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

oleh: Andrey A. Yurchenko, Ismael Padioleau, Bakhyt T. Matkarimov, Jean Soulier, Alain Sarasin, Sergey Nikolaev

Format: Article
Diterbitkan: Nature Portfolio 2020-11-01

Deskripsi

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.