Ontology highlight
ABSTRACT:
SUBMITTER: Briggs S
PROVIDER: S-EPMC3709119 | biostudies-literature | 2013 Jun
REPOSITORIES: biostudies-literature
Briggs Sarah S Tomlinson Ian I
The Journal of pathology 20130601 2
Polymerases ε and δ are the main enzymes that replicate eukaryotic DNA. Accurate replication occurs through Watson-Crick base pairing and also through the action of the polymerases' exonuclease (proofreading) domains. We have recently shown that germline exonuclease domain mutations (EDMs) of POLE and POLD1 confer a high risk of multiple colorectal adenomas and carcinoma (CRC). POLD1 mutations also predispose to endometrial cancer (EC). These mutations are associated with high penetrance and dom ...[more]