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Article

Pan-Cancer Interrogation of MUTYH Variants Reveals Biallelic Inactivation and Defective Base Excision Repair Across a Spectrum of Solid Tumors.

JCO precision oncology - 1 Feb 2024

Paller Channing J, Tukachinsky Hanna, Maertens Alexandra, Decker Brennan, Sampson Julian R, Cheadle Jeremy P, Antonarakis Emmanuel S

Abstract excerpt

PURPOSE: Biallelic germline pathogenic variants of the base excision repair (BER) pathway gene MUTYH predispose to colorectal cancer (CRC) and other cancers. The possible association of heterozygous variants with broader cancer susceptibility remains uncertain. This study investigated the prevalence and consequences of pathogenic MUTYH variants and MUTYH loss of heterozygosity (LOH) in a large pan-cancer...

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Identifiers

PMID: 38394468
DOI: 10.1200/PO.23.00251
PMCID: PMC10901435

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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Pan-Cancer Interrogation of MUTYH Variants Reveals Biallelic Inactivation and Defective Base Excision Repair Across a Spectrum of Solid Tumors.PMID 38394468Read ↗

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