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Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/174394
Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status
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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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FENG, Helian, et al. Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status. Genetic Epidemiology. 2020. Vol. 44, num. 5, pags. 442-468. [consulted: 10 of June of 2026]. Available at: https://hdl.handle.net/2445/174394