Article
Somatic ERCC2 mutations are associated with a distinct genomic signature in urothelial tumors.
Nature genetics - 1 Jun 2016
Kim Jaegil, Mouw Kent W, Polak Paz, Braunstein Lior Z, Kamburov Atanas, Kwiatkowski David J, Rosenberg Jonathan E, Van Allen Eliezer M, D'Andrea Alan, Getz Gad
Abstract excerpt
Alterations in DNA repair pathways are common in tumors and can result in characteristic mutational signatures; however, a specific mutational signature associated with somatic alterations in the nucleotide- excision repair (NER) pathway has not yet been identified. Here we examine the mutational processes operating in urothelial cancer, a tumor type in which the core NER gene ERCC2 is significantly mutated....
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