The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Spectrum of diverse genomic alterations define non–clear cell renal carcinoma subtypes
Open accessAbstract
To further understand the molecular distinctions between kidney cancer subtypes, we analyzed exome, transcriptome and copy number alteration data from 167 primary human tumors that included renal oncocytomas and non–clear cell renal cell carcinomas (nccRCCs), consisting of papillary (pRCC), chromophobe (chRCC) and translocation (tRCC) subtypes. We identified ten significantly mutated genes in pRCC, including MET, NF2, SLC5A3, PNKD and CPQ. MET mutations occurred in 15% (10/65) of pRCC samples and included previously unreported recurrent activating mutations. In chRCC, we found TP53, PTEN, FAAH2, PDHB, PDXDC1 and ZNF765 to be significantly mutated. Gene expression analysis identified a five-gene set that enabled the molecular classification of chRCC, renal oncocytoma and pRCC. Using RNA sequencing, we identified previously unreported gene fusions, including ACTG1-MITF fusion. Ectopic expression of the ACTG1-MITF fusion led to cellular transformation and induced the expression of downstream target genes. Finally, we observed upregulation of the anti-apoptotic factor BIRC7 in MiTF-high RCC tumors, suggesting a potential therapeutic role for BIRC7 inhibitors.
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Lawrence, M. S., Stojanov, P., Polak, P., Kryukov, G. V., Cibulskis, K., Sivachenko, A., Carter, S. L., Stewart, C., Mermel, C. H., Roberts, S. A., et al. (2013) · Nature · doi:10.1038/nature12213 · Cited by 5,461
Comprehensive molecular characterization of clear cell renal cell carcinoma
The Cancer Genome Atlas Research Network (2013) · Nature · doi:10.1038/nature12222 · Cited by 3,485
Fast and SNP-tolerant detection of complex variants and splicing in short reads
Wu, T. D., & Nacu, S. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq057 · Cited by 1,894
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Croft, D., O'Kelly, G., Wu, G., Haw, R., Gillespie, M., Matthews, L., Caudy, M., Garapati, P., Gopinath, G., Jassal, B., et al. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkq1018 · Cited by 1,751
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Jeon, S.-M., Chandel, N. S., & Hay, N. (2012) · Nature · doi:10.1038/nature11066 · Cited by 1,132
Recurrent R-spondin fusions in colon cancer
Seshagiri, S., Stawiski, E. W., Durinck, S., Modrusan, Z., Storm, E. E., Conboy, C. B., Chaudhuri, S., Guan, Y., Janakiraman, V., Jaiswal, B. S., et al. (2012) · Nature · doi:10.1038/nature11282 · Cited by 960
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Kong, Y., Rose, C. M., Cass, A. A., Williams, A. G., Darwish, M., Lianoglou, S., Haverty, P. M., Tong, A.-J., Blanchette, C., Albert, M. L., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-13035-2 · Cited by 285
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Metadata
- Authors
- Durinck, S., Stawiski, E. W., Pavía-Jiménez, A., Modrusan, Z., Kapur, P., Jaiswal, B. S., Zhang, N., Toffessi-Tcheuyap, V., Nguyen, T. T., Pahuja, K. B., Chen, Y.-J., Saleem, S., Chaudhuri, S., Heldens, S., Jackson, M., Peña-Llopis, S., Guillory, J., Toy, K., Ha, C., Harris, C. J., Holloman, E., Hill, H. M., Stinson, J., Rivers, C. S., Janakiraman, V., Wang, W., Kinch, L. N., Grishin, N. V., Haverty, P. M., Chow, B., Gehring, J. S., Reeder, J., Pau, G., Wu, T. D., Margulis, V., Lotan, Y., Sagalowsky, A., Pedrosa, I., de Sauvage, F. J., Brugarolas, J., & Seshagiri, S.
- Venue
- Nature Genetics
- Published
- 2014-11-17
- Volume
- 47
- Issue
- 1
- Pages
- 13-21
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2068059571
- Cited by
- 357
- References
- 7
- FWCI
- 25.20
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Spectrum of diverse genomic alterations define non–clear cell renal carcinoma subtypes. https://app.cochat.ai/papers/10.1038/ng.3146
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- Durinck, S., Stawiski, E. W., Pavía-Jiménez, A., Modrusan, Z., Kapur, P., Jaiswal, B. S., Zhang, N., Toffessi-Tcheuyap, V., Nguyen, T. T., Pahuja, K. B., Chen, Y.-J., Saleem, S., Chaudhuri, S., Heldens, S., Jackson, M., Peña-Llopis, S., Guillory, J., Toy, K., Ha, C., . . . Seshagiri, S. (2015). Spectrum of diverse genomic alterations define non–clear cell renal carcinoma subtypes. Nature Genetics. https://doi.org/10.1038/ng.3146
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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.
