Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test

L. Schofield, Natasha Watson, F. Grieu, W.Q. Li, Nikolajs Zeps, Jennet Harvey, C. Stewart, M. Abdo, Jack Goldblatt, Barry Iacopetta

    Research output: Contribution to journalArticlepeer-review

    66 Citations (Scopus)

    Abstract

    Approximately 1–2% of colorectal cancers (CRC) arise because of germline mutations in DNA mismatch repair genes, referred to as Lynch syndrome. These tumours show microsatellite instability (MSI) and loss of expression of mismatch repair proteins. Pre-symptomatic identification of mutation carriers has been demonstrated to improve survival; however, there is concern that many are not being identified using current practices. We evaluated population-based MSI screening of CRC in young patients as a means of ascertaining mutation carriers. CRC diagnosed in patients aged
    Original languageEnglish
    Pages (from-to)1097-1102
    JournalInternational Journal of Cancer
    Volume124
    Issue number5
    DOIs
    Publication statusPublished - 2009

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