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Article

Polymerase proofreading-associated polyposis: a new, dominantly inherited syndrome of hereditary colorectal cancer predisposition.

Diseases of the colon and rectum - 1 Mar 2014

Church James M

Abstract excerpt

Germline mutations in the exonuclease (proofreading) domains of 2 DNA polymerases (POLE and POLD1) have been associated with a dominantly inherited, highly penetrant syndrome of oligo adenomatous polyposis and early-age-of-diagnosis colorectal cancer and endometrial cancer. The loss of proofreading capability causes multiple mutations throughout the genome and is manifest as microsatellite-stable, chromosomal...

Read the complete abstract on PubMed

Topics

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Share to Adenomatous Polyposis Coli
Share to DNA Mismatch Repair
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24509466
DOI: 10.1097/DCR.0000000000000084

Genes

POLD1
POLE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Polymerase proofreading-associated polyposis: a new, dominantly inherited syndrome of hereditary colorectal cancer predisposition.PMID 24509466Read ↗

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomasSemantic proximity Read ↗

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

Role of POLE and POLD1 in familial cancer.Semantic proximity Read ↗

POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer.Semantic proximity Read ↗

Replicative DNA polymerase mutations in cancer.Semantic proximity Read ↗

Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.Semantic proximity Read ↗

Comparative Analysis of Somatic and Germline Polymerase Proofreading Deficiencies in Cancer: Molecular and Clinical ImplicationsSemantic proximity Read ↗

New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposisSemantic proximity Read ↗

A mutation in POLE predisposing to a multi-tumour phenotype.Semantic proximity Read ↗

Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells.Semantic proximity Read ↗

POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.Semantic proximity Read ↗

Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.Semantic proximity Read ↗

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