XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature

Xeroderma Pigmentosum group C (XP-C) is a rare genetic disorder characterised by deficient DNA repair leading to skin and internal cancer, but the latter is not well understood molecularly. Here the authors sequence genomes of non-skin cancers from XP-C patients to unravel its mutational patterns.

Bibliographic Details
Main Authors: Andrey A. Yurchenko, Ismael Padioleau, Bakhyt T. Matkarimov, Jean Soulier, Alain Sarasin, Sergey Nikolaev
Format: Article
Language:English
Published: Nature Publishing Group 2020-11-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-020-19633-9