BRCA1 mutations
BRCA1 (Breast Cancer Susceptibility Gene 1) is a large tumor suppressor gene, located in the 17q21 region and has 24 exons. The protein plays a central role in maintaining genomic structural stability. There are over 1500 mutations described in this gene and no hot spots are being found. Women patients presenting mutations in BRAC1 gene have a 60-80% increased risk of developing breast and ovarian cancer and a higher riskd of developing uterine, cervical, pancreatic and colon cancer.
References:
- Rubinstein WS. (2008) Fam Cancer; 7:83-89
- Narod SA, Foulkes WD. (2004) Nature Rev Cancer; 4: 665-676
