Inherited breast cancer represents approximately 7% of all breast cancer1. Germline mutations in two major causal genes, BRCA1 and BRCA2, account for up to 80% of strongly familial breast cancers. Mutations are inherited in an autosomal dominant manner, with high (though not complete) penetrance, and have been associated with 40-80% lifetime risk for breast, 11-40% for ovarian, up to 39% for prostate and up to 7% for pancreatic cancer 2-4. Ethnic-specific mutations have also been identified; in particular three common founder mutations in individuals of Ashkenazi Jewish ancestry [c.68_69delAG (BRCA1), c.5266dupC (BRCA1), and c.5946delT (BRCA2)] account for the vast majority of BRCA1/2 associated hereditary breast cancers5. Genetic testing results in familial breast and ovarian cancers can influence medical care in guiding surveillance, management and providing ability to identify other at-risk family members.
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BRCA1 and BRCA2 Gene Mutation Analysis Assay Summary
(in portable document format (pdf) which requires Adobe® Acrobat® Reader™ to view or print; download latest version free)
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