Early Detection and Risk Reduction for Familial Gynecologic Cancers

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Abstract
Family history has long been recognized as a risk factor in the development of breast, ovarian, and colorectal cancers. With the discovery and continued investigation of genetic susceptibility genes, a group of high-risk patients now can be identified. Because of the earlier age of presentation and the higher disease prevalence, altered screening and risk reduction strategies may provide improved outcomes for hereditary cancer families. For a screening test to be effective, the disease must be detected at an early enough stage for treatment interventions to improve disease outcome. In a population with high disease prevalence such as hereditary cancer families, the positive predictive value of a test improves significantly. Therefore, even screening tests that may not be applicable to the general population may be appropriate in high-risk populations. Improved understanding of the underlying risks and mechanisms of disease also will promote interventions that reduce the incidence of familial cancers.