Ontology highlight
ABSTRACT:
SUBMITTER: Viel A
PROVIDER: S-EPMC5478212 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
EBioMedicine 20170413
8-Oxoguanine, a common mutagenic DNA lesion, generates G:C>T:A transversions via mispairing with adenine during DNA replication. When operating normally, the MUTYH DNA glycosylase prevents 8-oxoguanine-related mutagenesis by excising the incorporated adenine. Biallelic MUTYH mutations impair this enzymatic function and are associated with colorectal cancer (CRC) in MUTYH-Associated Polyposis (MAP) syndrome. Here, we perform whole-exome sequencing that reveals a modest mutator phenotype in MAP CR ...[more]