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| Home > Articles > Published articles > In silico validation of RNA-Seq results can identify gene fusions with oncogenic potential in glioblastoma |
(Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) (Universitat Pompeu Fabra) (Institut Hospital del Mar d'Investigacions Mèdiques) (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) (Institut d'Investigacions Biomèdiques August Pi i Sunyer) (Institut Hospital del Mar d'Investigacions Mèdiques) (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) (Universitat Pompeu Fabra) (Hospital Universitari de Girona Doctor Josep Trueta) (Institut d'Investigació Biomèdica Sant Pau) (Universitat Pompeu Fabra) (Institut Hospital del Mar d'Investigacions Mèdiques) (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) (Universitat de Barcelona) (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer)| Date: | 2022 |
| Abstract: | RNA-Sequencing (RNA-Seq) can identify gene fusions in tumors, but not all these fusions have functional consequences. Using multiple data bases, we have performed an in silico analysis of fusions detected by RNA-Seq in tumor samples from 139 newly diagnosed glioblastoma patients to identify in-frame fusions with predictable oncogenic potential. Among 61 samples with fusions, there were 103 different fusions, involving 167 different genes, including 20 known oncogenes or tumor suppressor genes (TSGs), 16 associated with cancer but not oncogenes or TSGs, and 32 not associated with cancer but previously shown to be involved in fusions in gliomas. After selecting in-frame fusions able to produce a protein product and running Oncofuse, we identified 30 fusions with predictable oncogenic potential and classified them into four non-overlapping categories: six previously described in cancer; six involving an oncogene or TSG; four predicted by Oncofuse to have oncogenic potential; and 14 other in-frame fusions. Only 24 patients harbored one or more of these 30 fusions, and only two fusions were present in more than one patient: FGFR3::TACC3 and EGFR::SEPTIN14. This in silico study provides a good starting point for the identification of gene fusions with functional consequences in the pathogenesis or treatment of glioblastoma. |
| Grants: | Instituto de Salud Carlos III CM19/00068 Instituto de Salud Carlos III INT19/00032 Instituto de Salud Carlos III PI18_01062 Ministerio de Economía y Competitividad PT17/0009/0019 |
| Note: | Altres ajuts: Fundació La Marató de TV3 (665/C/2013) |
| Rights: | Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.  |
| Language: | Anglès |
| Document: | Article ; recerca ; Versió publicada |
| Subject: | Carcinogenesis ; Gene Fusion ; Glioblastoma ; Glioma ; Humans ; Microtubule-Associated Proteins ; Oncogene Proteins, Fusion ; RNA-Seq |
| Published in: | Scientific reports, Vol. 12 Núm. 1 (december 2022) , p. 14439, ISSN 2045-2322 |
