Role of POLE and POLD1 in familial cancer.

doi:10.1038/s41436-020-0922-2

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Article

Role of POLE and POLD1 in familial cancer.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2020

Mur Pilar, García-Mulero Sandra, Del Valle Jesús, Magraner-Pardo Lorena, Vidal August, Pineda Marta, Cinnirella Giacomo, Martín-Ramos Edgar, Pons Tirso, López-Doriga Adriana, Belhadj Sami, Feliubadaló Lidia, Munoz-Torres Pau M, Navarro Matilde, Grau Elia, Darder Esther, Llort Gemma, Sanz Judit, Ramón Y Cajal Teresa, Balmana Judith, Brunet Joan, Moreno Victor, Piulats Josep M, Matías-Guiu Xavier, Sanz-Pamplona Rebeca, Aligué Rosa, Capellá Gabriel, Lázaro Conxi, Valle Laura

Abstract excerpt

PURPOSE: Germline pathogenic variants in the exonuclease domain (ED) of polymerases POLE and POLD1 predispose to adenomatous polyps, colorectal cancer (CRC), endometrial tumors, and other malignancies, and exhibit increased mutation rate and highly specific associated mutational signatures. The tumor spectrum and prevalence of POLE and POLD1 variants in hereditary cancer are evaluated in this study. METHODS: POLE...

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Identifiers

PMID: 32792570
DOI: 10.1038/s41436-020-0922-2
PMCID: PMC7708298

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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