{"doi":"10.1002/gepi.22288","title":"Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status","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.","journal":"Genetic Epidemiology","year":2020,"id":91343,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":45,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.7157,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":6113,"name":"Alexander Gusev","orcid":"0000-0002-7980-4620","position":1,"is_corresponding":false},{"id":731,"name":"Bogdan Paşaniuc","orcid":"0000-0002-0227-2056","position":2,"is_corresponding":false},{"id":240062,"name":"Lang Wu","orcid":"0000-0001-9938-3627","position":3,"is_corresponding":false},{"id":240075,"name":"Jirong Long","orcid":"0000-0002-7433-9766","position":4,"is_corresponding":false},{"id":458213,"name":"Zomoroda Abu-Full","orcid":null,"position":5,"is_corresponding":false},{"id":229245,"name":"Kristiina Aittomäki","orcid":null,"position":6,"is_corresponding":false},{"id":55303,"name":"Irene L. 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