dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Feng, Helian |
dc.contributor.author | Gusev, Alexander |
dc.contributor.author | Pasaniuc, Bogdan |
dc.contributor.author | Wu, Lang |
dc.contributor.author | Long, Jirong |
dc.contributor.author | Abu‐full, Zomoroda |
dc.contributor.author | Balmaña Gelpí, Judith |
dc.contributor.author | Diez Gibert, Orland |
dc.date.accessioned | 2021-10-22T09:04:05Z |
dc.date.available | 2021-10-22T09:04:05Z |
dc.date.issued | 2020-07 |
dc.identifier.citation | Feng H, Gusev A, Pasaniuc B, Wu L, Long J, Abu‐full Z, et al. Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status. Genet Epidemiol. 2020 Jul;44(5):442–468. |
dc.identifier.issn | 1098-2272 |
dc.identifier.uri | https://hdl.handle.net/11351/6445 |
dc.description | Breast cancer subtype; Causal gene |
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.language.iso | eng |
dc.publisher | Wiley |
dc.relation.ispartofseries | Genetic Epidemiology;44(5) |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Mama - Càncer - Aspectes genètics |
dc.subject.mesh | Breast Neoplasms |
dc.subject.mesh | Genetic Predisposition to Disease |
dc.title | Transcriptome-wide association study of breast cancer risk by estrogen-receptor status |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1002/gepi.22288 |
dc.subject.decs | neoplasias de la mama |
dc.subject.decs | predisposición genética a la enfermedad |
dc.relation.publishversion | https://doi.org/10.1002/gepi.22288 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Feng H] Program in Genetic Epidemiology and Statistical Genetics, Harvard T. H. Chan School of Public Health, Boston, Massachusetts. Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, Massachusetts. Department of Biostatistics, Harvard T. H. Chan School of Public Health, Boston, Massachusetts. [Gusev A] Dana‐Farber Cancer Institute, Boston, Massachusetts. [Pasaniuc B] UCLA Path & Lab Med, Los Angeles, California. [Wu L] Epidemiology Program, University of Hawaii Cancer Center, Honolulu, Hawaii. [Long J] Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt‐Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee. [Abu-full Z] Clalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel. [Balmaña J] High Risk and Cancer Prevention Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. [Diez O] Hereditary Cancer Genetics Group, Area of Clinical and Molecular Genetics, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Vall d'Hebron Hospital Universitari, Barcelona, Spain |
dc.identifier.pmid | 32115800 |
dc.identifier.wos | 000517111500001 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |