breast cancer
•Download as PPTX, PDF•
0 likes•125 views
This document discusses genetic testing for breast and ovarian cancer risk. It notes that not everyone with breast cancer needs genetic testing, but certain high-risk groups should be referred for further evaluation, such as those diagnosed at a young age or with a family history. Genetic testing can find pathogenic mutations that increase cancer risk or identify variants of uncertain significance. A positive test result indicates increased cancer risks and screening/prevention options, while a negative result does not rule out hereditary risk based on personal/family history factors. Over time, the rate of uncertain variants from BRCA1/2 testing has declined as knowledge improves. Most breast cancers still do not have an identifiable inherited genetic mutation.
More Related Content
What's hot
What's hot (20)
Similar to breast cancer
Similar to breast cancer (20)
More from madurai
More from madurai (20)
Recently uploaded
Recently uploaded (20)
breast cancer
- 1. DOES EVERY ONE WITH BREAST CANCER NEED TO SEE DR. R. RAJKUMAR D.M. CONSULTANT MEDICAL ONCOLOGIST VELAMMAL MEDICAL COLLEGE & SPECIALITY HOSPITALS
- 7. Genetic information is key
- 11. When to Refer for Further Genetic Risk Evaluation: Breast & Ovarian • Breast cancer diagnosed ≤ 50 years • Ashkenazi Jewish ancestry and breast/ovarian (or pancreatic) cancer • Triple negative breast cancer ≤ 60 • Multiple primary cancers • Breast cancer in a male • Ovarian cancer at any age • Family history and/or known familial mutation NCCN version 1.2018 “Genetic/Familial High Risk Assessment: Breast and Ovarian”; www.nccn.org
- 15. When to Refer for Further Genetic Risk Evaluation: Breast & Ovarian • Breast cancer diagnosed ≤ 50 years • Ashkenazi Jewish ancestry and breast/ovarian (or pancreatic) cancer • Triple negative breast cancer ≤ 60 • Multiple primary cancers • Breast cancer in a male • Ovarian cancer at any age • Family history and/or known familial mutation NCCN version 1.2018 “Genetic/Familial High Risk Assessment: Breast and Ovarian”; www.nccn.org
- 18. 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
- 20. TABLE 1. Characteristics of Patients Who Met and Did Not Meet NCCN Guidelines
- 23. Rates of Uncertain Variants 0.0% 5.0% 10.0% 15.0% 20.0% 25.0% 30.0% 35.0% 40.0% 2002 2006 2008 2012 Decline in Rate of BRCA1/2 Variants of Uncertain Significance All Patients Middle Eastern Asian African Native American Latin American Central European Western European 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.
- 24. Possible Results of Genetic Testing • Positive • “Mutation” • “Pathogenic variant” • “Deleterious variant” • “Likely pathogenic/deleterious variant” • Negative • Variant of uncertain/unknown significance
- 25. Slide for professional use from Myriad Genetic Laboratories https://new.myriadpro.com/products/myriad-myrisk/patient-education/ Use of this image does not imply endorsement. Pathogenic mutation
- 26. Positive Test Result Cancer risk(s) increased due to pathogenic hereditary gene mutation • Cancer treatment decisions (if applicable) • Result may influence surgical decisions, chemotherapy options, clinical trial eligibility • Cancer screening and risk reduction options • Additional imaging? More frequent clinical exams? • Surgery? Chemoprevention? Lifestyle changes? • Information for the family • A “diagnosis” for the family • Testing of relatives with / without cancer for the known mutation • May or may not influence clinical care and management
- 27. Negative/Uncertain Test Result Cancer risk(s) may still be increased based on personal risk factors and/or family history • Cancer treatment decisions (if applicable) • Not impacted by result • Cancer screening and risk reduction options • Based on personal and family history • Information for the family • A negative/variant result does not eliminate the possibility of hereditary cancer in the family • Other family members may still wish to consider genetic testing
- 28. What is a Variant of Uncertain Significance? • Alteration in a gene with limited and/or conflicting evidence regarding pathogenicity • Classification system • AA biochemical similarities • Presence/absence in healthy individuals • Presence in individuals with X-related cancers • Prediction algorithms: PolyPhen and SIFT • Internal data • *Occasional variant classification studies through laboratory*
- 29. N=398
- 30. Rates of Uncertain Variants 0.0% 5.0% 10.0% 15.0% 20.0% 25.0% 30.0% 35.0% 40.0% 2002 2006 2008 2012 Decline in Rate of BRCA1/2 Variants of Uncertain Significance All Patients Middle Eastern Asian African Native American Latin American Central European Western European 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.
- 33. The Majority of Breast Cancers Do Not Have an Identifiable Germline Mutation