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Article

Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk.

Molecular genetics and genomics : MGG - 1 May 2023

Rocque Mariève J, Leipart Vilde, Kumar Singh Ashish, Mur Pilar, Olsen Maren F, Engebretsen Lars F, Martin-Ramos Edgar, Aligué Rosa, Sætrom Pål, Valle Laura, Drabløs Finn, Otterlei Marit, Sjursen Wenche

Abstract excerpt

The cancer syndrome polymerase proofreading-associated polyposis results from germline mutations in the POLE and POLD1 genes. Mutations in the exonuclease domain of these genes are associated with hyper- and ultra-mutated tumors with a predominance of base substitutions resulting from faulty proofreading during DNA replication. When a new variant is identified by gene testing of POLE and POLD1, it is important to...

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Identifiers

PMID: 36856825
DOI: 10.1007/s00438-023-02000-w
PMCID: PMC10133059

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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