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Article

Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2018

Buchanan Daniel D, Stewart Jenna R, Clendenning Mark, Rosty Christophe, Mahmood Khalid, Pope Bernard J, Jenkins Mark A, Hopper John L, Southey Melissa C, Macrae Finlay A, Winship Ingrid M, Win Aung Ko

Abstract excerpt

BACKGROUND: Germ-line mutations in the exonuclease domains of the POLE and POLD1 genes are associated with an increased, but yet unquantified, risk of colorectal cancer (CRC). METHODS: We identified families with POLE or POLD1 variants by searching PubMed for relevant studies prior to October 2016 and by genotyping 669 population-based CRC cases diagnosed in patients under 60 years of age, from the Australasian...

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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: 29120461
DOI: 10.1038/gim.2017.185
PMCID: PMC5943186

Genes

POLE
POLD1
MSH6

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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Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.PMID 29120461Read ↗

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