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  • Title: [From gene to disease; MutYH-associated polyposis coli (MAP)].
    Author: Nielsen M, Weiss MM, Vasen HF, Hes FJ.
    Journal: Ned Tijdschr Geneeskd; 2005 Dec 31; 149(53):2970-2. PubMed ID: 16425850.
    Abstract:
    MutYH-associated polyposis coli (MAP) is an autosomal recessive inherited form of polyposis and colorectal carcinoma associated with germline mutations in the MutYH gene on chromosome I. The MutYH protein is a base excision repair glycosylase which is involved in the repair of damage caused by the oxidation ofa guanine leading to 8-oxo-7,8-dihydroguanine. If the MutYH protein is dysfunctional, G:C --> T:A mutations in the APC-gene give rise to polyposis and in 50-60% of cases also colorectal carcinoma. MutYH polyposis differs from familial adenomatous polyposis coli in its mode of transmission, later age of onset, a less florid form of polyposis, and fewer extra colonic manifestations.
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