Mutations in BRCA1 and BRCA2 were first discovered in the mid-1990s in families with multiple cases of breast and ovarian cancer and remain the major cause of inherited susceptibility to these malignancies. At first, testing for mutations in these genes was limited to women with cancer diagnosis at a young age or with a substantial family history, bilateral breast cancer, or both breast and ovarian cancer. Mounting evidence that BRCA1 and BRCA2 mutations account for a substantial proportion of breast and ovarian cancer, combined with emerging therapies based on BRCA1 or BRCA2 genotype, led to expansion of referral criteria to include many women with breast or ovarian cancer upon diagnosis. Read more…
