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Germline haploinsufficiency for the base excision repair gene <i>MUTYH</i> causes mutational signature SBS18 in multiple tumour types, specifically leading to an increased risk of colorectal cancer

2025-11-20

Abstract excerpt

<h4> Abstract </h4> The MUTYH base excision repair protein corrects oxidative DNA damage. Bi-allelic germline MUTYH mutations cause a rare, Mendelian recessive syndrome of colorectal adenomas, duodenal polyps and colorectal cancer (CRC), in which tumours have excess somatic C:G>A:T mutations and the mutational signature SBS36. Signature SBS18, which resembles SBS36, is common in sporadic CRCs and other cancers....

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Literature Corpus work
3a4bb06e-a993-5a4c-9090-f8805846b6fd
DOI
10.1101/2025.11.20.25340655
Open publication

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Germline haploinsufficiency for the base excision repair gene <i>MUTYH</i> causes mutational signature SBS18 in multiple tumour types, specifically leading to an increased risk of colorectal cancerDOI 10.1101/2025.11.20.25340655
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