Familial Breast-Ovarian Cancer Syndromes

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Abstract
It has been estimated that approximately 5-10% of breast and ovarian cancers are due to autosomal dominant hereditary syndromes. Recently, several breast/ovarian cancer susceptibility genes have been identified. Germline mutations in BRCA1 and BRCA2 appear to account for the majority of hereditary ovarian cancer cases and at least half of hereditary breast cancers. As the genetic basis of familial breast-ovarian cancer is elucidated, we increasingly will have the ability to identify women at high risk of developing these cancers. Current clinical research efforts are aimed at defining criteria for genetic testing, the development of more cost-effective methods of testing, and proving that testing can improve the length and/or quality of life. In the interim, because testing already is available commercially, it is incumbent on the medical community to ensure that women receive appropriate pretest and posttest counseling. Women who elect to undergo genetic testing need assistance in working through difficult decisions about interventions designed to decrease cancer mortality as well as to cope with social and psychological issues. Finally, ongoing basic research efforts are focusing on defining the molecular role of BRCA1 and BRCA2 in regulation of growth and transformation and on the identification of other breast/ovarian cancer susceptibility genes.