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Germline testing of mismatch repair genes is not aided by prescreening tumours for allelic loss
  1. R L Ward1,
  2. E Mokany2
  1. 1Department of Medical Oncology, St Vincent’s Hospital Sydney, Sydney, Australia
  2. 2School of Medicine, University of NSW, NSW, Australia
  1. Correspondence to:
    Dr R L Ward
    Department of Medical Oncology, St Vincent’s Hospital, Darlinghurst, Sydney 2010, Australia; r.wardgarvan.unsw.edu.au

https://doi.org/10.1136/gut.2003.031716

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    Immunostaining and microsatellite testing of tumours is increasingly being used to guide germline testing in individuals with suspected hereditary non-polyposis colorectal cancer (HNPCC).1 While the aim of these prescreening tests is to minimise the cost and maximise the chance of identifying a pathogenic germline change, it is clear that neither alone is ideal. In clinical practice, germline testing can often only be justified where an individual has developed a tumour which is microsatellite unstable, and which fails to express a mismatch …

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