The BRCA1 gene was discovered as a region on chromosome 17q21 that has a high frequency of mutation in families predisposed to breast cancer. Specific mutations and variability in expression have been identified and characterized, including the founder mutation 185delAg in Askenazi Jewish families. The sequence of the BRCA1 gene product is unique from known families of proteins, except for a leucine zipper motif which is probably involved in DNA binding. BRCA1 functions as a tumor suppressor by mechanisms not yet understood. It has recently been suggested that BRCA1 might induce apoptosis similar to the gatekeeper function of the p53 tumor suppressor.
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