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dc.contributor.authorLabreche, Ken_US
dc.contributor.authorKinnersley, Ben_US
dc.contributor.authorBerzero, Gen_US
dc.contributor.authorDi Stefano, ALen_US
dc.contributor.authorRahimian, Aen_US
dc.contributor.authorDetrait, Ien_US
dc.contributor.authorMarie, Yen_US
dc.contributor.authorGrenier-Boley, Ben_US
dc.contributor.authorHoang-Xuan, Ken_US
dc.contributor.authorDelattre, J-Yen_US
dc.contributor.authorIdbaih, Aen_US
dc.contributor.authorHoulston, RSen_US
dc.contributor.authorSanson, Men_US
dc.date.accessioned2018-04-04T08:17:49Z
dc.date.issued2018-05en_US
dc.identifier.citationActa neuropathologica, 2018, 135 (5), pp. 743 - 755en_US
dc.identifier.issn0001-6322en_US
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/1624
dc.identifier.eissn1432-0533en_US
dc.identifier.doi10.1007/s00401-018-1825-zen_US
dc.description.abstractRecent genome-wide association studies of glioma have led to the discovery of single nucleotide polymorphisms (SNPs) at 25 loci influencing risk. Gliomas are heterogeneous, hence to investigate the relationship between risk SNPs and glioma subtype we analysed 1659 tumours profiled for IDH mutation, TERT promoter mutation and 1p/19q co-deletion. These data allowed definition of five molecular subgroups of glioma: triple-positive (IDH mutated, 1p/19q co-deletion, TERT promoter mutated); TERT-IDH (IDH mutated, TERT promoter mutated, 1p/19q-wild-type); IDH-only (IDH mutated, 1p/19q wild-type, TERT promoter wild-type); triple-negative (IDH wild-type, 1p/19q wild-type, TERT promoter wild-type) and TERT-only (TERT promoter mutated, IDH wild-type, 1p/19q wild-type). Most glioma risk loci showed subtype specificity: (1) the 8q24.21 SNP for triple-positive glioma; (2) 5p15.33, 9p21.3, 17p13.1 and 20q13.33 SNPs for TERT-only glioma; (3) 1q44, 2q33.3, 3p14.1, 11q21, 11q23.3, 14q12, and 15q24.2 SNPs for IDH mutated glioma. To link risk SNPs to target candidate genes we analysed Hi-C and gene expression data, highlighting the potential role of IDH1 at 2q33.3, MYC at 8q24.21 and STMN3 at 20q13.33. Our observations provide further insight into the nature of susceptibility to glioma.en_US
dc.formatPrint-Electronicen_US
dc.format.extent743 - 755en_US
dc.languageengen_US
dc.language.isoengen_US
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en_US
dc.subjectChromosomes, Human, Pair 1en_US
dc.subjectChromosomes, Human, Pair 19en_US
dc.subjectHumansen_US
dc.subjectGliomaen_US
dc.subjectBrain Neoplasmsen_US
dc.subjectGenetic Predisposition to Diseaseen_US
dc.subjectIsocitrate Dehydrogenaseen_US
dc.subjectTelomeraseen_US
dc.subjectProto-Oncogene Proteins c-mycen_US
dc.subjectRNA, Messengeren_US
dc.subjectCase-Control Studiesen_US
dc.subjectMutationen_US
dc.subjectPolymorphism, Single Nucleotideen_US
dc.subjectEuropean Continental Ancestry Groupen_US
dc.subjectStathminen_US
dc.subjectPromoter Regions, Geneticen_US
dc.subjectGenetic Locien_US
dc.subjectGenetic Association Studiesen_US
dc.subjectPreliminary Dataen_US
dc.titleDiffuse gliomas classified by 1p/19q co-deletion, TERT promoter and IDH mutation status are associated with specific genetic risk loci.en_US
dc.typeJournal Article
dcterms.dateAccepted2018-02-14en_US
rioxxterms.versionofrecord10.1007/s00401-018-1825-zen_US
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0en_US
rioxxterms.licenseref.startdate2018-05en_US
rioxxterms.typeJournal Article/Reviewen_US
dc.relation.isPartOfActa neuropathologicaen_US
pubs.issue5en_US
pubs.notesNo embargoen_US
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/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Cancer Genomics
pubs.publication-statusPublisheden_US
pubs.volume135en_US
pubs.embargo.termsNo embargoen_US
icr.researchteamCancer Genomicsen_US
dc.contributor.icrauthorHoulston, Richarden_US
dc.contributor.icrauthorKinnersley, Benjaminen_US


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