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 accessAbstract
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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Self-citationEvolution and impact of subclonal mutations in chronic lymphocytic leukemia
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“(45) (27) 2,000 (222) (169) (49) (33) P = 0.”
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Maftools: efficient and comprehensive analysis of somatic variants in cancer
Mayakonda, A., Lin, D.-C., Assenov, Y., Plass, C., & Koeffler, H. P. (2018) · Genome Research · doi:10.1101/gr.239244.118 · Cited by 4,935
The repertoire of mutational signatures in human cancer
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Self-citationNext-generation characterization of the Cancer Cell Line Encyclopedia
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Self-citationPan-cancer analysis of whole genomes
The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S.-M., Aikata, H., et al. (2020) · Nature · doi:10.1038/s41586-020-1969-6 · Cited by 3,064
Self-citationMutational signatures associated with tobacco smoking in human cancer
Alexandrov, L. B., Ju, Y. S., Haase, K., Van Loo, P., Martincorena, I., Nik-Zainal, S., Totoki, Y., Fujimoto, A., Nakagawa, H., Shibata, T., et al. (2016) · Science · doi:10.1126/science.aag0299 · Cited by 1,100
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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