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dc.contributor.authorLabreche, K
dc.contributor.authorKinnersley, B
dc.contributor.authorBerzero, G
dc.contributor.authorDi Stefano, AL
dc.contributor.authorRahimian, A
dc.contributor.authorDetrait, I
dc.contributor.authorMarie, Y
dc.contributor.authorGrenier-Boley, B
dc.contributor.authorHoang-Xuan, K
dc.contributor.authorDelattre, J-Y
dc.contributor.authorIdbaih, A
dc.contributor.authorHoulston, RS
dc.contributor.authorSanson, M
dc.date.accessioned2018-04-04T08:17:49Z
dc.date.issued2018-05
dc.identifier.citationActa neuropathologica, 2018, 135 (5), pp. 743 - 755
dc.identifier.issn0001-6322
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/1624
dc.identifier.eissn1432-0533
dc.identifier.doi10.1007/s00401-018-1825-z
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.
dc.formatPrint-Electronic
dc.format.extent743 - 755
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.subjectChromosomes, Human, Pair 1
dc.subjectChromosomes, Human, Pair 19
dc.subjectHumans
dc.subjectGlioma
dc.subjectBrain Neoplasms
dc.subjectGenetic Predisposition to Disease
dc.subjectIsocitrate Dehydrogenase
dc.subjectTelomerase
dc.subjectProto-Oncogene Proteins c-myc
dc.subjectRNA, Messenger
dc.subjectCase-Control Studies
dc.subjectMutation
dc.subjectPolymorphism, Single Nucleotide
dc.subjectEuropean Continental Ancestry Group
dc.subjectStathmin
dc.subjectPromoter Regions, Genetic
dc.subjectGenetic Loci
dc.subjectGenetic Association Studies
dc.subjectPreliminary Data
dc.titleDiffuse gliomas classified by 1p/19q co-deletion, TERT promoter and IDH mutation status are associated with specific genetic risk loci.
dc.typeJournal Article
dcterms.dateAccepted2018-02-14
rioxxterms.versionofrecord10.1007/s00401-018-1825-z
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2018-05
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfActa neuropathologica
pubs.issue5
pubs.notesNo embargo
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.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-statusPublished
pubs.volume135
pubs.embargo.termsNo embargo
icr.researchteamCancer Genomicsen_US
dc.contributor.icrauthorHoulston, Richarden
dc.contributor.icrauthorKinnersley, Benjaminen


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