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POLE, POLD1, and NTHL1: the last but not the least hereditary cancer-predisposing genes.

Oncogene - 1 Oct 2021

Magrin Luigi, Fanale Daniele, Brando Chiara, Fiorino Alessia, Corsini Lidia Rita, Sciacchitano Roberta, Filorizzo Clarissa, Dimino Alessandra, Russo Antonio, Bazan Viviana

Abstract excerpt

POLE, POLD1, and NTHL1 are involved in DNA replication and have recently been recognized as hereditary cancer-predisposing genes, because their alterations are associated with colorectal cancer and other tumors. POLE/POLD1-associated syndrome shows an autosomal dominant inheritance, whereas NTHL1-associated syndrome follows an autosomal recessive pattern. Although the prevalence of germline monoallelic POLE/POLD1...

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Identifiers

PMID: 34363023
DOI: 10.1038/s41388-021-01984-2

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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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