The thorough screening of the MUTYH gene in a large French cohort of sporadic colorectal cancers |
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Authors: | Küry Sébastien Buecher Bruno Robiou-du-Pont Sébastien Scoul Catherine Colman Hélène Lelièvre Bénédicte Olschwang Sylviane Le Houérou Claire Le Neel Tanguy Faroux Roger Ollivry Jean Lafraise Bernard Chupin Louis-Dominique Bézieau Stéphane |
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Institution: | Laboratoire d'Etude de l'ADN, Faculté de Médecine de Nantes, 44035 France. Kury@univ-nantes.fr |
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Abstract: | The MUTYH gene encodes a key glycosylase of the base-excision repair system that is involved in maintaining genomic DNA stability against oxidative damage. Biallelic germline MUTYH mutations have been proved to greatly predispose to non-familial adenomatous polyposis (FAP) and non-hereditary non-polyposis colorectal cancer (HNPCC) familial recessive forms of colorectal cancer with multiple adenomas. To date, there is still much debate over the impact of monoallelic germline MUTYH mutations on colorectal carcinogenesis. To evaluate their role in the susceptibility to sporadic colon and rectum cancers, we screened 1024 French sporadic colorectal cancer cases and 1121 French healthy controls for Caucasian MUTYH-associated polyposis mutations, including already known mutations p.Gly382Asp and p.Tyr165Cys, and new mutation p.Val479Phe. We observed a nonstatistically significant association between these MUTYH mutations at a heterozygous state and an increase in colorectal cancer risk (odds ratio OR] 1.26, 95% confidence interval CI] 0.70-2.27). As a result, we conclude that heterozygous MUTYH mutations do not play a major role in sporadic colorectal carcinogenesis although a modest effect on this process cannot be ruled out. |
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