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dc.contributor.authorOrlando, Gen_US
dc.contributor.authorLaw, PJen_US
dc.contributor.authorCornish, AJen_US
dc.contributor.authorDobbins, SEen_US
dc.contributor.authorChubb, Den_US
dc.contributor.authorBroderick, Pen_US
dc.contributor.authorLitchfield, Ken_US
dc.contributor.authorHariri, Fen_US
dc.contributor.authorPastinen, Ten_US
dc.contributor.authorOsborne, CSen_US
dc.contributor.authorTaipale, Jen_US
dc.contributor.authorHoulston, RSen_US
dc.coverage.spatialUnited Statesen_US
dc.date.accessioned2018-11-27T12:04:32Z
dc.date.issued2018-10en_US
dc.identifierhttps://www.ncbi.nlm.nih.gov/pubmed/30224643en_US
dc.identifier10.1038/s41588-018-0211-zen_US
dc.identifier.citationNat Genet, 2018, 50 (10), pp. 1375 - 1380en_US
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/2956
dc.identifier.eissn1546-1718en_US
dc.identifier.doi10.1038/s41588-018-0211-zen_US
dc.description.abstractEfforts are being directed to systematically analyze the non-coding regions of the genome for cancer-driving mutations1-6. cis-regulatory elements (CREs) represent a highly enriched subset of the non-coding regions of the genome in which to search for such mutations. Here we use high-throughput chromosome conformation capture techniques (Hi-C) for 19,023 promoter fragments to catalog the regulatory landscape of colorectal cancer in cell lines, mapping CREs and integrating these with whole-genome sequence and expression data from The Cancer Genome Atlas7,8. We identify a recurrently mutated CRE interacting with the ETV1 promoter affecting gene expression. ETV1 expression influences cell viability and is associated with patient survival. We further refine our understanding of the regulatory effects of copy-number variations, showing that RASL11A is targeted by a previously identified enhancer amplification1. This study reveals new insights into the complex genetic alterations driving tumor development, providing a paradigm for employing chromosome conformation capture to decipher non-coding CREs relevant to cancer biology.en_US
dc.format.extent1375 - 1380en_US
dc.languageengen_US
dc.language.isoengen_US
dc.rights.urihttp://www.rioxx.net/licenses/under-embargo-all-rights-reserveden_US
dc.titlePromoter capture Hi-C-based identification of recurrent noncoding mutations in colorectal cancer.en_US
dc.typeJournal Article
dcterms.dateAccepted2018-07-27en_US
rioxxterms.versionofrecord10.1038/s41588-018-0211-zen_US
rioxxterms.licenseref.startdate2018-10en_US
rioxxterms.typeJournal Article/Reviewen_US
dc.relation.isPartOfNat Geneten_US
pubs.issue10en_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/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.volume50en_US
pubs.embargo.termsNo embargoen_US
icr.researchteamMolecular & Population Geneticsen_US
dc.contributor.icrauthorHoulston, Richarden_US
dc.contributor.icrauthorBroderick, Peteren_US
dc.contributor.icrauthorLitchfield, Kevinen_US
dc.contributor.icrauthorLaw, Philipen_US
dc.contributor.icrauthorCornish, Alexanderen_US


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