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Genetics and Ovarian Cancer

Genetics and Ovarian Cancer. June 16, 2015 Ovarian Cancer Alliance of Oregon and SW Washington Becky Clark, MS, CGC Genetic Counselor. Risk for Ovarian cancer. ~20% of ovarian cancers are related to an inherited cancer syndrome ~80% of ovarian cancers are sporadic. Cancer development.

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Genetics and Ovarian Cancer

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  1. Genetics and Ovarian Cancer June 16, 2015 Ovarian Cancer Alliance of Oregon and SW Washington Becky Clark, MS, CGC Genetic Counselor

  2. Risk for Ovarian cancer • ~20% of ovarian cancers are related to an inherited cancer syndrome • ~80% of ovarian cancers are sporadic

  3. Cancer development • Normal cells • Tumor develops • One cell at risk • First mutation • Second mutation

  4. Autosomal Dominant Inheritance • Parents • Children • 50% chance of inheriting gene change • 50% chance of inheriting unchanged gene

  5. Gene mutations increasing risk for ovarian cancer • Hereditary breast and ovarian cancer syndrome • BRCA1, BRCA2 • Lynch syndrome • MLH1, MSH2, MSH6, PMS2, EPCAM • BARD1 • BRIP1 • CDH1 • CHEK2 • MRE11A • MUTYH • NBN • PALB2 • RAD50 • RAD51C • RAD51D • STK11 • TP53

  6. Goals of genetic testing • Understand cause of cancer in family • Surveillance and prevention of other cancers • Allow unaffected family members to test • Surveillance • Prevention options • Family planning

  7. Hereditary breast and ovarian cancer syndrome: BRCA1 and BRCA2 • Prevalence in the general population: ~1 in 400 • Prevalence in the Ashkenazi Jewish population: ~ 1 in 40 • Consider when history includes one of the following: • Ovarian cancer at any age • Breast cancer at or before age 50 • Triple negative breast cancer at or before age 60 • Two primary breast cancers in the same person or on the same side of family • Breast and ovarian cancer in the same person • ≥3 relatives with breast, ovarian, pancreatic cancer and/or aggressive prostate cancer on the same side of family • Ashkenazi Jewish Ancestry and a personal or family history of breast, ovarian or pancreatic cancer • Male breast cancer

  8. BRCA mutation cancer risks • Increased risk for a second primary breast cancer • Reports of increased risk for melanoma

  9. BRCA family tree

  10. Lynch syndrome: MLH1, MSH2, MSH6, PMS2, EPCAM • Consider when history includes one of the following: • Colon cancer before age 50 • Uterine cancer before age 50 • ≥ 2 Lynch cancers in the same person • ≥ 2 relatives with a Lynch cancer, one <50 years old • ≥ 3 relatives with a Lynch cancer at any age • Abnormal MSI and/or IHC tumor test result • Performed on colon and uterine tumors

  11. Lynch syndrome cancer risks • Also at increased risk:Small intestine, biliary system (pancreas, liver, bile duct), brain, skin, and urinary tract (kidneys, ureters, bladder, urethra)

  12. Lynch family tree

  13. Genetic testing for ovarian cancer • Ashkenazi Jewish? Start with the three founder mutations in BRCA1 and BRCA2 • Testing to include BRCA1, BRCA2, and Lynch syndrome • Recent availability of panel tests: covers BRCA1, BRCA2, Lynch syndrome, and other more rare, lower risk genes • Single site testing for family members if relative tests positive

  14. Insurance coverage • Covered benefit if medical criteria is met (NCCN criteria). Some insurance have their own criteria. • Always pre-authorized by the genetic testing lab • Out of pocket cost depends on your insurance plan • Discounted prices for those without insurance coverage

  15. Laws that protect against genetic discrimination in health insurance and employment • HIPAA: Health Insurance Portability and Accountability Act • Federal law • GINA (Genetic Information Non-Discrimination Act) 2008 • Applies to family history and genetic test results • Does not cover life insurance, long-term disability • State laws • Oregon law DOES cover life insurance and long-term disability • Applies to genetic test results, not family history

  16. Types of results from genetic testing • Negative: no mutation detected • Base cancer risks on family history • Positive: mutation detected that causes an increased risk for cancer • Follow management guidelines for care • Offer genetic testing to other family members • Variant of uncertain significance (VUS): • Change identified, but not enough evidence to determine if disease causing or benign • Identified in ~10% of tests • Cannot test family members. Exception: Family Studies Programs • VUS will be reclassified over time

  17. Thinking about the future • DNA banking • Store DNA at a facility for future testing • Fertility preservation and family planning • Freezing eggs • Pre-implantation Genetic Diagnosis (PGD) • Prenatal testing (amniocentesis)

  18. Contact • Compass Oncology GREAT Program • Genetic Risk Evaluation & Testing • Lucy Langer, MD, MSHS • Becky Clark, MS, CGC • Lisa Clark, FNP, AOCNP, APNG • Phone: 503-297-7403

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