Komen Webinar on Genetics and Breast Cancer

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Eric Fowler, MS, CGC, Certified/Licensed Genetic Counselor, manager of Genetic Counseling at Cancer Treatment Centers of America(r) presents "Know Your Risk: Understanding Genetics and Breast Cancer." The webinar presentation addresses genetics and genetic counseling basics, factors that impact breast cancer risk, family history risk, hereditary breast cancer and the pros and cons of genetic testing.

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Komen Webinar on Genetics and Breast Cancer

  1. 1. Know Your Risk: Understanding Genetics and Breast Cancer Eric Fowler, MS, C/LGC Certified/Licensed Genetic Counselor Cancer Treatment Centers of America® © 2013 Rising Tide
  2. 2. Welcome & Introduction Eric Fowler, MS, C/LGC Certified/Licensed Genetic Counselor, Manager of Genetic Counseling Cancer Treatment Centers of America® © 2013 Rising Tide
  3. 3. Know Your Risk: Understanding Genetics and Breast Cancer Eric Fowler, MS, C/LGC Certified/Licensed Genetic Counselor Cancer Treatment Centers of America® © 2013 Rising Tide
  4. 4. Topics for Discussion • Genetic Counseling • Factors Impacting Breast Cancer Risks • Family History and Breast Cancer Risks • General Genetics Information • Hereditary Breast Cancer • Genetic Testing • Case Example • Summary © 2013 Rising Tide
  5. 5. What is Genetic Counseling? © 2013 Rising Tide
  6. 6. Genetic Counseling - Definition • Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. Source: National Society of Genetic Counselors, 2005 © 2013 Rising Tide
  7. 7. Genetic Counseling - Process • Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence. • Education about inheritance, testing, management, prevention, resources and research. • Counseling to promote informed choices and adaptation to the risk or condition. Source: National Society of Genetic Counselors, 2005 © 2013 Rising Tide
  8. 8. What factors impact breast cancer risks? © 2013 Rising Tide
  9. 9. Family History Lifestyle Breast Cancer Risk Environment Genes © 2013 Rising Tide
  10. 10. Factors Impacting Breast Cancer Risks • Age • Benign breast disease • Family history • Dietary factors • Reproductive factors • Lifestyle • Hormone replacement therapy © 2013 Rising Tide
  11. 11. Family History and Breast Cancer Risks © 2013 Rising Tide
  12. 12. Breast Cancer Risks Increase When: • Closer relatives are diagnosed with breast cancer. • Relatives are younger when diagnosed with breast cancer. • Multiple relatives have breast cancer and or ovarian cancer. © 2013 Rising Tide
  13. 13. Impact of Family History on Breast Cancer Risks* • Grandmother with breast cancer: risk increased by a factor of 1.27 times average risk. • Mother, father or sister with breast cancer: risk increased by a factor of 1.73-1.8 times average risk. • Two first-degree relatives with breast cancer: risk increased by a factor of 2.8 times average risk. Study adjusted for age, age 1st period, region, socioeconomic status, number of children, and age at first birth *these risk comparisons are estimates and not applicable to any one person – other factors influence these risks, and risks are underestimated if there is a hereditary cancer risk in a family Bevier M et al. Breast Cancer Res Treat 2012 Apr;132(2):723-8 © 2013 Rising Tide
  14. 14. General Genetics Information © 2013 Rising Tide
  15. 15. What is DNA? • DNA, or deoxyribonucleic acid, is the genetic material in humans and almost all other organisms. • DNA contains genetic instructions and is the blueprint for how our bodies develop, appear, and function. Source: http://ghr.nlm.nih.gov/ © 2013 Rising Tide
  16. 16. Chromosomes, DNA and Genes © 2013 Rising Tide
  17. 17. What are mutations? • Mutations are alterations, or changes, in genes. • Mutations in certain genes are associated with cancer. • Mutations can be inherited from a parent (germline) or acquired (somatic) after conception. Source: http://ghr.nlm.nih.gov © 2013 Rising Tide
  18. 18. Cancer Arises from Gene Mutations © 2013 Rising Tide
  19. 19. All cancer is genetic, but most cancer is NOT inherited. © 2013 Rising Tide
  20. 20. Hereditary Breast Cancer © 2013 Rising Tide
  21. 21. How much breast and ovarian cancer is hereditary? © 2013 Rising Tide
  22. 22. Personal and Family History Clues that Increase the Chances of a BRCA Mutation • Early-onset breast cancer (under age 50) • Multiple relatives with early onset breast cancer • Ovarian cancer (with family history of breast or ovarian cancer) • Breast and ovarian cancer in the same woman • Bilateral breast cancer • Male breast cancer • Ashkenazi Jewish heritage © 2013 Rising Tide
  23. 23. Hereditary Breast Ovarian Syndrome (HBOC) • • • • BRCA1 and BRCA2 – DNA repair genes About 50% of hereditary breast cancer About 90% of hereditary breast / ovarian cancer Incidence is approximately 1/500 – 1/800 among those of European, African and Asian descent • Incidence is 1/40 among Ashkenazi Jews (Jews of Eastern European descent) © 2013 Rising Tide
  24. 24. BRCA1-Associated Cancers: Lifetime Risk Breast cancer 56%-85% (often early age at onset) Second primary breast cancer 40%-65% Ovarian cancer 30%-45% Male breast and prostate cancer Increased risk of other cancers - pancreatic Adapted from ASCO Genetics Slide Set 2007 © 2013 Rising Tide
  25. 25. BRCA2-Associated Cancers: Lifetime Risk breast cancer (56%-85%) male breast cancer (6-8%) ovarian cancer (10%-30%) Increased risk of prostate, pancreatic cancers and possibly others Adapted from ASCO Genetics Slide Set 2007 © 2013 Rising Tide
  26. 26. Clinical Management of BRCA1 and BRCA Mutation-Positive Patients © 2013 Rising Tide
  27. 27. Li Fraumeni Syndrome • Caused by mutations in the p53 gene • ~50% risk for breast cancer by age 60 • >90% risk for cancer by age 50 with childhood cancers observed • Increased risks for cancers of the breast, brain, blood (leukemia), connective tissue (sarcoma) and others • 5-7% of women with breast cancer at or under age 35 who test BRCA1/2 negative have p53 mutations © 2013 Rising Tide
  28. 28. Cowden Syndrome • Caused by mutations in the PTEN gene • Lifetime risk for breast cancer up to 85% • Increased risks for cancers of the breast, thyroid, uterus, kidneys and others • Includes non-malignant features such as larger head circumference, and benign growths in the breast, uterus, thyroid, mouth and skin © 2013 Rising Tide
  29. 29. Genetic Testing © 2013 Rising Tide
  30. 30. Genetic Testing Basics • Genetic testing is usually performed on blood, saliva or mouthwash samples. • Most insurance companies cover the cost of genetic testing if established criteria are met. • Test results take 2-4 weeks up to 4 months to be reported. • Results can be inconclusive – meaning a genetic alteration of unknown significance is found. © 2013 Rising Tide
  31. 31. Benefits of Genetic Testing • Potential for a more accurate picture of cancer risk • Decision making – – – – Lifestyle Chemoprevention Cancer Screening Surgery • Help other family members © 2013 Rising Tide
  32. 32. Genetic Testing - Considerations • • • • • Emotional reactions Testing minors Non-informative results Confidentiality concerns Fears of genetic discrimination – HIPAA – GINA (Genetic Information Non-Discrimination Act) • Does not eliminate other causes of cancer © 2013 Rising Tide
  33. 33. Case Example • A 46 year-old women is diagnosed with a triple negative breast cancer in her left breast. • Her paternal grandmother died of breast cancer at age 45. • Her father was an only child, and she is also an only child. • She stated she would change her breast cancer surgical decision-making if she has a BRCA1 or BRCA2 mutation. • Her ovaries are intact. © 2013 Rising Tide
  34. 34. Case Example (continued) • The patient postponed her breast surgery until after her test results were available. • She tested positive for a BRCA1 mutation and decided to have bilateral mastectomies and has future plans to surgically remove her ovaries. • Her 22 year old daughter’s genetic test results are pending. © 2013 Rising Tide
  35. 35. Summary • Genetic counselors help patients understand and adapt to the implications of genetic diseases and make informed decisions about genetic testing. • There are multiple risk factors for breast cancer. • All cancer is genetic, but most cancers do not happen because of inherited reasons. • The likelihood of an inherited risk for breast cancer is determined by an individual’s personal and family histories. • Genetic test results impact medical management. • www.nsgc.org © 2013 Rising Tide
  36. 36. Thank you! Eric Fowler, MS, C/LGC Certified/Licensed Genetic Counselor Cancer Treatment Centers of America © 2013 Rising Tide

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