Ontology highlight
ABSTRACT:
SUBMITTER: Yurchenko AA
PROVIDER: S-EPMC7672101 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Yurchenko Andrey A AA Padioleau Ismael I Matkarimov Bakhyt T BT Soulier Jean J Sarasin Alain A Nikolaev Sergey S
Nature communications 20201117 1
Recent studies demonstrated a dramatically increased risk of leukemia in patients with a rare genetic disorder, Xeroderma Pigmentosum group C (XP-C), characterized by constitutive deficiency of global genome nucleotide excision repair (GG-NER). The genetic mechanisms of non-skin cancers in XP-C patients remain unexplored. In this study, we analyze a unique collection of internal XP-C tumor genomes including 6 leukemias and 2 sarcomas. We observe a specific mutational pattern and an average of 25 ...[more]