Nonhypermutator cancers access driver mutations through reversals in germline mutational bias

Cancer is an evolutionary disease driven by mutations in asexually reproducing somatic cells. In asexual microbes, bias reversals in the mutation spectrum can speed adaptation by increasing access to previously undersampled beneficial mutations. By analyzing tumors from 20 tissues, along with normal...

Descripción completa

Detalles Bibliográficos
Autores: Tuffaha, Marwa Z., Castellano Esteve, David, Serrano Colomé, Clàudia, Gutenkunst, Ryan N., Wahl, Lindi M.
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2025
País:España
Institución:Universitat Pompeu Fabra
Repositorio:Repositorio Digital de la UPF
OAI Identifier:oai:repositori.upf.edu:10230/71158
Acceso en línea:http://hdl.handle.net/10230/71158
http://dx.doi.org/10.1093/molbev/msaf105
Access Level:acceso abierto
Palabra clave:Cancer
Hypermutator
Hypoxia
Mutation bias
Mutation spectrum
Positive selection
Descripción
Sumario:Cancer is an evolutionary disease driven by mutations in asexually reproducing somatic cells. In asexual microbes, bias reversals in the mutation spectrum can speed adaptation by increasing access to previously undersampled beneficial mutations. By analyzing tumors from 20 tissues, along with normal tissue and the germline, we demonstrate this effect in cancer. Nonhypermutated tumors reverse the germline mutation bias and have consistent spectra across tissues. These spectra changes carry the signature of hypoxia, and they facilitate positive selection in cancer genes. Hypermutated and nonhypermutated tumors thus acquire driver mutations differently: hypermutated tumors by higher mutation rates and nonhypermutated tumors by changing the mutation spectrum to reverse the germline mutation bias.