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Article

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

European journal of human genetics : EJHG - 1 Jul 2024

Andrianova Maria A, Seplyarskiy Vladimir B, Terradas Mariona, Sánchez-Heras Ana Beatriz, Mur Pilar, Soto José Luis, Aiza Gemma, Borràs Emma, Kondrashov Fyodor A, Kondrashov Alexey S, Bazykin Georgii A, Valle Laura

Abstract excerpt

Constitutional heterozygous pathogenic variants in the exonuclease domain of POLE and POLD1, which affect the proofreading activity of the corresponding polymerases, cause a cancer predisposition syndrome characterized by increased risk of gastrointestinal polyposis, colorectal cancer, endometrial cancer and other tumor types. The generally accepted explanation for the connection between the disruption of the...

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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: 38658779
DOI: 10.1038/s41431-024-01598-8
PMCID: PMC11219999

Genes

POLD1
POLE

Variants

Provenance

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

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