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dc.contributor.authorVijayakrishnan, J
dc.contributor.authorQian, M
dc.contributor.authorStudd, JB
dc.contributor.authorYang, W
dc.contributor.authorKinnersley, B
dc.contributor.authorLaw, PJ
dc.contributor.authorBroderick, P
dc.contributor.authorRaetz, EA
dc.contributor.authorAllan, J
dc.contributor.authorPui, C-H
dc.contributor.authorVora, A
dc.contributor.authorEvans, WE
dc.contributor.authorMoorman, A
dc.contributor.authorYeoh, A
dc.contributor.authorYang, W
dc.contributor.authorLi, C
dc.contributor.authorBartram, CR
dc.contributor.authorMullighan, CG
dc.contributor.authorZimmerman, M
dc.contributor.authorHunger, SP
dc.contributor.authorSchrappe, M
dc.contributor.authorRelling, MV
dc.contributor.authorStanulla, M
dc.contributor.authorLoh, ML
dc.contributor.authorHoulston, RS
dc.contributor.authorYang, JJ
dc.date.accessioned2020-05-28T11:29:06Z
dc.date.issued2019-11-25
dc.identifier.citationNature communications, 2019, 10 (1), pp. 5348 - ?
dc.identifier.issn2041-1723
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/3651
dc.identifier.eissn2041-1723
dc.identifier.doi10.1038/s41467-019-13069-6
dc.description.abstractThere is increasing evidence for a strong inherited genetic basis of susceptibility to acute lymphoblastic leukaemia (ALL) in children. To identify new risk variants for B-cell ALL (B-ALL) we conducted a meta-analysis with four GWAS (genome-wide association studies), totalling 5321 cases and 16,666 controls of European descent. We herein describe novel risk loci for B-ALL at 9q21.31 (rs76925697, P = 2.11 × 10 -8 ), for high-hyperdiploid ALL at 5q31.1 (rs886285, P = 1.56 × 10 -8 ) and 6p21.31 (rs210143 in BAK1, P = 2.21 × 10 -8 ), and ETV6-RUNX1 ALL at 17q21.32 (rs10853104 in IGF2BP1, P = 1.82 × 10 -8 ). Particularly notable are the pleiotropic effects of the BAK1 variant on multiple haematological malignancies and specific effects of IGF2BP1 on ETV6-RUNX1 ALL evidenced by both germline and somatic genomic analyses. Integration of GWAS signals with transcriptomic/epigenomic profiling and 3D chromatin interaction data for these leukaemia risk loci suggests deregulation of B-cell development and the cell cycle as central mechanisms governing genetic susceptibility to ALL.
dc.formatElectronic
dc.format.extent5348 - ?
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.subjectHumans
dc.subjectGenetic Predisposition to Disease
dc.subjectRNA-Binding Proteins
dc.subjectOncogene Proteins, Fusion
dc.subjectRisk Factors
dc.subjectPolymorphism, Single Nucleotide
dc.subjectChild
dc.subjectCore Binding Factor Alpha 2 Subunit
dc.subjectbcl-2 Homologous Antagonist-Killer Protein
dc.subjectPrecursor B-Cell Lymphoblastic Leukemia-Lymphoma
dc.subjectGenome-Wide Association Study
dc.subjectEpigenomics
dc.subjectTranscriptome
dc.titleIdentification of four novel associations for B-cell acute lymphoblastic leukaemia risk.
dc.typeJournal Article
dcterms.dateAccepted2019-10-17
rioxxterms.versionofrecord10.1038/s41467-019-13069-6
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2019-11-25
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfNature communications
pubs.issue1
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/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.volume10
pubs.embargo.termsNot known
icr.researchteamCancer Genomicsen_US
dc.contributor.icrauthorLaw, Philipen
dc.contributor.icrauthorHoulston, Richarden
dc.contributor.icrauthorBroderick, Peteren
dc.contributor.icrauthorVijayakrishnan, Jayaramen
dc.contributor.icrauthorStudd, Jamesen
dc.contributor.icrauthorKinnersley, Benjaminen


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