Family history of gynaecological cancers

Women are presenting to primary and secondary care with concerns about a family history of ovarian and breast cancer, or ovarian, endometrial and bowel cancer. Although most ovarian and endometrial cancer is sporadic, about 5−10% is due to mutations in genes which predispose to breast/ovarian cancers, BRCA1 and BRCA2, and ovarian/endometrial and bowel cancer, the mismatch repair genes of hereditary non-polyposis colon cancer (HNPCC). This review considers different scenarios in women presenting with a family history of ovarian and endometrial cancer. It uses these family histories to illustrate the ways in which families at high risk of ovarian and endometrial cancer can be identified by pedigree analysis. There will be further discussion about these genes and the different management options available to families, including surveillance, chemoprevention and prophylactic surgery.