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dc.contributor.authorAkdemir, Kadir C
dc.contributor.authorLe, Victoria T
dc.contributor.authorChandran, Sahaana
dc.contributor.authorLi, Yilong
dc.contributor.authorVerhaak, Roel G
dc.contributor.authorBeroukhim, Rameen
dc.contributor.authorCampbell, Peter J
dc.contributor.authorChin, Lynda
dc.contributor.authorDixon, Jesse R
dc.contributor.authorFutreal, P Andrew
dc.contributor.authorPCAWG Structural Variation Working Group
dc.contributor.authorPCAWG Consortium
dc.date.accessioned2021-02-04T16:24:35Z
dc.date.available2021-02-04T16:24:35Z
dc.date.issued2020-03
dc.date.submitted2017-12-20
dc.identifier.issn1061-4036
dc.identifier.others41588-019-0564-y
dc.identifier.other564
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/317147
dc.description.abstractChromatin is folded into successive layers to organize linear DNA. Genes within the same topologically associating domains (TADs) demonstrate similar expression and histone-modification profiles, and boundaries separating different domains have important roles in reinforcing the stability of these features. Indeed, domain disruptions in human cancers can lead to misregulation of gene expression. However, the frequency of domain disruptions in human cancers remains unclear. Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), which aggregated whole-genome sequencing data from 2,658 cancers across 38 tumor types, we analyzed 288,457 somatic structural variations (SVs) to understand the distributions and effects of SVs across TADs. Notably, SVs can lead to the fusion of discrete TADs, and complex rearrangements markedly change chromatin folding maps in the cancer genomes. Notably, only 14% of the boundary deletions resulted in a change in expression in nearby genes of more than twofold.
dc.languageen
dc.publisherSpringer Science and Business Media LLC
dc.rightsAttribution 4.0 International (CC BY 4.0)
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectArticle
dc.subject/631/114/2164
dc.subject/631/67
dc.subject/631/208/199
dc.subject/45
dc.subject/45/15
dc.subject/38/91
dc.subject/9
dc.subjectarticle
dc.titleDisruption of chromatin folding domains by somatic genomic rearrangements in human cancer.
dc.typeArticle
dc.date.updated2021-02-04T16:24:34Z
prism.endingPage305
prism.issueIdentifier3
prism.publicationNameNat Genet
prism.startingPage294
prism.volume52
dc.identifier.doi10.17863/CAM.64258
dcterms.dateAccepted2019-12-03
rioxxterms.versionofrecord10.1038/s41588-019-0564-y
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
dc.contributor.orcidFutreal, P Andrew [0000-0001-8663-2671]
dc.identifier.eissn1546-1718
pubs.funder-project-idCancer Prevention and Research Institute of Texas (Cancer Prevention Research Institute of Texas) (R1205)
pubs.funder-project-idWelch Foundation (G-0040)
cam.issuedOnline2020-02-05


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Attribution 4.0 International (CC BY 4.0)
Except where otherwise noted, this item's licence is described as Attribution 4.0 International (CC BY 4.0)