Somatic ERCC2 Mutations Are Associated with a Distinct Genomic Signature in Urothelial Tumors

@inproceedings{Kim2016SomaticEM,
  title={Somatic ERCC2 Mutations Are Associated with a Distinct Genomic Signature in Urothelial Tumors},
  author={Jaegil Kim and Kent W. Mouw and Paz Polak and Lior Z. Braunstein and Atanas Kamburov and D. J. Kwiatkowski and Jonathan E Rosenberg and Eliezer M Van Allen and Alan D D'Andrea and Gad Getz},
  booktitle={Nature Genetics},
  year={2016}
}
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. Analysis of three independent urothelial tumor cohorts demonstrates a strong… CONTINUE READING