Article
Saturation mapping of MUTYH variant effects using DNA repair reporters.
American journal of human genetics - 4 Sept 2025
Hemker Shelby L, Marsh Ashley, Hernandez Felicia, Glick Elena, Clark Grace, Bashir Alyssa, Jiang Krystal, Kitzman Jacob O
Abstract excerpt
Variants of uncertain significance (VUSs) limit the actionability of genetic testing. A prominent example is MUTYH, a DNA repair factor underlying colorectal cancer with a pathogenic variant carrier rate of ∼1:50. To systematically interrogate MUTYH variant function, we coupled deep mutational scanning to DNA repair reporters containing its lesion substrate, 8OG:A. Our variant-to-function map covers 96.6% of...
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