Inherited risk of ovarian cancer and the implications for screening

Epithelial ovarian cancer is a disease normally diagnosed at late stages, when survival rates are particularly poor. Diagnostic screening strategies are currently ineffective at detecting diseases at the earliest most treatable stages. This is confounded by the relative rarity of the disease. Stratifying the population according to genetic, lifestyle, and/or epidemiological risk factors could improve early-stage screening approaches by enriching the population for individuals at greatest disease risk. If lifetime risks are substantial, surgical interventions such as laparoscopic salpingo-oophorectomy could be offered to women to eliminate altogether their risks of primary cancer of the ovary. There have been significant recent advances in characterizing genetic risk factors for a multitude of cancers, including ovarian cancer. This research has been driven by technological advances that enable very high throughput DNA scanning approaches in tens of thousands of subjects. This article summarizes the progress in identifying genetic alleles for ovarian cancer in the population and the implications for clinical intervention strategies based on identifying the proportion of the population at greatest risk of disease.