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Article

Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers.

The Journal of pathology - 1 Jun 2013

Briggs Sarah, Tomlinson Ian

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23447401
DOI: 10.1002/path.4185
PMCID: PMC3709119

Genes

POLD1
POLE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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