Genetic Testing for Breast & Ovary Cancer
56 slide(s) – 00:23:44 – English – 2009-01-23
After viewing this presentation the participant will be able to discuss:
- The impact of BRCA mutations on breast and ovarian cancer risks
- Management of hereditary breast and ovarian cancer risks
- Genetic and nongenetic factors that influence cancer risks in BRCA1/ BRCA2 mutation carriers
Compared to the general population, a BRCA mutation increases breast and ovarian cancer risks. BRCA1 and BRCA2 mutations are autosomal dominant, and can be maternally as well as paternally inherited. Although genetic testing allows for individualized medical management, testing for BRCA1 and BRCA2 doesn’t identify all the causes of hereditary breast or ovarian cancer.
With regards to managing hereditary cancer risk, surveillance, chemoprevention and prophylactic surgery are used. For ovarian cancer there is no effective screening test, says Prof. Beller, so prophylactic salpingo-oophorectomy is recommended for women who are carriers. Risk factors for hereditary breast and ovarian cancer include breast cancer before age 50, ovarian cancer at any age, male breast cancer at any age, multiple primary cancers, Ashkenazi Jewish ancestry, and being a relative of a BRCA mutation carrier. The Ashkenazi Jew and Icelandic populations are good for studying specific BRCA1 and BRCA2 mutations.
The Israeli Consortium Study looked at the estimated risk of breast and ovarian cancer due to inherited BRCA1/BRCA2 mutations. Breast cancer risk was found to differ between BRCA1 and BRCA2 mutation carriers. Also the birth cohort had an impact on cancer risk, indicating that environmental factors are important for the expression of hereditary disease. Prof. Beller shows data indicating familial clustering of a site specific risk factor which seems to be an additional genetic phenomenon.
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