MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors

摘要: In 2002, Al-Tassan and co-workers described for the first time a recessive form of inherited polyposis associated with germline mutations MUTYH, gene encoding base excision repair (BER) protein that counteracts DNA damage induced by oxidative stress. MUTYH-associated (MAP) is now well-defined cancer susceptibility syndrome, showing peculiar molecular features characterize disease progression. However, some aspects MAP, including diagnostic criteria, genotype-phenotype correlations, pathogenicity variants, as well relationships between BER other pathways, are still poorly understood. A deeper knowledge MUTYH expression pattern likely to refine our understanding role and, finally, improve guidances identifying handling MAP patients.