Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Comparative Analysis of Somatic and Germline Polymerase Proofreading Deficiencies in Cancer: Molecular and Clinical Implications.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc - 1 Dec 2025

Viana-Errasti Julen, Marín Raúl, García-Mulero Sandra, Pons Tirso, Terradas Mariona, Capellá Gabriel, Moreno Victor, Mur Pilar, Valle Laura

Abstract excerpt

Polymerases ε and δ maintain genome integrity through exonuclease proofreading. Germline and somatic pathogenic variants (PVs) in the exonuclease domain (ED) of POLE and POLD1 impair proofreading, causing hypermutated tumors. Despite shared mutational features that make these tumors highly immunogenic, molecular and clinical distinctions between POLE and POLD1 mutations and between somatic and germline variants...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to BRCA gene mutations in cancer
Share to Cancer Genomics and Diagnostics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic factors in colorectal cancer

Source

Identifiers

PMID: 40680851
DOI: 10.1016/j.modpat.2025.100843

Genes

POLE
POLD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comparative Analysis of Somatic and Germline Polymerase Proofreading Deficiencies in Cancer: Molecular and Clinical ImplicationsPMID 40680851Read ↗

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

A panoply of errors: polymerase proofreading domain mutations in cancer.Semantic proximity Read ↗

From Subtle to Severe: Multiple Mechanisms Impair POLE and POLD1 Function leading to Distinct Effects on Mutation RatesSemantic proximity Read ↗

Beyond proofreading: POLD1 mutations as dynamic orchestrators of genomic instability and immune evasion in cancerSemantic proximity Read ↗

Mutational processes of distinct POLE exonuclease domain mutants drive an enrichment of a specific TP53 mutation in colorectal cancer.Semantic proximity Read ↗

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

DNA polymerase epsilon catalytic subunit (POLE) in cancer: Implications for tumor biology and therapeutic strategies - A comprehensive review.Semantic proximity Read ↗

Replicative DNA polymerase mutations in cancer.Semantic proximity Read ↗

DNA polymerase ε and δ variants drive mutagenesis in polypurine tracts in human tumors.Semantic proximity Read ↗

Mutational processes of distinct POLE exonuclease domain mutants drive an enrichment of a specific TP53 mutation in colorectal cancerSemantic proximity Read ↗

DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer.Semantic proximity Read ↗

Co-occurring mutations in the POLE exonuclease and non-exonuclease domains define a unique subset of highly mutagenic tumorsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.