An increasing number of women are presenting to gynaecology and clinical genetics clinics with concerns about a family history of ovarian cancer. Although most ovarian cancer is sporadic, about 5–10% is due to the inheritance of an ovarian cancer susceptibility gene. The genes that have currently been identified are the BRCA genes involved in hereditary breast/ovarian cancer and the mis-match repair genes of hereditary non-polyposis colon cancer (HNPCC). This article looks at four different types of ovarian cancer family history. It uses these family histories to illustrate the ways in which families at high risk for ovarian cancer can be identified by pedigree analysis. It also reviews the genes that can lead to ovarian cancer and the use of genetic testing in the management of high-risk families. The follow up of families with a family history of ovarian cancer is discussed, including the role of screening, hormonal manipulation and prophylactic surgery.
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