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Also known asIRIS, PSCP, BRCAI, BRCC1, FANCS, PNCA4, RNF53, BROVCA1, PPP1R53
The BRCA1 gene provides instructions for making a protein called breast cancer type 1 susceptibility protein. This protein plays a role in repairing damaged DNA and helps to ensure the stability of the genome. The BRCA1 protein is also involved in the regulation of gene expression and in the control of cell division.
Mutations in the BRCA1 gene are associated with an increased risk of developing breast and ovarian cancers. In people who inherit a mutated copy of the BRCA1 gene, the risk of developing breast cancer is estimated to be as high as 85%, and the risk of developing ovarian cancer is estimated to be as high as 40%. These risks are much higher than the average population risk for these cancers. Women with a BRCA1 mutation may choose to undergo risk-reducing surgery, such as a mastectomy or oophorectomy, to lower their risk of cancer.