Association of ESRα-Pvull and ESRα-Xbal Polymorphisms with Breast Cancer Susceptibility in an Iranian Population: A Hospital-Based Case-Control Study

Hashemzadeh-Charkhtab, Leily; Kazemi, Mansure; Tavakoli, Niloufar; Abdolshahi, Saeid; Bozorgnia, Arshia; Gilasi, Hamidreza

doi:10.31557/APJCP.2026.27.3.1053

Association of ESRα-Pvull and ESRα-Xbal Polymorphisms with Breast Cancer Susceptibility in an Iranian Population: A Hospital-Based Case-Control Study

Document Type : Research Articles

Authors

¹ Faculty of Basic Sciences, Islamic Azad University, Qom Branch, Iran.

² Lunenfeld-TanenBaum Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada.

³ Department of Medical Laboratory Sciences, Kashan Branch, Islamic Azad University, Kashan, Iran.

⁴ Student Research Committee, Kashan University of Medical Sciences, Kashan, Iran.

⁵ Department of Microbiology, Faculty of Medicine, Kashan University of Medical Sciences, Kashan, Iran.

10.31557/APJCP.2026.27.3.1053

Abstract

Background: Genetic variations in estrogen receptor genes are implicated in the development of breast cancer (BC). Among these, the ESR1 PvuII and XbaI polymorphisms have been frequently evaluated, but findings remain inconsistent. This study aimed to examine the association of the PvuII and XbaI polymorphisms with breast cancer risk in an Iranian female population. Materials and Methods: A case–control study was conducted on 100 breast cancer (BC) patients and 100 healthy, age-matched controls. Genotyping of the ESR1 PvuII (rs2234693 T>C) and XbaI (rs9340799 A>G) polymorphisms was performed using PCR-RFLP, with results validated by direct DNA sequencing. Associations between genotypes, clinicopathological features, and disease risk were analyzed. Results: Nominal differences in genotype distributions were observed. After applying multiple-testing correction across the pre-specified models, several associations remained statistically significant; however, marked deviations from Hardy–Weinberg equilibrium (HWE) in controls warrant cautious interpretation. Conclusion: Given the hospital-based design, small sample size, and significant deviations from HWE in controls, the observed ESR1 associations should be considered hypothesis-generating rather than confirmatory. Replication in larger, population-based Iranian cohorts with orthogonal genotyping approaches is required before any clinical implications are drawn.

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