Article

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

2019-12-15

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Objective</h4> 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. <h4>Design</h4> Whole exome sequencing of formalin-fixed pa...

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Literature Corpus work: be61f9be-5150-538f-8051-eaca8d967e32
DOI: 10.1101/2019.12.11.19014597

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