WELCOME. Taking Care of Your Health. April 30, 8 am to noon
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1 WELCOME Taking Care of Your Health April 30, 8 am to noon
2 Cancer: Know Your Risk Emily Kuchinsky, MS, CGC, Certified Genetic Counselor
3 Sporadic Cancer
4 Lifetime Probability- Women
5 Family Cluster
6 Risk factors for breast cancer May 5,
7 Hereditary Cancer Br % of all cancer Young age of onset Bilateral or more than one cancer Cancer in many generations
8 5-10% of Breast Cancer is Inherited
9 BRCA 1 and 2 The names BRCA1 and BRCA2 stand for breast cancer susceptibility gene 1 and breast cancer susceptibility gene 2, respectively. Breast Cancer
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11 Genetic Mutations May 5,
12 Earlier Age of Cancer Onset in Hereditary Cancer Cancer May 5,
13 Autosomal Dominant Inheritance If parent carries mutation, each of their children would have a 50% chance to inherit the same mutation
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15 BRCA1-Associated Cancers: Lifetime Risk Breast cancer 50%-85% (often early age at onset) Second primary breast cancer 40%-60% Ovarian cancer 15%-45% Possible increased risk of other cancers (eg: prostate)
16 BRCA2-Associated Cancers: Lifetime Risk breast cancer (40%-85%) ovarian cancer (10%-25%) male breast cancer (5-7%) Increased risk of prostate, melanoma, and pancreatic cancers (magnitude unknown)
17 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
18 Surveillance for Female BRCA Breast Cancer Surveillance Ovarian Cancer surveillance Carriers Procedure Age to Begin Frequency Breast self-exam training Clinical breast exam 18 yrs 25 yrs Every 6-12 months Mammography 25 yrs Yearly MRI 25 yrs Yearly Pelvic exam TVUS and CA yrs in patients not electing RRBSO 35 years in patients not electing RRBSO Every 6 months Every 6 months May 5,
19 Beyond BRCA1/2
20 Change in Testing Paradigm 2012 Next Generation Screening/Launch of Cancer Panels 2013 Angelina Jolie disclosed BRCA status 2013 Supreme Court Decision
21 Benefits and Limitations of Panel Testing Benefits Cost One sample submission Higher likelihood of receiving positive result Possible Change in Medical Management Incidental Findings Limitations Lack of data on risk-benefit ratio for moderate penetrance genes Higher likelihood of receiving VUS Longer TAT
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25 Family History Suggestive of HNPCC dx. 65 dx. 55 dx. 62 dx. 49 Colon dx. 42 Endometrial
26 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 MLH1 MSH2 PMS2 MSH6 Courtesy H. Hampel
27 Germline MLH1 mutation MLH1 MSH2
28 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
29 Screening and Management, May consider: con d EGD for gastric and small bowel cancers, beginning in 30s, every 3-5 yrs Urinalysis, beginning at 25yr Annual physical exam NCCN 2015
30 Genetic Consult Detailed Family History Discuss benefits and limitations of genetic testing Sample collection Results discussion
31 Testing may: Clarify the risk for cancer Provide options for medical management Have implications for family members
32 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
33 Options for Individuals with Mutations Positive test result Increased cancer screening Non-surgical prevention Risk-reducing surgery
34 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
35 How to decide about being tested How/if would use the information Speak with family Identify best person to test first Check on insurance coverage
36 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!
37 Contact Information Emily Kuchinsky, MS May 5,
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