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Genetics of Breast Cancer
- 1. Genetics of Breast Cancer Reem Saadeh, MD Clinical Geneticist Sibley Memorial Hospital October 3, 2009
- 6. Autosomal Dominant Inheritance Important to note that affected in this case only means that individual has one non working gene.
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- panel-due to inbreeding and increased frequency of these mutations. Founder due to migration, inbreeding due to cultrual/society isolation Go to sequencing if once you remove their ash jew heritage, they still fulfill the >5% risk of carrying a mutation Minimize writing—take out if you consider them not ashk jews etc
- Again minimize writign once ikknow it
- chec,k on the 10-20%, get infor for breast cancer risk per year etc
- (BRCA2 cancers do not have characteristic histopathology)
- Slide 9: Managing Hereditary Cancer Risk A discussion of the likelihood of carrying a mutation and the associated risks of cancer should occur in the context of available medical interventions to address those risks. The benefits and limitations of increased surveillance, chemoprevention, and prophylactic surgery should each be considered for women with hereditary risk. Over the past few years, numerous published studies have documented the efficacy of various medical management options in reducing cancer risk among carriers of a BRCA1 or BRCA2 mutation. References : 1. Frank TS, et al. Sequence analysis of BRCA1 and BRCA2 : correlation of mutations with family history and ovarian cancer risk. JCO 1998;16:2417-2425. 2. The Breast Cancer Linkage Consortium: Cancer Risks in BRCA2 Mutation Carriers. JNCI 1999;15:1310-1316. 3. Verhoog LC, et al. Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1 . Lancet 1998;351:316-321. 4. Verhoog LC, et al. Survival in hereditary breast cancer associated with germline mutations of BRCA2 . JCO 1999;17:3396-3402. 5. Schrag D, et al. Life expectancy gains from cancer prevention strategies for women with breast cancer and BRCA1 or BRCA2 mutations. JAMA 2000;283:617-624. 6. Narod SA, Offit K. Prevention and Management of Hereditary Breast Cancer. J Clin Oncol . 2005 Mar 10; 23(8):1656-63.
- Ca 125 high false positive rate
- Age 50 years for general population, high risk is 45 years old
- It is known that tamoxifen reduces risk of an unaffected woman developing cancer if her risks are high who is under age 50 yrs best, but reduces risk of estrogen + tumors, not estrogen -. That is why unaffected BRCA1 carriers did not show decrease.
- In young women can do tah-bso to be able to give hrt for prolonged periods without increased risk of uterine ca due to tam or unapposed estrogen Find out specifics about how long to use tamoxifen etc—2 years for a benefit etc Affected BRCA carriers: 50% decrease for contralateral breast cancer Unaffected BRCA2 carriers: 62% decrease Unaffected high-risk: 45% decrease