Related Experiment Video
Updated: Jun 30, 2025
10:36
Systems Biology of Metabolic Regulation by Estrogen Receptor Signaling in Breast Cancer
Published on: March 17, 2016
10.5K
Expression- and splicing-based multi-tissue transcriptome-wide association studies identified multiple genes for
Julian C McClellan1, James L Li1, Guimin Gao2
1Department of Public Health Sciences, University of Chicago, Chicago, IL, 60637, USA.
Breast Cancer Research : BCR
|March 22, 2024
Summary
This study identified 230 genes for estrogen receptor-positive (ER+) and 66 genes for estrogen receptor-negative (ER-) breast cancer (BC). It introduces a novel splicing-based framework for transcriptome-wide association studies (TWASs) to explore BC etiology.
Area of Science:
- Genetics
- Genomics
- Cancer Research
Background:
- Limited studies explored differences between ER+ and ER- breast cancer (BC) using transcriptome-wide association studies (TWASs).
- Previous TWASs primarily used gene expression models trained on breast tissue and did not account for alternative splicing.
- Understanding genetic contributions to BC subtypes is crucial for targeted therapies.
Conclusions:
- Comprehensively examined common variation's contribution to molecular differences between ER+ and ER- BC.
- Introduced a novel splicing-based framework for future TWAS studies.
- Highlighted the potential role of common variants in BC etiology beyond rare mutations.
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