Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers.

doi:10.1136/gutjnl-2019-320462

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Article

Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers.

Gut - 1 Nov 2021

Georgeson Peter, Pope Bernard J, Rosty Christophe, Clendenning Mark, Mahmood Khalid, Joo Jihoon E, Walker Romy, Hutchinson Ryan A, Preston Susan, Como Julia, Joseland Sharelle, Win Aung Ko, Macrae Finlay A, Hopper John L, Mouradov Dmitri, Gibbs Peter, Sieber Oliver M, O'Sullivan Dylan E, Brenner Darren R, Gallinger Steve, Jenkins Mark A, Winship Ingrid M, Buchanan Daniel D

Abstract excerpt

OBJECTIVE: Germline pathogenic variants (PVs) in the DNA mismatch repair (MMR) genes and in the base excision repair gene MUTYH underlie hereditary colorectal cancer (CRC) and polyposis syndromes. We evaluated the robustness and discriminatory potential of tumour mutational signatures in CRCs for identifying germline PV carriers. DESIGN: Whole-exome sequencing of formalin-fixed paraffin-embedded (FFPE) CRC tissue...

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Identifiers

PMID: 33414168
DOI: 10.1136/gutjnl-2019-320462
PMCID: PMC8260632

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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