MutYH (MYH) and colorectal cancer.
MAP (MutYH-associated polyposis) is a recently described colorectal adenoma and carcinoma predisposition syndrome that is associated with biallelic-inherited mutations of the human MutY homologue gene, MutYH. MutYH is often also termed MYH. MAP tumours display a mutational signature of somatic guanine-to-thymine transversion mutations in the adenomatous polyposis coli and K-ras genes, reflecting the normal role of MutYH in the base excision repair of adenines misincorporated opposite 7,8-dihydro-8-oxoguanine, a prevalent and stable product of oxidative damage to DNA. However, the full genetic pathway of MAP tumorigenesis has not been elucidated.
Sampson
J R
JR
Department of Medical Genetics, Cardiff University, Heath Park, Cardiff CF14 XN, UK.
Jones
S
S
Dolwani
S
S
Cheadle
J P
JP
D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D020137:Base Pair Mismatch / Q000235:genetics; D015179:Colorectal Neoplasms / Q000235:genetics*; D004249:DNA Damage; D045647:DNA Glycosylases / Q000235:genetics*; D006801:Humans; D009154:Mutation
D045647:DNA Glycosylases; C061738:mutY adenine glycosylase