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dc.contributor.authorBidinotto, LT
dc.contributor.authorTorrieri, R
dc.contributor.authorMackay, A
dc.contributor.authorAlmeida, GC
dc.contributor.authorViana-Pereira, M
dc.contributor.authorCruvinel-Carloni, A
dc.contributor.authorSpina, ML
dc.contributor.authorCampanella, NC
dc.contributor.authorPereira de Menezes, W
dc.contributor.authorClara, CA
dc.contributor.authorBecker, AP
dc.contributor.authorJones, C
dc.contributor.authorReis, RM
dc.date.accessioned2017-03-01T11:38:37Z
dc.date.issued2016-07-07
dc.identifier.citationG3 (Bethesda, Md.), 2016, 6 (7), pp. 1867 - 1878
dc.identifier.issn2160-1836
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/420
dc.identifier.eissn2160-1836
dc.identifier.doi10.1534/g3.116.029884
dc.description.abstractCopy number alterations (CNA) are one of the driving mechanisms of glioma tumorigenesis, and are currently used as important biomarkers in the routine setting. Therefore, we performed CNA profiling of 65 astrocytomas of distinct malignant grades (WHO grade I-IV) of Brazilian origin, using array-CGH and microsatellite instability analysis (MSI), and investigated their correlation with TERT and IDH1 mutational status and clinico-pathological features. Furthermore, in silico analysis using the Oncomine database was performed to validate our findings and extend the findings to gene expression level. We found that the number of genomic alterations increases in accordance with glioma grade. In glioblastomas (GBM), the most common alterations were gene amplifications (PDGFRA, KIT, KDR, EGFR, and MET) and deletions (CDKN2A and PTEN) Log-rank analysis correlated EGFR amplification and/or chr7 gain with better survival of the patients. MSI was observed in 11% of GBMs. A total of 69% of GBMs presented TERT mutation, whereas IDH1 mutation was most frequent in diffuse (85.7%) and anaplastic (100%) astrocytomas. The combination of 1p19q deletion and TERT and IDH1 mutational status separated tumor groups that showed distinct age of diagnosis and outcome. In silico validation pointed to less explored genes that may be worthy of future investigation, such as CDK2, DMRTA1, and MTAP Herein, using an extensive integrated analysis, we indicated potentially important genes, not extensively studied in gliomas, that could be further explored to assess their biological and clinical impact in astrocytomas.
dc.formatElectronic
dc.format.extent1867 - 1878
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.subjectHumans
dc.subjectAstrocytoma
dc.subjectGlioblastoma
dc.subjectBrain Neoplasms
dc.subjectIsocitrate Dehydrogenase
dc.subjectTelomerase
dc.subjectReceptor, Platelet-Derived Growth Factor alpha
dc.subjectVascular Endothelial Growth Factor Receptor-2
dc.subjectNeoplasm Proteins
dc.subjectTissue Array Analysis
dc.subjectGene Expression Regulation, Neoplastic
dc.subjectGene Dosage
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAged
dc.subjectMiddle Aged
dc.subjectChild
dc.subjectBrazil
dc.subjectFemale
dc.subjectMale
dc.subjectProto-Oncogene Proteins c-kit
dc.subjectProto-Oncogene Proteins c-met
dc.subjectCyclin-Dependent Kinase Inhibitor p16
dc.subjectCyclin-Dependent Kinase Inhibitor p18
dc.subjectPTEN Phosphohydrolase
dc.subjectMicrosatellite Instability
dc.subjectComparative Genomic Hybridization
dc.subjectNeoplasm Grading
dc.subjectErbB Receptors
dc.titleCopy Number Profiling of Brazilian Astrocytomas.
dc.typeJournal Article
dcterms.dateAccepted2016-04-23
rioxxterms.versionofrecord10.1534/g3.116.029884
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2016-07-07
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfG3 (Bethesda, Md.)
pubs.issue7
pubs.notesNot known
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Cancer Therapeutics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Cancer Therapeutics/Glioma Team
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Glioma Team
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Cancer Therapeutics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Cancer Therapeutics/Glioma Team
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Glioma Team
pubs.publication-statusPublished
pubs.volume6
pubs.embargo.termsNot known
icr.researchteamGlioma Teamen_US
dc.contributor.icrauthorJones, Chrisen
dc.contributor.icrauthorMackay, Alanen


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