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Article

Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair.

Carcinogenesis - 1 Nov 2005

Parker Antony R, Sieber Oliver M, Shi Chanjuan, Hua Li, Takao Masashi, Tomlinson Ian P, Eshleman James R

Abstract excerpt

Inherited biallelic mutations in the human MUTYH gene are responsible for the recessive syndrome--adenomatous colorectal polyposis (MUTYH associated polyposis, MAP)--which significantly increases the risk of colorectal cancer (CRC). Defective MUTYH activity causes G:C to T:A transversions in tumour APC and other genes thereby altering genomic integrity. We report that of the four established cell lines, derived...

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Source

Identifiers

PMID: 15987719
DOI: 10.1093/carcin/bgi166

Genes

MUTYH
APC

Variants

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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Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair.PMID 15987719Read ↗

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MUTYH-associated polyposis--from defect in base excision repair to clinical genetic testing.Semantic proximity Read ↗

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