Article

Saturation mapping of <i>MUTYH</i> variant effects using DNA repair reporters

2025-03-06

Abstract excerpt

Variants of uncertain significance (VUS) limit the actionability of genetic testing. A prominent example is MUTYH , a base excision repair factor associated with polyposis and colorectal cancer, which has a pathogenic variant carrier rate approaching 1 in 50 individuals in some populations. To systematically interrogate variant function in MUTYH , we coupled deep mutational scanning with a DNA repair reporter co...

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Literature Corpus work: c11327ac-c811-5036-b6d8-c8023c3f273d
DOI: 10.1101/2025.03.01.640912

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