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Genetics: For this Generation and the Next Andrea Forman, MS, LCGC Fox Chase Cancer Center Risk Assessment Program Department of Clinical Genetics Common Diseases • Cancer • Heart disease • Diabetes • Hypertension • Stroke • Alzheimer's • Arthritis • Osteoporosis Common Risk Factors • Age • Family history • Ethnicity • Lifestyle • Diet • Alcohol • Smoking Top 5 Reasons to Know Your Family History 5. Family recipes should be kept secret — family medical history should not. 4. Knowing your risk might save your life. 3. It’s free and you don’t have to leave home. 2. It’s a priceless gift to leave to your children. 1. Because every family has a story, but not every family has YOUR story. https://www.yahoo.com/health/10-reasons-you-should-dig-into-your-family-medical-118232923367.html Genetic information is key What is a Gene? DAD MOM Family History Chance Lifestyle Personal Cancer Risk Aging Genetics Environment Cancer and Genetics Percentage of cancers that are due to inherited genetic risk i.e. 1 out of 10 Fortune Cookie Tip #1 Family history was the first genetic test Clues: Genetic Risk for Cancer • YOUNG – Breast <45, Colon <50 • RARE – Examples include Ovarian, Male Breast, Pancreatic • MULTIPLE – Two or more different cancers in the same person • FAMILY – Two or more family members with the same or related types of cancer. • Breast/Ovary. Breast/Thyroid/Uterine. Breast/Sarcoma/Brain Sporadic Family History Colon, 72 Risk for cancer is AVERAGE Familial Family History Lung, 65 coal miner Basal Cell sun exposure Liver, 50 alcohol abuse Stomach, 55 H. pylori Prostate, 75 Risk for cancer is MODERATE Lung, 58 smoker Cervix HPV, smoker Hereditary Family History Breast, 55 Prostate, 59 Breast, 34 Risk for cancer is HIGH Ovarian, 44 Breast, 50 Fortune Cookie Tip #2 Don’t forget to look at both sides of the family! Why would I want to know? • Possible risk of another, new cancer • Risks to your children • Risks to other family members • Screening and prevention are often available and may save a life Family history of breast cancer? Who is the best person to test? New yellow apple Red apple tree growing red apples Courtesy of Kallie Weinan, MS, CGC Red apple tree growing one yellow apple Fortune Cookie Tip #3 When searching for something rare, start the search with the most likely target. BRCA1 - BRCA1 - BRCA1 + Does not want testing BRCA1 + Cancer Risks with HBOC 100% 90% 80% 70% 60% 50% 40% 30% 20% 10% 0% Breast Ovary Prostate (male) Breast (male) Gen. Population BRCA Carrier Pancreas What Can You Do? Increased screening • Start Earlier – 25yo for breast screening • More Often – Alternating imaging every 6 months • More Aggressive – Mammogram + Breast MRI Prevention • Medication – Tamoxifen (breast cancer risk) – Birth control pills (ovarian cancer risk) • Surgery – Risk reducing mastectomy – Salpingo-oophorectomy (removal of ovaries and fallopian tubes) Guess what? You won’t be seeing many tests for just BRCA1/2 anymore Multi-Gene (NGS) Panels • Genetic tests to look at dozens of genes related to cancer • Similar cost and turn around time as gene specific testing • Higher risk of uncertain results NGS Panels- Breast Walsh et. al. 2013 (ASHG Platform Presentation) •800 families with negative BRCA1/2 testing – 206 tested positive with NGS BROCA panel (26%) •Of the 26% with a new positive results –39% (80/206) had BRCA1/2 mutations –37% carried mutations in CHEK2, PALB2, or TP53 –20% carried mutations in 10 less characterized genes Labs offering BRCA1/2 Labs offering NGS panels Different NGS tests that include BRCA1/2 Genetic counselors pulling their hair out Ms. Smith • 46 year old woman with a newly diagnosed left breast cancer – ER/PR+ invasive ductal carcinoma • Referred to Risk Assessment as patient wants risk estimate to help her make a decision about bilateral mastectomy NGS Test Result Positive for a gene mutation • CHEK2 Variants of Uncertain Significance • BRCA 2 • STK11 Fortune Cookie Tip #4 Sometimes, in our quest for answers, we end up with more questions Moderate Risk Genes • Cancer risks may not be very high – How high does risk need to be before we pursue surgery or medications? • Cancer risks may be unclear – How do we make medical decisions when we don’t know the risks? • We’re still learning – The recommendations you get today may be different in 5 years NGS Test Result Positive for a gene mutation • CHEK2 Variants of Uncertain Significance • BRCA 2 • STK11 N=398 Rates of Uncertain Variants Decline in Rate of BRCA1/2 Variants of Uncertain Significance 40.0% 35.0% 30.0% All Patients Middle Eastern 25.0% Asian African 20.0% Native American 15.0% Latin American Central European 10.0% Western European 5.0% 0.0% 2002 2006 2008 2012 Eggington et. al. Current Variant of Uncertain Significance Rates in BRCA1/2 and Lynch Syndrome Testing (MLH1, MSH2, MSH6, PMS2, EPCAM), March 2012, ACMG Poster Presentation. Isn’t it just a blood test? • Positive results with limited information • Inconclusive results • Results that don’t “fit” • Worry/anxiety Consider This… RISKS BENEFITS LIMITATIONS • Anxiety/ distress • Privacy • Appropriate follow-up? • Clarification of risk • Guidance for medical management • Information for family • Unclear results • Limited data • Limited usefulness • Changes in technology What can you do? • Know your family history • Educate your family about its history • Talk to your doctor or a genetic counselor What is a Genetic Counselor? I am a translator NSGC: www.nsgc.org Questions? Andrea Forman, MS, LCGC Genetic Counselor Department of Clinical Genetics, Fox Chase Cancer Center 1-877-627-9684 www.fccc.edu/rap [email protected]