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Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: 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, GUSEV, Alexander, PASANIUC, Bogdan, LÁZARO GARCÍA, Conxi, TEULÉ-VEGA, Àlex, GEMO Study Collaborators, EMBRACE Collaborators, GC‐HBOC Study Collaborators, ABCTB Investigators, HEBON Investigators, BCFR Investigators, OCGN Investigators. Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status. _Genetic Epidemiology_. 2020. Vol. 44, núm. 5, pàgs. 442-468. [consulta: 26 de febrer de 2026]. [Disponible a: https://hdl.handle.net/2445/174394]