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 May 5, 2016 6
Hereditary Cancer Br 45 5-10% of all cancer Young age of onset Bilateral or more than one cancer Cancer in many generations
5-10% of Breast Cancer is Inherited
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
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 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)
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)
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 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-125 35 yrs in patients not electing RRBSO 35 years in patients not electing RRBSO Every 6 months Every 6 months May 5, 2016 18
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 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
Family History Suggestive of HNPCC dx. 65 dx. 55 dx. 62 dx. 49 Colon dx. 42 Endometrial
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
Germline MLH1 mutation MLH1 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, 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
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 to decide about being tested How/if would use the information Speak with family Identify best person to test first Check on insurance coverage
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!
Contact Information Emily Kuchinsky, MS 443-777-7656 Emily.Kuchinsky@medstar.net May 5, 2016 37