Colorectal Cancer in a Monoallelic MYH Mutation Carrier

    Authors

    R. Khalaf; C. Jones; W. Strutt;P. Williamson

    Comments

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    Abbreviated Journal Title

    J. Gastrointest. Surg.

    Keywords

    Colorectal cancer; MYH polyposis; Monoallelic mutations; Biallelic; mutations; POLYPOSIS; Gastroenterology & Hepatology; Surgery

    Abstract

    Although the literature describes mutY homolog gene (MYH) polyposis as an autosomal recessive syndrome, we report a case of colorectal cancer in a carrier of MYH polyposis. Biallelic mutations in the MYH gene have been shown to increase the risk of colorectal cancer over the lifetime of the mutation carrier.1,2 However, there is no clear consensus in the literature as whether a monoallelic mutation increases the risk for colorectal cancer.3 In this report, we postulate that a single mutation is sufficient to increase the risk of colorectal cancer. We also propose that the G382D MYH mutation may play a dominant rather than a recessive role in polyposis and cancer development.

    Journal Title

    Journal of Gastrointestinal Surgery

    Volume

    17

    Issue/Number

    8

    Publication Date

    1-1-2013

    Document Type

    Article

    Language

    English

    First Page

    1500

    Last Page

    1502

    WOS Identifier

    WOS:000321837900022

    ISSN

    1091-255X

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