Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1

Abstract Background Germline variants affecting the proofreading activity of polymerases epsilon and delta cause a hereditary cancer and adenomatous polyposis syndrome characterized by tumors with a high mutational burden and a specific mutational spectrum. In addition to the implementation of multi...

Full description

Bibliographic Details
Main Authors: Pilar Mur, Julen Viana-Errasti, Sandra García-Mulero, Lorena Magraner-Pardo, Inés G. Muñoz, Tirso Pons, Gabriel Capellá, Marta Pineda, Lidia Feliubadaló, Laura Valle
Format: Article
Language:English
Published: BMC 2023-10-01
Series:Genome Medicine
Subjects:
Polymerase proofreading-associated polyposis
PPAP
Polymerase epsilon
Polymerase delta
Proofreading deficiency
Mutational signatures
Online Access:https://doi.org/10.1186/s13073-023-01234-y

Internet

https://doi.org/10.1186/s13073-023-01234-y

Similar Items