Related Experiment Video
Updated: Jul 15, 2026

Systems Biology of Metabolic Regulation by Estrogen Receptor Signaling in Breast Cancer
Published on: March 17, 2016
Estrogen receptor alpha polymorphisms and postmenopausal breast cancer risk
A M González-Zuloeta Ladd1, A Arias Vásquez, F Rivadeneira
1Department of Epidemiology & Biostatistics, Erasmus MC, P.O. Box 2040, Rotterdam, 3000 CA, The Netherlands.
Estrogen receptor alpha (ESR1) gene polymorphisms, specifically PvuII and XbaI, do not appear to increase breast cancer risk in Caucasian postmenopausal women. This finding is supported by an association study and a meta-analysis of published data.
Area of Science:
- Genetics and Genomics
- Oncology
- Endocrinology
Background:
- Estrogen receptor alpha (ESR1) mediates estrogen response in breast tissue.
- PvuII and XbaI polymorphisms in ESR1 are linked to reduced estrogen sensitivity.
- Investigating the association between ESR1 variants and breast cancer risk is crucial.
Purpose of the Study:
- To evaluate the association between ESR1 PvuII and XbaI polymorphisms and breast cancer risk.
- To conduct an association study in Caucasian postmenopausal women.
- To perform a meta-analysis of existing literature on this topic.
Main Methods:
- Genotyping of PvuII and XbaI polymorphisms in 3,893 women from the Rotterdam Study.
- Logistic regression analyses to assess breast cancer risk associated with ESR1 genotypes.
- Systematic literature search of PubMed and reference lists for meta-analysis.
Main Results:
- No significant difference in breast cancer risk was observed for carriers of PvuII or XbaI genotypes.
- This lack of association was consistent for overall, incident, and prevalent breast cancer cases.
- Meta-analysis did not provide further evidence for a role of these ESR1 variants in breast cancer risk.
Conclusions:
- ESR1 PvuII and XbaI polymorphisms are not associated with breast cancer risk in Caucasian postmenopausal women.
- These genetic variants may not be significant risk factors for breast cancer in this population.
- Further research may explore other genetic or environmental factors influencing breast cancer risk.
Related Concept Videos
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Transducer Mechanism: Nuclear Receptors
About 48 different soluble family members of nuclear receptors are identified that can be divided into two main classes:
Principles of Pharmacogenetics: Types of Genetic Variants