Definition: BRCA1 is a gene that, when healthy, prevents breast tumors from forming. BRCA1 makes a protein that regulates cell growth and division of the cells that line the milk ducts in your breast. If BRCA1 is mutated, the protein that is makes is unable to regulate cell division, leaving your breast cells susceptible to the growth of cancer.
Also Known As: breast cancer 1, early onset
Common Misspellings: BCRA1
Examples:
There are more than 600 known mutations of the BRCA1 gene, most of which increase the risk of developing breast cancer. BRCA1 and BRCA2 were the first of many breast cancer genes to be identified, and are associated with hereditary breast cancer, as well as ovarian cancer, prostate cancer, and colon cancer.Image Source: A.N., Ladias, J.A., Foulkes, W.D. (2008) Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach. Eur.J.Hum.Genet. Courtesy of Protein Data Bank, Research Collaboratory for Structural Bioinformatics.
