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Updated: Dec 18, 2025

Systems Biology of Metabolic Regulation by Estrogen Receptor Signaling in Breast Cancer
Published on: March 17, 2016
Functional genomics based on germline genome-wide association studies of endocrine therapy for breast cancer
Jacqueline Zayas1, Sisi Qin2, Jia Yu2
1Mayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic School of Medicine & Mayo Clinic Medical Scientist Training Program, Rochester, MN 55905, USA.
Abstract:
Breast cancer is the most common invasive cancer in women worldwide. Functional follow-up of breast cancer genome-wide association studies has led to the discovery of genes that regulate endocrine therapy response in a SNP- and drug-dependent manner. Here, we will present four examples in which functional genomic studies from breast cancer clinical trials led to novel pharmacogenomic insights and molecular mechanisms of selective estrogen receptor modulators and aromatase inhibitors. The approach utilized for studying genetic variability described in this review offers substantial potential for meaningful discoveries that move the field toward precision medicine for patients.
Insights
Functional genomic studies reveal how genetic variations impact breast cancer endocrine therapy response. This research advances precision medicine by uncovering novel pharmacogenomic insights for targeted treatments.
Area of Science:
- Oncology
- Pharmacogenomics
- Genetics
Background:
- Breast cancer is a leading global cancer in women.
- Genome-wide association studies (GWAS) have identified genetic factors influencing treatment response.
- Understanding these genetic links is crucial for personalized therapy.
Purpose of the Study:
- To present functional genomic insights from breast cancer clinical trials.
- To elucidate molecular mechanisms of endocrine therapy response.
- To highlight the role of genetic variability in precision medicine.
Main Methods:
- Review of functional genomic studies linked to breast cancer clinical trials.
- Analysis of single nucleotide polymorphisms (SNPs) and drug-dependent responses.
- Investigation of selective estrogen receptor modulators (SERMs) and aromatase inhibitors.
Main Results:
- Discovery of genes influencing endocrine therapy response in a SNP- and drug-dependent manner.
- Identification of novel pharmacogenomic insights through functional studies.
- Elucidation of molecular mechanisms underlying drug action.
Conclusions:
- Functional genomic approaches offer powerful tools for breast cancer research.
- Understanding genetic variability is key to advancing precision medicine.
- This strategy holds significant potential for discovering targeted breast cancer therapies.
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