welcome [ct1.medstarhealth.org] · 2016-05-05 · •cancer is a complex disease •some risk...
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WELCOME
Taking Care of Your Health
April 30, 8 am to noon
Cancer: Know Your Risk
Emily Kuchinsky, MS, CGC, Certified Genetic Counselor
Sporadic Cancer
Lifetime Probability- Women
Family Cluster
Risk factors for breast cancer
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Hereditary Cancer
• 5-10% of all cancer• Young age of onset• Bilateral or more than one cancer• Cancer in many generations
Br 45
5-10% of Breast Cancer is
Inherited
BRCA 1 and 2
Breast Cancer
The names BRCA1 andBRCA2 stand for breast cancer susceptibility gene 1 and breast cancer susceptibility gene 2, respectively.
Genetic Mutations
May 5, 2016 11
Earlier Age of Cancer Onset in
Hereditary Cancer
Cancer
May 5, 2016 12
Autosomal Dominant Inheritance
• If parent carries mutation, each of their
children would have a 50% chance to
inherit the same mutation
BRCA1-Associated Cancers:
Lifetime Risk
Possible increased risk of other cancers (eg: prostate)
Breast cancer 50%-85% (often early age at onset)
Second primary breast cancer 40%-60%
Ovarian cancer 15%-45%
BRCA2-Associated Cancers:
Lifetime Risk
Increased risk of prostate, melanoma, and
pancreatic cancers (magnitude unknown)
breast cancer (40%-85%)
ovarian cancer (10%-25%)
male breast cancer (5-7%)
Red Flags for Hereditary Breast
and Ovarian Cancer Syndrome• Breast Cancer prior to age 50 or premenopausal• 2 or more family members with breast and/or ovarian
cancer• Personal History of Ovarian Cancer• Personal History of breast cancer in both breasts or a
second breast cancer• Triple Negative Breast Cancer• Male Breast Cancer• Ashkenazi Jewish ancestry• Pancreatic Cancer along with Breast Cancer
Surveillance for Female BRCA
Carriers
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Procedure Age to Begin Frequency
Breast Cancer Surveillance
Breast self-exam training
18 yrs
Clinical breast exam
25 yrs Every 6-12 months
Mammography 25 yrs Yearly
MRI 25 yrs Yearly
Ovarian Cancer surveillance
Pelvic exam 35 yrs in patients not electing RRBSO
Every 6 months
TVUS and CA-125 35 years in patients not electing RRBSO
Every 6 months
Beyond BRCA1/2
www.mayo.edu
Change in Testing Paradigm
• 2012 Next Generation Screening/Launch of Cancer Panels
• 2013 Angelina Jolie disclosed BRCA status
• 2013 Supreme Court Decision
Benefits and Limitations of Panel Testing
• Cost
• One sample submission
• Higher likelihood of receiving positive result
• Possible Change in Medical Management
• Incidental Findings
• Lack of data on risk-benefit ratio for moderate penetrance genes
• Higher likelihood of receiving VUS
• Longer TAT
Benefits Limitations
Family History Suggestive of HNPCC
dx. 55
Colon
Endometrial
dx.
65
dx. 49
dx. 42
dx. 62
Immunohistochemistry
• Identify MMR proteins
• Normally present
• If protein is absent, gene is not being expressed (mutation or methylation)
• Helps direct gene testing by predicting likely involved gene
• MLH1/PMS2
• MSH2/MSH6
MSH2MLH1
MSH6PMS2
Courtesy H. Hampel
Germline MLH1 mutationMLH1 MSH2
Screening and Management
• Increased frequency of colonoscopy
– Every 1-2 years beginning in the 20s
“May consider”: at physician’s discretion due to lack of known efficacy:
• Annual transvaginal ultrasound
• Annual Endometrial biopsy
• CA-125 blood test
• Patient education
NCCN 2012
Screening and Management,
con’d
• May consider:
– EGD for gastric and small bowel cancers,
beginning in 30s, every 3-5 yrs
– Urinalysis, beginning at 25yr
– Annual physical exam
NCCN 2015
Genetic Consult
• Detailed Family History
• Discuss benefits and limitations of genetic
testing
• Sample collection
• Results discussion
Testing may:
Clarify the risk for cancer
Provide options for medical management
Have implications for family members
GINA
• Genetic Information Nondiscrimination
Act of 2008 (GINA)
• Covers: health insurers and employers
• Does NOT cover: life insurance, disability
insurance and long-term care insurance
Options for Individuals with Mutations
Positive test result
Increased cancer screening
Non-surgical prevention
Risk-reducing surgery
Limitations of Testing
• Does not detect all mutations; may not rule out hereditary risk
• Effectiveness of some early detection measures is not proven
• Continued risk of sporadic cancer
How/if would use the information
Speak with family
Identify best person to test first
Check on insurance coverage
How to decide about being tested
Summary
• Cancer is a complex disease
• Some risk factors we cannot change
• Many risk factors can be reduced
• The more you know about your risks, the more
you can take control of your health
• Know your family history
• Discuss your cancer risks with your doctor!