ArticleAmerican journal of human genetics2025
Saturation mapping of MUTYH variant effects using DNA repair reporters.
Article in American journal of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Dynamics of mutators of arbitrary dominance in humans.bioRxiv : the preprint server for biology · 2026Article
- Allele frequencies at recessive disease genes are mainly determined by pleiotropic effects in heterozygotes.Genetics · 2026Article
- Reclassification ofCurrent oncology (Toronto, Ont.) · 2026Article
- DNA Damage Recognition by Bacterial and Human Adenine-DNA Glycosylases: Insights from Non-Canonical Substrates.Biomolecules · 2026Article
- MUTYH Cancer-Associated Variants Within the Interdomain Connector Differentially Impact Glycosylase Activity and Cellular DNA Repair.Chembiochem : a European journal of chemical biology · 2026Article
- Germline pathogenic variant spectrum and prevalence among colorectal cancer patients undergoing multigene panel testing in Kazakhstan.Scientific reports · 2026Article
- Microproteins in Human Physiology and Pathology.Biochemistry · 2026Review
- Determining the intra-residue correlation of missense variant impact using MAVE scores: implications for the ACMG/AMP PM5 criterion for DNA variant classification.Genome medicine · 2026Article
- High-throughput mapping of 6,888bioRxiv : the preprint server for biology · 2026Article
- First report of MUTYH-associated polyposis with c.1353_1355del and c.452A>G mutations in Tolima Grande region from Colombia: a case report.Frontiers in oncology · 2026Article
- Allele Frequencies at Recessive Disease Genes are Mainly Determined by Pleiotropic Effects in Heterozygotes.bioRxiv : the preprint server for biology · 2025Article
- Comprehensive Measurement of Inter-Individual Variation in DNA Repair Capacity in Healthy Individuals.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
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8 authors.
Funding
Abstract
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 possible MUTYH point variants (n = 10,941) and achieves 100% accuracy on known clinical variants (n = 247). Leveraging a large clinical registry, we observe significant associations with colorectal polyps and cancer, with more severely impaired missense variants conferring greater risk. We recapitulate functional differences between pathogenic founder alleles and highlight sites of complete missense intolerance, including residues that intercalate DNA and coordinate essential Zn
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