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The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.

Comprehensive genomic analysis identifies SOX2 as a frequently amplified gene in small-cell lung cancer

Open access
Rudin, Charles M, Durinck, Steffen, Stawiski, Eric W, Poirier, John T, Modrusan, Zora, Shames, David S, Bergbower, Emily A, Guan, Yinghui, Shin, James, Guillory, Joseph, Rivers, Celina Sanchez, Foo, Catherine K, Bhatt, Deepali, Stinson, Jeremy, Gnad, Florian, Haverty, Peter M, Gentleman, Robert, Chaudhuri, Subhra, Janakiraman, Vasantharajan, Jaiswal, Bijay S, Parikh, Chaitali, Yuan, Wenlin, Zhang, Zemin, Koeppen, Hartmut, Wu, Thomas D, Stern, Howard M, Yauch, Robert L, Huffman, Kenneth E, Paskulin, Diego D, Illei, Peter B, Varella-Garcia, Marileila, Gazdar, Adi F, de Sauvage, Frederic J, Bourgon, Richard, Minna, John D, Brock, Malcolm V, Seshagiri, Somasekar·2012·Nature Genetics
DOI 10.1038/ng.2405
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Abstract

Small-cell lung cancer (SCLC) is an exceptionally aggressive disease with poor prognosis. Here, we obtained exome, transcriptome and copy-number alteration data from approximately 53 samples consisting of 36 primary human SCLC and normal tissue pairs and 17 matched SCLC and lymphoblastoid cell lines. We also obtained data for 4 primary tumors and 23 SCLC cell lines. We identified 22 significantly mutated genes in SCLC, including genes encoding kinases, G protein–coupled receptors and chromatin-modifying proteins. We found that several members of the SOX family of genes were mutated in SCLC. We also found SOX2 amplification in ∼27% of the samples. Suppression of SOX2 using shRNAs blocked proliferation of SOX2-amplified SCLC lines. RNA sequencing identified multiple fusion transcripts and a recurrent RLF-MYCL1 fusion. Silencing of MYCL1 in SCLC cell lines that had the RLF-MYCL1 fusion decreased cell proliferation. These data provide an in-depth view of the spectrum of genomic alterations in SCLC and identify several potential targets for therapeutic intervention.

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Authors
Rudin, C. M., Durinck, S., Stawiski, E. W., Poirier, J. T., Modrusan, Z., Shames, D. S., Bergbower, E. A., Guan, Y., Shin, J., Guillory, J., Rivers, C. S., Foo, C. K., Bhatt, D., Stinson, J., Gnad, F., Haverty, P. M., Gentleman, R., Chaudhuri, S., Janakiraman, V., Jaiswal, B. S., Parikh, C., Yuan, W., Zhang, Z., Koeppen, H., Wu, T. D., Stern, H. M., Yauch, R. L., Huffman, K. E., Paskulin, D. D., Illei, P. B., Varella-Garcia, M., Gazdar, A. F., de Sauvage, F. J., Bourgon, R., Minna, J. D., Brock, M. V., & Seshagiri, S.
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2012-09-02
Volume
44
Issue
10
Pages
1111-1116
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
DOI
10.1038/ng.2405
OpenAlex
W2023171799
Cited by
1,077
References
7
FWCI
34.37
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: Comprehensive genomic analysis identifies SOX2 as a frequently amplified gene in small-cell lung cancer. https://app.cochat.ai/papers/10.1038/ng.2405
The paper
Rudin, C. M., Durinck, S., Stawiski, E. W., Poirier, J. T., Modrusan, Z., Shames, D. S., Bergbower, E. A., Guan, Y., Shin, J., Guillory, J., Rivers, C. S., Foo, C. K., Bhatt, D., Stinson, J., Gnad, F., Haverty, P. M., Gentleman, R., Chaudhuri, S., Janakiraman, V., . . . Seshagiri, S. (2012). Comprehensive genomic analysis identifies SOX2 as a frequently amplified gene in small-cell lung cancer. Nature Genetics. https://doi.org/10.1038/ng.2405

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

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