Abstract

More and more women are presenting to gynaecology and clinical genetics clinics concerned 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 been identified up to now are the BRCA genes involved in hereditary breast/ovarian cancer and the mismatch repair genes of hereditary non-polyposis colon cancer. This article reviews the different types of ovarian cancer family history and the genes that give rise to them. The ways in which families at high risk for ovarian cancer can be identified by pedigree analysis and genetic testing are described. Finally, the management of families with a family history of ovarian cancer is discussed including the role of screening, hormonal manipulation and prophylactic oophorectomy.

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