Abstract
Sporadic breast cancer and ovarian cancer constitute two of the top four cancers occurring in women in the 1990s. Familial forms of these diseases also have been recognized; breast cancer is heritable in 5–10% of cases and ovarian cancer in 3–13% of cases. Screening for early disease has been useful for breast cancers but not for ovarian cancers. Genetic testing allows for predicting who will be at risk for developing either disease. The Breast Cancer (BRCA) genes are thought to be involved in 99% of all combined familial breast and ovarian cancers; the best defined gene is BRCA1. The presence of a mutated BRCA1 allele confers a lifetime risk of breast cancer of 70–80% and a risk of ovarian cancer of 40–50%. Individuals with this mutation also have an increased risk of developing colon, prostate, and pancreatic cancer. Genetic analysis for these genes is complex, and management of the information gained from testing needs to be handled with care. Nonetheless, the discovery of the BRCA genes and the determination of their role in familial breast and ovarian cancers represent major steps in cancer prevention.
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