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Article

EXO1 variants occur commonly in normal population: evidence against a role in hereditary nonpolyposis colorectal cancer.

Cancer research - 1 Jan 2003

Jagmohan-Changur Shantie, Poikonen Taija, Vilkki Susa, Launonen Virpi, Wikman Friedrik, Orntoft Torben F, Møller Pål, Vasen Hans, Tops Carli, Kolodner Richard D, Mecklin Jukka-Pekka, Järvinen Heikki, Bevan Stephen, Houlston Richard S, Aaltonen Lauri A, Fodde Riccardo, Wijnen Juul, Karhu Auli

Abstract excerpt

Mutations in the currently known mismatch repair genes cannot explain all cases of hereditary nonpolyposis colorectal cancer (HNPCC), and novel predisposing genes are actively sought. Recently, mutations in the DNA repair gene EXO1 have been implicated in HNPCC. One truncating and several missense changes were observed in familial colorectal cancer (CRC) cases but not in controls. We evaluated a series of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12517792

Genes

EXO1

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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EXO1 variants occur commonly in normal population: evidence against a role in hereditary nonpolyposis colorectal cancer.PMID 12517792Read ↗

Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC formsSemantic proximity Read ↗

Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability.Semantic proximity Read ↗

Single nucleotide polymorphisms in the EXO1 gene and risk of colorectal cancer in a Japanese population.Semantic proximity Read ↗

Impact of EXO1 polymorphism in susceptibility to colorectal cancer.Semantic proximity Read ↗

Association of polymorphism of Lys589Glu Exo1 gene with the risk of colorectal cancer in the Polish population.Semantic proximity Read ↗

Associations between Nine Polymorphisms in EXO1 and Cancer Susceptibility: A Systematic Review and Meta-Analysis of 39 Case-control Studies.Semantic proximity Read ↗

The significance of Exo1 K589E polymorphism on cancer susceptibility: evidence based on a meta-analysis.Semantic proximity Read ↗

Potentially functional polymorphisms of EXO1 and risk of lung cancer in a Chinese population: A case-control analysis.Semantic proximity Read ↗

Functional alterations of human exonuclease 1 mutants identified in atypical hereditary nonpolyposis colorectal cancer syndrome.Semantic proximity Read ↗

Variation analysis of EXO1 gene in Chinese patients with premature ovarian failure.Semantic proximity Read ↗

Tumor progression in Apc(1638N) mice with Exo1 and Fen1 deficiencies.Semantic proximity Read ↗

Single-nucleotide polymorphism of the Exo1 gene: association with gastric cancer susceptibility and interaction with smoking in Taiwan.Semantic proximity Read ↗

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