Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair.

doi:10.1038/s41467-018-04002-4

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Article

Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair.

Nature communications - 1 May 2018

Haradhvala N J, Kim J, Maruvka Y E, Polak P, Rosebrock D, Livitz D, Hess J M, Leshchiner I, Kamburov A, Mouw K W, Lawrence M S, Getz G

Abstract excerpt

Fidelity of DNA replication is maintained using polymerase proofreading and the mismatch repair pathway. Tumors with loss of function of either mechanism have elevated mutation rates with characteristic mutational signatures. Here we report that tumors with concurrent loss of both polymerase proofreading and mismatch repair function have mutational patterns that are not a simple sum of the signatures of the...

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PMID: 29717118
DOI: 10.1038/s41467-018-04002-4
PMCID: PMC5931517

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.