Article

Adenomas from individuals with pathogenic biallelic variants in the<i>MUTYH</i>and<i>NTHL1</i>genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications

2024-08-09

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Colorectal cancers (CRCs) from people with biallelic germline likely pathogenic/pathogenic variants in MUTYH or NTHL1 exhibit specific single base substitution (SBS) mutational signatures, namely combined SBS18 and SBS36 (SBS18+SBS36), and SBS30, respectively. The aim was to determine if adenomas from biallelic cases demonstrated these mutational signatures at diagnostic level...

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Literature Corpus work: a3ac3f9c-32e3-5440-9e08-0a532a16c9be
DOI: 10.1101/2024.08.08.24311713

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