Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells
Philip S. Robinson, Laura E. Thomas, Federico Abascal, Hyunchul Jung, Luke M. R. Harvey, Hannah D. West, Sigurgeir Ólafsson, Bernard C. H. Lee, Tim H. H. Coorens, Henry Lee-Six, Laura Butlin, Nicola Lander, Rebekah Truscott, Mathijs Arnoud Sanders, Stefanie V. Lensing, , Michael R. Stratton
This study shows that inherited MUTYH mutations increase somatic mutation rates and specific mutational signatures in normal human cells, contributing to cancer risk without causing premature aging.
Nature Communications · Jul 8, 2022Peer-reviewedGenomics