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Inherited gynaecological cancer syndromes

^1. Immunology Day Centre, Royal Group of Hospitals, Grosvenor Road, Belfast BT12 6BA, UK Email: lisa.devlin1{at}belfasttrust.hscni.net (corresponding author)
^2. Belfast City Hospital Trust, Belfast BT9 7AB, UK

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.

Keywords BRCA genes / endometrial cancer / hereditary nonpolyposis colorectal cancer (HNPCC) syndrome / ovarian cancer