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.

doi:10.1038/gim.2015.75

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Article

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.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2016

Bellido Fernando, Pineda Marta, Aiza Gemma, Valdés-Mas Rafael, Navarro Matilde, Puente Diana A, Pons Tirso, González Sara, Iglesias Silvia, Darder Esther, Piñol Virginia, Soto José Luís, Valencia Alfonso, Blanco Ignacio, Urioste Miguel, Brunet Joan, Lázaro Conxi, Capellá Gabriel, Puente Xose S, Valle Laura

Abstract excerpt

PURPOSE: Germ-line mutations in the exonuclease domains of POLE and POLD1 have been recently associated with polyposis and colorectal cancer (CRC) predisposition. Here, we aimed to gain a better understanding of the phenotypic characteristics of this syndrome to establish specific criteria for POLE and POLD1 mutation screening and to help define the clinical management of mutation carriers. METHODS: The...

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Identifiers

PMID: 26133394
DOI: 10.1038/gim.2015.75
PMCID: PMC4823640

Genes

POLD1
POLE

Variants

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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