguson K, Healey CS, Kaufmann S, Hillman KM, Walpole C, Moya L, Pollock P, Jones A,

Howarth K, Martin L, Gorman M, Hodgson S; National Study of Endometrial Cancer Genetics

Group (NSECG); CHIBCHA Consortium, De Polanco MM, Sans M, Carracedo A, Castellvi-Bel

S, Rojas-Martinez A, Santos E, Teixeira MR, Carvajal-Carmona L, Shu XO, Long J, Zheng W,

Xiang YB; The Australian National Endometrial Cancer Study Group (ANECS), Montgomery

GW, Webb PM, Scott RJ, McEvoy M, Attia J, Holliday E, Martin NG, Nyholt DR, Henders AK,

94

Fasching PA, Hein A, Beckmann MW, Renner SP, Dörk T, Hillemanns P, Dürst M, Runnebaum

I, Lambrechts D, Coenegrachts L, Schrauwen S, Amant F, Winterhoff B, Dowdy SC, Goode EL,

Teoman A, Salvesen HB, Trovik J, Njolstad TS, Werner HM, Ashton K, Proietto T, Otton G,

Tzortzatos G, Mints M, Tham E; RENDOCAS, Hall P, Czene K, Liu J, Li J, Hopper JL, Southey

MC; Australian Ovarian Cancer Study (AOCS), Ekici AB, Ruebner M, Johnson N, Peto J,

Burwinkel B, Marme F, Brenner H, Dieffenbach AK, Meindl A, Brauch H; The GENICA Network,

Lindblom A, Depreeuw J, Moisse M, Chang-Claude J, Rudolph A, Couch FJ, Olson JE, Giles

GG, Bruinsma F, Cunningham JM, Fridley BL, Børresen-Dale AL, Kristensen VN, Cox A,

Swerdlow AJ, Orr N, Bolla MK, Wang Q, Weber RP, Chen Z, Shah M, French JD, Pharoah PD,

Dunning AM, Tomlinson I, Easton DF, Edwards SL, Thompson DJ, Spurdle AB (Ponte CR).

Hum Mol Genet. 2015 Mar 1;24(5):1478-92. doi: 10.1093/hmg/ddu552. Epub 2014 Nov 6.

PMID:25378557 FACTOR DE IMPACTO: 6.393 CUARTIL: D1

6. Fine mapping of the myosin light chain kinase gene (MYLK) replicates the association

with asthma in populations of Spanish descent.

Acosta-Herrera M, Pino-Yanes M, Ma SF, Barreto-Luis A, Corrales A, Cumplido J, Pérez-

Rodríguez E, Campo P, Eng C, García-Robaina JC, Quintela I, Villar J, Blanca M, Carracedo Á,

Carrillo T, Garcia JG, Torgerson DG, Burchard EG, Flores C. J Allergy Clin Immunol. 2015

May 26. pii: S0091-6749(15)00587-4. doi: 10.1016/j.jaci.2015.04.025.

PMID: 26025125


7. Evaluation of DNA variants associated with androgenetic alopecia and their potential

to predict male pattern baldness.

Marcińska M, Pośpiech E, Abidi S, Andersen JD, van den Berge M, Carracedo Á, Eduardoff M,

Marczakiewicz-Lustig A, Morling N, Sijen T, Skowron M, Söchtig J, Syndercombe-Court D,

Weiler N; EUROFORGEN-NoE Consortium, Schneider PM, Ballard D, Børsting C, Parson W,

Phillips C, Branicki W. PLoS One. 2015 May 22;10(5): e0127852. doi:

10.1371/journal.pone.0127852. ECollection 2015.

PMID: 26001114




95

8. Association between SNPs of Metalloproteinases and Prostaglandin F2α Receptor

Genes and Latanoprost Response in Open-Angle Glaucoma.

Ussa F, Fernandez I, Brion M, Carracedo A, Blazquez F, Garcia MT, Sanchez-Jara A, De Juan-

Marcos L, Jimenez-Carmona S, Juberias JR, Martinez-de-la-Casa JM, Pastor JC.

Ophthalmology. 2015 May;122(5):1040-1048.e4. doi: 10.1016/j.ophtha.2014.12.038. Epub

2015 Feb 19.

PMID:25704319


9. Prevalence of somatic mutl homolog 1 promoter hypermethylation in Lynch syndrome

colorectal cancer.

Moreira L, Muñoz J, Cuatrecasas M, Quintanilla I, Leoz ML, Carballal S, Ocaña T, López-Cerón

M, Pellise M, Castellví-Bel S, Jover R, Andreu M, Carracedo A, Xicola RM, Llor X, Boland CR,

Goel A, Castells A, Balaguer F. Cancer. 2015 May 1;121(9):1395-404. doi:

10.1002/cncr.29190. Epub 2014 Dec 29.

PMID: 25557234


10. Human genomics. Effect of predicted protein-truncating genetic variants on the

human transcriptome.

Rivas MA, Pirinen M, Conrad DF, Lek M, Tsang EK, Karczewski KJ, Maller JB, Kukurba KR,

DeLuca DS, Fromer M, Ferreira PG, Smith KS, Zhang R, Zhao F, Banks E, Poplin R, Ruderfer

DM, Purcell SM, Tukiainen T, Minikel EV, Stenson PD, Cooper DN, Huang KH, Sullivan TJ,

Nedzel J; GTEx Consortium; Geuvadis Consortium, Bustamante CD, Li JB, Daly MJ, Guigo R,

Donnelly P, Ardlie K, Sammeth M, Dermitzakis ET, McCarthy MI, Montgomery SB, Lappalainen

T, MacArthur DG (Carracedo A). Science. 2015 May 8;348(6235):666-9. doi:

10.1126/science.1261877.

PMID:25954003


11. An efficient screening method for simultaneous detection of recurrent copy number

variants associated with psychiatric disorders.

Rodriguez-Lopez J, Carrera N, Arrojo M, Amigo J, Sobrino B, Páramo M, Paz E, Agra S,

Ramos-Ríos R, Brenlla J, Carracedo Á, Costas J. Clin Chim Acta. 2015 May 20; 445:34-40.

doi: 10.1016/j.cca.2015.03.013. Epub 2015 Mar 20.7

PMID:25797897

96


12. affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for

SNP, CNV, inversion and mosaicism calling.

Hernandez-Ferrer C, Quintela Garcia I, Danielski K, Carracedo Á, Pérez-Jurado LA, González

JR. BMC Bioinformatics. 2015 May 20; 16:167. doi: 10.1186/s12859-015-0608-y.

PMID:25991004


13. A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5

deletion in a male patient with global developmental delay, disruptive and obsessive

behaviors and minor dysmorphic features.

Quintela I, Barros F, Lago-Leston R, Castro-Gago M, Carracedo A, Eiris J. Am J Med Genet A.

2015 Jun;167(6):1315-22. doi: 10.1002/ajmg.a.36909. Epub 2015 Apr 2.

PMID:25847113


14. Clinical characterization of a male patient with the recently described 8q21.11

microdeletion syndrome.

Quintela I, Barros F, Castro-Gago M, Carracedo A, Eiris J. Am J Med Genet A. 2015

Jun;167(6):1369-73. doi: 10.1002/ajmg.a.37038. Epub 2015 Apr 21.

PMID:25898976


15. A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral

language, and dysmorphic features with concomitant presence of a maternally inherited

Xp22.31 copy number gain.

Quintela I, Fernandez-Prieto M, Gomez-Guerrero L, Resches M, Eiris J, Barros F, Carracedo A.

Clin Case Rep. 2015 Jun;3(6):415-23. doi: 10.1002/ccr3.255. Epub 2015 Apr 9.

PMID: 26185640

FACTOR DE IMPACTO: 0 CUARTIL: -




97

16. High frequency and founder effect of the CYP3A4*20 loss-of-function allele in the

Spanish population classifies CYP3A4 as a polymorphic enzyme.

Apellániz-Ruiz M, Inglada-Pérez L, Naranjo ME, Sánchez L, Mancikova V, Currás-Freixes M, de

Cubas AA, Comino-Méndez I, Triki S, Rebai A, Rasool M, Moya G, Grazina M, Opocher G,

Cascón A, Taboada-Echalar P, Ingelman-Sundberg M, Carracedo A, Robledo M, Llerena A,

Rodríguez-Antona C. Pharmacogenomics J. 2015 Jun;15(3):288-92. doi: 10.1038/tpj.2014.67.

Epub 2014 Nov 4.

PMID:25348618


17. Mutations in XPR1 cause primary familial brain calcification associated with altered

phosphate export.

Legati A, Giovannini D, Nicolas G, López-Sánchez U, Quintáns B, Oliveira JR, Sears RL,

Ramos EM, Spiteri E, Sobrido MJ, Carracedo Á, Castro-Fernández C, Cubizolle S, Fogel BL,

Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H,

Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK,

Vanakker O, Wessels MW, Wetchaphanphesat S, Yang M, Boller F, Campion D, Hannequin D,

Sitbon M, Geschwind DH, Battini JL, Coppola G. Nat Genet. 2015 Jun;47(6):579-81. doi:

10.1038/ng.3289. Epub 2015 May 4.

PMID: 25938945


18. Paternal lineages in Libya inferred from Y-chromosome haplogroups.

Triki-Fendri S, Sánchez-Diz P, Rey-González D, Ayadi I, Carracedo Á, Rebai A. Am J Phys

Anthropol. 2015 Jun;157(2):242-51. doi: 10.1002/ajpa.22705. Epub 2015 Feb 11.

PMID: 25677690


19. Inferior frontal gyrus white matter abnormalities in obsessive-compulsive disorder.

Gonçalves ÓF, Sousa S, Maia L, Carvalho S, Leite J, Ganho A, Fernandes-Gonçalves A, Frank

B, Pocinho F, Carracedo A, Sampaio A. Neuroreport. 2015 Jun 17;26(9):495-500. doi:

10.1097/WNR.0000000000000377.

PMID: 25945482

98


20. Completion of a worldwide reference panel of samples for an ancestry informative

Indel assay.

Santos C, Phillips C, Oldoni F, Amigo J, Fondevila M, Pereira R, Carracedo Á, Lareu MV.

Forensic Sci Int Genet. 2015 Jul; 17:75-80. doi: 10.1016/j.fsigen.2015.03.011. Epub 2015 Mar

25.

PMID: 25840342


21. Deletion of the RPS6KA3 gene in a female with a classical phenotype of Coffin-Lowry

syndrome including stimulus-induced drop attacks.

Quintela I, Barros-Angueira F, Perez-Gay L, Castro-Gago M, Carracedo A, Eiris-Punal J. Rev

Neurol. 2015 Jul 16;61(2):94-6. Spanish.

PMID: 26156445


22. Resequencing and association analysis of coding regions at twenty candidate genes

suggest a role for rare risk variation at AKAP9 and protective variation at NRXN1 in

schizophrenia susceptibility.

Suárez-Rama JJ, Arrojo M, Sobrino B, Amigo J, Brenlla J, Agra S, Paz E, Brión M, Carracedo

Á, Páramo M, Costas J. J Psychiatr Res. 2015 Jul-Aug;66-67C:38-44. doi:

10.1016/j.jpsychires.2015.04.013. Epub 2015 Apr 22.

PMID: 25943950


23. Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene

as possible causes of intellectual disability and behavior disorder.

Quintela I, Barros F, Fernandez-Prieto M, Martinez-Regueiro R, Castro-Gago M, Carracedo A,

Gomez-Lado C, Eiris J. Am J Med Genet A. 2015 Aug 18. doi: 10.1002/ajmg.a.37291.

PMID: 26284580




99

24. Female patient with autistic disorder, intellectual disability, and co-morbid anxiety

disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31

microdeletion.

Quintela I, Gomez-Guerrero L, Fernandez-Prieto M, Resches M, Barros F, Carracedo A. Am J

Med Genet A. 2015 Aug 29. doi: 10.1002/ajmg.a.37292.

PMID: 26332054


25. No Major Host Genetic Risk Factor Contributed to A(H1N1)2009 Influenza Severity.

Garcia-Etxebarria K, Bracho MA, Galán JC, Pumarola T, Castilla J, Ortiz de Lejarazu R,

Rodríguez- Dominguez M, Quintela I, Bonet N, Garcia-Garcerà M, Domínguez A, González-

Candelas F, Calafell F; CIBERESP Cases and Controls in Pandemic Influenza Working Group.

PLoS One. 2015 Sep 17;10(9): e0135983. doi: 10.1371/journal.pone.0135983. eCollection

2015. Erratum in: PLoS One.

2015;10(10):e0141661. PubMed PMID: 26379185; PubMed Central PMCID: PMC4574704.

PMID: 26379185


26. Molecular characterisation and phenotypic description of two patients with reciprocal

chromosomal aberrations in the region of the 3q29 microdeletion/microduplication

syndromes.

Quintela I, Barros-Angueira F, Perez-Gay L, Dacruz D, Castro-Gago M, Carracedo A, Eiris-

Punal J. Rev Neurol. 2015 Sep 16;61(6):255-60. Spanish.

PMID: 26350776


27. Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and

reveals genetic heterogeneity among populations.

Mancikova V, Cruz R, Inglada-Pérez L, Fernández-Rozadilla C, Landa I, Cameselle-Teijeiro J,

Celeiro C, Pastor S, Velázquez A, Marcos R, Andía V, Álvarez-Escolá C, Meoro A, Schiavi F,

Opocher G, Quintela I, Ansede-Bermejo J, Ruiz-Ponte C, Santisteban P, Robledo M, Carracedo

A. Int J Cancer. 2015 Oct 15;137(8):1870-8. doi: 10.1002/ijc.29557. Epub 2015 Apr 22.

PMID: 25855579








100


PUBLICACIONES 2016

1. Broad-based molecular autopsy: a potential tool to investigate the involvement of

subtle cardiac conditions in sudden unexpected death in infancy and early childhood.

Santori M, Blanco-Verea A, Gil R, Cortis J, Becker K, Schneider PM, Carracedo A, Brion M.

Arch Dis Child 2015 Oct;100(10):952-6. doi: 10.1136/archdischild-2015-308200. Epub 2015

Aug 13.

PMID: 26272908


CUARTIL: Q1

2. Tetra-allelic SNPs: Informative forensic markers compiled from public whole-genome

sequence data.

Phillips C, Amigo J, Carracedo Á, Lareu MV. BMC Genomics. 2015 Nov; 19:100-6. doi:

10.1016/j.fsigen.2015.06.011. Epub 2015 Jul 13.

PMID: 26209763


3. Recurrent coding sequence variation explains only a small fraction of the genetic

architecture of colorectal cancer.

Timofeeva MN, Kinnersley B, Farrington SM, Whiffin N, Palles C, Svinti V, Lloyd A, Gorman M,

Ooi LY, Hosking F, Barclay E, Zgaga L, Dobbins S, Martin L, Theodoratou E, Broderick P,

Tenesa A, Smillie C, Grimes G, Hayward C, Campbell A, Porteous D, Deary IJ, Harris SE,

Northwood EL, Barrett JH, Smith G, Wolf R, Forman D, Morreau H, Ruano D, Tops C, Wijnen J,

Schrumpf M, Boot A, Vasen HF, Hes FJ, van Wezel T, Franke A, Lieb W, Schafmayer C,

Hampe J, Buch S, Propping P, Hemminki K, Försti A, Westers H, Hofstra R, Pinheiro M, Pinto

C, Teixeira M, Ruiz-Ponte C, Fernández-Rozadilla C, Carracedo A, Castells A, Castellví-Bel S,

Campbell H, Bishop DT, Tomlinson IP, Dunlop MG, Houlston RS. Sci Rep. 2015 Nov 10;

5:16286. doi: 10.1038/srep16286.

PMID: 26553438


https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639776/

101

4. Evaluation of the predictive capacity of DNA variants associated with straight hair in

Europeans.

Pośpiech E, Karłowska-Pik J, Marcińska M, Abidi S, Andersen JD, van den Berge M, Carracedo

Á, Eduardoff M, Freire-Aradas A, Morling N, Sijen T, Skowron M, Söchtig J, Syndercombe-Court

D, Weiler N, Schneider PM, Ballard D, Børsting C, Parson W, Phillips C, Branicki W. Forensic

Sci Int Genet. 2015 Nov;19:280-8. doi: 10.1016/j.fsigen.2015.09.004. Epub 2015 Sep 14.

PMID: 26414620


5. Forensic ancestry analysis with two capillary electrophoresis ancestry informative

marker (AIM) panels: Results of a collaborative EDNAP exercise.

Santos C, Fondevila M, Ballard D, Banemann R, Bento AM, Børsting C, Branicki W, Brisighelli

F, Burrington M, Capal T, Chaitanya L, Daniel R, Decroyer V, England R, Gettings KB, Gross

TE, Haas C, Harteveld J, Hoff-Olsen P, Hoffmann A, Kayser M, Kohler P, Linacre A, Mayr-

Eduardoff M, McGovern C, Morling N, O'Donnell G, Parson W, Pascali VL, Porto MJ, Roseth A,

Schneider PM, Sijen T, Stenzl V, Court DS, Templeton JE, Turanska M, Vallone PM, Oorschot

RA, Zatkalikova L, Carracedo Á, Phillips C.

Forensic Sci Int Genet. 2015 Nov;19:56-67. doi: 10.1016/j.fsigen.2015.06.004. Epub 2015 Jun

15.

PMID: 26122263


6. Inference of biogeographical ancestry across central regions of Eurasia.

Bulbul O, Filoglu G, Zorlu T, Altuncul H, Freire-Aradas A, Söchtig J, Ruiz Y, Klintschar M, Triki-

Fendri S, Rebai A, Phillips C, Lareu MV, Carracedo Á, Schneider PM.

Int J Legal Med 2016 Jan;130(1):73-9. doi: 10.1007/s00414-015-1246-7. Epub 2015 Aug 20.

PMID: 26289413


7. The relationship between surname frequency and Y chromosome variation in Spain.

Martinez-Cadenas C, Blanco-Verea A, Hernando B, Busby GB, Brion M, Carracedo A, Salas A,

Capelli C. Eur J Hum Genet 2016 Jan;24(1):120-8. doi: 10.1038/ejhg.2015.75. Epub 2015 Apr

22.




102

PMID: 25898922


8. Comprehensive molecular testing in patients with high functioning autism spectrum

disorder.

Alvarez-Mora MI, Calvo Escalona R, Puig Navarro O, Madrigal I, Quintela I, Amigo J, Martinez-

Elurbe D, Linder-Lucht M, Aznar Lain G, Carracedo A, Mila M, Rodriguez-Revenga L. Mutat

Res. 2016 Feb-Mar;784-785:46-52. doi: 10.1016/j.mrfmmm.2015.12.006. Epub 2016 Jan 6.

PMID: 26845707


9. Genome-wide association study in Spanish identifies ADAM metallopeptidase with

thrombospondin type 1 motif, 9 (ADAMTS9), as a novel asthma susceptibility gene.

Barreto-Luis A, Pino-Yanes M, Corrales A, Campo P, Callero A, Acosta-Herrera M, Cumplido J,

Ma SF, Martinez-Tadeo J, Villar J, Garcia JG, Carrillo T, Carracedo Á, Blanca M, Flores C. J

Allergy Clin Immunol 2016 Mar;137(3):964-6. doi: 10.1016/j.jaci.2015.09.051. Epub 2015 Nov

24.

PMID:26620591


10. Exon-focused genome-wide association study of obsessive-compulsive disorder and

shared polygenic risk with schizophrenia.

Costas J, Carrera N, Alonso P, Gurriarán X, Segalàs C, Real E, López-Solà C, Mas S, Gassó

P, Domènech L, Morell M, Quintela I, Lázaro L, Menchón JM, Estivill X, Carracedo Á.

Transl Psychiatry. 2016 Mar 29;6:e768. doi: 10.1038/tp.2016.34.

PMID: 27023174


11. Mitochondrial and nuclear DNA matching shapes metabolism and healthy ageing.

Latorre-Pellicer A, Moreno-Loshuertos R, Lechuga-Vieco AV, Sánchez-Cabo F, Torroja C, Acín-

Pérez R, Calvo E, Aix E, González-Guerra A, Logan A, Bernad-Miana ML, Romanos E, Cruz R,



https://www.ncbi.nlm.nih.gov/pubmed/?term=Real%20E%5BAuthor%5D&cauthor=true&cauthor_uid=27023174

https://www.ncbi.nlm.nih.gov/pubmed/?term=L%C3%B3pez-Sol%C3%A0%20C%5BAuthor%5D&cauthor=true&cauthor_uid=27023174

https://www.ncbi.nlm.nih.gov/pubmed/?term=Mas%20S%5BAuthor%5D&cauthor=true&cauthor_uid=27023174

https://www.ncbi.nlm.nih.gov/pubmed/?term=Gass%C3%B3%20P%5BAuthor%5D&cauthor=true&cauthor_uid=27023174


https://www.ncbi.nlm.nih.gov/pubmed/?term=Dom%C3%A8nech%20L%5BAuthor%5D&cauthor=true&cauthor_uid=27023174

https://www.ncbi.nlm.nih.gov/pubmed/?term=Morell%20M%5BAuthor%5D&cauthor=true&cauthor_uid=27023174

https://www.ncbi.nlm.nih.gov/pubmed/?term=Quintela%20I%5BAuthor%5D&cauthor=true&cauthor_uid=27023174

https://www.ncbi.nlm.nih.gov/pubmed/?term=L%C3%A1zaro%20L%5BAuthor%5D&cauthor=true&cauthor_uid=27023174

https://www.ncbi.nlm.nih.gov/pubmed/?term=Mench%C3%B3n%20JM%5BAuthor%5D&cauthor=true&cauthor_uid=27023174

https://www.ncbi.nlm.nih.gov/pubmed/?term=Estivill%20X%5BAuthor%5D&cauthor=true&cauthor_uid=27023174

https://www.ncbi.nlm.nih.gov/pubmed/?term=Carracedo%20%C3%81%5BAuthor%5D&cauthor=true&cauthor_uid=27023174

https://www.ncbi.nlm.nih.gov/pubmed/?term=Exon-focused+genome-wide+association+study+of+obsessive-compulsive+disorder+and+shared+polygenic+risk+with+schizophrenia.


103

Cogliati S, Sobrino B, Carracedo Á, Pérez-Martos A, Fernández-Silva P, Ruíz-Cabello J,

Murphy MP, Flores I, Vázquez J, Enríquez JA. Nature. 2016 Jul 28;535(7613):561-5.

PMID: 27383793


12. Meta-analysis of Genome Wide Association Studies Identifies Genetic Markers of Late

Toxicity Following Radiotherapy for Prostate Cancer.

Kerns SL, Dorling L, Fachal L, Bentzen S, Pharoah PD, Barnes DR, Gómez-Caamaño A,

Carballo AM, Dearnaley DP, Peleteiro P, Gulliford SL, Hall E, Michailidou K, Carracedo Á, Sia

M, Stock R, Stone NN, Sydes MR, Tyrer JP, Ahmed S, Parliament M, Ostrer H, Rosenstein BS,

Vega A, Burnet NG, Dunning AM, Barnett GC, West CM; Radiogenomics Consortium..

EBioMedicine. 2016 Aug; 10:150-63. doi: 10.1016/j.ebiom.2016.07.022.

PMID: 27515689


13. PRKG1 and genetic diagnosis of early-onset thoracic aortic disease.

Gago-Díaz M, Blanco-Verea A, Teixidó G, Huguet F, Gut M, Laurie S, Gut I, Carracedo Á,

Evangelista A, Brion M. Eur J Clin Invest. 2016 Sep;46(9):787-94. doi: 10.1111/eci.12662.

PMID: 27442293


14. Medico-legal perspectives on sudden cardiac death in young athletes.

Oliva A, Grassi VM, Campuzano O, Brion M, Arena V, Partemi S, Coll M, Pascali VL, Brugada

J, Carracedo A, Brugada R. Int J Legal Med. 2016 Sep 21. Review.

PMID: 27654714


15. A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical

Pharmacogenomics.

Mizzi C, Dalabira E, Kumuthini J, Dzimiri N, Balogh I, Başak N, Böhm R, Borg J, Borgiani P,

Bozina N, Bruckmueller H, Burzynska B, Carracedo A, Cascorbi I, Deltas C, Dolzan V, Fenech

A, Grech G, Kasiulevicius V, Kádaši Ľ, Kučinskas V, Khusnutdinova E, Loukas YL, Macek M Jr,

Makukh H, Mathijssen R, Mitropoulos K, Mitropoulou C, Novelli G, Papantoni I, Pavlovic S,

Saglio G, Setric J, Stojiljkovic M, Stubbs AP, Squassina A, Torres M, Turnovec M, van Schaik







104

RH, Voskarides K, Wakil SM, Werk A, Del Zompo M, Zukic B, Katsila T, Lee MT, Motsinger-Rief

A, Mc Leod HL, van der Spek PJ, Patrinos GP. PLoS One. 2016 Sep 16;11(9):e0162866. doi:

10.1371/journal.pone.0162866.

PMID: 27636550


16. Development of a methylation marker set for forensic age estimation using analysis

of public methylation data and the Agena Bioscience Epityper system.

A. Freire-Aradas, C. Phillips, A. Mosquera-Miguel, L. Girón-Santamaría, A. Gómez-Tato, M.

Casares de Cal, J. Álvarez-Dios, J. Ansede-Bermejo, M. Torres-Español, P.M. Schneider, E.

Pospiech, W. Branicki, Á. Carracedo, M.V. Lareu. Forensic Sci Int Genet 2016 Sep;24:65-74.

doi: 10.1016/j.fsigen.2016.06.005. Epub 2016 Jun 8.

PMID:27337627


17. Sequence variation between 462 human individuals fine-tunes functional sites of RNA

processing.

Ferreira PG, Oti M, Barann M, Wieland T, Ezquina S, Friedländer MR, Rivas MA,

Esteve-Codina A; GEUVADIS Consortium., Rosenstiel P, Strom TM, Lappalainen T, Guigó R,

Sammeth M. Sci Rep. 2016 Sep 12;6:32406. doi: 10.1038/srep32406. PubMed Central PMCID:

PMC5019111.

PMID: 27617755


18. Gene-gene interactions between DRD3, MRP4 and CYP2B6 polymorphisms and its

influence on the pharmacokinetic parameters of efavirenz in HIV infected patients.

Sánchez-Martín A, Cabrera Figueroa S, Cruz R, Porras-Hurtado L, Calvo-Boyero F, Rasool M;

Tormes Team., Domínguez-Gil Hurlé A, Carracedo A. Drug Metab Pharmacokinet. 2016

Oct;31(5):349-355. doi: 10.1016/j.dmpk.2016.06.001. Epub 2016 Jun 27.

PMID: 27665700


105

PUBLICACIONES 2017

1. ESIGEM network.; ESPID meningococcal consortium – UK.; EUCLIDS consortium

members - Imperial College London (www.euclids-project.eu).. Natural resistance to

Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association

studies.

Martinón-Torres F, Png E, Khor CC, Davila S, Wright VJ, Sim KS, Vega A, Fachal L, Inwald D,

Nadel S, Carrol ED, Martinón-Torres N, Alonso SM, Carracedo A, Morteruel E, López-Bayón J,

Torre AC, Monge CC, de Aguilar PA, Torné EE, Martínez-Padilla MD, Martinón-Sánchez JM,

Levin M, Hibberd ML, Salas A; Sci Rep. 2016 Nov 2;6:35842. doi: 10.1038/srep35842. PubMed


PMID: 27805046


2. Comparative miRNA Analysis of Urine Extracellular Vesicles Isolated through Five

Different Methods.

Royo F, Diwan I, Tackett MR, Zuñiga P, Sanchez-Mosquera P, Loizaga-Iriarte A, Ugalde-Olano

A, Lacasa I, Perez A, Unda M, Carracedo A, Falcon-Perez JM. Cancers (Basel). 2016 Dec

10;8(12). pii: E112. PubMed Central PMCID: PMC5187510.

PMID: 27973407


3. Forensic SNP genotyping with SNaPshot: Technical considerations for the

development and optimization of multiplexed SNP assays.

Fondevila M, Børsting C, Phillips C, de la Puente M, Consortium EN, Carracedo A, Morling N,

Lareu MV. Forensic Sci Rev. 2017 Jan;29(1):57-76. Review.

PMID: 28119267


4. The genetic component of bicuspid aortic valve and aortic dilation. An exome-wide

association study.

106

Gago-Díaz M, Brion M, Gallego P, Calvo F, Robledo-Carmona J, Saura D, Sánchez V, Bermejo

J, Sevilla T, Newton-Cheh C, Carracedo Á, Muehlschlegel JD, García-Dorado D, Body SC,

Evangelista A. J Mol Cell Cardiol. 2017 Jan; 102:3-9. doi: 10.1016/j.yjmcc.2016.11.012. Epub

2016 Nov 25.

PMID: 27894865


5. New insights on prostate cancer progression.

Valcarcel-Jimenez L, Torrano V, Carracedo A. Cell Cycle. 2017 Jan 2;16(1):13-14. doi:

10.1080/15384101.2016.1235845. Epub 2016 Sep 20. PubMed Central PMCID: PMC5270526.

PMID: 27649586


6. Mitochondrial and nuclear DNA matching shapes metabolism and healthy ageing.

Latorre-Pellicer A, Moreno-Loshuertos R, Lechuga-Vieco AV, Sánchez-Cabo F, Torroja C, Acín-

Pérez R, Calvo E, Aix E, González-Guerra A, Logan A, Bernad-Miana ML, Romanos E, Cruz R,

Cogliati S, Sobrino B, Carracedo Á, Pérez-Martos A, Fernández-Silva P, Ruíz-Cabello J,

Murphy MP, Flores I, Vázquez J, Enríquez JA. Corrigendum: Nature. 2017 Feb

2;542(7639):124. doi: 10.1038/nature20773. Epub 2016 Dec 7.

PMID: 27926738


7. Alterations of gray and white matter morphology in obsessive compulsive disorder.

Gonçalves OF, Sousa S, Carvalho S, Leite J, Ganho A, Fernandes-Gonçalves A, Pocinho F,

Carracedo A, Sampaio A. Psicothema. 2017 Feb;29(1):35-42. doi:

10.7334/psicothema2016.86.

PMID: 28126056


8. Genome-wide association analysis implicates dysregulation of immunity genes in

chronic lymphocytic leukaemia.

107

Law PJ, Berndt SI, Speedy HE, Camp NJ, Sava GP, Skibola CF, Holroyd A, Joseph V, Sunter

NJ, Nieters A, Bea S, Monnereau A, Martin-Garcia D, Goldin LR, Clot G, Teras LR, Quintela I,

Birmann BM, Jayne S, Cozen W, Majid A, Smedby KE, Lan Q, Dearden C, Brooks-Wilson AR,

Hall AG, Purdue MP, Mainou-Fowler T, Vajdic CM, Jackson GH, Cocco P, Marr H, Zhang Y,

Zheng T, Giles GG, Lawrence C, Call TG,

Liebow M, Melbye M, Glimelius B, Mansouri L, Glenn M, Curtin K, Diver WR, Link BK, Conde L,

Bracci PM, Holly EA, Jackson RD, Tinker LF, Benavente Y, Boffetta P, Brennan P, Maynadie M,

McKay J, Albanes D, Weinstein S, Wang Z, Caporaso NE, Morton LM, Severson RK, Riboli E,

Vineis P, Vermeulen RC, Southey MC, Milne RL, Clavel J, Topka S, Spinelli JJ, Kraft P, Ennas

MG, Summerfield G, Ferri GM, Harris RJ, Miligi L, Pettitt AR, North KE, Allsup DJ, Fraumeni JF,

Bailey JR, Offit K, Pratt G, Hjalgrim H, Pepper C, Chanock SJ, Fegan C, Rosenquist R, de

Sanjose S, Carracedo A, Dyer MJ, Catovsky D, Campo E, Cerhan JR, Allan JM, Rothman N,

Houlston R, Slager S. Nat Commun. 2017 Feb 6;8:14175. doi: 10.1038/ncomms14175.


PMID: 28165464


9. European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical

Pharmacogenomics.

Mizzi C, Dalabira E, Kumuthini J, Dzimiri N, Balogh I, Başak N, Böhm R, Borg J, Borgiani P,

Bozina N, Bruckmueller H, Burzynska B, Carracedo A, Cascorbi I, Deltas C, Dolzan V, Fenech

A, Grech G, Kasiulevicius V, Kádaši Ľ, Kučinskas V, Khusnutdinova E, Loukas YL, Macek M Jr,

Makukh H, Mathijssen R, Mitropoulos K, Mitropoulou C, Novelli G, Papantoni I, Pavlovic S,

Saglio G, Sertić J, Stojiljkovic M, Stubbs AP, Squassina A, Torres M, Turnovec M, van Schaik

RH, Voskarides K, Wakil SM, Werk A, Del Zompo M, Zukic B, Katsila T, Lee MT, Motsinger-Rief

A, Mc Leod HL, van der Spek PJ, Patrinos GP. Correction: A PLoS One. 2017 Feb

16;12(2):e0172595. doi: 10.1371/journal.pone.0172595. eCollection 2017. PubMed Central

PMCID: PMC5313168.

PMID: 28207884


10. Medico-legal perspectives on sudden cardiac death in young athletes.

Oliva A, Grassi VM, Campuzano O, Brion M, Arena V, Partemi S, Coll M, Pascali VL, Brugada

J, Carracedo A, Brugada R. Int J Legal Med. 2017 Mar;131(2):393-409. doi: 10.1007/s00414-

016-1452-y. Epub 2016 Sep 21. Review.

108

PMID: 27654714


11. Patterns of Default Mode Network Deactivation in Obsessive Compulsive Disorder.

Gonçalves ÓF, Soares JM, Carvalho S, Leite J, Ganho-Ávila A, Fernandes-Gonçalves A,

Pocinho F, Carracedo A, Sampaio A. Sci Rep. 2017 Mar 13;7:44468. doi: 10.1038/srep44468.


PMID: 28287615


12. Promyelocytic Leukemia Protein, a Protein at the Crossroad of Oxidative Stress and

Metabolism.

Tessier S, Martin-Martin N, de Thé H, Carracedo A, Lallemand-Breitenbach V. Antioxid Redox

Signal. 2017 Mar 20;26(9):432-444. doi: 10.1089/ars.2016.6898. Epub 2016 Dec 12.

PMID: 27758112


13. A forensic multiplex of nine novel pentameric-repeat STRs.

de la Puente M, Phillips C, Fondevila M, Gelabert-Besada M, Carracedo Á, Lareu MV. Forensic

Sci Int Genet. 2017 Apr 15;29:154-164. doi: 10.1016/j.fsigen.2017.04.007. [Epub ahead of

print].

PMID: 28445836


14. Postmortem genetic testing should be recommended in sudden cardiac death cases

due to thoracic aortic dissection.

109

Gago-Díaz M, Ramos-Luis E, Zoppis S, Zorio E, Molina P, Braza-Boïls A, Giner J, Sobrino B,

Amigo J, Blanco-Verea A, Carracedo Á, Brion M. Int J Legal Med. 2017 Apr 8. doi:

10.1007/s00414-017-1583-9. [Epub ahead of print].

PMID: 28391405


15. Making progress in education: The EUROFORGEN master degree pilot project in

forensic genetics.

Carracedo A, Giardina E, Mosquera-Miguel A, Manzo L, Alvarez-Iglesias V, Schneider PM.

Forensic Sci Int Genet. 2017 May;28: e12-e13. doi: 10.1016/j.fsigen.2017.03.006. Epub 2017

Mar 6.

PMID: 28342796


16. ABCC3 Polymorphisms and mRNA Expression Influence the Concentration of a

Carboxylic Acid Metabolite in Patients on Clopidogrel and Aspirin Therapy.

Luchessi AD, Concheiro M, Germano JF, Silbiger VN, Bortolin RH, Cruz A, Quintela O, Brion M,

Carracedo A, Iñiguez A, Bravo M, López-Rivadulla M, Hirata RD, Sousa AG, Hirata MH. Basic

Clin Pharmacol Toxicol. 2017 May;120(5):466-474. doi: 10.1111/bcpt.12703. Epub 2017 Jan

16.

PMID: 27862978


17. Evaluation of the Qiagen 140-SNP forensic identification multiplex for massively

parallel sequencing.

de la Puente M, Phillips C, Santos C, Fondevila M, Carracedo Á, Lareu MV. Forensic Sci Int

Genet. 2017 May; 28:35-43. doi: 10.1016/j.fsigen.2017.01.012. Epub 2017 Jan 27.

PMID: 28160618


110

18. Stem cell-like transcriptional reprogramming mediates metastatic resistance to mTOR

inhibition.

Mateo F, Arenas EJ, Aguilar H, Serra-Musach J, de Garibay GR, Boni J, Maicas M, Du S, Iorio

F, Herranz-Ors C, Islam A, Prado X, Llorente A, Petit A, Vidal A, Català I, Soler T, Venturas G,

Rojo-Sebastian A, Serra H, Cuadras D, Blanco I, Lozano J, Canals F, Sieuwerts AM, de Weerd

V, Look MP, Puertas S, García N, Perkins AS, Bonifaci N, Skowron M, Gómez-Baldó L,

Hernández V, Martínez-Aranda A, Martínez-Iniesta M, Serrat X, Cerón J, Brunet J, Barretina

MP, Gil M, Falo C, Fernández A, Morilla I, Pernas S, Plà MJ, Andreu X, Seguí MA, Ballester R,

Castellà E, Nellist M, Morales S, Valls J, Velasco A, Matias-Guiu X, Figueras A, Sánchez-Mut

JV, Sánchez-Céspedes M, Cordero A, Gómez-Miragaya J, Palomero L, Gómez A, Gajewski TF,

Cohen EEW, Jesiotr M, Bodnar L, Quintela-Fandino M, López-Bigas N, Valdés-Mas R, Puente

XS, Viñals F, Casanovas O, Graupera M, Hernández-Losa J, Ramón Y Cajal S, García-Alonso

L, Saez-Rodriguez J, Esteller M, Sierra A, Martín-Martín N, Matheu A, Carracedo A, González-

Suárez E, Nanjundan M, Cortés J, Lázaro C, Odero MD, Martens JWM, Moreno-Bueno G,

Barcellos-Hoff MH, Villanueva A, Gomis RR, Pujana MA. Oncogene. 2017 May

11;36(19):2737-2749. doi: 10.1038/onc.2016.427. Epub 2016 Dec 19.

PMID: 27991928


19. Copy number variation analysis of patients with intellectual disability from North-

West Spain.

Quintela I, Eirís J, Gómez-Lado C, Pérez-Gay L, Dacruz D, Cruz R, Castro-Gago M, Míguez L,

Carracedo Á, Barros F. Gene. 2017 May 12. pii: S0378-1119(17)30365-7. doi:

10.1016/j.gene.2017.05.032. [Epub ahead of print]

PMID: 28506748


20. Micro and macro geographical analysis of Y-chromosome lineages in South Iberia.

Rey-González D, Gelabert-Besada M, Cruz R, Brisighelli F, Lopez-Soto M, Rasool M, Naseer

MI, Sánchez-Diz P, Carracedo A. Forensic Sci Int Genet. 2017 May 1. pii: S1872-

4973(17)30105-9. doi: 10.1016/j.fsigen.2017.04.021. [Epub ahead of print].

PMID: 28487219


111

21. Hepatic p63 regulates steatosis via IKKβ/ER stress.

Porteiro B, Fondevila MF, Delgado TC, Iglesias C, Imbernon M, Iruzubieta P, Crespo J, Zabala-

Letona A, Fernø J, González-Terán B, Matesanz N, Hernández-Cosido L, Marcos M, Tovar S,

Vidal A, Sánchez-Ceinos J, Malagon MM, Pombo C, Zalvide J, Carracedo A, Buque X, Dieguez

C, Sabio G, López M, Aspichueta P, Martínez-Chantar ML, Nogueiras R. Nat Commun. 2017

May 8;8:15111. doi: 10.1038/ncomms15111.

PMID: 28480888


22. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M,

Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I,

Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr,

Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC,

Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller

H. Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003. PubMed


PMID: 28475856


23. Quiescence-like Metabolism to Push Cancer Out of the Race.

Torrano V, Carracedo A. Cell Metab. 2017 May 2;25(5):997-999. doi:

10.1016/j.cmet.2017.04.027.

PMID: 28467946


24. Candidate predisposing germline copy number variants in early onset colorectal

cancer patients.

Brea-Fernandez AJ, Fernandez-Rozadilla C, Alvarez-Barona M, Azuara D, Ginesta MM, Clofent

J, de Castro L, Gonzalez D, Andreu M, Bessa X, Llor X, Xicola R, Jover R, Castells A, Castellvi-

Bel S, Capella G, Carracedo A, Ruiz-Ponte C. Clin Transl Oncol. 2017 May;19(5):625-632.

doi: 10.1007/s12094-016-1576-z. Epub 2016 Nov 25.

112

PMID: 27888432


25. A pathway-based association study reveals variants from Wnt signalling genes

contributing to asthma susceptibility.

Barreto-Luis A, Corrales A, Acosta-Herrera M, Gonzalez-Colino C, Cumplido J, Martinez-Tadeo

J, Carracedo A, Villar J, Carrillo T, Pino-Yanes M, Flores C. Clin Exp Allergy. 2017

May;47(5):618-626. doi: 10.1111/cea.12883. Epub 2017 Feb 5.

PMID: 28079285


26. Evaluating the Calling Performance of a Rare Disease NGS Panel for Single

Nucleotide and Copy Number Variants.

Cacheiro P, Ordóñez-Ugalde A, Quintáns B, Piñeiro-Hermida S, Amigo J, García-Murias M,

Pascual-Pascual SI, Grandas F, Arpa J, Carracedo A, Sobrido MJ. Mol Diagn Ther. 2017

Jun;21(3):303-313. doi: 10.1007/s40291-017-0268-x.

PMID: 28290094


27. A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1,

Mapping to SCA37, Causes Spinocerebellar Ataxia.

Seixas AI, Loureiro JR, Costa C, Ordóñez-Ugalde A, Marcelino H, Oliveira CL, Loureiro JL,

Dhingra A, Brandão E, Cruz VT, Timóteo A, Quintáns B, Rouleau GA, Rizzu P, Carracedo Á,

Bessa J, Heutink P, Sequeiros J, Sobrido MJ, Coutinho P, Silveira I. Am J Hum Genet. 2017

Jul 6;101(1):87-103. doi: 10.1016/j.ajhg.2017.06.007. PubMed Central PMCID: PMC5501871.

PMID: 28686858


28. Pleomorphism and drug resistant cancer stem cells are characteristic of aggressive

primary meningioma cell lines.

113

Khan I, Baeesa S, Bangash M, Schulten HJ, Alghamdi F, Qashqari H, Madkhali N, Carracedo

A, Saka M, Jamal A, Al-Maghrabi J, AlQahtani M, Al-Karim S, Damanhouri G, Saini K,

Chaudhary A, Abuzenadah A, Hussein D. Cancer Cell Int. 2017 Jul 21;17:72. doi:

10.1186/s12935-017-0441-7. eCollection 2017. PubMed Central PMCID: PMC5521079.

PMID: 28736504


29. Analysis of the R1b-DF27 haplogroup shows that a large fraction of Iberian Y-

chromosome lineages originated recently in situ.

Solé-Morata N, Villaescusa P, García-Fernández C, Font-Porterias N, Illescas MJ, Valverde L,

Tassi F, Ghirotto S, Férec C, Rouault K, Jiménez-Moreno S, Martínez-Jarreta B, Pinheiro MF,

Zarrabeitia MT, Carracedo Á, de Pancorbo MM, Calafell F. Sci Rep. 2017 Aug 4;7(1):7341. doi:

10.1038/s41598-017-07710-x. PubMed Central PMCID: PMC5544771.

PMID: 28779148


30. Touch Processing and Social Behavior in ASD.

O Miguel H, Sampaio A, Martínez-Regueiro R, Gómez-Guerrero L, López-Dóriga CG, Gómez

S, Carracedo Á, Fernández-Prieto M. J Autism Dev Disord. 2017 Aug;47(8):2425-2433.

doi:10.1007/s10803-017-3163-8.

PMID: 28534141


31. Copy number variation analysis of patients with intellectual disability from North-

West Spain.

Quintela I, Eirís J, Gómez-Lado C, Pérez-Gay L, Dacruz D, Cruz R, Castro-Gago M, Míguez L,

Carracedo Á, Barros F. Gene. 2017 Aug 30; 626:189-199. doi: 10.1016/j.gene.2017.05.032.

Epub 2017 May 12.

PMID: 28506748


114

32. Revised guidelines for the publication of genetic population data.

Gusmão L, Butler JM, Linacre A, Parson W, Roewer L, Schneider PM, Carracedo A. Forensic

Sci Int Genet. 2017 Sep; 30:160-163. doi: 10.1016/j.fsigen.2017.06.007. Epub 2017 Jun 23.

PMID: 28673498


33. Forensic genetics and genomics: Much more than just a human affair.

Arenas M, Pereira F, Oliveira M, Pinto N, Lopes AM, Gomes V, Carracedo A, Amorim A. PLoS

Genet. 2017 Sep 21;13(9):e1006960. doi: 10.1371/journal.pgen.1006960. eCollection 2017

Sep. Review. PubMed Central PMCID: PMC5608170.

PMID: 28934201


34. A new panel of SNPs to assess thyroid carcinoma risk: a pilot study in a Brazilian

admixture population.

Dos Santos ICC, Genre J, Marques D, da Silva AMG, Dos Santos JC, de Araújo JNG, Duarte

VHR, Carracedo A, Torres-Español M, Bastos G, de Oliveira Ramos CC, Luchessi AD, Silbiger

VN. BMC Med Genet. 2017 Nov 25;18(1):140. doi: 10.1186/s12881-017-0502-8. PubMed


PMID: 29178884


35. Identification of genes carrying rare variants of moderate to large effect in

schizophrenia: A replication study.

Rodríguez-López J, Amigo J, Sobrino B, Paz E, Carracedo Á, Páramo M, Arrojo M, Costas J.

Schizophr Res. 2017 Nov 21. pii: S0920-9964(17)30717-X. doi: 10.1016/j.schres.2017.11.021.

[Epub ahead of print].

PMID: 29174335


115

PUBLICACIONES DERIVADAS DE SERVICIOS PRESTADOS A USUARIOS EN EL

CEGEN - PRB2 - ISCIII

NODO CNIO

PUBLICACIONES 2014

1. In situ genetic association for serotiny, a fire-related trait, in Mediterranean maritime

pine (Pinus pinaster).

Budde KB, Heuertz M, Hernández-Serrano A, Pausas JG, Vendramin GG, Verdú M, González-

Martínez SC. New Phytol. 2014 Jan;201(1):230-41. doi: 10.1111/nph.12483. Epub 2013 Sep

10.

PMID: 24015853


2. Genome-wide association study identifies multiple loci associated with bladder cancer

risk.

Figueroa JD, Ye Y, Siddiq A, Garcia-Closas M, Chatterjee N, Prokunina-Olsson L, Cortessis VK, Kooperberg C, Cussenot O, Benhamou S, Prescott J, Porru S, Dinney CP, Malats N, Baris D, Purdue M, Jacobs EJ, Albanes D, Wang Z, Deng X, Chung CC, Tang W, Bas Bueno-de-Mesquita H, Trichopoulos D, Ljungberg B, Clavel-Chapelon F, Weiderpass E, Krogh V, Dorronsoro M, Travis R, Tjønneland A, Brenan P, Chang-Claude J, Riboli E, Conti D, Gago-Dominguez M, Stern MC, Pike MC, Van Den Berg D, Yuan JM, Hohensee C, Rodabough R, Cancel-Tassin G, Roupret M, Comperat E, Chen C, De Vivo I, Giovannucci E, Hunter DJ, Kraft P, Lindstrom S, Carta A, Pavanello S, Arici C, Mastrangelo G, Kamat AM, Lerner SP, Barton Grossman H, Lin J, Gu J, Pu X, Hutchinson A, Burdette L, Wheeler W, Kogevinas M, Tardón A, Serra C, Carrato A, García-Closas R, Lloreta J, Schwenn M, Karagas MR, Johnson A, Schned A, Armenti KR, Hosain GM, Andriole G Jr, Grubb R 3rd, Black A, Ryan Diver W, Gapstur SM, Weinstein SJ, Virtamo J, Haiman CA, Landi MT, Caporaso N, Fraumeni JF Jr, Vineis P, Wu X, Silverman DT, Chanock S, Rothman N. Hum Mol Genet. 2014 Mar 1;23(5):1387-98. doi: 10.1093/hmg/ddt519. Epub 2013 Oct 24. 24163127. PMID:24163127

FACTOR DE IMPACTO: 34.284 CUARTIL: D1 3. The interplay between natural selection and susceptibility to melanoma on allele 374F of SLC45A2 gene in a South European population. López S, García O, Yurrebaso I, Flores C, Acosta-Herrera M, Chen H, Gardeazabal J, Careaga JM, Boyano MD, Sánchez A, Ratón-Nieto JA, Sevilla A, Smith-Zubiaga I, de Galdeano

https://www.ncbi.nlm.nih.gov/pubmed/?term=Budde%20KB%5BAuthor%5D&cauthor=true&cauthor_uid=24015853

https://www.ncbi.nlm.nih.gov/pubmed/?term=Heuertz%20M%5BAuthor%5D&cauthor=true&cauthor_uid=24015853

https://www.ncbi.nlm.nih.gov/pubmed/?term=Hern%C3%A1ndez-Serrano%20A%5BAuthor%5D&cauthor=true&cauthor_uid=24015853

https://www.ncbi.nlm.nih.gov/pubmed/?term=Pausas%20JG%5BAuthor%5D&cauthor=true&cauthor_uid=24015853

https://www.ncbi.nlm.nih.gov/pubmed/?term=Vendramin%20GG%5BAuthor%5D&cauthor=true&cauthor_uid=24015853

https://www.ncbi.nlm.nih.gov/pubmed/?term=Verd%C3%BA%20M%5BAuthor%5D&cauthor=true&cauthor_uid=24015853

https://www.ncbi.nlm.nih.gov/pubmed/?term=Gonz%C3%A1lez-Mart%C3%ADnez%20SC%5BAuthor%5D&cauthor=true&cauthor_uid=24015853

https://www.ncbi.nlm.nih.gov/pubmed/?term=Gonz%C3%A1lez-Mart%C3%ADnez%20SC%5BAuthor%5D&cauthor=true&cauthor_uid=24015853

https://www.ncbi.nlm.nih.gov/pubmed/?term=In+situ+genetic+association+for+serotiny%2C+a+fire-related+trait%2C+in+Mediterranean+maritime+pine+(Pinus+pinaster).




https://www.ncbi.nlm.nih.gov/pubmed/?term=L%C3%B3pez%20S%5BAuthor%5D&cauthor=true&cauthor_uid=25093503

https://www.ncbi.nlm.nih.gov/pubmed/?term=Garc%C3%ADa%20O%5BAuthor%5D&cauthor=true&cauthor_uid=25093503

https://www.ncbi.nlm.nih.gov/pubmed/?term=Yurrebaso%20I%5BAuthor%5D&cauthor=true&cauthor_uid=25093503

https://www.ncbi.nlm.nih.gov/pubmed/?term=Flores%20C%5BAuthor%5D&cauthor=true&cauthor_uid=25093503

https://www.ncbi.nlm.nih.gov/pubmed/?term=Acosta-Herrera%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25093503

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https://www.ncbi.nlm.nih.gov/pubmed/?term=Careaga%20JM%5BAuthor%5D&cauthor=true&cauthor_uid=25093503

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https://www.ncbi.nlm.nih.gov/pubmed/?term=Sevilla%20A%5BAuthor%5D&cauthor=true&cauthor_uid=25093503

https://www.ncbi.nlm.nih.gov/pubmed/?term=Smith-Zubiaga%20I%5BAuthor%5D&cauthor=true&cauthor_uid=25093503

https://www.ncbi.nlm.nih.gov/pubmed/?term=de%20Galdeano%20AG%5BAuthor%5D&cauthor=true&cauthor_uid=25093503

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AG, Martinez-Cadenas C, Izagirre N, de la Rúa C, Alonso S. PLoS One. 2014 Aug 5;9(8):e104367. doi: 10.1371/journal.pone.0104367. eCollection 2014. PMID:25093503


4. Influence of genetic variants in TPMT and COMT associated with cisplatin induced hearing loss in patients with cancer: two new cohorts and a meta-analysis reveal significant heterogeneity between cohorts. Hagleitner MM1, Coenen MJ, Patino-Garcia A, de Bont ES, Gonzalez-Neira A, Vos HI, van Leeuwen FN, Gelderblom H, Hoogerbrugge PM, Guchelaar HJ, Te Loo MW. PLoS One. 2014 Dec 31;9(12): e115869. doi: 10.1371/journal.pone.0115869. eCollection 2014. PMID: 25551397


5. A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis. Julià A, Domènech E, Chaparro M, García-Sánchez V, Gomollón F, Panés J, Mañosa

M2 Barreiro-De Acosta M, Gutiérrez A, Garcia-Planella E, Aguas M, Muñoz F, Esteve

M, Mendoza JL, Vera M, Márquez L, Tortosa R, López-Lasanta M, Alonso A, Gelpí JL, García-

Montero AC, Bertranpetit J, Absher D, Myers RM, Gisbert JP, Marsal S. Hum Mol Genet. 2014

Dec 20;23(25):6927-34. doi: 10.1093/hmg/ddu398. Epub 2014 Jul 31.

PMID:25082827


PUBLICACIONES 2015 1. Variation at ABO histo-blood group and FUT loci and diffuse and intestinal gastric cancer risk in a European population. Duell EJ, Bonet C, Muñoz X, Lujan-Barroso L, Weiderpass E, Boutron-Ruault MC, Racine A, Severi G, Canzian F, Rizzato C, Boeing H, Overvad K, Tjønneland A, Argüelles M, Sánchez-Cantalejo E, Chamosa S, Huerta JM, Barricarte A, Khaw KT, Wareham N, Travis RC, Trichopoulou A, Trichopoulos D, Yiannakouris N, Palli D, Agnoli C, Tumino R, Naccarati A, Panico S, Bueno-de-Mesquita HB, Siersema PD, Peeters PH, Ohlsson B, Lindkvist B, Johansson I, Ye W, Johansson M, Fenger C, Riboli E, Sala N, González CA. Int J Cancer. 2015 Feb 15;136(4):880-93. doi: 10.1002/ijc.29034. Epub 2014 Jul 1. PMID:24947433

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https://www.ncbi.nlm.nih.gov/pubmed/?term=The+interplay+between+natural+selection+and+susceptibility+to+melanoma+on+allele+374F+of+SLC45A2+gene+in+a+South+European+population

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https://www.ncbi.nlm.nih.gov/pubmed/?term=Variation+at+ABO+histo-blood+group+and+FUT+loci+and+diffuse+and+intestinal+gastric+cancer+risk+in+a+European+population.

117


2. Case-control genome-wide association study of persistent attention-deficit

hyperactivity disorder identifies FBXO33 as a novel susceptibility gene for the disorder.

Sánchez-Mora C, Ramos-Quiroga JA, Bosch R, Corrales M, Garcia-Martínez I, Nogueira

M, Pagerols M, Palomar G, Richarte V, Vidal R, Arias-Vasquez A, Bustamante M, Forns

J, Gross-Lesch S, Guxens M, Hinney A, Hoogman M, Jacob C, Jacobsen KK, Kan

CC, Kiemeney L, Kittel-Schneider S, Klein M, Onnink M, Rivero O, Zayats T, Buitelaar

J, Faraone SV, Franke B, Haavik J, Johansson S, Lesch KP, Reif A, Sunyer J, Bayés M, Casas

M, Cormand B, Ribasés M. Neuropsychopharmacology. 2015 Mar;40(4):915-26. doi:

10.1038/npp.2014.267. Epub 2014 Oct 6.

PMID: 25284319

FACTOR DE IMPACTO: 4.409 CUARTIL: Q1 3. Identification of Risk Loci for Crohn's Disease Phenotypes Using a Genome-wide Association Study. Alonso A, Domènech E, Julià A, Panés J, García-Sánchez V, Mateu PN, Gutiérrez A, Gomollón

F, Mendoza JL, Garcia-Planella E, Barreiro-de Acosta M, Muñoz F, Vera M, Saro C, Esteve

M, Andreu M, Chaparro M, Manyé J, Cabré E, López-Lasanta M, Tortosa R, Gelpí JL, García-

Montero AC, Bertranpetit J, Absher D, Myers RM, Marsal S, Gisbert JP.

Gastroenterology. 2015 Apr;148(4):794-805. doi: 10.1053/j.gastro.2014.12.030. Epub 2014

Dec 31.

PMID: 25557950


4. New immune system genetic polymorphisms associated with moderate-to-severe plaque psoriasis: a case-control study.

Prieto-Pérez R, Solano-López G, Cabaleiro T, Román M, Ochoa D, Talegón M, Baniandrés O, Estebaranz JL, de la Cueva P, Daudén E, Abad-Santos F. Br J Dermatol. 2015 May;172(5):1432-5. doi: 10.1111/bjd.13585. Epub 2015 Mar 18. No abstract available. PMID: 25639754


5. Paradoxical psoriasiform reactions to anti-TNFα drugs are associated with genetic polymorphisms in patients with psoriasis.

https://www.ncbi.nlm.nih.gov/pubmed/?term=S%C3%A1nchez-Mora%20C%5BAuthor%5D&cauthor=true&cauthor_uid=25284319

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https://www.ncbi.nlm.nih.gov/pubmed/?term=Onnink%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25284319

https://www.ncbi.nlm.nih.gov/pubmed/?term=Rivero%20O%5BAuthor%5D&cauthor=true&cauthor_uid=25284319

https://www.ncbi.nlm.nih.gov/pubmed/?term=Zayats%20T%5BAuthor%5D&cauthor=true&cauthor_uid=25284319

https://www.ncbi.nlm.nih.gov/pubmed/?term=Buitelaar%20J%5BAuthor%5D&cauthor=true&cauthor_uid=25284319

https://www.ncbi.nlm.nih.gov/pubmed/?term=Buitelaar%20J%5BAuthor%5D&cauthor=true&cauthor_uid=25284319

https://www.ncbi.nlm.nih.gov/pubmed/?term=Faraone%20SV%5BAuthor%5D&cauthor=true&cauthor_uid=25284319

https://www.ncbi.nlm.nih.gov/pubmed/?term=Franke%20B%5BAuthor%5D&cauthor=true&cauthor_uid=25284319

https://www.ncbi.nlm.nih.gov/pubmed/?term=Haavik%20J%5BAuthor%5D&cauthor=true&cauthor_uid=25284319

https://www.ncbi.nlm.nih.gov/pubmed/?term=Johansson%20S%5BAuthor%5D&cauthor=true&cauthor_uid=25284319

https://www.ncbi.nlm.nih.gov/pubmed/?term=Lesch%20KP%5BAuthor%5D&cauthor=true&cauthor_uid=25284319

https://www.ncbi.nlm.nih.gov/pubmed/?term=Reif%20A%5BAuthor%5D&cauthor=true&cauthor_uid=25284319

https://www.ncbi.nlm.nih.gov/pubmed/?term=Sunyer%20J%5BAuthor%5D&cauthor=true&cauthor_uid=25284319

https://www.ncbi.nlm.nih.gov/pubmed/?term=Bay%C3%A9s%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25284319

https://www.ncbi.nlm.nih.gov/pubmed/?term=Casas%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25284319

https://www.ncbi.nlm.nih.gov/pubmed/?term=Casas%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25284319

https://www.ncbi.nlm.nih.gov/pubmed/?term=Cormand%20B%5BAuthor%5D&cauthor=true&cauthor_uid=25284319

https://www.ncbi.nlm.nih.gov/pubmed/?term=Ribas%C3%A9s%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25284319

https://www.ncbi.nlm.nih.gov/pubmed/?term=Case-control+genome-wide+association+study+of+persistent+attention-deficit+hyperactivity+disorder+identifies+FBXO33+as+a+novel+susceptibility+gene+for+the+disorder.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Alonso%20A%5BAuthor%5D&cauthor=true&cauthor_uid=25557950

https://www.ncbi.nlm.nih.gov/pubmed/?term=Dom%C3%A8nech%20E%5BAuthor%5D&cauthor=true&cauthor_uid=25557950

https://www.ncbi.nlm.nih.gov/pubmed/?term=Juli%C3%A0%20A%5BAuthor%5D&cauthor=true&cauthor_uid=25557950

https://www.ncbi.nlm.nih.gov/pubmed/?term=Pan%C3%A9s%20J%5BAuthor%5D&cauthor=true&cauthor_uid=25557950

https://www.ncbi.nlm.nih.gov/pubmed/?term=Garc%C3%ADa-S%C3%A1nchez%20V%5BAuthor%5D&cauthor=true&cauthor_uid=25557950

https://www.ncbi.nlm.nih.gov/pubmed/?term=Mateu%20PN%5BAuthor%5D&cauthor=true&cauthor_uid=25557950




https://www.ncbi.nlm.nih.gov/pubmed/?term=Mendoza%20JL%5BAuthor%5D&cauthor=true&cauthor_uid=25557950

https://www.ncbi.nlm.nih.gov/pubmed/?term=Garcia-Planella%20E%5BAuthor%5D&cauthor=true&cauthor_uid=25557950

https://www.ncbi.nlm.nih.gov/pubmed/?term=Barreiro-de%20Acosta%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25557950

https://www.ncbi.nlm.nih.gov/pubmed/?term=Mu%C3%B1oz%20F%5BAuthor%5D&cauthor=true&cauthor_uid=25557950

https://www.ncbi.nlm.nih.gov/pubmed/?term=Vera%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25557950

https://www.ncbi.nlm.nih.gov/pubmed/?term=Saro%20C%5BAuthor%5D&cauthor=true&cauthor_uid=25557950



https://www.ncbi.nlm.nih.gov/pubmed/?term=Andreu%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25557950

https://www.ncbi.nlm.nih.gov/pubmed/?term=Chaparro%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25557950

https://www.ncbi.nlm.nih.gov/pubmed/?term=Many%C3%A9%20J%5BAuthor%5D&cauthor=true&cauthor_uid=25557950

https://www.ncbi.nlm.nih.gov/pubmed/?term=Cabr%C3%A9%20E%5BAuthor%5D&cauthor=true&cauthor_uid=25557950

https://www.ncbi.nlm.nih.gov/pubmed/?term=L%C3%B3pez-Lasanta%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25557950

https://www.ncbi.nlm.nih.gov/pubmed/?term=Tortosa%20R%5BAuthor%5D&cauthor=true&cauthor_uid=25557950

https://www.ncbi.nlm.nih.gov/pubmed/?term=Gelp%C3%AD%20JL%5BAuthor%5D&cauthor=true&cauthor_uid=25557950



https://www.ncbi.nlm.nih.gov/pubmed/?term=Bertranpetit%20J%5BAuthor%5D&cauthor=true&cauthor_uid=25557950


https://www.ncbi.nlm.nih.gov/pubmed/?term=Myers%20RM%5BAuthor%5D&cauthor=true&cauthor_uid=25557950

https://www.ncbi.nlm.nih.gov/pubmed/?term=Marsal%20S%5BAuthor%5D&cauthor=true&cauthor_uid=25557950

https://www.ncbi.nlm.nih.gov/pubmed/?term=Gisbert%20JP%5BAuthor%5D&cauthor=true&cauthor_uid=25557950






118

Cabaleiro T, Prieto-Pérez R, Navarro R, Solano G, Román M, Ochoa D, Abad-Santos F, Daudén E. Pharmacogenomics J. 2015 Jul 21. doi: 10.1038/tpj.2015.53. [Epub ahead of print].

PMID: 26194362


6. DNA Methylation Profiling in Pheochromocytoma and Paraganglioma Reveals

Diagnostic and Prognostic Markers.

de Cubas AA, Korpershoek E, Inglada-Pérez L, Letouzé E, Currás-Freixes M, Fernández

AF, Comino-Méndez I, Schiavi F, Mancikova V, Eisenhofer G, Mannelli M, Opocher G, Timmers

H, Beuschlein F, de Krijger R, Cascon A, Rodríguez-Antona C, Fraga MF, Favier J, Gimenez-

Roqueplo AP, Robledo M. Clin Cancer Res. 2015 Jul 1;21(13):3020-30. doi: 10.1158/1078-

0432.CCR-14-2804. Epub 2015 Mar 30.

PMID: 25825477

FACTOR DE IMPACTO: 8.738 CUARTIL: D1 7. FABP4 plasma concentrations are determined by acquired metabolic derangements

rather than genetic determinants.

D. Ibarretxe, J. Girona, N. Plana, A. Cabré, M. Heras, R. Ferré, J. Merino, J.C. Vallvé, L. Nutr

Metab Cardiovasc Dis. 2015 Sep;25(9):875-80. doi: 10.1016/j.numecd.2015.05.008. Epub

2015 Jun 11.

PMID: 26141940


8. Polymorphisms in LPL, CETP, and HL Protect HIV-Infected Patients from Atherogenic

Dyslipidemia in an Allele-Dose-Dependent Manner.

Guardiola M, Echeverria P, González M, Vallvé JC, Puig J, Clotet B, Ribalta J, Negredo E. AIDS Res Hum Retroviruses. 2015 Sep;31(9):882-8. doi: 10.1089/AID.2015.0061. Epub 2015 Jul 20.

PMID:26101956


https://www.ncbi.nlm.nih.gov/pubmed/?term=de%20Cubas%20AA%5BAuthor%5D&cauthor=true&cauthor_uid=25825477

https://www.ncbi.nlm.nih.gov/pubmed/?term=Korpershoek%20E%5BAuthor%5D&cauthor=true&cauthor_uid=25825477

https://www.ncbi.nlm.nih.gov/pubmed/?term=Inglada-P%C3%A9rez%20L%5BAuthor%5D&cauthor=true&cauthor_uid=25825477

https://www.ncbi.nlm.nih.gov/pubmed/?term=Letouz%C3%A9%20E%5BAuthor%5D&cauthor=true&cauthor_uid=25825477

https://www.ncbi.nlm.nih.gov/pubmed/?term=Curr%C3%A1s-Freixes%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25825477

https://www.ncbi.nlm.nih.gov/pubmed/?term=Fern%C3%A1ndez%20AF%5BAuthor%5D&cauthor=true&cauthor_uid=25825477


https://www.ncbi.nlm.nih.gov/pubmed/?term=Comino-M%C3%A9ndez%20I%5BAuthor%5D&cauthor=true&cauthor_uid=25825477

https://www.ncbi.nlm.nih.gov/pubmed/?term=Schiavi%20F%5BAuthor%5D&cauthor=true&cauthor_uid=25825477

https://www.ncbi.nlm.nih.gov/pubmed/?term=Mancikova%20V%5BAuthor%5D&cauthor=true&cauthor_uid=25825477

https://www.ncbi.nlm.nih.gov/pubmed/?term=Eisenhofer%20G%5BAuthor%5D&cauthor=true&cauthor_uid=25825477

https://www.ncbi.nlm.nih.gov/pubmed/?term=Mannelli%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25825477

https://www.ncbi.nlm.nih.gov/pubmed/?term=Opocher%20G%5BAuthor%5D&cauthor=true&cauthor_uid=25825477

https://www.ncbi.nlm.nih.gov/pubmed/?term=Timmers%20H%5BAuthor%5D&cauthor=true&cauthor_uid=25825477

https://www.ncbi.nlm.nih.gov/pubmed/?term=Timmers%20H%5BAuthor%5D&cauthor=true&cauthor_uid=25825477

https://www.ncbi.nlm.nih.gov/pubmed/?term=Beuschlein%20F%5BAuthor%5D&cauthor=true&cauthor_uid=25825477

https://www.ncbi.nlm.nih.gov/pubmed/?term=de%20Krijger%20R%5BAuthor%5D&cauthor=true&cauthor_uid=25825477

https://www.ncbi.nlm.nih.gov/pubmed/?term=Cascon%20A%5BAuthor%5D&cauthor=true&cauthor_uid=25825477

https://www.ncbi.nlm.nih.gov/pubmed/?term=Rodr%C3%ADguez-Antona%20C%5BAuthor%5D&cauthor=true&cauthor_uid=25825477

https://www.ncbi.nlm.nih.gov/pubmed/?term=Fraga%20MF%5BAuthor%5D&cauthor=true&cauthor_uid=25825477

https://www.ncbi.nlm.nih.gov/pubmed/?term=Favier%20J%5BAuthor%5D&cauthor=true&cauthor_uid=25825477

https://www.ncbi.nlm.nih.gov/pubmed/?term=Gimenez-Roqueplo%20AP%5BAuthor%5D&cauthor=true&cauthor_uid=25825477

https://www.ncbi.nlm.nih.gov/pubmed/?term=Gimenez-Roqueplo%20AP%5BAuthor%5D&cauthor=true&cauthor_uid=25825477

https://www.ncbi.nlm.nih.gov/pubmed/?term=Robledo%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25825477

https://www.ncbi.nlm.nih.gov/pubmed/?term=DNA+Methylation+Profiling+in+Pheochromocytoma+and+Paraganglioma+Reveals+Diagnostic+and+Prognostic+Markers

https://www.ncbi.nlm.nih.gov/pubmed/?term=FABP4+plasma+concentrations+are+determined+by+acquired+metabolic+derangements+rather+than+genetic+determinants.

https://www.ncbi.nlm.nih.gov/pubmed/?term=FABP4+plasma+concentrations+are+determined+by+acquired+metabolic+derangements+rather+than+genetic+determinants.


119

9. Aberrant epigenome in iPSC-derived dopaminergic neurons from Parkinson's disease patients. Fernández-Santiago R, Carballo-Carbajal I, Castellano G, Torrent R, Richaud Y, Sánchez-Danés A, Vilarrasa-Blasi R, Sánchez-Pla A, Mosquera JL, Soriano J, López-Barneo J, Canals JM, Alberch J, Raya Á, Vila M, Consiglio A, Martín-Subero JI, Ezquerra M, Tolosa E. EMBO Mol Med. 2015 Dec;7(12):1529-46. doi: 10.15252/emmm.201505439.

PMID: 26516212


PUBLICACIONES 2016 1. Role of HIF1A, VEGFA and VEGFR2 SNPs in the Susceptibility and Progression of

COPD in a Spanish Population.

Baz-Dávila R, Espinoza-Jiménez A, Rodríguez-Pérez Mdel C, Zulueta J, Varo N, Montejo

Á, Almeida-González D, Aguirre-Jaime A, Córdoba-Lanús E, Casanova C. PLoS One. 2016

May 10;11(5): e0154998. doi: 10.1371/journal.pone.0154998. eCollection 2016.


2. Age-associated hydroxymethylation in human bone-marrow mesenchymal stem cells.

Toraño EG, Bayón GF, Del Real Á, Sierra MI, García MG, Carella A, Belmonte T, Urdinguio

RG, Cubillo I, García-Castro J, Delgado-Calle J, Pérez-Campo FM, Riancho JA, Fraga

MF, Fernández AF. J Transl Med. 2016 Jul 8;14(1):207. doi: 10.1186/s12967-016-0966-x.


3. Association between genetic variants of serotonergic and glutamatergic pathways and

the concentration of neurometabolites of the anterior cingulate cortex in paediatric

patients with obsessive-compulsive disorder.

Ortiz AE, Gassó P, Mas S, Falcon C, Bargalló N, Lafuente A, Lázaro L. World J Biol

Psychiatry. 2016 Aug;17(5):394-404. doi: 10.3109/15622975.2015.1111524.


https://www.ncbi.nlm.nih.gov/pubmed/?term=Fern%C3%A1ndez-Santiago%20R%5BAuthor%5D&cauthor=true&cauthor_uid=26516212

https://www.ncbi.nlm.nih.gov/pubmed/?term=Carballo-Carbajal%20I%5BAuthor%5D&cauthor=true&cauthor_uid=26516212

https://www.ncbi.nlm.nih.gov/pubmed/?term=Castellano%20G%5BAuthor%5D&cauthor=true&cauthor_uid=26516212

https://www.ncbi.nlm.nih.gov/pubmed/?term=Torrent%20R%5BAuthor%5D&cauthor=true&cauthor_uid=26516212

https://www.ncbi.nlm.nih.gov/pubmed/?term=Richaud%20Y%5BAuthor%5D&cauthor=true&cauthor_uid=26516212

https://www.ncbi.nlm.nih.gov/pubmed/?term=S%C3%A1nchez-Dan%C3%A9s%20A%5BAuthor%5D&cauthor=true&cauthor_uid=26516212

https://www.ncbi.nlm.nih.gov/pubmed/?term=S%C3%A1nchez-Dan%C3%A9s%20A%5BAuthor%5D&cauthor=true&cauthor_uid=26516212

https://www.ncbi.nlm.nih.gov/pubmed/?term=Vilarrasa-Blasi%20R%5BAuthor%5D&cauthor=true&cauthor_uid=26516212

https://www.ncbi.nlm.nih.gov/pubmed/?term=S%C3%A1nchez-Pla%20A%5BAuthor%5D&cauthor=true&cauthor_uid=26516212

https://www.ncbi.nlm.nih.gov/pubmed/?term=Mosquera%20JL%5BAuthor%5D&cauthor=true&cauthor_uid=26516212

https://www.ncbi.nlm.nih.gov/pubmed/?term=Soriano%20J%5BAuthor%5D&cauthor=true&cauthor_uid=26516212

https://www.ncbi.nlm.nih.gov/pubmed/?term=L%C3%B3pez-Barneo%20J%5BAuthor%5D&cauthor=true&cauthor_uid=26516212

https://www.ncbi.nlm.nih.gov/pubmed/?term=Canals%20JM%5BAuthor%5D&cauthor=true&cauthor_uid=26516212

https://www.ncbi.nlm.nih.gov/pubmed/?term=Canals%20JM%5BAuthor%5D&cauthor=true&cauthor_uid=26516212

https://www.ncbi.nlm.nih.gov/pubmed/?term=Alberch%20J%5BAuthor%5D&cauthor=true&cauthor_uid=26516212

https://www.ncbi.nlm.nih.gov/pubmed/?term=Raya%20%C3%81%5BAuthor%5D&cauthor=true&cauthor_uid=26516212

https://www.ncbi.nlm.nih.gov/pubmed/?term=Vila%20M%5BAuthor%5D&cauthor=true&cauthor_uid=26516212

https://www.ncbi.nlm.nih.gov/pubmed/?term=Consiglio%20A%5BAuthor%5D&cauthor=true&cauthor_uid=26516212

https://www.ncbi.nlm.nih.gov/pubmed/?term=Mart%C3%ADn-Subero%20JI%5BAuthor%5D&cauthor=true&cauthor_uid=26516212

https://www.ncbi.nlm.nih.gov/pubmed/?term=Ezquerra%20M%5BAuthor%5D&cauthor=true&cauthor_uid=26516212

https://www.ncbi.nlm.nih.gov/pubmed/?term=Tolosa%20E%5BAuthor%5D&cauthor=true&cauthor_uid=26516212

https://www.ncbi.nlm.nih.gov/pubmed/?term=Aberrant+epigenome+in+iPSC-derived+dopaminergic+neurons+from+Parkinson%27s+disease+patients

https://www.ncbi.nlm.nih.gov/pubmed/?term=Aberrant+epigenome+in+iPSC-derived+dopaminergic+neurons+from+Parkinson%27s+disease+patients

https://www.ncbi.nlm.nih.gov/pubmed/?term=Baz-D%C3%A1vila%20R%5BAuthor%5D&cauthor=true&cauthor_uid=27163696

https://www.ncbi.nlm.nih.gov/pubmed/?term=Espinoza-Jim%C3%A9nez%20A%5BAuthor%5D&cauthor=true&cauthor_uid=27163696

https://www.ncbi.nlm.nih.gov/pubmed/?term=Rodr%C3%ADguez-P%C3%A9rez%20Mdel%20C%5BAuthor%5D&cauthor=true&cauthor_uid=27163696

https://www.ncbi.nlm.nih.gov/pubmed/?term=Zulueta%20J%5BAuthor%5D&cauthor=true&cauthor_uid=27163696

https://www.ncbi.nlm.nih.gov/pubmed/?term=Varo%20N%5BAuthor%5D&cauthor=true&cauthor_uid=27163696

https://www.ncbi.nlm.nih.gov/pubmed/?term=Montejo%20%C3%81%5BAuthor%5D&cauthor=true&cauthor_uid=27163696

https://www.ncbi.nlm.nih.gov/pubmed/?term=Montejo%20%C3%81%5BAuthor%5D&cauthor=true&cauthor_uid=27163696

https://www.ncbi.nlm.nih.gov/pubmed/?term=Almeida-Gonz%C3%A1lez%20D%5BAuthor%5D&cauthor=true&cauthor_uid=27163696

https://www.ncbi.nlm.nih.gov/pubmed/?term=Aguirre-Jaime%20A%5BAuthor%5D&cauthor=true&cauthor_uid=27163696

https://www.ncbi.nlm.nih.gov/pubmed/?term=C%C3%B3rdoba-Lan%C3%BAs%20E%5BAuthor%5D&cauthor=true&cauthor_uid=27163696

https://www.ncbi.nlm.nih.gov/pubmed/?term=Casanova%20C%5BAuthor%5D&cauthor=true&cauthor_uid=27163696

https://www.ncbi.nlm.nih.gov/pubmed/?term=Role+of+HIF1A%2C+VEGFA+and+VEGFR2+SNPs+in+the+Susceptibility+and+Progression+of+COPD+in+a+Spanish+Population.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Tora%C3%B1o%20EG%5BAuthor%5D&cauthor=true&cauthor_uid=27393146

https://www.ncbi.nlm.nih.gov/pubmed/?term=Bay%C3%B3n%20GF%5BAuthor%5D&cauthor=true&cauthor_uid=27393146

https://www.ncbi.nlm.nih.gov/pubmed/?term=Del%20Real%20%C3%81%5BAuthor%5D&cauthor=true&cauthor_uid=27393146

https://www.ncbi.nlm.nih.gov/pubmed/?term=Sierra%20MI%5BAuthor%5D&cauthor=true&cauthor_uid=27393146

https://www.ncbi.nlm.nih.gov/pubmed/?term=Garc%C3%ADa%20MG%5BAuthor%5D&cauthor=true&cauthor_uid=27393146

https://www.ncbi.nlm.nih.gov/pubmed/?term=Carella%20A%5BAuthor%5D&cauthor=true&cauthor_uid=27393146

https://www.ncbi.nlm.nih.gov/pubmed/?term=Belmonte%20T%5BAuthor%5D&cauthor=true&cauthor_uid=27393146

https://www.ncbi.nlm.nih.gov/pubmed/?term=Urdinguio%20RG%5BAuthor%5D&cauthor=true&cauthor_uid=27393146

https://www.ncbi.nlm.nih.gov/pubmed/?term=Urdinguio%20RG%5BAuthor%5D&cauthor=true&cauthor_uid=27393146

https://www.ncbi.nlm.nih.gov/pubmed/?term=Cubillo%20I%5BAuthor%5D&cauthor=true&cauthor_uid=27393146

https://www.ncbi.nlm.nih.gov/pubmed/?term=Garc%C3%ADa-Castro%20J%5BAuthor%5D&cauthor=true&cauthor_uid=27393146

https://www.ncbi.nlm.nih.gov/pubmed/?term=Delgado-Calle%20J%5BAuthor%5D&cauthor=true&cauthor_uid=27393146

https://www.ncbi.nlm.nih.gov/pubmed/?term=P%C3%A9rez-Campo%20FM%5BAuthor%5D&cauthor=true&cauthor_uid=27393146

https://www.ncbi.nlm.nih.gov/pubmed/?term=Riancho%20JA%5BAuthor%5D&cauthor=true&cauthor_uid=27393146




https://www.ncbi.nlm.nih.gov/pubmed/?term=Age-associated+hydroxymethylation+in+human+bone-marrow+mesenchymal+stem+cells.




120

4. A genome-wide association meta-analysis of diarrhoeal disease in young children identifies FUT2 locus and provides plausible biological pathways. Bustamante M, Standl M, Bassat Q, Vilor-Tejedor N, Medina-Gomez C, Bonilla C, Ahluwalia TS, Bacelis J, Bradfield JP, Tiesler CM, Rivadeneira F, Ring S, Vissing NH, Fink NR, Jugessur A, Mentch FD, Ballester F, Kriebel J, Kiefte-de Jong JC, Wolsk HM, Llop S, Thiering E, Beth SA, Timpson NJ, Andersen J, Schulz H, Jaddoe VW, Evans DM, Waage J, Hakonarson H, Grant SF, Jacobsson B, Bønnelykke K, Bisgaard H, Davey Smith G, Moll HA, Heinrich J, Estivill X, Sunyer J. Hum Mol Genet. 2016 Sep 15;25(18):4127-4142. doi: 10.1093/hmg/ddw264. Epub 2016 Aug 23. PMID: 27559109 FACTOR DE IMPACTO: 5.985 CUARTIL: D1

5. Identification and validation of seven new loci showing differential DNA methylation

related to serum lipid profile: an epigenome-wide approach.

Sayols-Baixeras S, Subirana I, Lluis-Ganella C, Civeira F, Roquer J, Do AN, Absher D, Cenarro

A, Muñoz D, Soriano-Tárraga C, Jiménez-Conde J, Ordovas JM, Senti M, Aslibekyan

S, Marrugat J, Arnett DK, Elosua R. Hum Mol Genet. 2016 Sep 15. pii: ddw285. [Epub ahead

of print].

PMID: 28173150 FACTOR DE IMPACTO: 5.985 CUARTIL: D1 6. Development Refractoriness of MLL-Rearranged Human B Cell Acute Leukemias to Reprogramming into Pluripotency. Alvaro Muñoz-López, Damià Romero-Moya, Cristina Prieto, Verónica Ramos-Mejía, Antonio

Agraz-Doblas, Ignacio Varela, Marcus Buschbeck, Anna Palau, Xonia Carvajal-Vergara,

Alessandra Giorgetti, Anthony Ford, Majlinda Lako, Isabel Granada, Neus Ruiz-Xivillé, Sandra

Rodríguez-Perales, Raul Torres-Ruíz, Ronald W. Stam, Jose Luis Fuster, Mario F. Fraga,

Mahito Nakanishi, Gianni Cazzaniga, Michela Bardini, Isabel Cobo, Gustavo F. Bayon,

Agustin F. Fernandez, Clara Bueno, Pablo Menendez. Stem Cell Reports. 2016 Sept 30.

http://dx.doi.org/10.1016/j.stemcr.2016.08.013.


7. Heritability and Genome-Wide Association Analyses of Sleep Duration in Children: The EAGLE Consotium.


https://www.ncbi.nlm.nih.gov/pubmed/?term=Standl%20M%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Bassat%20Q%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Vilor-Tejedor%20N%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Medina-Gomez%20C%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Bonilla%20C%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Ahluwalia%20TS%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Ahluwalia%20TS%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Bacelis%20J%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Bradfield%20JP%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Tiesler%20CM%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Rivadeneira%20F%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Ring%20S%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Vissing%20NH%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Fink%20NR%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Jugessur%20A%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Jugessur%20A%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Mentch%20FD%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Ballester%20F%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Kriebel%20J%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Kiefte-de%20Jong%20JC%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Wolsk%20HM%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Llop%20S%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Thiering%20E%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Beth%20SA%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Beth%20SA%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Timpson%20NJ%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Andersen%20J%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Schulz%20H%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Jaddoe%20VW%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Evans%20DM%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Waage%20J%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Hakonarson%20H%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Hakonarson%20H%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Grant%20SF%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Jacobsson%20B%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=B%C3%B8nnelykke%20K%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Bisgaard%20H%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Davey%20Smith%20G%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Moll%20HA%5BAuthor%5D&cauthor=true&cauthor_uid=27559109

https://www.ncbi.nlm.nih.gov/pubmed/?term=Heinrich%20J%5BAuthor%5D&cauthor=true&cauthor_uid=27559109




https://www.ncbi.nlm.nih.gov/pubmed/?term=A+genome-wide+association+meta-analysis+of+diarrhoeal+disease+in+young+children+identifies+FUT2+locus+and+provides+plausible+biological+pathways.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Sayols-Baixeras%20S%5BAuthor%5D&cauthor=true&cauthor_uid=27634649

https://www.ncbi.nlm.nih.gov/pubmed/?term=Subirana%20I%5BAuthor%5D&cauthor=true&cauthor_uid=27634649

https://www.ncbi.nlm.nih.gov/pubmed/?term=Lluis-Ganella%20C%5BAuthor%5D&cauthor=true&cauthor_uid=27634649

https://www.ncbi.nlm.nih.gov/pubmed/?term=Civeira%20F%5BAuthor%5D&cauthor=true&cauthor_uid=27634649

https://www.ncbi.nlm.nih.gov/pubmed/?term=Roquer%20J%5BAuthor%5D&cauthor=true&cauthor_uid=27634649

https://www.ncbi.nlm.nih.gov/pubmed/?term=Do%20AN%5BAuthor%5D&cauthor=true&cauthor_uid=27634649


https://www.ncbi.nlm.nih.gov/pubmed/?term=Cenarro%20A%5BAuthor%5D&cauthor=true&cauthor_uid=27634649

https://www.ncbi.nlm.nih.gov/pubmed/?term=Cenarro%20A%5BAuthor%5D&cauthor=true&cauthor_uid=27634649

https://www.ncbi.nlm.nih.gov/pubmed/?term=Mu%C3%B1oz%20D%5BAuthor%5D&cauthor=true&cauthor_uid=27634649

https://www.ncbi.nlm.nih.gov/pubmed/?term=Soriano-T%C3%A1rraga%20C%5BAuthor%5D&cauthor=true&cauthor_uid=27634649

https://www.ncbi.nlm.nih.gov/pubmed/?term=Jim%C3%A9nez-Conde%20J%5BAuthor%5D&cauthor=true&cauthor_uid=27634649

https://www.ncbi.nlm.nih.gov/pubmed/?term=Ordovas%20JM%5BAuthor%5D&cauthor=true&cauthor_uid=27634649

https://www.ncbi.nlm.nih.gov/pubmed/?term=Senti%20M%5BAuthor%5D&cauthor=true&cauthor_uid=27634649

https://www.ncbi.nlm.nih.gov/pubmed/?term=Aslibekyan%20S%5BAuthor%5D&cauthor=true&cauthor_uid=27634649

https://www.ncbi.nlm.nih.gov/pubmed/?term=Aslibekyan%20S%5BAuthor%5D&cauthor=true&cauthor_uid=27634649

https://www.ncbi.nlm.nih.gov/pubmed/?term=Marrugat%20J%5BAuthor%5D&cauthor=true&cauthor_uid=27634649

https://www.ncbi.nlm.nih.gov/pubmed/?term=Arnett%20DK%5BAuthor%5D&cauthor=true&cauthor_uid=27634649

https://www.ncbi.nlm.nih.gov/pubmed/?term=Elosua%20R%5BAuthor%5D&cauthor=true&cauthor_uid=27634649

https://www.ncbi.nlm.nih.gov/pubmed/?term=Identification+and+validation+of+seven+new+loci+showing+differential+DNA+methylation+related+to+serum+lipid+profile%3A+an+epigenome-wide+approach.

http://dx.doi.org/10.1016/j.stemcr.2016.08.013

121

Marinelli M, Pappa I, Bustamante M, Bonilla C, Suarez A, Tiesler CM, Vilor-Tejedor N, Zafarmand MH, Alvarez-Pedrerol M, Andersson S, Bakermans-Kranenburg MJ, Estivill X, Evans DM, Flexeder C, Forns J, Gonzalez JR, Guxens M, Huss A, van IJzendoorn MH, Jaddoe VW, Julvez J, Lahti J, López-Vicente M, Lopez-Espinosa MJ, Manz J, Mileva-Seitz VR, Perola M, Pesonen AK, Rivadeneira F, Salo PP, Shahand S, Schulz H, Standl M, Thiering E, Timpson NJ, Torrent M, Uitterlinden AG, Smith GD, Estarlich M, Heinrich J, Räikkönen K, Vrijkotte TG, Tiemeier H, Sunyer J. Sleep. 2016 Oct 1;39(10):1859-1869. PMID: 27568811 FACTOR DE IMPACTO: 4.793 CUARTIL: Q1

8. Association of CACNA1C and SYNE1 in offspring of patients with psychiatric

disorders.

Gassó P, Sánchez-Gistau V, Mas S, Sugranyes G, Rodríguez N, Boloc D, de la Serna

E, Romero S, Moreno D, Moreno C, Díaz-Caneja CM, Lafuente A, Castro-Fornieles J.

Psychiatry Res. 2016 Nov 30;245:427-435. doi: 10.1016/j.psychres.2016.08.058. Epub 2016

Sep 2.


PUBLICACIONES 2017

1. Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia.

Reina-Castillón J, Pujol R, López-Sánchez M, Rodríguez-Santiago B, Aza-Carmona M,

González JR, Casado JA, Bueren JA, Sevilla J, Badel I, Català A, Beléndez C, Dasí MÁ, Díaz

de Heredia C, Soulier J, Schindler D, Pérez-Jurado LA, Surrallés J. Blood Adv. 2017 Jan

23;1(5):319-329. doi: 10.1182/bloodadvances.2016000943. eCollection 2017 Jan 24. Erratum

in: Blood Adv. 2017 Jul 31;1(18):1368. PubMed Central PMCID: PMC5744036.

PMID: 29296947


2. Influence of TFAP2B and KCTD15 genetic variability on personality dimensions in

anorexia and bulimia nervosa.

Gamero-Villarroel C, González LM, Rodríguez-López R, Albuquerque D, Carrillo JA, García-

Herráiz A, Flores I, Gervasini G. Brain Behav. 2017 Jul 27;7(9): e00784. doi:

10.1002/brb3.784. eCollection 2017

https://www.ncbi.nlm.nih.gov/pubmed/?term=Marinelli%20M%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Pappa%20I%5BAuthor%5D&cauthor=true&cauthor_uid=27568811


https://www.ncbi.nlm.nih.gov/pubmed/?term=Bonilla%20C%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Suarez%20A%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Tiesler%20CM%5BAuthor%5D&cauthor=true&cauthor_uid=27568811



https://www.ncbi.nlm.nih.gov/pubmed/?term=Zafarmand%20MH%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Alvarez-Pedrerol%20M%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Andersson%20S%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Bakermans-Kranenburg%20MJ%5BAuthor%5D&cauthor=true&cauthor_uid=27568811



https://www.ncbi.nlm.nih.gov/pubmed/?term=Evans%20DM%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Flexeder%20C%5BAuthor%5D&cauthor=true&cauthor_uid=27568811


https://www.ncbi.nlm.nih.gov/pubmed/?term=Gonzalez%20JR%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Guxens%20M%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Huss%20A%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=van%20IJzendoorn%20MH%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=van%20IJzendoorn%20MH%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Jaddoe%20VW%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Julvez%20J%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Lahti%20J%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=L%C3%B3pez-Vicente%20M%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Lopez-Espinosa%20MJ%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Manz%20J%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Mileva-Seitz%20VR%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Mileva-Seitz%20VR%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Perola%20M%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Pesonen%20AK%5BAuthor%5D&cauthor=true&cauthor_uid=27568811


https://www.ncbi.nlm.nih.gov/pubmed/?term=Salo%20PP%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Shahand%20S%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Schulz%20H%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Standl%20M%5BAuthor%5D&cauthor=true&cauthor_uid=27568811



https://www.ncbi.nlm.nih.gov/pubmed/?term=Timpson%20NJ%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Torrent%20M%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Uitterlinden%20AG%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Smith%20GD%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Estarlich%20M%5BAuthor%5D&cauthor=true&cauthor_uid=27568811


https://www.ncbi.nlm.nih.gov/pubmed/?term=R%C3%A4ikk%C3%B6nen%20K%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=R%C3%A4ikk%C3%B6nen%20K%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Vrijkotte%20TG%5BAuthor%5D&cauthor=true&cauthor_uid=27568811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Tiemeier%20H%5BAuthor%5D&cauthor=true&cauthor_uid=27568811




https://www.ncbi.nlm.nih.gov/pubmed/?term=S%C3%A1nchez-Gistau%20V%5BAuthor%5D&cauthor=true&cauthor_uid=27620326


https://www.ncbi.nlm.nih.gov/pubmed/?term=Sugranyes%20G%5BAuthor%5D&cauthor=true&cauthor_uid=27620326

https://www.ncbi.nlm.nih.gov/pubmed/?term=Rodr%C3%ADguez%20N%5BAuthor%5D&cauthor=true&cauthor_uid=27620326

https://www.ncbi.nlm.nih.gov/pubmed/?term=Boloc%20D%5BAuthor%5D&cauthor=true&cauthor_uid=27620326

https://www.ncbi.nlm.nih.gov/pubmed/?term=de%20la%20Serna%20E%5BAuthor%5D&cauthor=true&cauthor_uid=27620326

https://www.ncbi.nlm.nih.gov/pubmed/?term=de%20la%20Serna%20E%5BAuthor%5D&cauthor=true&cauthor_uid=27620326

https://www.ncbi.nlm.nih.gov/pubmed/?term=Romero%20S%5BAuthor%5D&cauthor=true&cauthor_uid=27620326

https://www.ncbi.nlm.nih.gov/pubmed/?term=Moreno%20D%5BAuthor%5D&cauthor=true&cauthor_uid=27620326

https://www.ncbi.nlm.nih.gov/pubmed/?term=Moreno%20C%5BAuthor%5D&cauthor=true&cauthor_uid=27620326

https://www.ncbi.nlm.nih.gov/pubmed/?term=D%C3%ADaz-Caneja%20CM%5BAuthor%5D&cauthor=true&cauthor_uid=27620326

https://www.ncbi.nlm.nih.gov/pubmed/?term=Lafuente%20A%5BAuthor%5D&cauthor=true&cauthor_uid=27620326

https://www.ncbi.nlm.nih.gov/pubmed/?term=Castro-Fornieles%20J%5BAuthor%5D&cauthor=true&cauthor_uid=27620326

https://www.ncbi.nlm.nih.gov/pubmed/?term=Association+of+CACNA1C+and+SYNE1+in+offspring+of+patients+with+psychiatric+disorders.

122

Sep. PubMed Central PMCID: PMC5607548.

PMID: 28948079


3. Risk Model for Prostate Cancer Using Environmental and Genetic Factors in the

Spanish Multi-Case-Control (MCC) Study.

Gómez-Acebo I, Dierssen-Sotos T, Fernandez-Navarro P, Palazuelos C, Moreno V, Aragonés

N, Castaño-Vinyals G, Jiménez-Monleón JJ, Ruiz-Cerdá JL, Pérez-Gómez B, Ruiz-Dominguez

JM, Molero JA, Pollán M, Kogevinas M, Llorca J. Sci Rep. 2017 Aug 21;7(1):8994.

doi:10.1038/s41598-017-09386-9. PubMed Central PMCID: PMC5566549.

PMID: 28827750


4. DNA methylation changes in human lung epithelia cells exposed to multi-walled

carbon nanotubes.

Sierra MI, Rubio L, BayÃ³n GF, Cobo I, Menendez P, Morales P, Mangas C, Urdinguio RG,

Lopez V, Valdes A, Vales G, Marcos R, Torrecillas R, Fernández AF, Fraga MF.

Nanotoxicology. 2017 Sep;11(7):857-870. doi: 10.1080/17435390.2017.1371350. Epub 2017

Sep 13. PubMed PMID: 28901819.

5. The RS4939827 polymorphism in the SMAD7 GENE and its association with

Mediterranean diet in colorectal carcinogenesis.

Alonso-Molero J, González-Donquiles C, Palazuelos C, Fernández-Villa T, Ramos E, Pollán M,

Aragonés N, Llorca J, Henar Alonso M, Tardón A, Amiano P, Moleon JJJ, Pérez RP, Capelo R,

Molina AJ, Acebo IG, Guevara M, Perez-Gomez B, Lope V, Huerta JM, Castaño-Vinyals G,

Kogevinas M, Moreno V, Martín V. BMC Med Genet. 2017 Oct 30;18(1):122.

doi:10.1186/s12881-017-0485-5. PubMed Central PMCID: PMC5661920.

PMID: 29084532


6. Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer-

Predisposing Mutations in Pheochromocytomas and Paragangliomas.

123

Remacha L, Comino-Méndez I, Richter S, Contreras L, Currás-Freixes M, Pita G, Letón R,

Galarreta A, Torres-Pérez R, Honrado E, Jiménez S, Maestre L, Moran S, Esteller M,

Satrústegui J, Eisenhofer G, Robledo M, Cascón A. Clin Cancer Res. 2017 Oct

15;23(20):6315-6324.

PMID:28720665 FACTOR DE IMPACTO: 8.738 CUARTIL: D1

PUBLICACIONES 2018

1. Reproductive risk factors in breast cancer and genetic hormonal pathways: a gene-environment interaction in the MCC-Spain project. Dierssen-Sotos T, Palazuelos-Calderón C, Jiménez-Moleón JJ, Aragonés N, Altzibar JM, Castaño-Vinyals G, Martín-Sanchez V, Gómez-Acebo I, Guevara M, Tardón A, Pérez-Gómez B, Amiano P, Moreno V, Molina AJ, Alonso-Molero J, Moreno-Iribas C, Kogevinas M, Pollán M, Llorca J. BMC Cancer. 2018 Mar 12;18(1):280. doi:10.1186/s12885-018-4182-3. PubMed Central PMCID: PMC5848450. PMID: 29530003 FACTOR DE IMPACTO: 3.288 CUARTIL: Q2

2. Reproductive risk factors in breast cancer and genetic hormonal pathways: a gene-environment interaction in the MCC-Spain project. Dierssen-Sotos T, Palazuelos-Calderón C, Jiménez-Moleón JJ, Aragonés N, Altzibar JM, Castaño-Vinyals G, Martín-Sanchez V, Gómez-Acebo I, Guevara M, Tardón A, Pérez-Gómez B, Amiano P, Moreno V, Molina AJ, Alonso-Molero J, Moreno-Iribas C, Kogevinas M, Pollán M, Llorca J. BMC Cancer. 2018 Mar 12;18(1):280. doi:10.1186/s12885-018-4182-3. PubMed Central PMCID: PMC5848450. PMID: 29530003 FACTOR DE IMPACTO: 3.288 CUARTIL: Q2 3. Epigenetic dysregulation of TET2 in human glioblastoma. García MG, Carella A, Urdinguio RG, Bayón GF, Lopez V, Tejedor JR, Sierra MI, García-

Toraño E, Santamarina P, Perez RF, Mangas C, Astudillo A, Corte-Torres MD, Sáenz-de-

Santa-María I, Chiara MD, Fernández AF, Fraga MF. Oncotarget. 2018 May 25;9(40):25922-

25934. doi: 10.18632/oncotarget.25406. eCollection 2018 May 25. PubMed Central PMCID:

PMC5995234.

PMID: 29899831

124


4. High-density linkage maps constructed in sweet cherry (Prunus avium L.) using cross-

and self-pollination populations reveal chromosomal homozygosity in inbred families

and non-syntenic regions with the peach genome

Calle, A., Cai, L., Iezzoni, A. et al. Tree Genetics & Genomes (May 2018) 14: 37. https://doi.org/10.1007/s11295-018-1252-2. Publisher NameSpringer Berlin Heidelberg.

NO ESTÁ EN PUBMED


5. Genome-wide association and HLA fine-mapping studies identify risk loci and genetic

pathways

underlying allergic rhinitis.

Waage J, Standl M, Curtin JA, Jessen LE, Thorsen J, Tian C, Schoettler N; 23andMe Research

Team; AAGC collaborators, Flores C, Abdellaoui A, Ahluwalia TS, Alves AC, Amaral AFS, Antó

JM, Arnold A, Barreto-Luis A, Baurecht H, van Beijsterveldt CEM, Bleecker ER, Bonàs-Guarch

S, Boomsma DI, Brix S, Bunyavanich S, Burchard EG, Chen Z, Curjuric I, Custovic A, den

Dekker HT, Dharmage SC, Dmitrieva J, Duijts L, Ege MJ, Gauderman WJ, Georges M, Gieger

C, Gilliland F, Granell R, Gui H, Hansen T, Heinrich J, Henderson J, Hernandez-Pacheco N,

Holt P, Imboden M, Jaddoe VWV, Jarvelin MR, Jarvis DL, Jensen KK, Jónsdóttir I, Kabesch M,

Kaprio J, Kumar A, Lee YA, Levin AM, Li X, Lorenzo-Diaz F, Melén E, Mercader JM, Meyers

DA, Myers R, Nicolae DL, Nohr EA, Palviainen T, Paternoster L, Pennell CE, Pershagen G,

Pino-Yanes M, Probst-Hensch NM, Rüschendorf F, Simpson A, Stefansson K, Sunyer J,

Sveinbjornsson G, Thiering E, Thompson PJ, Torrent M, Torrents D, Tung JY, Wang CA,

Weidinger S, Weiss S, Willemsen G, Williams LK, Ober C, Hinds DA, Ferreira MA, Bisgaard H,

Strachan DP, Bønnelykke K. Nat Genet. 2018 Jul 16. doi:10.1038/s41588-018-0157-1. [Epub

ahead of print]

PMID: 30013184


6. Epigenome-wide analysis reveals specific DNA hypermethylation of T cells during

human hematopoietic differentiation.

Tejedor JR, Bueno C, Cobo I, Bayón GF, Prieto C, Mangas C, Pérez RF, Santamarina P,

Urdinguio RG, Menéndez P, Fraga MF, Fernández AF. Epigenomics. 2018 Jul;10(7):903-923.

doi: 10.2217/epi-2017-0163. Epub 2018 Apr 5.

PMID: 29620943


https://doi.org/10.1007/s11295-018-1252-2

125

7. Loss of 5hmC identifies a new type of aberrant DNA hypermethylation in glioma.

Fernandez AF, Bayón GF, Sierra MI, Urdinguio RG, Toraño EG, García MG, Carella A, López

V, Santamarina P, Pérez RF, Belmonte T, Tejedor JR, Cobo I, Menendez P, Mangas C, Ferrero

C, Rodrigo L, Astudillo A, Ortea I, Cueto Díaz S, Rodríguez-Gonzalez P, García Alonso JI,

Mollejo M, Menéndez B, Domínguez G, Bonilla F, Fraga MF. Hum Mol Genet. 2018 Sep

1;27(17):3046-3059. doi: 10.1093/hmg/ddy214.

PMID: 29878202


8. Plasma and CSF biomarkers for the diagnosis of Alzheimer's disease in adults with Down syndrome: a cross-sectional study. Fortea J, Carmona-Iragui M, Benejam B, Fernández S, Videla L, Barroeta I, Alcolea D, Pegueroles J, Muñoz L, Belbin O, de Leon MJ, Maceski AM, Hirtz C, Clarimón J, Videla S, Delaby C, Lehmann S, Blesa R, Lleó A. Lancet Neurol. 2018 Oct;17(10):860-869. doi: 10.1016/S1474-4422(18)30285-0. Epub 2018 Aug 29. PMID: 30172624 FACTOR DE IMPACTO: 27.144 CUARTIL: D1

9.Identification and validation of seven new loci showing differential DNA

methylation relatedto serum lipid profile: an epigenome-wide approach. The REGICOR

study.

Sayols-Baixeras S, Subirana I, Lluis-Ganella C, Civeira F, Roquer J, Do AN, Absher D, Cenarro A, Muñoz D, Soriano-Tárraga C, Jiménez-Conde J, Ordovas JM, Senti M, Aslibekyan S, Marrugat J, Arnett DK, Elosua R. Hum Mol Genet. 2018 Dec 12. doi: 10.1093/hmg/ddy417. [Epub ahead of print] No abstract available.

PMID: 30541122


10. Gain-of-function mutations in DNMT3A in patients with paraganglioma.

Remacha L, Currás-Freixes M, Torres-Ruiz R, Schiavi F, Torres-Pérez R, Calsina B, Letón R,

Comino-Méndez I, Roldán-Romero JM, Montero-Conde C, Santos M, Pérez LI, Pita G, Alonso

MR, Honrado E, Pedrinaci S, Crespo-Facorro B, Percesepe A, Falcioni M, Rodríguez-Perales




126

S, Korpershoek E, Ramón-Maiques S, Opocher G, Rodríguez-Antona C, Robledo M, Cascón A.

Genet Med. 2018 Dec;20(12):1644-1651. DOI:10.1038/s41436-018-0003-y.

PMID:29740169


PUBLICACIONES DERIVADAS DE SERVICIOS PRESTADOS A USUARIOS EN EL CEGEN - PRB2 - ISCIII

NODO USC PUBLICACIONES 2014 1. Assessing the Validity of Asthma Associations for Eight Candidate Genes and Age at

Diagnosis Effects.

Pino-Yanes M, Corrales A, Cumplido J, Poza P, Sánchez-Machín I, Sánchez-Palacios

A, Figueroa J, Acosta-Fernández O, Buset N, García-Robaina JC, Hernández M, Villar

J, Carrillo T, Flores C. PLoS One. 2013 Sep 9;8(9):e73157. doi: 10.1371/journal.pone.0073157.

eCollection 2013.

PMID: 24039878


2. Simultaneous Purifying Selection on the Ancestral MC1R Allele and Positive Selection

on the Melanoma-Risk Allele V60L in South Europeans.

Martínez-Cadenas C, López S, Ribas G, Flores C, García O, Sevilla A, Smith-Zubiaga I, Ibarrola-Villaba M, Pino-Yanes Mdel M, Gardeazabal J, Boyano D, García de Galdeano A, Izagirre N, de la Rúa C, Alonso S. Mol Biol Evol. 2013 Dec;30(12):2654-65. doi: 10.1093/molbev/mst158. Epub 2013 Sep 17. PMID: 24045876


3. ACSM4 Polymorphisms Are Associated With Rapid AIDS. Progression in HIV-Infected

Patients.

Guzmán-Fulgencio M, Jiménez JL, Jiménez-Sousa MA, Bellón JM, García-Álvarez M, Soriano V, Gijón-Vidaurreta P, Bernal-Morell E, Viciana P, Muñoz-Fernández MÁ, Resino S. J Acquir Immune Defic Syndr. 2014 Jan 1;65(1):27-32. doi: 10.1097/QAI.0b013e3182a990e2. PMID: 23982661

https://doi.org/10.1038/s41436-018-0003-y

https://www.ncbi.nlm.nih.gov/pubmed/?term=Pino-Yanes%20M%5BAuthor%5D&cauthor=true&cauthor_uid=24039878

https://www.ncbi.nlm.nih.gov/pubmed/?term=Corrales%20A%5BAuthor%5D&cauthor=true&cauthor_uid=24039878

https://www.ncbi.nlm.nih.gov/pubmed/?term=Cumplido%20J%5BAuthor%5D&cauthor=true&cauthor_uid=24039878

https://www.ncbi.nlm.nih.gov/pubmed/?term=Poza%20P%5BAuthor%5D&cauthor=true&cauthor_uid=24039878

https://www.ncbi.nlm.nih.gov/pubmed/?term=S%C3%A1nchez-Mach%C3%ADn%20I%5BAuthor%5D&cauthor=true&cauthor_uid=24039878

https://www.ncbi.nlm.nih.gov/pubmed/?term=S%C3%A1nchez-Palacios%20A%5BAuthor%5D&cauthor=true&cauthor_uid=24039878

https://www.ncbi.nlm.nih.gov/pubmed/?term=S%C3%A1nchez-Palacios%20A%5BAuthor%5D&cauthor=true&cauthor_uid=24039878

https://www.ncbi.nlm.nih.gov/pubmed/?term=Figueroa%20J%5BAuthor%5D&cauthor=true&cauthor_uid=24039878

https://www.ncbi.nlm.nih.gov/pubmed/?term=Acosta-Fern%C3%A1ndez%20O%5BAuthor%5D&cauthor=true&cauthor_uid=24039878

https://www.ncbi.nlm.nih.gov/pubmed/?term=Buset%20N%5BAuthor%5D&cauthor=true&cauthor_uid=24039878

https://www.ncbi.nlm.nih.gov/pubmed/?term=Garc%C3%ADa-Robaina%20JC%5BAuthor%5D&cauthor=true&cauthor_uid=24039878

https://www.ncbi.nlm.nih.gov/pubmed/?term=Hern%C3%A1ndez%20M%5BAuthor%5D&cauthor=true&cauthor_uid=24039878

https://www.ncbi.nlm.nih.gov/pubmed/?term=Villar%20J%5BAuthor%5D&cauthor=true&cauthor_uid=24039878


https://www.ncbi.nlm.nih.gov/pubmed/?term=Carrillo%20T%5BAuthor%5D&cauthor=true&cauthor_uid=24039878


https://www.ncbi.nlm.nih.gov/pubmed/?term=Assessing+the+Validity+of+Asthma+Associations+for+Eight+Candidate+Genes+and+Age+at+Diagnosis+Effects.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Mart%C3%ADnez-Cadenas%20C%5BAuthor%5D&cauthor=true&cauthor_uid=24045876

https://www.ncbi.nlm.nih.gov/pubmed/?term=L%C3%B3pez%20S%5BAuthor%5D&cauthor=true&cauthor_uid=24045876

https://www.ncbi.nlm.nih.gov/pubmed/?term=Ribas%20G%5BAuthor%5D&cauthor=true&cauthor_uid=24045876


https://www.ncbi.nlm.nih.gov/pubmed/?term=Garc%C3%ADa%20O%5BAuthor%5D&cauthor=true&cauthor_uid=24045876

https://www.ncbi.nlm.nih.gov/pubmed/?term=Sevilla%20A%5BAuthor%5D&cauthor=true&cauthor_uid=24045876



https://www.ncbi.nlm.nih.gov/pubmed/?term=Ibarrola-Villaba%20M%5BAuthor%5D&cauthor=true&cauthor_uid=24045876

https://www.ncbi.nlm.nih.gov/pubmed/?term=Pino-Yanes%20Mdel%20M%5BAuthor%5D&cauthor=true&cauthor_uid=24045876

https://www.ncbi.nlm.nih.gov/pubmed/?term=Gardeazabal%20J%5BAuthor%5D&cauthor=true&cauthor_uid=24045876

https://www.ncbi.nlm.nih.gov/pubmed/?term=Boyano%20D%5BAuthor%5D&cauthor=true&cauthor_uid=24045876

https://www.ncbi.nlm.nih.gov/pubmed/?term=Garc%C3%ADa%20de%20Galdeano%20A%5BAuthor%5D&cauthor=true&cauthor_uid=24045876

https://www.ncbi.nlm.nih.gov/pubmed/?term=Garc%C3%ADa%20de%20Galdeano%20A%5BAuthor%5D&cauthor=true&cauthor_uid=24045876

https://www.ncbi.nlm.nih.gov/pubmed/?term=Izagirre%20N%5BAuthor%5D&cauthor=true&cauthor_uid=24045876

https://www.ncbi.nlm.nih.gov/pubmed/?term=de%20la%20R%C3%BAa%20C%5BAuthor%5D&cauthor=true&cauthor_uid=24045876

https://www.ncbi.nlm.nih.gov/pubmed/?term=Alonso%20S%5BAuthor%5D&cauthor=true&cauthor_uid=24045876

https://www.ncbi.nlm.nih.gov/pubmed/?term=Simultaneous+Purifying+Selection+on+the+Ancestral+MC1R+Allele+and+Positive+Selection+on+the+Melanoma-Risk+Allele+V60L+in+South+Europeans

https://www.ncbi.nlm.nih.gov/pubmed/?term=Guzm%C3%A1n-Fulgencio%20M%5BAuthor%5D&cauthor=true&cauthor_uid=23982661

https://www.ncbi.nlm.nih.gov/pubmed/?term=Jim%C3%A9nez%20JL%5BAuthor%5D&cauthor=true&cauthor_uid=23982661

https://www.ncbi.nlm.nih.gov/pubmed/?term=Jim%C3%A9nez-Sousa%20MA%5BAuthor%5D&cauthor=true&cauthor_uid=23982661

https://www.ncbi.nlm.nih.gov/pubmed/?term=Bell%C3%B3n%20JM%5BAuthor%5D&cauthor=true&cauthor_uid=23982661

https://www.ncbi.nlm.nih.gov/pubmed/?term=Garc%C3%ADa-%C3%81lvarez%20M%5BAuthor%5D&cauthor=true&cauthor_uid=23982661

https://www.ncbi.nlm.nih.gov/pubmed/?term=Soriano%20V%5BAuthor%5D&cauthor=true&cauthor_uid=23982661


https://www.ncbi.nlm.nih.gov/pubmed/?term=Gij%C3%B3n-Vidaurreta%20P%5BAuthor%5D&cauthor=true&cauthor_uid=23982661

https://www.ncbi.nlm.nih.gov/pubmed/?term=Bernal-Morell%20E%5BAuthor%5D&cauthor=true&cauthor_uid=23982661

https://www.ncbi.nlm.nih.gov/pubmed/?term=Viciana%20P%5BAuthor%5D&cauthor=true&cauthor_uid=23982661

https://www.ncbi.nlm.nih.gov/pubmed/?term=Mu%C3%B1oz-Fern%C3%A1ndez%20M%C3%81%5BAuthor%5D&cauthor=true&cauthor_uid=23982661

https://www.ncbi.nlm.nih.gov/pubmed/?term=Resino%20S%5BAuthor%5D&cauthor=true&cauthor_uid=23982661

https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSM4+Polymorphisms+Are+Associated+With+Rapid+AIDS.+Progression+in+HIV-Infected+Patients.

https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSM4+Polymorphisms+Are+Associated+With+Rapid+AIDS.+Progression+in+HIV-Infected+Patients.

127


4. Prognostic factors in pediatric sepsis study, from the Spanish Society of Pediatric

Intensive Care.

Vila Pérez D, Jordan I, Esteban E, García-Soler P, Murga V, Bonil V, Ortiz I, Flores C, Bustinza A, Cambra FJ. Pediatr Infect Dis J. 2014 Feb;33(2):152-7. doi: 10.1097/01.inf.0000435502.36996.72.

PMID:24413407


5. IL28RA polymorphism (rs10903035) is associated with insulin resistance in HIV/HCV-

coinfected patients.

Jiménez-Sousa MA, Berenguer J, Fernández-Rodríguez A, Micheloud D, Guzmán-Fulgencio M, Miralles P, Pineda-Tenor D, García-Álvarez M, López JC, Aldámiz-Echevarria T, Carrero A, Resino S. J Viral Hepat. 2014 Mar;21(3):189-97. doi: 10.1111/jvh.12130. Epub 2013 Jul 17. PMID:24438680


6. Variants of CEP68 gene are associated with acute urticaria/angioedema induced by multiple non-steroidal anti-inflammatory drugs. Cornejo-García JA, Flores C, Plaza-Serón MC, Acosta-Herrera M, Blanca-López N, Doña I, Torres MJ, Mayorga C, Guéant-Rodríguez RM, Ayuso P, Fernández J, Laguna JJ, Agúndez JA, García-Martín E, Guéant JL, Canto G, Blanca M. PLoS One. 2014 Mar 11;9(3):e90966. doi: 10.1371/journal.pone.0090966. eCollection 2014. PMID: 24618698


7. Association of adiponectin (ADIPOQ) rs2241766 polymorphism and dyslipidemia in HIV/HCV-coinfected patients. Pineda-Tenor D, Berenguer J, García-Broncano P, Jiménez-Sousa MA, Fernández-Rodríguez

A, Diez C, García-Álvarez M, Carrero A, Catalán P, Aldámiz-Echevarria T, Resino S. Eur J Clin

Invest. 2014 May;44(5):453-62. doi: 10.1111/eci.12250. Epub 2014 Mar 7.



https://www.ncbi.nlm.nih.gov/pubmed/?term=Vila%20P%C3%A9rez%20D%5BAuthor%5D&cauthor=true&cauthor_uid=24413407

https://www.ncbi.nlm.nih.gov/pubmed/?term=Jordan%20I%5BAuthor%5D&cauthor=true&cauthor_uid=24413407

https://www.ncbi.nlm.nih.gov/pubmed/?term=Esteban%20E%5BAuthor%5D&cauthor=true&cauthor_uid=24413407

https://www.ncbi.nlm.nih.gov/pubmed/?term=Garc%C3%ADa-Soler%20P%5BAuthor%5D&cauthor=true&cauthor_uid=24413407

https://www.ncbi.nlm.nih.gov/pubmed/?term=Murga%20V%5BAuthor%5D&cauthor=true&cauthor_uid=24413407

https://www.ncbi.nlm.nih.gov/pubmed/?term=Bonil%20V%5BAuthor%5D&cauthor=true&cauthor_uid=24413407

https://www.ncbi.nlm.nih.gov/pubmed/?term=Ortiz%20I%5BAuthor%5D&cauthor=true&cauthor_uid=24413407


https://www.ncbi.nlm.nih.gov/pubmed/?term=Bustinza%20A%5BAuthor%5D&cauthor=true&cauthor_uid=24413407

https://www.ncbi.nlm.nih.gov/pubmed/?term=Bustinza%20A%5BAuthor%5D&cauthor=true&cauthor_uid=24413407

https://www.ncbi.nlm.nih.gov/pubmed/?term=Cambra%20FJ%5BAuthor%5D&cauthor=true&cauthor_uid=24413407



https://www.ncbi.nlm.nih.gov/pubmed/?term=Berenguer%20J%5BAuthor%5D&cauthor=true&cauthor_uid=24438680

https://www.ncbi.nlm.nih.gov/pubmed/?term=Fern%C3%A1ndez-Rodr%C3%ADguez%20A%5BAuthor%5D&cauthor=true&cauthor_uid=24438680

https://www.ncbi.nlm.nih.gov/pubmed/?term=Micheloud%20D%5BAuthor%5D&cauthor=true&cauthor_uid=24438680



https://www.ncbi.nlm.nih.gov/pubmed/?term=Miralles%20P%5BAuthor%5D&cauthor=true&cauthor_uid=24438680

https://www.ncbi.nlm.nih.gov/pubmed/?term=Pineda-Tenor%20D%5BAuthor%5D&cauthor=true&cauthor_uid=24438680


https://www.ncbi.nlm.nih.gov/pubmed/?term=L%C3%B3pez%20JC%5BAuthor%5D&cauthor=true&cauthor_uid=24438680

https://www.ncbi.nlm.nih.gov/pubmed/?term=Ald%C3%A1miz-Echevarria%20T%5BAuthor%5D&cauthor=true&cauthor_uid=24438680

https://www.ncbi.nlm.nih.gov/pubmed/?term=Carrero%20A%5BAuthor%5D&cauthor=true&cauthor_uid=24438680



https://www.ncbi.nlm.nih.gov/pubmed/?term=IL28RA+polymorphism+(rs10903035)+is+associated+with+insulin+resistance+in+HIV%2FHCV-coinfected+patients.



https://www.ncbi.nlm.nih.gov/pubmed/?term=Cornejo-Garc%C3%ADa%20JA%5BAuthor%5D&cauthor=true&cauthor_uid=24618698


https://www.ncbi.nlm.nih.gov/pubmed/?term=Plaza-Ser%C3%B3n%20MC%5BAuthor%5D&cauthor=true&cauthor_uid=24618698


https://www.ncbi.nlm.nih.gov/pubmed/?term=Blanca-L%C3%B3pez%20N%5BAuthor%5D&cauthor=true&cauthor_uid=24618698

https://www.ncbi.nlm.nih.gov/pubmed/?term=Do%C3%B1a%20I%5BAuthor%5D&cauthor=true&cauthor_uid=24618698

https://www.ncbi.nlm.nih.gov/pubmed/?term=Do%C3%B1a%20I%5BAuthor%5D&cauthor=true&cauthor_uid=24618698

https://www.ncbi.nlm.nih.gov/pubmed/?term=Torres%20MJ%5BAuthor%5D&cauthor=true&cauthor_uid=24618698

https://www.ncbi.nlm.nih.gov/pubmed/?term=Mayorga%20C%5BAuthor%5D&cauthor=true&cauthor_uid=24618698

https://www.ncbi.nlm.nih.gov/pubmed/?term=Gu%C3%A9ant-Rodr%C3%ADguez%20RM%5BAuthor%5D&cauthor=true&cauthor_uid=24618698

https://www.ncbi.nlm.nih.gov/pubmed/?term=Ayuso%20P%5BAuthor%5D&cauthor=true&cauthor_uid=24618698

https://www.ncbi.nlm.nih.gov/pubmed/?term=Fern%C3%A1ndez%20J%5BAuthor%5D&cauthor=true&cauthor_uid=24618698

https://www.ncbi.nlm.nih.gov/pubmed/?term=Laguna%20JJ%5BAuthor%5D&cauthor=true&cauthor_uid=24618698

https://www.ncbi.nlm.nih.gov/pubmed/?term=Ag%C3%BAndez%20JA%5BAuthor%5D&cauthor=true&cauthor_uid=24618698

https://www.ncbi.nlm.nih.gov/pubmed/?term=Ag%C3%BAndez%20JA%5BAuthor%5D&cauthor=true&cauthor_uid=24618698

https://www.ncbi.nlm.nih.gov/pubmed/?term=Garc%C3%ADa-Mart%C3%ADn%20E%5BAuthor%5D&cauthor=true&cauthor_uid=24618698

https://www.ncbi.nlm.nih.gov/pubmed/?term=Gu%C3%A9ant%20JL%5BAuthor%5D&cauthor=true&cauthor_uid=24618698

https://www.ncbi.nlm.nih.gov/pubmed/?term=Canto%20G%5BAuthor%5D&cauthor=true&cauthor_uid=24618698

https://www.ncbi.nlm.nih.gov/pubmed/?term=Blanca%20M%5BAuthor%5D&cauthor=true&cauthor_uid=24618698

https://www.ncbi.nlm.nih.gov/pubmed/?term=Variants+of+CEP68+gene+are+associated+with+acute+urticaria%2Fangioedema+induced+by+multiple+non-steroidal+anti-inflammatory+drugs.



https://www.ncbi.nlm.nih.gov/pubmed/?term=Garc%C3%ADa-Broncano%20P%5BAuthor%5D&cauthor=true&cauthor_uid=24528335




https://www.ncbi.nlm.nih.gov/pubmed/?term=Diez%20C%5BAuthor%5D&cauthor=true&cauthor_uid=24528335



https://www.ncbi.nlm.nih.gov/pubmed/?term=Catal%C3%A1n%20P%5BAuthor%5D&cauthor=true&cauthor_uid=24528335



https://www.ncbi.nlm.nih.gov/pubmed/?term=Association+of+adiponectin+(ADIPOQ)+rs2241766+polymorphism+and+dyslipidemia+in+HIV%2FHCV-coinfected+patients.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Association+of+adiponectin+(ADIPOQ)+rs2241766+polymorphism+and+dyslipidemia+in+HIV%2FHCV-coinfected+patients.

128

PMID: 24528335

FACTOR DE IMPACTO: 2.687 CUARTIL: Q1 8. GADD45a promoter regulation by a functional genetic variant associated with acute lung injury. Mitra S, Wade MS, Sun X, Moldobaeva N, Flores C, Ma SF, Zhang W, Garcia JG, Jacobson JR. PLoS One. 2014 Jun 18;9(6):e100169. doi: 10.1371/journal.pone.0100169. eCollection 2014. PMID:24940746

FACTOR DE IMPACTO: 3.057 CUARTIL: Q1 9. SLC30A8 rs 3266634 polymorphism is related to a favorable cardiometabolic lipid profile in HIV/hepatitis C virus-coinfected patients. Pineda-Tenor D, Micheloud D, Berenguer J, Jiménez-Sousa MA, Fernández-Rodríguez

A, García-Broncano P, Guzmán-Fulgencio M, Diez C, Bellón JM, Carrero A, Aldámiz-Echevarria

T, García-Álvarez M, Resino S. AIDS. 2014 Jun 1;28(9):1325-32. doi:

10.1097/QAD.0000000000000215.

PMID:24499956


10. European mitochondrial haplogroups are not associated with hepatitis C virus (HCV)

treatment response in HIV/HCV-coinfected patients.

Guzmán-Fulgencio M, Rallón N, Berenguer J, Fernández-Rodríguez A, Soriano V, Miralles

P, Jiménez-Sousa MA, Restrepo C, López JC, García-Álvarez M, Aldámiz T, Benito JM, Resino

S. HIV Med. 2014 Aug;15(7):425-30. doi: 10.1111/hiv.12126. Epub 2014 Feb 24.

PMID: 24580757

FACTOR DE IMPACTO: 3.341 CUARTIL: Q2 11. Genetic Susceptibility, Residential Radon, and Lung Cancer in a Radon Prone Area. Ruano-Ravina A, Pereyra MF, Castro MT, Pérez-Ríos M, Abal-Arca J, Barros-Dios JM. J Thorac Oncol. 2014 Aug;9(8):1073-80. doi: 10.1097/JTO.0000000000000205. PMID: 24852519




https://www.ncbi.nlm.nih.gov/pubmed/?term=Mitra%20S%5BAuthor%5D&cauthor=true&cauthor_uid=24940746

https://www.ncbi.nlm.nih.gov/pubmed/?term=Wade%20MS%5BAuthor%5D&cauthor=true&cauthor_uid=24940746

https://www.ncbi.nlm.nih.gov/pubmed/?term=Sun%20X%5BAuthor%5D&cauthor=true&cauthor_uid=24940746

https://www.ncbi.nlm.nih.gov/pubmed/?term=Moldobaeva%20N%5BAuthor%5D&cauthor=true&cauthor_uid=24940746


https://www.ncbi.nlm.nih.gov/pubmed/?term=Ma%20SF%5BAuthor%5D&cauthor=true&cauthor_uid=24940746

https://www.ncbi.nlm.nih.gov/pubmed/?term=Zhang%20W%5BAuthor%5D&cauthor=true&cauthor_uid=24940746

https://www.ncbi.nlm.nih.gov/pubmed/?term=Garcia%20JG%5BAuthor%5D&cauthor=true&cauthor_uid=24940746

https://www.ncbi.nlm.nih.gov/pubmed/?term=Jacobson%20JR%5BAuthor%5D&cauthor=true&cauthor_uid=24940746

https://www.ncbi.nlm.nih.gov/pubmed/?term=GADD45a+promoter+regulation+by+a+functional+genetic+variant+associated+with+acute+lung+injury.
















https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC30A8+rs+3266634+polymorphism+is+related+to+a+favorable+cardiometabolic+lipid+profile+in+HIV%2Fhepatitis+C+virus-coinfected+patients.


https://www.ncbi.nlm.nih.gov/pubmed/?term=Rall%C3%B3n%20N%5BAuthor%5D&cauthor=true&cauthor_uid=24580757







https://www.ncbi.nlm.nih.gov/pubmed/?term=Restrepo%20C%5BAuthor%5D&cauthor=true&cauthor_uid=24580757



https://www.ncbi.nlm.nih.gov/pubmed/?term=Ald%C3%A1miz%20T%5BAuthor%5D&cauthor=true&cauthor_uid=24580757

https://www.ncbi.nlm.nih.gov/pubmed/?term=Benito%20JM%5BAuthor%5D&cauthor=true&cauthor_uid=24580757



https://www.ncbi.nlm.nih.gov/pubmed/?term=European+mitochondrial+haplogroups+are+not+associated+with+hepatitis+C+virus+(HCV)+treatment+response+in+HIV%2FHCV-coinfected+patients.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Ruano-Ravina%20A%5BAuthor%5D&cauthor=true&cauthor_uid=24852519

https://www.ncbi.nlm.nih.gov/pubmed/?term=Pereyra%20MF%5BAuthor%5D&cauthor=true&cauthor_uid=24852519

https://www.ncbi.nlm.nih.gov/pubmed/?term=Castro%20MT%5BAuthor%5D&cauthor=true&cauthor_uid=24852519

https://www.ncbi.nlm.nih.gov/pubmed/?term=P%C3%A9rez-R%C3%ADos%20M%5BAuthor%5D&cauthor=true&cauthor_uid=24852519

https://www.ncbi.nlm.nih.gov/pubmed/?term=Abal-Arca%20J%5BAuthor%5D&cauthor=true&cauthor_uid=24852519

https://www.ncbi.nlm.nih.gov/pubmed/?term=Barros-Dios%20JM%5BAuthor%5D&cauthor=true&cauthor_uid=24852519

https://www.ncbi.nlm.nih.gov/pubmed/?term=Genetic+Susceptibility%2C+Residential+Radon%2C+and+Lung+Cancer+in+a+Radon+Prone+Area.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Genetic+Susceptibility%2C+Residential+Radon%2C+and+Lung+Cancer+in+a+Radon+Prone+Area.

129

CUARTIL: Q1 12. Relationship between European Mitochondrial Haplogroups and Chronic Renal

Allograft Rejection in Patients with Kidney Transplant.

Jiménez-Sousa MA, Tamayo E, Guzmán-Fulgencio M, Fernández-Rodríguez A, Heredia-

Rodriguez M, García-Álvarez M, Bermejo-Martin JF, Pineda-Tenor D, Ruiz-Granado P, Alvarez-

Fuente E, Gómez-Sanchez E, Gómez-Herreras JI, Resino S. Int J Med Sci. 2014 Aug

17;11(11):1129-32. doi: 10.7150/ijms.9487. eCollection 2014.

PMID: 25170295

FACTOR DE IMPACTO: 2.232 CUARTIL: Q1 13. Mitochondrial DNA (mtDNA) Variants in the European Haplogroups HV, JT, and U do not Have a Major Role in Schizophrenia. Torrell H, Salas A, Abasolo N, Morén C, Garrabou G, Valero J, Alonso Y, Vilella E, Costas J, Martorell L. Am J Med Genet B Neuropsychiatr Genet. 2014 Oct;165B(7):607-17. doi: 10.1002/ajmg.b.32264. Epub 2014 Aug 17. PMID:25132006

FACTOR DE IMPACTO: 3.391 CUARTIL: Q2 14. Replication of previous genome-wide association studies of psychiatric diseases in a large schizophrenia case–control sample from Spain. Ivorra JL, Rivero O, Costas J, Iniesta R, Arrojo M, Ramos-Ríos R, Carracedo A, Palomo T, Rodriguez-Jimenez R, Cervilla J, Gutiérrez B, Molina E, Arango C, Alvarez M, Pascual JC, Pérez V, Saiz PA, García-Portilla MP, Bobes J, González-Pinto A, Zorrilla I, Haro JM, Bernardo M, Baca-García E, González JC, Hoenicka J, Moltó MD, Sanjuán J. Schizophr Res. 2014 Oct;159(1):107-13. doi: 10.1016/j.schres.2014.07.004. Epub 2014 Aug 12. PMID: 25124521


15. PPAR2 Pro12Ala Polymorphism Is Associated With Sustained Virological Response

in HIV/HCV-Coinfected Patients Under HCV Therapy.

Fernández-Rodríguez A, Berenguer J, Rallón N, Jiménez-Sousa MA, López JC, Soriano

V, García-Álvarez M, Cosín J, Martínez P, Guzmán-Fulgencio M, Miralles P, Miguel Benito

J, Resino S. J Acquir Immune Defic Syndr. 2014 Oct 1;67(2):113-9. doi:

10.1097/QAI.0000000000000282.

PMID: 25072612


https://www.ncbi.nlm.nih.gov/pubmed/?term=Tamayo%20E%5BAuthor%5D&cauthor=true&cauthor_uid=25170295



https://www.ncbi.nlm.nih.gov/pubmed/?term=Heredia-Rodriguez%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25170295

https://www.ncbi.nlm.nih.gov/pubmed/?term=Heredia-Rodriguez%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25170295


https://www.ncbi.nlm.nih.gov/pubmed/?term=Bermejo-Martin%20JF%5BAuthor%5D&cauthor=true&cauthor_uid=25170295


https://www.ncbi.nlm.nih.gov/pubmed/?term=Ruiz-Granado%20P%5BAuthor%5D&cauthor=true&cauthor_uid=25170295

https://www.ncbi.nlm.nih.gov/pubmed/?term=Alvarez-Fuente%20E%5BAuthor%5D&cauthor=true&cauthor_uid=25170295

https://www.ncbi.nlm.nih.gov/pubmed/?term=Alvarez-Fuente%20E%5BAuthor%5D&cauthor=true&cauthor_uid=25170295

https://www.ncbi.nlm.nih.gov/pubmed/?term=G%C3%B3mez-Sanchez%20E%5BAuthor%5D&cauthor=true&cauthor_uid=25170295

https://www.ncbi.nlm.nih.gov/pubmed/?term=G%C3%B3mez-Herreras%20JI%5BAuthor%5D&cauthor=true&cauthor_uid=25170295


https://www.ncbi.nlm.nih.gov/pubmed/?term=Relationship+between+European+Mitochondrial+Haplogroups+and+Chronic+Renal+Allograft+Rejection+in+Patients+with+Kidney+Transplant

https://www.ncbi.nlm.nih.gov/pubmed/?term=Torrell%20H%5BAuthor%5D&cauthor=true&cauthor_uid=25132006

https://www.ncbi.nlm.nih.gov/pubmed/?term=Salas%20A%5BAuthor%5D&cauthor=true&cauthor_uid=25132006

https://www.ncbi.nlm.nih.gov/pubmed/?term=Abasolo%20N%5BAuthor%5D&cauthor=true&cauthor_uid=25132006

https://www.ncbi.nlm.nih.gov/pubmed/?term=Mor%C3%A9n%20C%5BAuthor%5D&cauthor=true&cauthor_uid=25132006

https://www.ncbi.nlm.nih.gov/pubmed/?term=Garrabou%20G%5BAuthor%5D&cauthor=true&cauthor_uid=25132006

https://www.ncbi.nlm.nih.gov/pubmed/?term=Valero%20J%5BAuthor%5D&cauthor=true&cauthor_uid=25132006

https://www.ncbi.nlm.nih.gov/pubmed/?term=Alonso%20Y%5BAuthor%5D&cauthor=true&cauthor_uid=25132006

https://www.ncbi.nlm.nih.gov/pubmed/?term=Vilella%20E%5BAuthor%5D&cauthor=true&cauthor_uid=25132006

https://www.ncbi.nlm.nih.gov/pubmed/?term=Costas%20J%5BAuthor%5D&cauthor=true&cauthor_uid=25132006


https://www.ncbi.nlm.nih.gov/pubmed/?term=Martorell%20L%5BAuthor%5D&cauthor=true&cauthor_uid=25132006

https://www.ncbi.nlm.nih.gov/pubmed/?term=Mitochondrial+DNA+(mtDNA)+Variants+in+the+European+Haplogroups+HV%2C+JT%2C+and+U+do+not+Have+a+Major+Role+in+Schizophrenia.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Ivorra%20JL%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Rivero%20O%5BAuthor%5D&cauthor=true&cauthor_uid=25124521


https://www.ncbi.nlm.nih.gov/pubmed/?term=Iniesta%20R%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Arrojo%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Ramos-R%C3%ADos%20R%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Carracedo%20A%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Palomo%20T%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Palomo%20T%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Rodriguez-Jimenez%20R%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Cervilla%20J%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Guti%C3%A9rrez%20B%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Molina%20E%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Arango%20C%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Alvarez%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Pascual%20JC%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Pascual%20JC%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=P%C3%A9rez%20V%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Saiz%20PA%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Garc%C3%ADa-Portilla%20MP%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Bobes%20J%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Gonz%C3%A1lez-Pinto%20A%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Zorrilla%20I%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Haro%20JM%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Haro%20JM%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Bernardo%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Baca-Garc%C3%ADa%20E%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Gonz%C3%A1lez%20JC%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Hoenicka%20J%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Molt%C3%B3%20MD%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Sanju%C3%A1n%20J%5BAuthor%5D&cauthor=true&cauthor_uid=25124521

https://www.ncbi.nlm.nih.gov/pubmed/?term=Replication+of+previous+genome-wide+association+studies+of+psychiatric+diseases+in+a+large+schizophrenia+case%E2%80%93control+sample+from+Spain.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Replication+of+previous+genome-wide+association+studies+of+psychiatric+diseases+in+a+large+schizophrenia+case%E2%80%93control+sample+from+Spain.









https://www.ncbi.nlm.nih.gov/pubmed/?term=Cos%C3%ADn%20J%5BAuthor%5D&cauthor=true&cauthor_uid=25072612

https://www.ncbi.nlm.nih.gov/pubmed/?term=Mart%C3%ADnez%20P%5BAuthor%5D&cauthor=true&cauthor_uid=25072612



https://www.ncbi.nlm.nih.gov/pubmed/?term=Miguel%20Benito%20J%5BAuthor%5D&cauthor=true&cauthor_uid=25072612

https://www.ncbi.nlm.nih.gov/pubmed/?term=Miguel%20Benito%20J%5BAuthor%5D&cauthor=true&cauthor_uid=25072612


https://www.ncbi.nlm.nih.gov/pubmed/?term=PPAR2+Pro12Ala+Polymorphism+Is+Associated+With+Sustained+Virological+Response+in+HIV%2FHCV-Coinfected+Patients+Under+HCV+Therapy

130


16. CXCL9, CXCL10 and CXCL11 polymorphisms are associated withsustained virologic response in HIV/HCV-coinfected patients. Pineda-Tenor D, Berenguer J, Jiménez-Sousa MA, Guzmán-Fulgencio M, Aldámiz-Echevarria T, Carrero A, García-Álvarez M, Diez C, Tejerina F, Briz V, Resino S. J Clin Virol. 2014 Nov;61(3):423-9. doi: 10.1016/j.jcv.2014.08.020. Epub 2014 Sep 1. PMID: 25218243

FACTOR DE IMPACTO: 2.647 CUARTIL: Q2 17. FTO rs9939609 polymorphism is associated with metabolic disturbances and response to HCV therapy in HIV/HCV-coinfected patients. Pineda-Tenor D, Berenguer J, Jiménez-Sousa MA, García-Alvarez M, Aldámiz-Echevarria T, Carrero A, Vázquez-Morón S, García-Broncano P, Diez C, Tejerina F, Guzmán-Fulgencio M, Resino S. BMC Med. 2014 Nov 3; 12:198. doi: 10.1186/s12916-014-0198-y. PMID:25367448


PUBLICACIONES 2015

1. Activation of DREAM (downstream regulatory element antagonistic modulator), a calcium-binding protein, reduces L-DOPA-induced dyskinesias in mice. Ruiz-DeDiego I, Mellstrom B, Vallejo M, Naranjo JR, Moratalla R. Biol Psychiatry. 2015 Jan 15;77(2):95-105. doi: 10.1016/j.biopsych.2014.03.023. Epub 2014 Mar 27. PMID: 24857398


2. Mitochondrial DNA haplogroups are associated with severe sepsis and mortality in

patients who underwent major surgery.

Jiménez-Sousa MA, Tamayo E, Guzmán-Fulgencio M, Heredia M, Fernández-Rodríguez

A, Gómez E, Almansa R, Gómez-Herreras JI, García-Álvarez M, Gutiérrez-Junco S, Bermejo-

Martin JF, Resino S; Spanish Sepsis Group (SpSG). J Infect. 2015 Jan;70(1):20-9. doi:

10.1016/j.jinf.2014.07.005. Epub 2014 Jul 17.










https://www.ncbi.nlm.nih.gov/pubmed/?term=Tejerina%20F%5BAuthor%5D&cauthor=true&cauthor_uid=25218243

https://www.ncbi.nlm.nih.gov/pubmed/?term=Briz%20V%5BAuthor%5D&cauthor=true&cauthor_uid=25218243


https://www.ncbi.nlm.nih.gov/pubmed/?term=CXCL9%2C+CXCL10+and+CXCL11+polymorphisms+are+associated+withsustained+virologic+response+in+HIV%2FHCV-coinfected+patients

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4224698/pdf/12916_2014_Article_198.pdf

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4224698/pdf/12916_2014_Article_198.pdf




https://www.ncbi.nlm.nih.gov/pubmed/?term=Garc%C3%ADa-Alvarez%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25367448




https://www.ncbi.nlm.nih.gov/pubmed/?term=V%C3%A1zquez-Mor%C3%B3n%20S%5BAuthor%5D&cauthor=true&cauthor_uid=25367448







https://www.ncbi.nlm.nih.gov/pubmed/?term=FTO+rs9939609+polymorphism+is+associated+with+metabolic+disturbances+and+response+to+HCV+therapy+in+HIV%2FHCV-coinfected+patients.



https://www.ncbi.nlm.nih.gov/pubmed/?term=Ruiz-DeDiego%20I%5BAuthor%5D&cauthor=true&cauthor_uid=24857398

https://www.ncbi.nlm.nih.gov/pubmed/?term=Mellstrom%20B%5BAuthor%5D&cauthor=true&cauthor_uid=24857398

https://www.ncbi.nlm.nih.gov/pubmed/?term=Vallejo%20M%5BAuthor%5D&cauthor=true&cauthor_uid=24857398

https://www.ncbi.nlm.nih.gov/pubmed/?term=Naranjo%20JR%5BAuthor%5D&cauthor=true&cauthor_uid=24857398

https://www.ncbi.nlm.nih.gov/pubmed/?term=Moratalla%20R%5BAuthor%5D&cauthor=true&cauthor_uid=24857398

https://www.ncbi.nlm.nih.gov/pubmed/?term=Activation+of+DREAM+(downstream+regulatory+element+antagonistic+modulator)%2C+a+calcium-binding+protein%2C+reduces+L-DOPA-induced+dyskinesias+in+mice.


https://www.ncbi.nlm.nih.gov/pubmed/?term=Tamayo%20E%5BAuthor%5D&cauthor=true&cauthor_uid=25043396


https://www.ncbi.nlm.nih.gov/pubmed/?term=Heredia%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25043396



https://www.ncbi.nlm.nih.gov/pubmed/?term=G%C3%B3mez%20E%5BAuthor%5D&cauthor=true&cauthor_uid=25043396

https://www.ncbi.nlm.nih.gov/pubmed/?term=Almansa%20R%5BAuthor%5D&cauthor=true&cauthor_uid=25043396

https://www.ncbi.nlm.nih.gov/pubmed/?term=G%C3%B3mez-Herreras%20JI%5BAuthor%5D&cauthor=true&cauthor_uid=25043396


https://www.ncbi.nlm.nih.gov/pubmed/?term=Guti%C3%A9rrez-Junco%20S%5BAuthor%5D&cauthor=true&cauthor_uid=25043396




https://www.ncbi.nlm.nih.gov/pubmed/?term=Spanish%20Sepsis%20Group%20(SpSG)%5BCorporate%20Author%5D

https://www.ncbi.nlm.nih.gov/pubmed/?term=Mitochondrial+DNA+haplogroups+are+associated+with+severe+sepsis+and+mortality+in+patients+who+underwent+major+surgery.

131

PMID: 25043396

FACTOR DE IMPACTO: 2.229 CUARTIL: Q3 3. Host genetics shapes adult sepsis survival. Flores C. Lancet Respir Med. 2015 Jan;3(1):7-8. doi: 10.1016/S2213-2600(14)70307-8. Epub

2014 Dec 18.

PMID: 25533492


4. Association between IL7RA polymorphisms and the successful therapy against HCV in

HIV/HCV-coinfected patients.

Guzmán-Fulgencio M, Berenguer J, Pineda-Tenor D, Jiménez-Sousa MA, García-Álvarez

M, Aldámiz-Echevarria T, Carrero A, Diez C, Tejerina F, Vázquez S, Briz V, Resino S. Eur J

Clin Microbiol Infect Dis. 2015 Feb;34(2):385-93. doi: 10.1007/s10096-014-2245-1. Epub

2014 Sep 19.

PMID: 25236396


5. rs7903146 Polymorphism at Transcription Factor 7 Like 2 Gene Is Associated with

Total Cholesterol and Lipoprotein Profile in HIV/Hepatitis C Virus-Coinfected Patients.

Pineda-Tenor D, Berenguer J, Jiménez-Sousa MA, Carrero A, García-Álvarez M, Aldámiz-

Echevarria T, García-Broncano P, Diez C, Guzmán-Fulgencio M, Fernández-Rodríguez

A, Resino S. AIDS Res Hum Retroviruses. 2015 Mar;31(3):326-34. doi:

10.1089/aid.2014.0195. Epub 2014 Oct 29.

PMID:25353718


6. A Genome Wide Association Study Links Glutamate Receptor Pathway to Sporadic

Creutzfeldt-Jakob Disease Risk.

Sanchez-Juan P, Bishop MT, Kovacs GG, Calero M, Aulchenko YS, Ladogana A, Boyd

A, Lewis V, Ponto C, Calero O, Poleggi A, Carracedo Á, van der Lee SJ, Ströbel T, Rivadeneira














https://www.ncbi.nlm.nih.gov/pubmed/?term=V%C3%A1zquez%20S%5BAuthor%5D&cauthor=true&cauthor_uid=25236396



https://www.ncbi.nlm.nih.gov/pubmed/?term=Association+between+IL7RA+polymorphisms+and+the+successful+therapy+against+HCV+in+HIV%2FHCV-coinfected+patients

https://www.ncbi.nlm.nih.gov/pubmed/?term=Association+between+IL7RA+polymorphisms+and+the+successful+therapy+against+HCV+in+HIV%2FHCV-coinfected+patients














https://www.ncbi.nlm.nih.gov/pubmed/?term=rs7903146+Polymorphism+at+Transcription+Factor+7+Like+2+Gene+Is+Associated+with+Total+Cholesterol+and+Lipoprotein+Profile+in+HIV%2FHepatitis+C+Virus-Coinfected+Patients

https://www.ncbi.nlm.nih.gov/pubmed/?term=Sanchez-Juan%20P%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Bishop%20MT%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Kovacs%20GG%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Calero%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Aulchenko%20YS%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Ladogana%20A%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Boyd%20A%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Boyd%20A%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Lewis%20V%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Ponto%20C%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Calero%20O%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Poleggi%20A%5BAuthor%5D&cauthor=true&cauthor_uid=25918841


https://www.ncbi.nlm.nih.gov/pubmed/?term=van%20der%20Lee%20SJ%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Str%C3%B6bel%20T%5BAuthor%5D&cauthor=true&cauthor_uid=25918841


132

F, Hofman A, Haïk S, Combarros O, Berciano J, Uitterlinden AG, Collins SJ, Budka H, Brandel

JP, Laplanche JL, Pocchiari M, Zerr I, Knight RS, Will RG, van Duijn CM. PLoS One. 2015 Apr


PMID: 25918841


7. Common rare variants of microRNA genes in autism spectrum disorders.

Claudio Toma, Bárbara Torrico, Amaia Hervás, Marta Salgado, Isabel Rueda, Rafael Valdés-

Mas Jan k. Buitelaar, Nanda Rommelse, Bárbara Franke, Christine Freitag, Andreas Reif, Luis

Alberto Pérez-Jurado, Agatino Battaglia, Luigi Mazzone, Elena Bacchelli, Xose S. Puente, Bru

Cormand. World J Biol Psychiatry. 2015 Apr 23:1-11.

PMID: 25903372


8. Single nucleotide polymorphisms of CXCL9-11 chemokines are associated with liver

fibrosis in HIV/HCVcoinfected patients.

Pineda-Tenor D, Berenguer J, García-Álvarez M, Guzmán-Fulgencio M, Carrero A, Aldámiz-

Echevarria T, Tejerina F, Diez C, Jiménez-Sousa MA, Fernández-Rodríguez A, Munoz-

Fernandez MA, Resino S. J Acquir Immune Defic Syndr. 2015 Apr 1;68(4):386-95. doi:

10.1097/QAI.0000000000000491.

PMID: 25559603


9. Non-Coding Recurrent Mutations in Chronic Lymphocytic Leukaemia.

Xose S. Puente, Silvia Beà, Rafael Valdés-Mas, Neus Villamor, Jesús Gutiérrez-Abril, José I.

Martín-Subero, Marta Munar, Carlota Rubio-Pérez, Pedro Jares, Marta Aymerich, Tycho

Baumann, Renée Beekman, Laura Belver, Anna Carrio, Giancarlo Castellano, Guillem Clot,

Enrique Colado, Dolors Colomer, Dolors Costa, Julio Delgado, Anna Enjuanes, Xavier Estivill,

Adolfo A. Ferrando, Josep L. Gelpí, Blanca González, Santiago González, Marcos González,

Marta Gut, Jesús M. Hernández-Rivas, Mónica López-Guerra, David Martín-García, Alba

Navarro, Pilar Nicolás, Modesto Orozco, Ángel R. Payer, Magda Pinyol, David G. Pisano, Diana

A. Puente, Ana C. Queirós, Víctor Quesada, Carlos M. Romeo-Casabona, Cristina Royo,

Romina Royo, María Rozman, Nuria Russiñol, Itziar Salaverría, Kostas Stamatopoulos, Hendrik

G. Stunnenberg, David Tamborero, María J. Terol, Alfonso Valencia, Nuria López-Bigas, David


https://www.ncbi.nlm.nih.gov/pubmed/?term=Hofman%20A%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Ha%C3%AFk%20S%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Combarros%20O%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Berciano%20J%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Uitterlinden%20AG%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Collins%20SJ%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Budka%20H%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Brandel%20JP%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Brandel%20JP%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Laplanche%20JL%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Pocchiari%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Zerr%20I%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Knight%20RS%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=Will%20RG%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=van%20Duijn%20CM%5BAuthor%5D&cauthor=true&cauthor_uid=25918841

https://www.ncbi.nlm.nih.gov/pubmed/?term=A+Genome+Wide+Association+Study+Links+Glutamate+Receptor+Pathway+to+Sporadic+Creutzfeldt-Jakob+Disease+Risk.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Common+rare+variants+of+microRNA+genes+in+autism+spectrum+disorders












https://www.ncbi.nlm.nih.gov/pubmed/?term=Munoz-Fernandez%20MA%5BAuthor%5D&cauthor=true&cauthor_uid=25559603

https://www.ncbi.nlm.nih.gov/pubmed/?term=Munoz-Fernandez%20MA%5BAuthor%5D&cauthor=true&cauthor_uid=25559603



133

Torrents, Ivo Gut, Armando López-Guillermo, Carlos López-Otín & Elías Campo. Nature. 2015

Jul 22. doi: 10.1038/nature14666.

PMID: 26200345


10. Replication study of previous migraine genome-wide association study findings in a

Spanish sample of migraine with aura.

Sintas C, Fernández-Morales J, Vila-Pueyo M, Narberhaus B, Arenas C, Pozo-Rosich

P, Macaya A, Cormand B. Cephalalgia. 2015 Aug;35(9):776-82. doi:

10.1177/0333102414557841. Epub 2014 Nov 11.

PMID:25388962


11. Cumulative Role of Rare and Common Putative Functional Genetic Variants at NPAS3

in Schizophrenia Susceptibility.

González-Peñas J, Arrojo M, Paz E, Brenlla J, Páramo M, Costas J. Am J Med Genet B

Neuropsychiatr Genet. 2015 Oct;168(7):528-35. doi: 10.1002/ajmg.b.32324. Epub 2015 May

15.

PMID:25982957


12. Aetiology and epidemiology of cryptosporidiosis cases in Galicia (NW Spain), 2000 –

2008.

Abal-Fabeiro JL, Maside X, Llovo J, Bartolomé C. Epidemiol Infect. 2015 Oct;143(14):3022-

35. doi: 10.1017/S0950268815000163. Epub 2015 Feb 20.

PMID:25699561


13. Detection of Chromothripsis-Like Patterns With a Custom Array Platform for Chronic

Lymphocytic Leukemia.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Sintas%20C%5BAuthor%5D&cauthor=true&cauthor_uid=25388962

https://www.ncbi.nlm.nih.gov/pubmed/?term=Fern%C3%A1ndez-Morales%20J%5BAuthor%5D&cauthor=true&cauthor_uid=25388962

https://www.ncbi.nlm.nih.gov/pubmed/?term=Vila-Pueyo%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25388962

https://www.ncbi.nlm.nih.gov/pubmed/?term=Narberhaus%20B%5BAuthor%5D&cauthor=true&cauthor_uid=25388962

https://www.ncbi.nlm.nih.gov/pubmed/?term=Arenas%20C%5BAuthor%5D&cauthor=true&cauthor_uid=25388962

https://www.ncbi.nlm.nih.gov/pubmed/?term=Pozo-Rosich%20P%5BAuthor%5D&cauthor=true&cauthor_uid=25388962

https://www.ncbi.nlm.nih.gov/pubmed/?term=Pozo-Rosich%20P%5BAuthor%5D&cauthor=true&cauthor_uid=25388962

https://www.ncbi.nlm.nih.gov/pubmed/?term=Macaya%20A%5BAuthor%5D&cauthor=true&cauthor_uid=25388962


https://www.ncbi.nlm.nih.gov/pubmed/?term=Replication+study+of+previous+migraine+genome-wide+association+study+findings+in+a+Spanish+sample+of+migraine+with+aura.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Gonz%C3%A1lez-Pe%C3%B1as%20J%5BAuthor%5D&cauthor=true&cauthor_uid=25982957


https://www.ncbi.nlm.nih.gov/pubmed/?term=Paz%20E%5BAuthor%5D&cauthor=true&cauthor_uid=25982957

https://www.ncbi.nlm.nih.gov/pubmed/?term=Brenlla%20J%5BAuthor%5D&cauthor=true&cauthor_uid=25982957

https://www.ncbi.nlm.nih.gov/pubmed/?term=P%C3%A1ramo%20M%5BAuthor%5D&cauthor=true&cauthor_uid=25982957


https://www.ncbi.nlm.nih.gov/pubmed/?term=Cumulative+Role+of+Rare+and+Common+Putative+Functional+Genetic+Variants+at+NPAS3+in+Schizophrenia+Susceptibility.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Cumulative+Role+of+Rare+and+Common+Putative+Functional+Genetic+Variants+at+NPAS3+in+Schizophrenia+Susceptibility.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Abal-Fabeiro%20JL%5BAuthor%5D&cauthor=true&cauthor_uid=25699561

https://www.ncbi.nlm.nih.gov/pubmed/?term=Maside%20X%5BAuthor%5D&cauthor=true&cauthor_uid=25699561

https://www.ncbi.nlm.nih.gov/pubmed/?term=Llovo%20J%5BAuthor%5D&cauthor=true&cauthor_uid=25699561

https://www.ncbi.nlm.nih.gov/pubmed/?term=Bartolom%C3%A9%20C%5BAuthor%5D&cauthor=true&cauthor_uid=25699561

https://www.ncbi.nlm.nih.gov/pubmed/?term=Aetiology+and+epidemiology+of+cryptosporidiosis+cases+in+Galicia+(NW+Spain)%2C+2000+%E2%80%93+2008

134

Itziar Salaverria, David Martín-Garcia, Cristina López, Guillem Clot, Manel García-Aragonés,

Alba Navarro, Julio Delgado, Tycho Baumann, Magda Pinyol, Idoia Martin-Guerrero, Ana

Carrió, Dolors Costa, Ana C Queirós, Sandrine Jayne, Marta Aymerich, Neus Villamor, Dolors

Colomer, Marcos González, Armando López-Guillermo, Elias Campo, Martin J.S Dyer, Reiner

Siebert, Lluís Armengol, and Sílvia Beà. Genes Chromosomes Cancer. 2015 Nov;54(11):668-

80. doi: 10.1002/gcc.22277. [Epub ahead of print]

PMID: 26305789

FACTOR DE IMPACTO: 4.041 CUARTIL: Q1 14. IL7RA polymorphisms predict the CD4+ recovery in HIV patients on cART. Guzmán-Fulgencio M, Berenguer J, Jiménez-Sousa MA, Micheloud D, García-Álvarez M, Bellón JM, Aldámiz-Echevarría T, García-Broncano P, Catalán P, Diez C, Pineda-Tenor D, Resino S. Eur J Clin Invest. 2015 Nov;45(11):1192-9. doi: 10.1111/eci.12539. PMID: 26402121


15. Polymorphisms Associated with Age at Onset in Patients with Moderate-to-Severe

Plaque Psoriasis.

Prieto-Pérez R, Solano-López G, Cabaleiro T, Román M, Ochoa D, Talegón M, Baniandrés

O, López-Estebaranz JL, de la Cueva P, Daudén E, Abad-Santos F. J Immunol Res. 2015

Nov;2015:101879. doi: 10.1155/2015/101879. Epub 2015 Nov 3.

PMID: 26613086


16. Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.

Bàrbara Torrico, Noèlia Fernàndez-Castillo, Amaia Hervás, Montserrat Milà, Marta Salgado, Isabel Rueda, Jan K Buitelaar, Nanda Rommelse, Anoek M Oerlemans, Janita Bralten, Christine M Freitag, Andreas Reif, Agatino Battaglia, Luigi Mazzone, Elena Maestrini, Bru Cormand, Claudio Toma. Eur J Hum Genet. 2015 Dec;23(12):1694-701. doi: 10.1038/ejhg.2015.37.

PMID: 25782667










https://www.ncbi.nlm.nih.gov/pubmed/?term=Ald%C3%A1miz-Echevarr%C3%ADa%20T%5BAuthor%5D&cauthor=true&cauthor_uid=26402121


https://www.ncbi.nlm.nih.gov/pubmed/?term=Catal%C3%A1n%20P%5BAuthor%5D&cauthor=true&cauthor_uid=26402121





https://www.ncbi.nlm.nih.gov/pubmed/?term=IL7RA+polymorphisms+predict+the+CD4%2B+recovery+in+HIV+patients+on+cART.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Prieto-P%C3%A9rez%20R%5BAuthor%5D&cauthor=true&cauthor_uid=26613086

https://www.ncbi.nlm.nih.gov/pubmed/?term=Solano-L%C3%B3pez%20G%5BAuthor%5D&cauthor=true&cauthor_uid=26613086

https://www.ncbi.nlm.nih.gov/pubmed/?term=Cabaleiro%20T%5BAuthor%5D&cauthor=true&cauthor_uid=26613086

https://www.ncbi.nlm.nih.gov/pubmed/?term=Rom%C3%A1n%20M%5BAuthor%5D&cauthor=true&cauthor_uid=26613086

https://www.ncbi.nlm.nih.gov/pubmed/?term=Ochoa%20D%5BAuthor%5D&cauthor=true&cauthor_uid=26613086

https://www.ncbi.nlm.nih.gov/pubmed/?term=Taleg%C3%B3n%20M%5BAuthor%5D&cauthor=true&cauthor_uid=26613086

https://www.ncbi.nlm.nih.gov/pubmed/?term=Baniandr%C3%A9s%20O%5BAuthor%5D&cauthor=true&cauthor_uid=26613086

https://www.ncbi.nlm.nih.gov/pubmed/?term=Baniandr%C3%A9s%20O%5BAuthor%5D&cauthor=true&cauthor_uid=26613086

https://www.ncbi.nlm.nih.gov/pubmed/?term=L%C3%B3pez-Estebaranz%20JL%5BAuthor%5D&cauthor=true&cauthor_uid=26613086

https://www.ncbi.nlm.nih.gov/pubmed/?term=de%20la%20Cueva%20P%5BAuthor%5D&cauthor=true&cauthor_uid=26613086

https://www.ncbi.nlm.nih.gov/pubmed/?term=Daud%C3%A9n%20E%5BAuthor%5D&cauthor=true&cauthor_uid=26613086

https://www.ncbi.nlm.nih.gov/pubmed/?term=Abad-Santos%20F%5BAuthor%5D&cauthor=true&cauthor_uid=26613086

https://www.ncbi.nlm.nih.gov/pubmed/?term=Polymorphisms+Associated+with+Age+at+Onset+in+Patients+with+Moderate-to-Severe+Plaque+Psoriasis.


135

CUARTIL: D1

17. Toll-like receptor 8 (TLR8) polymorphisms are associated with non-progression of chronic hepatitis C in HIV/HCV coinfected patients. Fernández-Rodríguez A, Berenguer J, Jiménez-Sousa MA, García-Álvarez M, Aldámiz-Echevarría T, Pineda-Tenor D, Diez C, de la Barrera J, Bellon JM, Briz V, Resino S. Infect Genet Evol. 2015 Dec;36:339-44. doi: 10.1016/j.meegid.2015.10.006. Epub 2015 Oct 9. PMID: 26455634


18. Genetic contribution to iron status: SNPs related to iron deficiency anaemia and fine

mapping of CACNA2D3 calcium channel subunit.

Baeza-Richer C, Arroyo-Pardo E, Blanco-Rojo R, Toxqui L, Remacha A, Vaquero MP, López-

Parra AM. Blood Cells Mol Dis. 2015 Dec;55(4):273-80. doi: 10.1016/j.bcmd.2015.07.008.

Epub 2015 Jul 16.

PMID: 26460247


PUBLICACIONES 2016

1. Impact of patatin-like phospholipase domain-containing 3 gene polymorphism (rs738409) on severity of liver disease in HIV/hepatitis C virus-coinfected patients. Jiménez-Sousa MA, Berenguer J, García-Álvarez M, Gutierrez-Rivas M, Aldámiz-Echevarria T, Tejerina F, Diez C, Vázquez-Morón S, Resino S. AIDS. 2016 Jan 28;30(3):465-70. doi: 10.1097/QAD.0000000000000908. PMID: 26760234

FACTOR DE IMPACTO: 4.40 CUARTIL: Q1 2. NOTCH1, TP53 and MAP2K1 mutations in splenic diffuse red pulp small B-cell

lymphoma are associated with progressive disease.

Martinez D, Navarro A, Martinez-Trillos A, Molina-Urra R, Gonzalez-Farre B, Salaverria

I, Nadeu F, Enjuanes A, Clot G, Costa D, Carrio A, Villamor N, Colomer D, Martinez A, Bens

S, Siebert R, Wotherspoon A, Beà S, Matutes E, Campo E. Am J Surg Pathol. 2016

Feb;40(2):192-201. doi: 10.1097/PAS.0000000000000523.

PMID: 26426381









https://www.ncbi.nlm.nih.gov/pubmed/?term=de%20la%20Barrera%20J%5BAuthor%5D&cauthor=true&cauthor_uid=26455634

https://www.ncbi.nlm.nih.gov/pubmed/?term=Bellon%20JM%5BAuthor%5D&cauthor=true&cauthor_uid=26455634



https://www.ncbi.nlm.nih.gov/pubmed/?term=Toll-like+receptor+8+(TLR8)+polymorphisms+are+associated+with+non-progression+of+chronic+hepatitis+C+in+HIV%2FHCV+coinfected+patients.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Toll-like+receptor+8+(TLR8)+polymorphisms+are+associated+with+non-progression+of+chronic+hepatitis+C+in+HIV%2FHCV+coinfected+patients.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Baeza-Richer%20C%5BAuthor%5D&cauthor=true&cauthor_uid=26460247

https://www.ncbi.nlm.nih.gov/pubmed/?term=Arroyo-Pardo%20E%5BAuthor%5D&cauthor=true&cauthor_uid=26460247

https://www.ncbi.nlm.nih.gov/pubmed/?term=Blanco-Rojo%20R%5BAuthor%5D&cauthor=true&cauthor_uid=26460247

https://www.ncbi.nlm.nih.gov/pubmed/?term=Toxqui%20L%5BAuthor%5D&cauthor=true&cauthor_uid=26460247

https://www.ncbi.nlm.nih.gov/pubmed/?term=Remacha%20A%5BAuthor%5D&cauthor=true&cauthor_uid=26460247

https://www.ncbi.nlm.nih.gov/pubmed/?term=Vaquero%20MP%5BAuthor%5D&cauthor=true&cauthor_uid=26460247

https://www.ncbi.nlm.nih.gov/pubmed/?term=L%C3%B3pez-Parra%20AM%5BAuthor%5D&cauthor=true&cauthor_uid=26460247

https://www.ncbi.nlm.nih.gov/pubmed/?term=L%C3%B3pez-Parra%20AM%5BAuthor%5D&cauthor=true&cauthor_uid=26460247

https://www.ncbi.nlm.nih.gov/pubmed/?term=Genetic+contribution+to+iron+status%3A+SNPs+related+to+iron+deficiency+anaemia+and+fine+mapping+of+CACNA2D3+calcium+channel+subunit.






https://www.ncbi.nlm.nih.gov/pubmed/?term=Gutierrez-Rivas%20M%5BAuthor%5D&cauthor=true&cauthor_uid=26760234





https://www.ncbi.nlm.nih.gov/pubmed/?term=V%C3%A1zquez-Mor%C3%B3n%20S%5BAuthor%5D&cauthor=true&cauthor_uid=26760234


https://www.ncbi.nlm.nih.gov/pubmed/?term=Impact+of+patatin-like+phospholipase+domain-containing+3+gene+polymorphism+(rs738409)+on+severity+of+liver+disease+in+HIV%2Fhepatitis+C+virus-coinfected+patients

https://www.ncbi.nlm.nih.gov/pubmed/?term=Martinez%20D%5BAuthor%5D&cauthor=true&cauthor_uid=26426381

https://www.ncbi.nlm.nih.gov/pubmed/?term=Navarro%20A%5BAuthor%5D&cauthor=true&cauthor_uid=26426381

https://www.ncbi.nlm.nih.gov/pubmed/?term=Martinez-Trillos%20A%5BAuthor%5D&cauthor=true&cauthor_uid=26426381

https://www.ncbi.nlm.nih.gov/pubmed/?term=Molina-Urra%20R%5BAuthor%5D&cauthor=true&cauthor_uid=26426381

https://www.ncbi.nlm.nih.gov/pubmed/?term=Gonzalez-Farre%20B%5BAuthor%5D&cauthor=true&cauthor_uid=26426381

https://www.ncbi.nlm.nih.gov/pubmed/?term=Salaverria%20I%5BAuthor%5D&cauthor=true&cauthor_uid=26426381

https://www.ncbi.nlm.nih.gov/pubmed/?term=Salaverria%20I%5BAuthor%5D&cauthor=true&cauthor_uid=26426381

https://www.ncbi.nlm.nih.gov/pubmed/?term=Nadeu%20F%5BAuthor%5D&cauthor=true&cauthor_uid=26426381

https://www.ncbi.nlm.nih.gov/pubmed/?term=Enjuanes%20A%5BAuthor%5D&cauthor=true&cauthor_uid=26426381

https://www.ncbi.nlm.nih.gov/pubmed/?term=Clot%20G%5BAuthor%5D&cauthor=true&cauthor_uid=26426381

https://www.ncbi.nlm.nih.gov/pubmed/?term=Costa%20D%5BAuthor%5D&cauthor=true&cauthor_uid=26426381

https://www.ncbi.nlm.nih.gov/pubmed/?term=Carrio%20A%5BAuthor%5D&cauthor=true&cauthor_uid=26426381

https://www.ncbi.nlm.nih.gov/pubmed/?term=Villamor%20N%5BAuthor%5D&cauthor=true&cauthor_uid=26426381

https://www.ncbi.nlm.nih.gov/pubmed/?term=Colomer%20D%5BAuthor%5D&cauthor=true&cauthor_uid=26426381

https://www.ncbi.nlm.nih.gov/pubmed/?term=Martinez%20A%5BAuthor%5D&cauthor=true&cauthor_uid=26426381

https://www.ncbi.nlm.nih.gov/pubmed/?term=Bens%20S%5BAuthor%5D&cauthor=true&cauthor_uid=26426381

https://www.ncbi.nlm.nih.gov/pubmed/?term=Bens%20S%5BAuthor%5D&cauthor=true&cauthor_uid=26426381

https://www.ncbi.nlm.nih.gov/pubmed/?term=Siebert%20R%5BAuthor%5D&cauthor=true&cauthor_uid=26426381

https://www.ncbi.nlm.nih.gov/pubmed/?term=Wotherspoon%20A%5BAuthor%5D&cauthor=true&cauthor_uid=26426381

https://www.ncbi.nlm.nih.gov/pubmed/?term=Be%C3%A0%20S%5BAuthor%5D&cauthor=true&cauthor_uid=26426381

https://www.ncbi.nlm.nih.gov/pubmed/?term=Matutes%20E%5BAuthor%5D&cauthor=true&cauthor_uid=26426381

https://www.ncbi.nlm.nih.gov/pubmed/?term=Campo%20E%5BAuthor%5D&cauthor=true&cauthor_uid=26426381

https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1%2C+TP53+and+MAP2K1+mutations+in+splenic+diffuse+red+pulp+small+B-cell+lymphoma+are+associated+with+progressive+disease.

136


3. Integrative Transcriptome, Genome and Quantitative Trait Loci Resources Identify

Single Nucleotide Polymorphisms in Candidate Genes for Growth Traits in Turbot.

Robledo D, Fernández C, Hermida M, Sciara A, Álvarez-Dios JA, Cabaleiro S, Caamaño

R, Martínez P, Bouza C. Int J Mol Sci. 2016 Feb 17;17(2):243. doi: 10.3390/ijms17020243.

PMID: 26901189

FACTOR DE IMPACTO: 3.257 CUARTIL: Q2 4. ApoA1, ApoJ and ApoE Plasma Levels and Genotype Frequencies in Cerebral Amyloid Angiopathy. Montañola A, de Retana SF, López-Rueda A, Merino-Zamorano C, Penalba A, Fernández-Álvarez P, Rodríguez-Luna D, Malagelada A, Pujadas F, Montaner J, Hernández-Guillamon M. Neuromolecular Med. 2016 Mar;18(1):99-108. doi: 10.1007/s12017-015-8381-7. Epub 2015 Dec 14. PMID: 26661731 FACTOR DE IMPACTO: 3.692 CUARTIL: Q2

5. Genome wide association study in Spanish identifies ADAM metallopeptidase with

thrombospondin type 1 motif, 9 (ADAMTS9), as a novel asthma susceptibility gene.

Barreto-Luis A, Pino-Yanes M, Corrales A, Campo P, Callero A, Acosta-Herrera M, Cumplido

J, Ma SF, Martinez-Tadeo J, Villar J, Garcia JG, Carrillo T, Carracedo Á, Blanca M, Flores C. J

Allergy Clin Immunol. 2016 Mar;137(3):964-6. doi: 10.1016/j.jaci.2015.09.051. Epub 2015 Nov

24.


6. Comprehensive Analysis of Pan-African Mitochondrial DNA Variation Provides New

Insights into Continental Variation and Demography.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Robledo%20D%5BAuthor%5D&cauthor=true&cauthor_uid=26901189

https://www.ncbi.nlm.nih.gov/pubmed/?term=Fern%C3%A1ndez%20C%5BAuthor%5D&cauthor=true&cauthor_uid=26901189

https://www.ncbi.nlm.nih.gov/pubmed/?term=Hermida%20M%5BAuthor%5D&cauthor=true&cauthor_uid=26901189

https://www.ncbi.nlm.nih.gov/pubmed/?term=Sciara%20A%5BAuthor%5D&cauthor=true&cauthor_uid=26901189

https://www.ncbi.nlm.nih.gov/pubmed/?term=%C3%81lvarez-Dios%20JA%5BAuthor%5D&cauthor=true&cauthor_uid=26901189

https://www.ncbi.nlm.nih.gov/pubmed/?term=Cabaleiro%20S%5BAuthor%5D&cauthor=true&cauthor_uid=26901189

https://www.ncbi.nlm.nih.gov/pubmed/?term=Caama%C3%B1o%20R%5BAuthor%5D&cauthor=true&cauthor_uid=26901189

https://www.ncbi.nlm.nih.gov/pubmed/?term=Caama%C3%B1o%20R%5BAuthor%5D&cauthor=true&cauthor_uid=26901189

https://www.ncbi.nlm.nih.gov/pubmed/?term=Mart%C3%ADnez%20P%5BAuthor%5D&cauthor=true&cauthor_uid=26901189

https://www.ncbi.nlm.nih.gov/pubmed/?term=Bouza%20C%5BAuthor%5D&cauthor=true&cauthor_uid=26901189

https://www.ncbi.nlm.nih.gov/pubmed/?term=Integrative+Transcriptome%2C+Genome+and+Quantitative+Trait+Loci+Resources+Identify+Single+Nucleotide+Polymorphisms+in+Candidate+Genes+for+Growth+Traits+in+Turbot

https://www.ncbi.nlm.nih.gov/pubmed/?term=Monta%C3%B1ola%20A%5BAuthor%5D&cauthor=true&cauthor_uid=26661731

https://www.ncbi.nlm.nih.gov/pubmed/?term=de%20Retana%20SF%5BAuthor%5D&cauthor=true&cauthor_uid=26661731

https://www.ncbi.nlm.nih.gov/pubmed/?term=L%C3%B3pez-Rueda%20A%5BAuthor%5D&cauthor=true&cauthor_uid=26661731

https://www.ncbi.nlm.nih.gov/pubmed/?term=Merino-Zamorano%20C%5BAuthor%5D&cauthor=true&cauthor_uid=26661731

https://www.ncbi.nlm.nih.gov/pubmed/?term=Penalba%20A%5BAuthor%5D&cauthor=true&cauthor_uid=26661731

https://www.ncbi.nlm.nih.gov/pubmed/?term=Fern%C3%A1ndez-%C3%81lvarez%20P%5BAuthor%5D&cauthor=true&cauthor_uid=26661731

https://www.ncbi.nlm.nih.gov/pubmed/?term=Fern%C3%A1ndez-%C3%81lvarez%20P%5BAuthor%5D&cauthor=true&cauthor_uid=26661731

https://www.ncbi.nlm.nih.gov/pubmed/?term=Rodr%C3%ADguez-Luna%20D%5BAuthor%5D&cauthor=true&cauthor_uid=26661731

https://www.ncbi.nlm.nih.gov/pubmed/?term=Malagelada%20A%5BAuthor%5D&cauthor=true&cauthor_uid=26661731

https://www.ncbi.nlm.nih.gov/pubmed/?term=Pujadas%20F%5BAuthor%5D&cauthor=true&cauthor_uid=26661731

https://www.ncbi.nlm.nih.gov/pubmed/?term=Montaner%20J%5BAuthor%5D&cauthor=true&cauthor_uid=26661731

https://www.ncbi.nlm.nih.gov/pubmed/?term=Hern%C3%A1ndez-Guillamon%20M%5BAuthor%5D&cauthor=true&cauthor_uid=26661731

https://www.ncbi.nlm.nih.gov/pubmed/?term=ApoA1%2C+ApoJ+and+ApoE+Plasma+Levels+and+Genotype+Frequencies+in+Cerebral+Amyloid+Angiopathy.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Barreto-Luis%20A%5BAuthor%5D&cauthor=true&cauthor_uid=26620591

https://www.ncbi.nlm.nih.gov/pubmed/?term=Pino-Yanes%20M%5BAuthor%5D&cauthor=true&cauthor_uid=26620591

https://www.ncbi.nlm.nih.gov/pubmed/?term=Corrales%20A%5BAuthor%5D&cauthor=true&cauthor_uid=26620591

https://www.ncbi.nlm.nih.gov/pubmed/?term=Campo%20P%5BAuthor%5D&cauthor=true&cauthor_uid=26620591

https://www.ncbi.nlm.nih.gov/pubmed/?term=Callero%20A%5BAuthor%5D&cauthor=true&cauthor_uid=26620591




https://www.ncbi.nlm.nih.gov/pubmed/?term=Ma%20SF%5BAuthor%5D&cauthor=true&cauthor_uid=26620591

https://www.ncbi.nlm.nih.gov/pubmed/?term=Martinez-Tadeo%20J%5BAuthor%5D&cauthor=true&cauthor_uid=26620591


https://www.ncbi.nlm.nih.gov/pubmed/?term=Garcia%20JG%5BAuthor%5D&cauthor=true&cauthor_uid=26620591

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https://www.ncbi.nlm.nih.gov/pubmed/?term=Blanca%20M%5BAuthor%5D&cauthor=true&cauthor_uid=26620591


https://www.ncbi.nlm.nih.gov/pubmed/?term=Genome-wide+association+study+in+Spanish+identifies+ADAMTS9+as+a+novel+asthma+susceptibility+gene

https://www.ncbi.nlm.nih.gov/pubmed/?term=Genome-wide+association+study+in+Spanish+identifies+ADAMTS9+as+a+novel+asthma+susceptibility+gene

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Cerezo M, Gusmão L, Černý V, Uddin N, Syndercombe-Court D, Gómez-Carballa A, Göbel

T, Schneider PM, Salas A. J Genet Genomics. 2016 Mar 20;43(3):133-43. doi:

10.1016/j.jgg.2015.09.005. Epub 2015 Sep 25.


7. CXCL12 rs1029153 polymorphism is associated with the sustained virological

response in HIV/HCV-coinfected patients on HCV therapy.

Pineda-Tenor D, Jiménez-Sousa MA, Rallón N, Berenguer J, Soriano V, Aldamiz-Echevarría T, García-Álvarez M, Diez C, Fernández-Rodríguez A, Benito JM, Resino S. AIDS Res Hum Retroviruses. 2016 Mar;32(3):226-31. doi: 10.1089/AID.2015.0223. Epub 2015 Dec 1. PMID: 26499461 FACTOR DE IMPACTO: 1.95 CUARTIL: Q3 8. Integrating Genetic, Neuropsychological and Neuroimaging Data to Model Early-Onset

Obsessive Compulsive Disorder Severity.

Mas S, Gassó P, Morer A, Calvo A, Bargalló N, Lafuente A, Lázaro L. PLoS One. 2016 Apr



9. Corrigendum. Identification of a new locus and validation of previously reported loci

showing differential methylation associated with smoking.

Sayols-Baixeras S, Lluís-Ganella C, Subirana I, Salas LA, Vilahur N, Corella D, Muñoz

D, Segura A, Jimenez-Conde J, Moran S, Soriano-Tárraga C, Roquer J, Lopez-Farré

A, Marrugat J, Fitó M, Elosua R. Epigenetics. 2016 Apr;11(2):174. doi:

10.1080/15592294.2016.1162044.


https://www.ncbi.nlm.nih.gov/pubmed/?term=Cerezo%20M%5BAuthor%5D&cauthor=true&cauthor_uid=27020033

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https://www.ncbi.nlm.nih.gov/pubmed/?term=%C4%8Cern%C3%BD%20V%5BAuthor%5D&cauthor=true&cauthor_uid=27020033

https://www.ncbi.nlm.nih.gov/pubmed/?term=Uddin%20N%5BAuthor%5D&cauthor=true&cauthor_uid=27020033

https://www.ncbi.nlm.nih.gov/pubmed/?term=Syndercombe-Court%20D%5BAuthor%5D&cauthor=true&cauthor_uid=27020033

https://www.ncbi.nlm.nih.gov/pubmed/?term=G%C3%B3mez-Carballa%20A%5BAuthor%5D&cauthor=true&cauthor_uid=27020033

https://www.ncbi.nlm.nih.gov/pubmed/?term=G%C3%B6bel%20T%5BAuthor%5D&cauthor=true&cauthor_uid=27020033

https://www.ncbi.nlm.nih.gov/pubmed/?term=G%C3%B6bel%20T%5BAuthor%5D&cauthor=true&cauthor_uid=27020033

https://www.ncbi.nlm.nih.gov/pubmed/?term=Schneider%20PM%5BAuthor%5D&cauthor=true&cauthor_uid=27020033

https://www.ncbi.nlm.nih.gov/pubmed/?term=Salas%20A%5BAuthor%5D&cauthor=true&cauthor_uid=27020033

https://www.ncbi.nlm.nih.gov/pubmed/?term=Comprehensive+Analysis+of+Pan-African+Mitochondrial+DNA+Variation+Provides+New+Insights+into+Continental+Variation+and+Demography



https://www.ncbi.nlm.nih.gov/pubmed/?term=CXCL12+rs1029153+polymorphism+is+associated+with+the+sustained+virological+response+in+HIV%2FHCV-coinfected+patients+on+HCV+therapy.

https://www.ncbi.nlm.nih.gov/pubmed/?term=CXCL12+rs1029153+polymorphism+is+associated+with+the+sustained+virological+response+in+HIV%2FHCV-coinfected+patients+on+HCV+therapy.



https://www.ncbi.nlm.nih.gov/pubmed/?term=Sayols-Baixeras%20S%5BAuthor%5D&cauthor=true&cauthor_uid=27058811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Llu%C3%ADs-Ganella%20C%5BAuthor%5D&cauthor=true&cauthor_uid=27058811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Subirana%20I%5BAuthor%5D&cauthor=true&cauthor_uid=27058811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Salas%20LA%5BAuthor%5D&cauthor=true&cauthor_uid=27058811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Vilahur%20N%5BAuthor%5D&cauthor=true&cauthor_uid=27058811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Corella%20D%5BAuthor%5D&cauthor=true&cauthor_uid=27058811



https://www.ncbi.nlm.nih.gov/pubmed/?term=Segura%20A%5BAuthor%5D&cauthor=true&cauthor_uid=27058811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Jimenez-Conde%20J%5BAuthor%5D&cauthor=true&cauthor_uid=27058811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Moran%20S%5BAuthor%5D&cauthor=true&cauthor_uid=27058811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Soriano-T%C3%A1rraga%20C%5BAuthor%5D&cauthor=true&cauthor_uid=27058811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Roquer%20J%5BAuthor%5D&cauthor=true&cauthor_uid=27058811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Lopez-Farr%C3%A9%20A%5BAuthor%5D&cauthor=true&cauthor_uid=27058811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Lopez-Farr%C3%A9%20A%5BAuthor%5D&cauthor=true&cauthor_uid=27058811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Marrugat%20J%5BAuthor%5D&cauthor=true&cauthor_uid=27058811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Fit%C3%B3%20M%5BAuthor%5D&cauthor=true&cauthor_uid=27058811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Elosua%20R%5BAuthor%5D&cauthor=true&cauthor_uid=27058811

https://www.ncbi.nlm.nih.gov/pubmed/?term=Corrigendum.+Identification+of+a+new+locus+and+validation+of+previously+reported+loci+showing+differential+methylation+associated+with+smoking.

138

10. Pharmacogenetic study of antipsychotic induced acute extrapyramidal symptoms in

a first episode psychosis cohort: role of dopamine, serotonin and glutamate candidate

genes.

Mas S, Gassó P, Lafuente A, Bioque M, Lobo A, Gonzàlez-Pinto A, Olmeda MS, Corripio I,

Llerena A, Cabrera B, Saiz-Ruiz J, Bernardo M; PEPs GROUP. Pharmacogenomics J. 2016

Jun 7. doi: 10.1038/tpj.2016.44.

PMID: 27272046 FACTOR DE IMPACTO: 3.784 CUARTIL: Q1 11. Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children´s Intelligence. Cáceres A, Esko T, Pappa I, Gutiérrez A, Lopez-Espinosa MJ, Llop S, Bustamante M, Tiemeier H, Metspalu A, Joshi PK, Wilsonx JF, Reina-Castillón J, Shin J, Pausova Z, Paus T, Sunyer J, Pérez-Jurado LA, González JR. PLoS One. 2016 Jun 29;11(6):e0157739. doi: 10.1371/journal.pone.0157739. eCollection 2016. PMID: 27355585 FACTOR DE IMPACTO: 3.057 CUARTIL: Q1

12. Targeted resequencing of regulatory regions at schizophrenia risk loci: Role of rare

functional variants at chromatin repressive states.

González-Peñas J, Amigo J, Santomé L, Sobrino B, Brenlla J, Agra S, Paz E, Páramo

M, Carracedo Á, Arrojo M, Costas J. Schizophr Res. 2016 Jul;174(1-3):10-6. doi:

10.1016/j.schres.2016.03.029. Epub 2016 Apr 8.


13. IL15 polymorphism is associated with advanced fibrosis, inflammation-related

biomarkers and virological response in human immunodeficiency virus/hepatitis C virus

coinfection.

Jiménez-Sousa MA, Berenguer J, Rallón N, Pineda-Tenor D, Aldamiz-Echevarria T, Soriano

V, García-Álvarez M, Vazquez-Morón S, Restrepo C, Carrero A, Benito JM, Resino S. Liver

Int. 2016 Sep;36(9):1258-66. doi: 10.1111/liv.13079. Epub 2016 Mar 14.




https://www.ncbi.nlm.nih.gov/pubmed/?term=C%C3%A1ceres%20A%5BAuthor%5D&cauthor=true&cauthor_uid=27355585

https://www.ncbi.nlm.nih.gov/pubmed/?term=Esko%20T%5BAuthor%5D&cauthor=true&cauthor_uid=27355585

https://www.ncbi.nlm.nih.gov/pubmed/?term=Pappa%20I%5BAuthor%5D&cauthor=true&cauthor_uid=27355585


https://www.ncbi.nlm.nih.gov/pubmed/?term=Lopez-Espinosa%20MJ%5BAuthor%5D&cauthor=true&cauthor_uid=27355585

https://www.ncbi.nlm.nih.gov/pubmed/?term=Llop%20S%5BAuthor%5D&cauthor=true&cauthor_uid=27355585




https://www.ncbi.nlm.nih.gov/pubmed/?term=Metspalu%20A%5BAuthor%5D&cauthor=true&cauthor_uid=27355585

https://www.ncbi.nlm.nih.gov/pubmed/?term=Joshi%20PK%5BAuthor%5D&cauthor=true&cauthor_uid=27355585

https://www.ncbi.nlm.nih.gov/pubmed/?term=Wilsonx%20JF%5BAuthor%5D&cauthor=true&cauthor_uid=27355585

https://www.ncbi.nlm.nih.gov/pubmed/?term=Reina-Castill%C3%B3n%20J%5BAuthor%5D&cauthor=true&cauthor_uid=27355585

https://www.ncbi.nlm.nih.gov/pubmed/?term=Shin%20J%5BAuthor%5D&cauthor=true&cauthor_uid=27355585

https://www.ncbi.nlm.nih.gov/pubmed/?term=Pausova%20Z%5BAuthor%5D&cauthor=true&cauthor_uid=27355585

https://www.ncbi.nlm.nih.gov/pubmed/?term=Paus%20T%5BAuthor%5D&cauthor=true&cauthor_uid=27355585



https://www.ncbi.nlm.nih.gov/pubmed/?term=P%C3%A9rez-Jurado%20LA%5BAuthor%5D&cauthor=true&cauthor_uid=27355585

https://www.ncbi.nlm.nih.gov/pubmed/?term=Gonz%C3%A1lez%20JR%5BAuthor%5D&cauthor=true&cauthor_uid=27355585


https://www.ncbi.nlm.nih.gov/pubmed/?term=Gonz%C3%A1lez-Pe%C3%B1as%20J%5BAuthor%5D&cauthor=true&cauthor_uid=27066855

https://www.ncbi.nlm.nih.gov/pubmed/?term=Amigo%20J%5BAuthor%5D&cauthor=true&cauthor_uid=27066855

https://www.ncbi.nlm.nih.gov/pubmed/?term=Santom%C3%A9%20L%5BAuthor%5D&cauthor=true&cauthor_uid=27066855

https://www.ncbi.nlm.nih.gov/pubmed/?term=Sobrino%20B%5BAuthor%5D&cauthor=true&cauthor_uid=27066855

https://www.ncbi.nlm.nih.gov/pubmed/?term=Brenlla%20J%5BAuthor%5D&cauthor=true&cauthor_uid=27066855

https://www.ncbi.nlm.nih.gov/pubmed/?term=Agra%20S%5BAuthor%5D&cauthor=true&cauthor_uid=27066855

https://www.ncbi.nlm.nih.gov/pubmed/?term=Paz%20E%5BAuthor%5D&cauthor=true&cauthor_uid=27066855






https://www.ncbi.nlm.nih.gov/pubmed/?term=Targeted+resequencing+of+regulatory+regions+at+schizophrenia+risk+loci%3A+Role+of+rare+functional+variants+at+chromatin+repressive+states.





https://www.ncbi.nlm.nih.gov/pubmed/?term=Aldamiz-Echevarria%20T%5BAuthor%5D&cauthor=true&cauthor_uid=26836972




https://www.ncbi.nlm.nih.gov/pubmed/?term=Vazquez-Mor%C3%B3n%20S%5BAuthor%5D&cauthor=true&cauthor_uid=26836972

https://www.ncbi.nlm.nih.gov/pubmed/?term=Restrepo%20C%5BAuthor%5D&cauthor=true&cauthor_uid=26836972


https://www.ncbi.nlm.nih.gov/pubmed/?term=Benito%20JM%5BAuthor%5D&cauthor=true&cauthor_uid=26836972




139


14. Relationship of TRIM5 and TRIM22 polymorphisms with liver disease and HCV

clearance after antiviral therapy in HIV/HCV coinfected patients.

Medrano LM, Rallón N, Berenguer J, Jiménez-Sousa MA, Soriano V, Aldámiz-Echevarria T,

Fernández-Rodríguez A, García M, Tejerina F, Martínez I, Benito JM, Resino S. J Transl Med,

2016 Sep; 14:257.


15. Pharmacogenetic study focused on fluoxetine pharmacodynamics in children and

adolescent patients: Impact of the serotonin pathway.

Mas S, Blázquez A, Rodríguez N, Boloc D, Lafuente A, Arnaiz JA, Lázaro L, Gassó P.

Pharmacogenet Genomics. 2016 Nov;26(11):487-496.


16. IL-1B rs16944 polymorphism is related to septic shock and death. Jimenez-Sousa MA, Medrano LM, Liu P, Almansa R, Fernandez-Rodriguez A, Gomez-Sanchez E, Rico L, Heredia-Rodriguez M, Gomez-Pesquera E, Tamayo E et al. European journal of clinical investigation. 2016 Dec 47(1):53-62. PMID: 27859227 FACTOR DE IMPACTO: 2.687 CUARTIL: Q1

PUBLICACIONES 2017

1. Mx1, OAS1 and OAS2 polymorphisms are associated with the severity of liver disease in HIV/HCV-coinfected patients: A cross-sectional study. García-Álvarez M, Berenguer J, Jiménez-Sousa MA, Pineda-Tenor D, Aldámiz-Echevarria T, Tejerina F, Diez C, Vázquez-Morón S, Resino S. Sci Rep. 2017 Jan 31;7:41516. doi: 10.1038/srep41516.; PubMed Central PMCID: PMC5282518.


https://www.ncbi.nlm.nih.gov/pubmed/?term=Bl%C3%A1zquez%20A%5BAuthor%5D&cauthor=true&cauthor_uid=27660918

https://www.ncbi.nlm.nih.gov/pubmed/?term=Rodr%C3%ADguez%20N%5BAuthor%5D&cauthor=true&cauthor_uid=27660918

https://www.ncbi.nlm.nih.gov/pubmed/?term=Boloc%20D%5BAuthor%5D&cauthor=true&cauthor_uid=27660918

https://www.ncbi.nlm.nih.gov/pubmed/?term=Lafuente%20A%5BAuthor%5D&cauthor=true&cauthor_uid=27660918

https://www.ncbi.nlm.nih.gov/pubmed/?term=Arnaiz%20JA%5BAuthor%5D&cauthor=true&cauthor_uid=27660918

https://www.ncbi.nlm.nih.gov/pubmed/?term=L%C3%A1zaro%20L%5BAuthor%5D&cauthor=true&cauthor_uid=27660918


https://www.ncbi.nlm.nih.gov/pubmed/?term=Pharmacogenetic+study+focused+on+fluoxetine+pharmacodynamics+in+children+and+adolescent+patients%3A+Impact+of+the+serotonin+pathway

140

PMID: 28139728 FACTOR DE IMPACTO: 5.228 CUARTIL: Q1 2. IL-1B rs16944 polymorphism is related to septic shock and death. Jiménez-Sousa MÁ, Medrano LM, Liu P, Almansa R, Fernández-Rodríguez A, Gómez-Sánchez E, Rico L, Heredia-Rodríguez M, Gómez-Pesquera E, Tamayo E, Resino S. Eur J Clin Invest. 2017 Jan;47(1):53-62. doi: 10.1111/eci.12702. Epub 2016 Dec 7. PMID: 27859227 FACTOR DE IMPACTO: 3.086 CUARTIL: Q1 3. Differential analysis of genome-wide methylation and gene expression in mesenchymal stem cells of patients with fractures and osteoarthritis.

Del Real A, Pérez-Campo FM, Fernández AF, Sañudo C, Ibarbia CG, Pérez-Núñez

MI, Criekinge WV, Braspenning M, Alonso MA, Fraga MF, Riancho JA. Epigenetics. 2017

Feb;12(2):113-122. doi: 10.1080/15592294.2016.1271854. Epub 2016 Dec 16. DOI:

10.1080/15592294.2016.1271854.

PMID:27982725 FACTOR DE IMPACTO: 4.774 CUARTIL: Q1 4. Lack of replication of previous autism spectrum disorder GWAS hits in European

populations.

Torrico B, Chiocchetti AG, Bacchelli E, Trabetti E, Hervás A, Franke B, Buitelaar JK, Rommelse

N, Yousaf A, Duketis E, Freitag CM, Caballero-Andaluz R, Martinez-Mir A, Scholl FG, Ribasés

M; ITAN, Battaglia A, Malerba G, Delorme R, Benabou M, Maestrini E, Bourgeron T, Cormand

B, Toma C. Autism Res. 2017 Feb;10(2):202-211. doi: 10.1002/aur.1662. Epub 2016 Jul 15.


5. Risk Model for Colorectal Cancer in Spanish Population Using Environmental and

Genetic Factors: Results from the MCC-Spain study.

Ibáñez-Sanz G, Díez-Villanueva A, Alonso MH, Rodríguez-Moranta F, Pérez-Gómez B,

Bustamante M, Martin V, Llorca J, Amiano P, Ardanaz E, Tardón A, Jiménez-Moleón JJ, Peiró

R, Alguacil J, Navarro C, Guinó E, Binefa G, Fernández-Navarro P, Espinosa A, Dávila-Batista

https://www.ncbi.nlm.nih.gov/pubmed/?term=Del%20Real%20A%5BAuthor%5D&cauthor=true&cauthor_uid=27982725

https://www.ncbi.nlm.nih.gov/pubmed/?term=P%C3%A9rez-Campo%20FM%5BAuthor%5D&cauthor=true&cauthor_uid=27982725


https://www.ncbi.nlm.nih.gov/pubmed/?term=Sa%C3%B1udo%20C%5BAuthor%5D&cauthor=true&cauthor_uid=27982725

https://www.ncbi.nlm.nih.gov/pubmed/?term=Ibarbia%20CG%5BAuthor%5D&cauthor=true&cauthor_uid=27982725

https://www.ncbi.nlm.nih.gov/pubmed/?term=P%C3%A9rez-N%C3%BA%C3%B1ez%20MI%5BAuthor%5D&cauthor=true&cauthor_uid=27982725

https://www.ncbi.nlm.nih.gov/pubmed/?term=P%C3%A9rez-N%C3%BA%C3%B1ez%20MI%5BAuthor%5D&cauthor=true&cauthor_uid=27982725

https://www.ncbi.nlm.nih.gov/pubmed/?term=Criekinge%20WV%5BAuthor%5D&cauthor=true&cauthor_uid=27982725

https://www.ncbi.nlm.nih.gov/pubmed/?term=Braspenning%20M%5BAuthor%5D&cauthor=true&cauthor_uid=27982725

https://www.ncbi.nlm.nih.gov/pubmed/?term=Alonso%20MA%5BAuthor%5D&cauthor=true&cauthor_uid=27982725


https://www.ncbi.nlm.nih.gov/pubmed/?term=Riancho%20JA%5BAuthor%5D&cauthor=true&cauthor_uid=27982725

https://www.ncbi.nlm.nih.gov/pubmed/?term=Differential+analysis+of+genome-wide+methylation+and+gene+expression+in+mesenchymal+stem+cells+of+patients+with+fractures+and+osteoarthritis.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Torrico%20B%5BAuthor%5D&cauthor=true&cauthor_uid=27417655

https://www.ncbi.nlm.nih.gov/pubmed/?term=Chiocchetti%20AG%5BAuthor%5D&cauthor=true&cauthor_uid=27417655

https://www.ncbi.nlm.nih.gov/pubmed/?term=Bacchelli%20E%5BAuthor%5D&cauthor=true&cauthor_uid=27417655

https://www.ncbi.nlm.nih.gov/pubmed/?term=Trabetti%20E%5BAuthor%5D&cauthor=true&cauthor_uid=27417655

https://www.ncbi.nlm.nih.gov/pubmed/?term=Herv%C3%A1s%20A%5BAuthor%5D&cauthor=true&cauthor_uid=27417655

https://www.ncbi.nlm.nih.gov/pubmed/?term=Franke%20B%5BAuthor%5D&cauthor=true&cauthor_uid=27417655

https://www.ncbi.nlm.nih.gov/pubmed/?term=Buitelaar%20JK%5BAuthor%5D&cauthor=true&cauthor_uid=27417655

https://www.ncbi.nlm.nih.gov/pubmed/?term=Rommelse%20N%5BAuthor%5D&cauthor=true&cauthor_uid=27417655

https://www.ncbi.nlm.nih.gov/pubmed/?term=Rommelse%20N%5BAuthor%5D&cauthor=true&cauthor_uid=27417655

https://www.ncbi.nlm.nih.gov/pubmed/?term=Yousaf%20A%5BAuthor%5D&cauthor=true&cauthor_uid=27417655

https://www.ncbi.nlm.nih.gov/pubmed/?term=Duketis%20E%5BAuthor%5D&cauthor=true&cauthor_uid=27417655

https://www.ncbi.nlm.nih.gov/pubmed/?term=Freitag%20CM%5BAuthor%5D&cauthor=true&cauthor_uid=27417655

https://www.ncbi.nlm.nih.gov/pubmed/?term=Caballero-Andaluz%20R%5BAuthor%5D&cauthor=true&cauthor_uid=27417655

https://www.ncbi.nlm.nih.gov/pubmed/?term=Martinez-Mir%20A%5BAuthor%5D&cauthor=true&cauthor_uid=27417655

https://www.ncbi.nlm.nih.gov/pubmed/?term=Scholl%20FG%5BAuthor%5D&cauthor=true&cauthor_uid=27417655



https://www.ncbi.nlm.nih.gov/pubmed/?term=ITAN%5BCorporate%20Author%5D

https://www.ncbi.nlm.nih.gov/pubmed/?term=Battaglia%20A%5BAuthor%5D&cauthor=true&cauthor_uid=27417655

https://www.ncbi.nlm.nih.gov/pubmed/?term=Malerba%20G%5BAuthor%5D&cauthor=true&cauthor_uid=27417655

https://www.ncbi.nlm.nih.gov/pubmed/?term=Delorme%20R%5BAuthor%5D&cauthor=true&cauthor_uid=27417655

https://www.ncbi.nlm.nih.gov/pubmed/?term=Benabou%20M%5BAuthor%5D&cauthor=true&cauthor_uid=27417655

https://www.ncbi.nlm.nih.gov/pubmed/?term=Maestrini%20E%5BAuthor%5D&cauthor=true&cauthor_uid=27417655

https://www.ncbi.nlm.nih.gov/pubmed/?term=Bourgeron%20T%5BAuthor%5D&cauthor=true&cauthor_uid=27417655



https://www.ncbi.nlm.nih.gov/pubmed/?term=Toma%20C%5BAuthor%5D&cauthor=true&cauthor_uid=27417655

https://www.ncbi.nlm.nih.gov/pubmed/?term=Lack+of+replication+of+previous+autism+spectrum+disorder+GWAS+hits+in+European+populations.

141

V, Molina AJ, Palazuelos C, Castaño-Vinyals G, Aragonés N, Kogevinas M, Pollán M, Moreno

V. Sci Rep. 2017 Feb 24;7:43263. doi:10.1038/srep43263. Erratum in: Sci Rep. 2017 May 17;

7:46807. Navarro, Pablo Fernández [corrected to Fernández-Navarro, Pablo]. PubMed Central

PMCID: PMC5324108.


6. Genetic Polymorphisms Associated with Liver Disease Progression in HIV/HCV-Coinfected Patients. Medrano LM, Jimenez-Sousa MA, Fernandez-Rodriguez A, Resino S. AIDS reviews. 2017 Mar, 19(1):3-15. PMID: 28182609 FACTOR DE IMPACTO: 2.068 CUARTIL: Q1 7. Relevance of DNA repair gene polymorphisms to gastric cancer risk and phenotype.

Carrera-Lasfuentes P, Lanas A, Bujanda L, Strunk M, Quintero E, Santolaria S, Benito R,

Sopeña F, Piazuelo E, Thomson C, Pérez-Aisa A, Nicolás-Pérez D, Hijona E, Espinel J, Campo

R, Manzano M, Geijo F, Pellise M, Zaballa M, González-Huix F, Espinós J, Titó L, Barranco L,

D'Amato M, García-González MA. Oncotarget. 2017 May 30;8(22):35848-35862.

doi:10.18632/oncotarget.16261. PubMed Central PMCID: PMC5482622.

PMID: 28415781


8. Rates, distribution and implications of postzygotic mosaic mutations in autism

spectrum disorder.

Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS,

Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C,

Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG,

Freitag CM; Autism Sequencing Consortium, Church GM, Scherer SW, Buxbaum JD, Walsh

CA. Nat Neurosci. 2017 Sep;20(9):1217-1224. doi: 10.1038/nn.4598. Epub 2017 Jul 17.


PMID: 28714951 FACTOR DE IMPACTO: 17.839

142

CUARTIL: Q1

9. Improved classification of leukemic B-cell lymphoproliferative disorders using a

transcriptional and genetic classifier.

Alba Navarro, Guillem Clot, Alejandra Martínez-Trillos, Magda Pinyol, Pedro Jares, Blanca

González-Farré, Daniel Martínez, Nicola Trim, Verónica Fernández, Neus Villamor, Dolors

Colomer, Dolors Costa, Itziar Salaverria, David Martín-Garcia, Wendy Erber, Cristina López,

Sandrine Jayne, Reiner Siebert, Martin J. S. Dyer, Adrian Wiestner, Wyndham H. Wilson, Marta

Aymerich, Armando López-Guillermo, Àlex Sánchez, Elías Campo, Estella Matutes, and Sílvia

Beà. Haematologica. 2017 Sep;102(9):e360-e363. IF: 9.09 D1

PMID: 28522579


10. ADAR1 polymorphisms are related to severity of liver fibrosis in HIV/HCV-coinfected

patients.

Medrano LM, Berenguer J, Jiménez-Sousa MA, Aldámiz-Echevarria T, Tejerina F, Diez C,

Vigón L, Fernández-Rodríguez A, Resino S. Sci Rep. 2017 Oct 10;7(1):12918. doi:

10.1038/s41598-017-12885-4. PubMed Central PMCID: PMC5635123.


11. IL7RA polymorphisms are not associated with AIDS progression.

Medrano LM, Jiménez JL, Jiménez-Sousa MA, Fernández-Rodíguez A, Gutiérrez-Rivas M,

Bellón JM, Blanco JR, Inciarte A, Muñoz-Fernández MÁ, Resino S. Eur J Clin Invest. 2017

Oct;47(10):719-727. doi: 10.1111/eci.12797. Epub 2017 Sep 2.

PMID: 28796293


12.N370S-GBA1 mutation causes lysosomal cholesterol accumulation in Parkinson's

disease.

García-Sanz P, Orgaz L, Bueno-Gil G, Espadas I, Rodríguez-Traver E, Kulisevsky J, Gutierrez

A, Dávila JC, González-Polo RA, Fuentes JM, Mir P, Vicario C, Moratalla R. Mov Disord. 2017

Oct;32(10):1409-1422. doi: 10.1002/mds.27119. Epub 2017 Aug 5.

143

PMID: 28779532


13. Saturation mapping of regions determining resistance to Ascochyta blight and broomrape in fababean using transcriptome-based SNP genotyping. Ocaña-Moral S, Gutiérrez N, Torres AM, Madrid E. Theor Appl Genet. 2017 Nov;130(11):2271-2282. doi: 10.1007/s00122-017-2958-5. Epub 2017 Aug 8. PMID:28791437


14. IL-6 rs1800795 polymorphism is associated with septic shock-related death in patients who underwent major surgery: a preliminary retrospective study. Jiménez-Sousa MA, Medrano LM, Liu P, Fernández-Rodríguez A, Almansa R, Gomez-Sanchez E, Ortega A, Heredia-Rodríguez M, Gómez-Pesquera E, Tamayo E, Resino S. Ann Intensive Care. 2017 Dec;7(1):22. doi: 10.1186/s13613-017-0247-8. Epub 2017 Feb 28. PMID:28247301 FACTOR DE IMPACTO: 3.656 CUARTIL: Q2

15. CXCL9-11 polymorphisms are associated with liver fibrosis in patients with chronic

hepatitis C: a cross-sectional study.

Jiménez-Sousa MÁ, Gómez-Moreno AZ, Pineda-Tenor D, Medrano LM, Sánchez-Ruano JJ,

Fernández-Rodríguez A, Artaza-Varasa T, Saura-Montalban J, Vázquez-Morón S, Ryan P,

Resino S. Clin Transl Med. 2017 Dec;6(1):26. doi: 10.1186/s40169-017-0156-3. Epub 2017 Jul

28. PubMed Central PMCID: PMC5533694.


PUBLICACIONES 2018

1. Association of CD14 rs2569190 polymorphism with mortality in shock septic patients who underwent major cardiac or abdominal surgery: A retrospective study.







144

Jiménez-Sousa MÁ, Liu P, Medrano LM, Fernández-Rodríguez A, Almansa R, Gómez-Sánchez E, Rico L, Lorenzo M, Fadrique A, Tamayo E, Resino S. Sci Rep. 2018 Feb 9;8(1):2698. doi: 10.1038/s41598-018-20766-7. PMID: 29426837 FACTOR DE IMPACTO: 4.259 CUARTIL: Q1

2. The CD14 (-159 C/T) SNP is associated with sCD14 levels and allergic asthma, but not with CD14 expression on monocytes. Nieto-Fontarigo JJ, Salgado FJ, San-José ME, Cruz MJ, Casas-Fernández A,, Gómez-Conde MJ, Valdés-Cuadrado L, García-González MÁ, Arias P, Nogueira M,, González-Barcala FJ. Sci Rep. 2018 Mar 7; 8(1):4147. doi: 10.1038/s41598-018-20483-1. PubMed Central PMCID: PMC5841440. PMID: 29515128 FACTOR DE IMPACTO: 4.259 CUARTIL: Q1 3. Cholesterol and multilamellar bodies: Lysosomal dysfunction in GBA-Parkinson disease. García-Sanz P, Orgaz L, Fuentes JM, Vicario C, Moratalla R. 2018;14(4):717-718. Autophagy. 2018;14(4):717-718.doi: 10.1080/15548627.2018.1427396. Epub 2018 Mar 11. PubMed Central PMCID: PMC5959320. PMID: 29368986 FACTOR DE IMPACTO: 11.100 CUARTIL: Q1 4. Genetic susceptibility to invasive pneumococcal disease. Sangil A, Arranz MJ, Güerri-Fernández R, Pérez M, Monzón H, Payeras A, Andrés M, Torviso J, Ibañez L, Garau J, Calbo E. Infect Genet Evol. 2018 Apr;59:126-131. doi: 10.1016/j.meegid.2018.01.024. Epub 2018 Jan 31. PMID: 29407193 FACTOR DE IMPACTO: 2.26 CUARTIL: Q1

5. The IL7RA rs6897932 polymorphism is associated with progression of liver fibrosis in patients with chronic hepatitis C: Repeated measurements design. Jiménez-Sousa MÁ, Gómez-Moreno AZ, Pineda-Tenor D, Medrano LM, Sánchez-Ruano

https://www.ncbi.nlm.nih.gov/pubmed/?term=Sangil%20A%5BAuthor%5D&cauthor=true&cauthor_uid=29407193

https://www.ncbi.nlm.nih.gov/pubmed/?term=Arranz%20MJ%5BAuthor%5D&cauthor=true&cauthor_uid=29407193

https://www.ncbi.nlm.nih.gov/pubmed/?term=G%C3%BCerri-Fern%C3%A1ndez%20R%5BAuthor%5D&cauthor=true&cauthor_uid=29407193

https://www.ncbi.nlm.nih.gov/pubmed/?term=P%C3%A9rez%20M%5BAuthor%5D&cauthor=true&cauthor_uid=29407193

https://www.ncbi.nlm.nih.gov/pubmed/?term=Monz%C3%B3n%20H%5BAuthor%5D&cauthor=true&cauthor_uid=29407193

https://www.ncbi.nlm.nih.gov/pubmed/?term=Payeras%20A%5BAuthor%5D&cauthor=true&cauthor_uid=29407193

https://www.ncbi.nlm.nih.gov/pubmed/?term=Andr%C3%A9s%20M%5BAuthor%5D&cauthor=true&cauthor_uid=29407193

https://www.ncbi.nlm.nih.gov/pubmed/?term=Torviso%20J%5BAuthor%5D&cauthor=true&cauthor_uid=29407193

https://www.ncbi.nlm.nih.gov/pubmed/?term=Torviso%20J%5BAuthor%5D&cauthor=true&cauthor_uid=29407193

https://www.ncbi.nlm.nih.gov/pubmed/?term=Iba%C3%B1ez%20L%5BAuthor%5D&cauthor=true&cauthor_uid=29407193

https://www.ncbi.nlm.nih.gov/pubmed/?term=Garau%20J%5BAuthor%5D&cauthor=true&cauthor_uid=29407193

https://www.ncbi.nlm.nih.gov/pubmed/?term=Calbo%20E%5BAuthor%5D&cauthor=true&cauthor_uid=29407193


145

JJ, Fernández-Rodríguez A, Artaza-Varasa T, Saura-Montalbán J, Vázquez-Morón S, Ryan P, Resino S. PLoS One. 2018 May 9;13(5): e0197115. doi: 10.1371/journal.pone.0197115. eCollection 2018. PubMed Central PMCID: PMC5942816. PMID: 29742149 FACTOR DE IMPACTO: 2.806 CUARTIL: Q1

6. PNPLA3 rs738409 polymorphism is associated with liver fibrosis progression in

patients with chronic hepatitis C: A repeated measures study.

Jiménez-Sousa MÁ, Gómez-Moreno AZ, Pineda-Tenor D, Sánchez-Ruano JJ, Fernández-

Rodríguez A, Artaza-Varasa T, Gómez-Sanz A, Martín-Vicente M, Vázquez-Morón S, Resino S.

J Clin Virol. 2018 Jun; 103:71-74. doi: 10.1016/j.jcv.2018.04.008. Epub 2018 Apr 12.

PMID: 29674183

FACTOR DE IMPACTO: 3.101 CUARTIL: Q1 7. Genetics of growth, carcass and meat quality in rabbits. Blasco A, Nagy I, Hernández P. Meat Sci. 2018 Jun 26;145:178-185. doi:

10.1016/j.meatsci.2018.06.030. [Epub ahead of print] Review.

PMID: 29982071


8. Tracking age-correlated DNA methylation markers in the young.

Freire-Aradas A, Phillips C, Girón-Santamaría L, Mosquera-Miguel A, Gómez-Tato A, Casares

de Cal MÁ, Álvarez-Dios J, Lareu MV. Forensic Sci Int Genet. 2018 Jun 13;36:50-59. doi:

10.1016/j.fsigen.2018.06.011. [Epub ahead of print]

PMID: 29933125


9. Relationships between substance abuse/dependence and psychiatric disorders based on polygenic scores.

146

Gurriarán X, Rodríguez-López J, Flórez G, Pereiro C, Fernández JM, Fariñas E, Estévez V,

Arrojo M, Costas J; GenPol Study Group. Genes Brain Behav. 2018 Jul 4:e12504. doi:

10.1111/gbb.12504. [Epub ahead of print].

PMID: 29974660

FACTOR DE IMPACTO: 3.496 CUARTIL: Q1 10. A gene signature that distinguishes conventional and leukemic nonnodal mantle cell lymphoma helps predict outcome. Guillem Clot, Pedro Jares, Eva Giné, Alba Navarro, Cristina Royo, Magda Pinyol, David Martín-Garcia, Santiago Demajo, Blanca Espinet, Antonio Salar, Ana Ferrer, Ana Muntañola, Marta Aymerich, Hilka Rauert-Wunderlich, Elaine S Jaffe, Joseph Connors, Randy D Gascoyne, Jan Delabie, Armando López-Guillermo, German K Ott, George Wright, Louis Michael Staudt, Andreas Rosenwald, David W Scott, Lisa M Rimsza, Sílvia Beà, and Elias Campo. Blood. 2018 Jul 26;132(4):413-422. PMID:29769262


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