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dc.contributor.authorCornish, AJen_US
dc.contributor.authorHoang, PHen_US
dc.contributor.authorDobbins, SEen_US
dc.contributor.authorLaw, PJen_US
dc.contributor.authorChubb, Den_US
dc.contributor.authorOrlando, Gen_US
dc.contributor.authorHoulston, RSen_US
dc.coverage.spatialUnited Statesen_US
dc.date.accessioned2019-01-08T12:29:04Z
dc.date.issued2019-01-08en_US
dc.identifierhttps://www.ncbi.nlm.nih.gov/pubmed/30606723en_US
dc.identifierbloodadvances.2018026419en_US
dc.identifier.citationBlood Adv, 2019, 3 (1), pp. 21 - 32en_US
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/2998
dc.identifier.eissn2473-9537en_US
dc.identifier.doi10.1182/bloodadvances.2018026419en_US
dc.description.abstractThe identification of driver mutations is fundamental to understanding oncogenesis. Although genes frequently mutated in B-cell lymphoma have been identified, the search for driver mutations has largely focused on the coding genome. Here we report an analysis of the noncoding genome using whole-genome sequencing data from 117 patients with B-cell lymphoma. Using promoter capture Hi-C data in naive B cells, we define cis-regulatory elements, which represent an enriched subset of the noncoding genome in which to search for driver mutations. Regulatory regions were identified whose mutation significantly alters gene expression, including copy number variation at cis-regulatory elements targeting CD69, IGLL5, and MMP14, and single nucleotide variants in a cis-regulatory element for TPRG1 We also show the commonality of pathways targeted by coding and noncoding mutations, exemplified by MMP14, which regulates Notch signaling, a pathway important in lymphomagenesis and whose expression is associated with patient survival. This study provides an enhanced understanding of lymphomagenesis and describes the advantages of using chromosome conformation capture to decipher noncoding mutations relevant to cancer biology.en_US
dc.format.extent21 - 32en_US
dc.languageengen_US
dc.language.isoengen_US
dc.rights.urihttp://www.rioxx.net/licenses/all-rights-reserveden_US
dc.titleIdentification of recurrent noncoding mutations in B-cell lymphoma using capture Hi-C.en_US
dc.typeJournal Article
dcterms.dateAccepted2018-11-24en_US
rioxxterms.versionofrecord10.1182/bloodadvances.2018026419en_US
rioxxterms.licenseref.startdate2019-01-08en_US
rioxxterms.typeJournal Article/Reviewen_US
dc.relation.isPartOfBlood Adven_US
pubs.issue1en_US
pubs.notesNot knownen_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/Molecular & Population Genetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Molecular & Population Genetics
pubs.publication-statusPublisheden_US
pubs.volume3en_US
pubs.embargo.termsNot knownen_US
icr.researchteamMolecular & Population Geneticsen_US
dc.contributor.icrauthorCornish, Alexanderen_US
dc.contributor.icrauthorLaw, Philipen_US
dc.contributor.icrauthorHoulston, Richarden_US


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