Review Inherited gynaecological cancer syndromes

Key content: Gynaecological cancer can be inherited in a mendelian fashion as part of a cancer susceptibility syndrome. Identification of 'genetic cancer' is essential so that cancer surveillance can be implemented or prophylactic surgery carried out in at-risk family members. Molecular screening is time consuming and expensive and must be targeted at families who are likely to harbour a molecular defect. Cancer surveillance is still recommended in moderate to high-risk families who have not had a molecular defect identified. A germline mutation in a BRCAor mismatch repair gene has been approved for preimplantation genetic diagnosis by the Human Fertilisation and Embryology Authority (HFEA). Learning objectives: To learn about the main cancer susceptibility syndromes associated with gynaecological cancer. To learn when to refer women. To learn about the molecular testing available. To learn about the cancer risks associated with germline mutations in BRCA and mismatch repair genes. To learn about the options available to those with a germline mutation in a cancer susceptibility gene, showing high penetrance for particular types of cancer. Ethical issues: The results of an individual's genetic test have implications for all family members. Genetic testing has implications with regard to insurance policies.