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Article

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

17 Nov 2020

Abstract excerpt

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...

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PMID: 33203900
DOI: 10.1038/s41467-020-19633-9

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