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Genetics: For this Generation and the Next PowerPoint Presentation

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Description : Check out this medical presentation on Familial Pancreatic Cancer, which is titled "Genetics: For this Generation and the Next", to know how genetics can help us identify the people who have risks for disease that go far above the general risks.

Tags : Familial Pancreatic Cancer, Genetics, risks, disease

Published on : May 18, 2021 | Views : 2414 | Downloads : 3

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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
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Common Diseases Cancer Heart disease Diabetes Hypertension Stroke Alzheimer's Arthritis Osteoporosis
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Common Risk Factors Age Family history Ethnicity Lifestyle Diet Alcohol Smoking
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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
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Genetic information is key
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What is a Gene?
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DAD MOM
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Cancer and Genetics
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Fortune Cookie Tip #1 Family history was the first genetic test
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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
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Colon, 72 Sporadic Family History Risk for cancer is AVERAGE
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Familial Family History Prostate, 75 Lung, 65 coal miner Stomach, 55 H. pylori Liver, 50 alcohol abuse Cervix HPV, smoker Lung, 58 smoker Basal Cell sun exposure Risk for cancer is MODERATE
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Hereditary Family History Breast, 55 Ovarian, 44 Breast, 34 Prostate, 59 Breast, 50 Risk for cancer is HIGH
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Fortune Cookie Tip #2 Don’t forget to look at both sides of the family!
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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
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Family history of breast cancer? Who is the best person to test? New yellow apple Red apple tree growing one yellow apple Courtesy of Kallie Weinan, MS, CGC Red apple tree growing red apples
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Fortune Cookie Tip #3 When searching for something rare, start the search with the most likely target.
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BRCA1 + BRCA1 - Does not want testing BRCA1 + BRCA1 -
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Cancer Risks with HBOC
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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)
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Guess what?
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You won’t be seeing many tests for just BRCA1/2 anymore
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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
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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
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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
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NGS Test Result Positive for a gene mutation CHEK2 Variants of Uncertain Significance BRCA 2 STK11
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Fortune Cookie Tip #4 Sometimes, in our quest for answers, we end up with more questions
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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
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NGS Test Result Positive for a gene mutation CHEK2 Variants of Uncertain Significance BRCA 2 STK11
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N=398
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Rates of Uncertain Variants 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.
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Isn’t it just a blood test? Positive results with limited information Inconclusive results Results that don’t “fit” Worry/anxiety
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Consider This… Unclear results Limited data Limited usefulness Changes in technology BENEFITS Anxiety/ distress Privacy Appropriate follow-up? Clarification of risk Guidance for medical management Information for family RISKS LIMITATIONS
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What can you do? Know your family history Educate your family about its history Talk to your doctor or a genetic counselor
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What is a Genetic Counselor?
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I am a translator
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NSGC: www.nsgc.org
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Questions? Andrea Forman, MS, LCGC Genetic Counselor Department of Clinical Genetics, Fox Chase Cancer Center 1-877-627-9684 www.fccc.edu/rap rapinfo@fccc.edu