Genetic & Genomic MedicineGeneticsPeer-reviewed
A maternal germline mutator phenotype in a family affected by heritable colorectal cancer
Candice Young, Annabel C. Beichman, David Mas-Ponte…·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.
8 citations