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dc.contributor.authorBeesley, Jonathan
dc.contributor.authorSivakumaran, Haran
dc.contributor.authorMoradi Marjaneh, Mahdi
dc.contributor.authorLima, Luize G.
dc.contributor.authorHillman, Kristine M.
dc.contributor.authorKaufmann, Susanne
dc.contributor.authorTuano, Natasha
dc.contributor.authorHussein, Nehal
dc.contributor.authorHam, Sunyoung
dc.contributor.authorMukhopadhyay, Pamela
dc.contributor.authorKazakoff, Stephen
dc.contributor.authorLee, Jason S.
dc.contributor.authorMichailidou, Kyriaki
dc.contributor.authorBarnes, Daniel R.
dc.contributor.authorAntoniou, Antonis C.
dc.contributor.authorFachal, Laura
dc.contributor.authorDunning, Alison M.
dc.contributor.authorEaston, Douglas F.
dc.contributor.authorWaddell, Nicola
dc.contributor.authorRosenbluh, Joseph
dc.contributor.authorMöller, Andreas
dc.contributor.authorChenevix-Trench, Georgia
dc.contributor.authorFrench, Juliet D.
dc.contributor.authorEdwards, Stacey L.
dc.date.accessioned2021-01-06T16:13:34Z
dc.date.available2021-01-06T16:13:34Z
dc.date.issued2020-01-07
dc.date.submitted2019-03-11
dc.identifier.others13059-019-1877-y
dc.identifier.other1877
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/315780
dc.descriptionFunder: National Breast Cancer Foundation; doi: http://dx.doi.org/10.13039/501100001026
dc.descriptionFunder: University of Queensland; doi: http://dx.doi.org/10.13039/501100001794
dc.description.abstractAbstract: Background: Genome-wide association studies have identified 196 high confidence independent signals associated with breast cancer susceptibility. Variants within these signals frequently fall in distal regulatory DNA elements that control gene expression. Results: We designed a Capture Hi-C array to enrich for chromatin interactions between the credible causal variants and target genes in six human mammary epithelial and breast cancer cell lines. We show that interacting regions are enriched for open chromatin, histone marks for active enhancers, and transcription factors relevant to breast biology. We exploit this comprehensive resource to identify candidate target genes at 139 independent breast cancer risk signals and explore the functional mechanism underlying altered risk at the 12q24 risk region. Conclusions: Our results demonstrate the power of combining genetics, computational genomics, and molecular studies to rationalize the identification of key variants and candidate target genes at breast cancer GWAS signals.
dc.languageen
dc.publisherBioMed Central
dc.rightsAttribution 4.0 International (CC BY 4.0)en
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en
dc.subjectResearch
dc.titleChromatin interactome mapping at 139 independent breast cancer risk signals
dc.typeArticle
dc.date.updated2021-01-06T16:13:34Z
prism.issueIdentifier1
prism.publicationNameGenome Biology
prism.volume21
dc.identifier.doi10.17863/CAM.62893
dcterms.dateAccepted2019-11-01
rioxxterms.versionofrecord10.1186/s13059-019-1877-y
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
dc.contributor.orcidEdwards, Stacey L. [0000-0001-7428-4139]
dc.identifier.eissn1474-760X
pubs.funder-project-idNational Health and Medical Research Council (1058415, 1120563, 1135932, 1139071, 1117073)
pubs.funder-project-idCancer Council Queensland (1099810)
pubs.funder-project-idHorizon 2020 Framework Programme (MSCA-IF-2014-EF-656144)


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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)