dc.contributor.author | Baxter, JS | |
dc.contributor.author | Leavy, OC | |
dc.contributor.author | Dryden, NH | |
dc.contributor.author | Maguire, S | |
dc.contributor.author | Johnson, N | |
dc.contributor.author | Fedele, V | |
dc.contributor.author | Simigdala, N | |
dc.contributor.author | Martin, L-A | |
dc.contributor.author | Andrews, S | |
dc.contributor.author | Wingett, SW | |
dc.contributor.author | Assiotis, I | |
dc.contributor.author | Fenwick, K | |
dc.contributor.author | Chauhan, R | |
dc.contributor.author | Rust, AG | |
dc.contributor.author | Orr, N | |
dc.contributor.author | Dudbridge, F | |
dc.contributor.author | Haider, S | |
dc.contributor.author | Fletcher, O | |
dc.date.accessioned | 2018-01-24T10:47:10Z | |
dc.date.issued | 2018-03-12 | |
dc.identifier.citation | Nature communications, 2018, 9 (1), pp. 1028 - ? | |
dc.identifier.issn | 2041-1723 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/1007 | |
dc.identifier.eissn | 2041-1723 | |
dc.identifier.doi | 10.1038/s41467-018-03411-9 | |
dc.description.abstract | Genome-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.format | Electronic | |
dc.format.extent | 1028 - ? | |
dc.language | eng | |
dc.language.iso | eng | |
dc.publisher | NATURE PUBLISHING GROUP | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0 | |
dc.subject | Humans | |
dc.subject | Breast Neoplasms | |
dc.subject | Genetic Predisposition to Disease | |
dc.subject | Epistasis, Genetic | |
dc.subject | Genotype | |
dc.subject | Mutation | |
dc.subject | Polymorphism, Single Nucleotide | |
dc.subject | Quantitative Trait Loci | |
dc.subject | Female | |
dc.subject | Genome-Wide Association Study | |
dc.title | Capture Hi-C identifies putative target genes at 33 breast cancer risk loci. | |
dc.type | Journal Article | |
dcterms.dateAccepted | 2018-02-12 | |
rioxxterms.versionofrecord | 10.1038/s41467-018-03411-9 | |
rioxxterms.licenseref.uri | https://creativecommons.org/licenses/by/4.0 | |
rioxxterms.licenseref.startdate | 2018-03-12 | |
rioxxterms.type | Journal Article/Review | |
dc.relation.isPartOf | Nature communications | |
pubs.issue | 1 | |
pubs.notes | Not 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-status | Published | |
pubs.volume | 9 | |
pubs.embargo.terms | Not known | |
icr.researchteam | Complex Trait Genetics | |
icr.researchteam | Functional Genetic Epidemiology | |
icr.researchteam | Endocrinology | |
dc.contributor.icrauthor | Johnson, Nichola | |
dc.contributor.icrauthor | Fedele, Vita | |
dc.contributor.icrauthor | Martin, Lesley-Ann | |
dc.contributor.icrauthor | Chauhan, Ritika | |
dc.contributor.icrauthor | Rust, Alistair | |
dc.contributor.icrauthor | Haider, Syed | |
dc.contributor.icrauthor | Fletcher, Olivia | |