[Inherited mutations of MUTYH and colorectal cancer].
MUTYH, one of base-excision repair enzymes, is associated with human genetic disorders. Inherited biallelic mutations in the human MUTYH gene are responsible for an autosomal recessive syndrome-adenomatous colorectal polyposis (MUTYH associated polyposis, MAP), which significantly increases the risk of colorectal cancer (CRC). In this article we review the relationship between BER and the oxidative damage to DNA, the functional overlap of BER with other repair proteins, the molecular mechanism of tumourigenesis in MAP, and delineate the MUTYH polyposis phenotype and its prevention.
Zhou
Hui-hui
HH
Department of Pathology, College of Medicine, Zhejiang University, Hangzhou 310058, China.
D011125:Adenomatous Polyposis Coli / Q000150:complications / Q000201:enzymology / Q000235:genetics; D015179:Colorectal Neoplasms / Q000201:enzymology / Q000209:etiology / Q000235:genetics*; D004249:DNA Damage; D045647:DNA Glycosylases / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D009154:Mutation; D012307:Risk Factors
D045647:DNA Glycosylases; C061738:mutY adenine glycosylase