Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.
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- ABCTB Investigators
- HEBON Investigators
- BCFR Investigators
- OCGN Investigators
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Publication date
July 2020
DOI Publisher
Wiley Journal
Genetic Epidemiology Language
EnglishAbstract
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 wit...
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