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Heterozygous germline <i>MSH3</i> mutations, and probably <i>MLH3</i> mutations, act as classical tumour suppressors, leading to excess somatic deletion mutations, signature ID4 and increased colorectal cancer risk

2026-07-24

Abstract excerpt

<h4>Background</h4> MSH3 and MLH3 are non-canonical DNA mismatch repair genes, involved in repairing insertion-deletion mutations. Colorectal cancer (CRC) and adenomas have been reported in patients with bi-allelic germline MSH3 mutations, and in a very few bi-allelic MLH3 mutation carriers. <h4>Objectives</h4> We hypothesised that germline loss-of-function MSH3 and MLH3 mutations were akin to constitution...

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Literature Corpus work
d22fb96f-981b-58fb-9fc9-d28806753a72
DOI
10.64898/2026.07.22.26358679
Open publication

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Heterozygous germline <i>MSH3</i> mutations, and probably <i>MLH3</i> mutations, act as classical tumour suppressors, leading to excess somatic deletion mutations, signature ID4 and increased colorectal cancer riskDOI 10.64898/2026.07.22.26358679
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