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dc.contributor.authorBaxter, JS
dc.contributor.authorLeavy, OC
dc.contributor.authorDryden, NH
dc.contributor.authorMaguire, S
dc.contributor.authorJohnson, N
dc.contributor.authorFedele, V
dc.contributor.authorSimigdala, N
dc.contributor.authorMartin, L-A
dc.contributor.authorAndrews, S
dc.contributor.authorWingett, SW
dc.contributor.authorAssiotis, I
dc.contributor.authorFenwick, K
dc.contributor.authorChauhan, R
dc.contributor.authorRust, AG
dc.contributor.authorOrr, N
dc.contributor.authorDudbridge, F
dc.contributor.authorHaider, S
dc.contributor.authorFletcher, O
dc.date.accessioned2018-01-24T10:47:10Z
dc.date.issued2018-03-12
dc.identifier.citationNature communications, 2018, 9 (1), pp. 1028 - ?
dc.identifier.issn2041-1723
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/1007
dc.identifier.eissn2041-1723
dc.identifier.doi10.1038/s41467-018-03411-9
dc.description.abstractGenome-wide association studies (GWAS) have identified approximately 100 breast cancer risk loci. Translating these findings into a greater understanding of the mechanisms that influence disease risk requires identification of the genes or non-coding RNAs that mediate these associations. Here, we use Capture Hi-C (CHi-C) to annotate 63 loci; we identify 110 putative target genes at 33 loci. To assess the support for these target genes in other data sources we test for associations between levels of expression and SNP genotype (eQTLs), disease-specific survival (DSS), and compare them with somatically mutated cancer genes. 22 putative target genes are eQTLs, 32 are associated with DSS and 14 are somatically mutated in breast, or other, cancers. Identifying the target genes at GWAS risk loci will lead to a greater understanding of the mechanisms that influence breast cancer risk and prognosis.
dc.formatElectronic
dc.format.extent1028 - ?
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.subjectHumans
dc.subjectBreast Neoplasms
dc.subjectGenetic Predisposition to Disease
dc.subjectEpistasis, Genetic
dc.subjectGenotype
dc.subjectMutation
dc.subjectPolymorphism, Single Nucleotide
dc.subjectQuantitative Trait Loci
dc.subjectFemale
dc.subjectGenome-Wide Association Study
dc.titleCapture Hi-C identifies putative target genes at 33 breast cancer risk loci.
dc.typeJournal Article
dcterms.dateAccepted2018-02-12
rioxxterms.versionofrecord10.1038/s41467-018-03411-9
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2018-03-12
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/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Complex Trait Genetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Endocrinology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Functional Genetic Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Endocrinology
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/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Complex Trait Genetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Endocrinology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Functional Genetic Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Endocrinology
pubs.publication-statusPublished
pubs.volume9en_US
pubs.embargo.termsNot known
icr.researchteamComplex Trait Geneticsen_US
icr.researchteamFunctional Genetic Epidemiologyen_US
icr.researchteamEndocrinologyen_US
dc.contributor.icrauthorFletcher, Oliviaen
dc.contributor.icrauthorBaxter, Josephen
dc.contributor.icrauthorChauhan, Ritikaen
dc.contributor.icrauthorRust, Alistairen
dc.contributor.icrauthorHaider, Syeden
dc.contributor.icrauthorFedele, Vitaen
dc.contributor.icrauthorMartin, Lesley-Annen
dc.contributor.icrauthorOrr, Nicholasen


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