• BRCA genes;
  • endometrial cancer;
  • hereditary nonpolyposis colorectal cancer (HNPCC) syndrome;
  • ovarian cancer

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 BRCA or 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.

Please cite this article as: Devlin LA, Morrison PJ. Inherited gynaecological cancer syndromes. The Obstetrician & Gynaecologist 2008;10:9–15.