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• W2023171799 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." @default.
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• W2023171799 date "2012-09-02" @default.
• W2023171799 modified "2023-10-09" @default.
• W2023171799 title "Comprehensive genomic analysis identifies SOX2 as a frequently amplified gene in small-cell lung cancer" @default.
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• W2023171799 doi "https://doi.org/10.1038/ng.2405" @default.
• W2023171799 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3557461" @default.
• W2023171799 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22941189" @default.
• W2023171799 hasPublicationYear "2012" @default.
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