Study of the causative alterations of the base excision repair gene MUTYH on the carcinogenesis of sporadic colorectal cancer and of the possible clinical applications.

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The base excision repair gene MUTYH encodes glycosylase which removes adenine residues mispaired with 8-OHG. Biallelic germline mutation of the MUTYH gene are known to cause multiple colorectal adenomas including polyposis and cancer, mostly due to G:C→T:A transversions in proto-ongogenes or tumor suppressor genes. To investigate the possible role of MUTYH mutation in sporadic colorectal cancer (CRC), we examined alterations of the MUTYH gene including somatic mutations and allelic loss in sporadic CRC. MUTYH mutations in cancer DNA were detected in 3 cases, while mutations were also found in DNA samples from the normal tissue, indicating that all were germline mutations. In conclusion, somatic alterations of MUTYH in sporadic CRC were rare, similar to other DNA repair genes.