MUTYH-associated polyposis - From defect in base excision repair to clinical genetic testing

摘要: Established predisposition genes account for only a small proportion of familial colorectal cancer. Recently, it has been shown that germline mutations in MUTYH predispose to MUTYH-associated polyposis (MAP), an autosomal recessive disorder characterised by multiple adenomas and carcinomas. functions as base excision repair DNA glycosylase excises adenines misincorporated opposite 8-oxo-7,8-dihydro-2'-deoxyguanosine, one the most stable products oxidative damage. It is failure correct this mispair thought give rise characteristic signature G:C-->T:A found MAP-associated tumours. Here, we review mutation spectrum at locus (comprising 30 truncating 55 missense/inframe insertion/deletion variants) molecular mechanism biochemical defect(s) underlying disorder. We also discuss application genetic analysis clinical practice.