A maternal germline mutator phenotype in a family affected by heritable colorectal cancer
Candice Young, Annabel C. Beichman, David Mas-Ponte, Shelby L. Hemker, Luke Zhu, Jacob Otto Kitzman, Brian H. Shirts, Kelley Harris
The paper measures germline mutation rates in a family with MUTYH pathogenic variants, finding elevated C>A mutations in children of affected mothers but not fathers, suggesting maternal-specific mutator effects.
Genetics · Oct 15, 2024Peer-reviewedGenetic & Genomic Medicine