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001 | 153876 | ||
005 | 20240229123051.0 | ||
024 | 7 | _ | |a 10.1002/gepi.22288 |2 doi |
024 | 7 | _ | |a pmid:32115800 |2 pmid |
024 | 7 | _ | |a 0741-0395 |2 ISSN |
024 | 7 | _ | |a 1098-2272 |2 ISSN |
024 | 7 | _ | |a altmetric:76910228 |2 altmetric |
037 | _ | _ | |a DKFZ-2020-00492 |
041 | _ | _ | |a eng |
082 | _ | _ | |a 610 |
100 | 1 | _ | |a Feng, Helian |b 0 |
245 | _ | _ | |a Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. |
260 | _ | _ | |a New York, NY |c 2020 |b Wiley-Liss |
336 | 7 | _ | |a article |2 DRIVER |
336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1638879267_29944 |2 PUB:(DE-HGF) |
336 | 7 | _ | |a ARTICLE |2 BibTeX |
336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
500 | _ | _ | |a 2020 Jul;44(5):442-468 |
520 | _ | _ | |a 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. |
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