The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population

Lise Lotte Christensen, Bo E Madsen, Friedrik P Wikman, Carsten Wiuf, Karen Koed, Anne Tjønneland, Anja Viendahl Olsen, Ann-Christine Syvänen, Claus L Andersen, Torben F Orntoft

    Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

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    Abstract

    Mutations in the mismatch repair genes hMLH1 and hMSH2 predispose to hereditary non-polyposis colorectal cancer (HNPCC). Genetic screening of more than 350 Danish patients with colorectal cancer (CRC) has led to the identification of several new genetic variants (e.g. missense, silent and non-coding) in hMLH1 and hMSH2. The aim of the present study was to investigate the frequency of these variants in hMLH1 and hMSH2 in Danish patients with sporadic colorectal cancer and in the healthy background population. The purpose was to reveal if any of the common variants lead to increased susceptibility to colorectal cancer.
    OriginalsprogEngelsk
    TidsskriftB M C Medical Genetics
    Vol/bind9
    Sider (fra-til)52
    ISSN1471-2350
    DOI
    StatusUdgivet - 1 jan. 2008

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