II. Pathophysiology
- BRCA2, like BRCA1, normally functions as a DNA repair gene, and in effect, a tumor suppressor gene
- Chromosome 13q12-13
III. Epidemiology
- Responsible for a third of hereditary Breast Cancer
- Affects Male as well as Female carriers of the genetic mutation
IV. Associated Conditions
-
Ovarian Cancer risk: 11-20% (less than BRCA1)
- Typically high grade serous Phenotype
- Prostate Cancer: <40%
- Pancreatic Cancer: 2 to 7%
- Breast Cancer in Men: 5 to 10%
-
Breast Cancer risk in women: 40 to 70% (up to 90% in some studies)
- Typically sporadic Phenotype (ER positive, HER2 negative)
- Second primary Breast Cancer 12% within 5 years (40 to 50% at 20 years)
- Age 20-29: Relative Risk Breast Cancer 46
- Age 30-39 Relative Risk Breast Cancer 38
- Age 40-49: Relative Risk Breast Cancer 13
- Age 50-59: Relative Risk Breast Cancer 9.8
- Age 60-69: Relative Risk Breast Cancer 2.1
- 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 265:2088 [PubMed]
- (1995) Lancet 346:544 [PubMed]
- Khan (2020) Am Fam Physician 103(1): 33-41 [PubMed]