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Cited by 413

The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.

Somatic ERCC2 mutations are associated with a distinct genomic signature in urothelial tumors

Open access
Kim, Jaegil, Mouw, Kent W, Polak, Paz, Braunstein, Lior Z, Kamburov, Atanas, Tiao, Grace, Kwiatkowski, David J, Rosenberg, Jonathan E, Van Allen, Eliezer M, D'Andrea, Alan D, Getz, Gad·2016·Nature Genetics

Abstract

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 association between somatic ERCC2 mutations and the activity of a mutational signature characterized by a broad spectrum of base changes. In addition, we note an association between the activity of this signature and smoking that is independent of ERCC2 mutation status, providing genomic evidence of tobacco-related mutagenesis in urothelial cancer. Together, these analyses identify an NER-related mutational signature and highlight the related roles of DNA damage and subsequent DNA repair in shaping tumor mutational landscape.

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Metadata

Authors
Kim, J., Mouw, K. W., Polak, P., Braunstein, L. Z., Kamburov, A., Tiao, G., Kwiatkowski, D. J., Rosenberg, J. E., Van Allen, E. M., D'Andrea, A. D., & Getz, G.
Venue
Nature Genetics
Published
2016-04-25
Volume
48
Issue
6
Pages
600-606
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
OpenAlex
W2343368549
Cited by
413
References
9
FWCI
15.77
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: Somatic ERCC2 mutations are associated with a distinct genomic signature in urothelial tumors. https://app.cochat.ai/papers/10.1038/ng.3557
The paper
Kim, J., Mouw, K. W., Polak, P., Braunstein, L. Z., Kamburov, A., Tiao, G., Kwiatkowski, D. J., Rosenberg, J. E., Van Allen, E. M., D'Andrea, A. D., & Getz, G. (2016). Somatic ERCC2 mutations are associated with a distinct genomic signature in urothelial tumors. Nature Genetics. https://doi.org/10.1038/ng.3557

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.