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http://hdl.handle.net/2445/174394
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DC Field | Value | Language |
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dc.contributor.author | Feng, Helian | - |
dc.contributor.author | Gusev, Alexander | - |
dc.contributor.author | Pasaniuc, Bogdan | - |
dc.contributor.author | Lázaro García, Conxi | - |
dc.contributor.author | Teulé-Vega, Àlex | - |
dc.contributor.author | GEMO Study Collaborators | - |
dc.contributor.author | EMBRACE Collaborators | - |
dc.contributor.author | GC‐HBOC Study Collaborators | - |
dc.contributor.author | ABCTB Investigators | - |
dc.contributor.author | HEBON Investigators | - |
dc.contributor.author | BCFR Investigators | - |
dc.contributor.author | OCGN Investigators | - |
dc.date.accessioned | 2021-02-26T08:01:30Z | - |
dc.date.available | 2021-02-26T08:01:30Z | - |
dc.date.issued | 2020-03-01 | - |
dc.identifier.uri | http://hdl.handle.net/2445/174394 | - |
dc.description.abstract | Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER-). We further compared associations with ER+ and ER- subtypes, using a case-only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER- breast cancer. We further identified 30 TWAS-significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast-cancer gene in three of six regions harboring multiple TWAS-significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER- breast cancer. | - |
dc.format.extent | 27 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Wiley | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1002/gepi.22288 | - |
dc.relation.ispartof | Genetic Epidemiology, 2020, vol. 44, num. 5, p. 442-468 | - |
dc.relation.uri | https://doi.org/10.1002/gepi.22288 | - |
dc.rights | cc by (c) Feng et al., 2020 | - |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | * |
dc.source | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) | - |
dc.subject.classification | Càncer de mama | - |
dc.subject.classification | Estrògens | - |
dc.subject.other | Breast cancer | - |
dc.subject.other | Estrogen | - |
dc.title | Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.date.updated | 2021-02-16T13:15:50Z | - |
dc.relation.projectID | info:eu-repo/grantAgreement/EC/H2020/669026/EU//BIORISE | - |
dc.relation.projectID | info:eu-repo/grantAgreement/EC/H2020/633784/EU//B-CAST | - |
dc.relation.projectID | info:eu-repo/grantAgreement/EC/FP7/223175/EU//COGS | - |
dc.relation.projectID | info:eu-repo/grantAgreement/EC/H2020/634935/EU//BRIDGES | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 32115800 | - |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
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gepi.22288.pdf | 2.49 MB | Adobe PDF | View/Open |
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