Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.

doi:10.1038/s41467-022-31341-0

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Article

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.

Nature communications - 8 Jul 2022

Robinson Philip S, Thomas Laura E, Abascal Federico, Jung Hyunchul, Harvey Luke M R, West Hannah D, Olafsson Sigurgeir, Lee Bernard C H, Coorens Tim H H, Lee-Six Henry, Butlin Laura, Lander Nicola, Truscott Rebekah, Sanders Mathijs A, Lensing Stefanie V, Buczacki Simon J A, Ten Hoopen Rogier, Coleman Nicholas, Brunton-Sim Roxanne, Rushbrook Simon, Saeb-Parsy Kourosh, Lalloo Fiona, Campbell Peter J, Martincorena Iñigo, Sampson Julian R, Stratton Michael R

Abstract excerpt

Cellular DNA damage caused by reactive oxygen species is repaired by the base excision repair (BER) pathway which includes the DNA glycosylase MUTYH. Inherited biallelic MUTYH mutations cause predisposition to colorectal adenomas and carcinoma. However, the mechanistic progression from germline MUTYH mutations to MUTYH-Associated Polyposis (MAP) is incompletely understood. Here, we sequence normal tissue DNAs...

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Identifiers

PMID: 35803914
DOI: 10.1038/s41467-022-31341-0
PMCID: PMC9270427

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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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