BRCA2 mutations
BRCA2 (Breast Cancer Susceptibility Gene 2) is a large tumor suppressor gene, located in the 13q12 region and has 26 exons. BRCA2 protein functions in the Fanconi anemia pathway, which is partly responsible for genome-maintenance. There are over 1200 BRCA2 germline mutations described in this gen, being the majority (80%) nonsense or frameshift mutations which lead to the development of premature stop codons and result in truncated and non-functional BRCA2 proteins.
Women presenting mutations in BRAC2 have a 60-80% increased risk of developing breast cancer and 10-20% risk of developing ovarian cancer in women. Men presenting mutations in BRAC2 have 5-10% risk of developing breast cancer and/or prostate cancer. BRCA2-truncating mutations are carried by approximately 10% of high-risk familial pancreatic cancer patients. Gastric cancer and melanoma can be related to BRAC2 mutations.
References:
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- Rubinstein WS. (2008) Fam Cancer; 7:83-89
- Couch, F. J., Johnson, M. R., et al. (2007). Cancer Epidemiol. Biomarkers Prev. 16, 342–346
- Narod SA, Foulkes WD. (2004) Nature Rev Cancer; 4: 665-676
