II. Pathophysiology
- BRCA1, like BRCA2, normally functions as a DNA repair gene, and in effect, a tumor suppressor gene
- Chromosome 17q21
III. Epidemiology
- More common in Ashkenazi Jewish women
- Much less effect in males compared with BRCA2
- Responsible for a third of hereditary Breast Cancer
IV. Associated Conditions
-
Ovarian Cancer risk: 18 to 40% (up to 54% in some studies)
- Typically high grade serous Phenotype
- Prostate Cancer: <30%
- Pancreatic Cancer: 1 to 3%
- Breast Cancer in Men: 1 to 2%
-
Breast Cancer risk in women: 50-80%
- Triple negative Breast Cancer in 80% of cases
- Second primary Breast Cancer 27% within 5 years
- Age 20-29: Relative Risk Breast Cancer 106
- Age 30-39 Relative Risk Breast Cancer 44
- Age 40-49: Relative Risk Breast Cancer 15
- Age 50-59: Relative Risk Breast Cancer 8.2
- Age 60-69: Relative Risk Breast Cancer 2.8
- Chen (2006) j clin oncol 24(6): 863-71 [PubMed]
- Metcalfe (2018) Clin Genet 93(5): 1063-8 [PubMed]
V. References
- Lypas (2018) Forum of Clinical Oncology 7(2): 16-24
- (1994) Science 266:66 [PubMed]
- (1995) Nat Genet 11:198 [PubMed]
- Khan (2020) Am Fam Physician 103(1): 33-41 [PubMed]