Gaba, FM; Manchanda, R; (2017) Genetic testing for gynaecological cancer. Obstetrics, Gynaecology & Reproductive Medicine , 27 (1) pp. 29-31. 10.1016/j.ogrm.2016.11.001.

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Abstract

The traditional family-history approach to genetic testing involves taking a detailed three generation family-history from both sides of the family, ethnicity, type of cancer, age of onset and death. Testing for BRCA1/BRCA2 mutations is offered at a ≥10% combined BRCA1/BRCA2 probability. Risk models such as the Manchester scoring system, BOADICEA and BRCAPRO can be used to calculate BRCA1/BRCA2 probability. High-risk women identified should be referred to a regional genetics service for genetic counselling and testing. The Amsterdam-Criteria-2 have been traditionally used to identify Lynch syndrome (caused by a mismatch repair gene (MLH1/MSH2/MSH6/PMS2) mutation). Molecular (immunohistochemistry and Microsatellite instability) analysis of tumour tissue is now established as an initial step, with genetic testing undertaken for protein deficient or MSI unstable tumours. This is offered for those fulfilling Bethesda criteria and recently for all colorectal cancer cases <60 years. BRCA1/BRCA2 testing is recommended for all non-mucinous invasive epithelial ovarian cancers irrespective of family-history (10–20% have a BRCA1/BRCA2 mutation). This is being undertaken by non-genetics clinicians. A population-based approach to genetic testing identifies 50% more carriers at risk. It has been extensively investigated in the Ashkenazi-Jewish population and found to be extremely cost-effective in this community. This is expected to lead to change in guidelines in the future.

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