Testing for Hereditary Risk of Ovarian Cancer

BACKGROUND: Approximately one out of every 10 ovarian cancers is caused by inherited mutations in identified genes. The characterization of hereditary ovarian cancer as an autosomal dominant disorder of specific gene mutations is more specific and useful than descriptive clinical syndromes such as "Lynch II," "site-specific ovarian cancer," or "breast-ovarian cancer." METHODS: The author reviewed recent studies of the biology, epidemiology, and medical management of hereditary ovarian cancer risk. RESULTS: Most hereditary ovarian cancer is attributable to two genes, BRCA1 and BRCA2, with other genes accounting for a smaller fraction. Women who inherit a mutation in any of these genes are far more likely than the general population to develop an epithelial malignancy of the ovary. Appropriate evaluation of family history can identify women most likely to have hereditary cancer risk, and genetic testing can definitively identify women with germline mutations that place them and their family at increased risk of ovarian cancer. CONCLUSIONS: Hereditary risk assessment, including genetic testing, can enhance medical management when used appropriately and should be accompanied by patient education and counseling.