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.

Bibliografiset tiedot
Päätekijät: Andrey A. Yurchenko, Ismael Padioleau, Bakhyt T. Matkarimov, Jean Soulier, Alain Sarasin, Sergey Nikolaev
Aineistotyyppi: Artikkeli
Kieli:English
Julkaistu: Nature Portfolio 2020-11-01
Sarja:Nature Communications
Linkit:https://doi.org/10.1038/s41467-020-19633-9