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

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

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Article in Asian Pacific journal of cancer prevention : APJCP, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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6 authors.

Leily Hashemzadeh-CharkhtabFaculty of Basic Sciences, Islamic Azad University, Qom Branch, Iran.ORCID 0009-0000-0750-7566

Mansure KazemiLunenfeld-TanenBaum Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada.

Niloufar TavakoliFaculty of Basic Sciences, Islamic Azad University, Qom Branch, Iran.

Saeid AbdolshahiDepartment of Medical Laboratory Sciences, Kashan Branch, Islamic Azad University, Kashan, Iran.

Arshia BozorgniaStudent Research Committee, Kashan University of Medical Sciences, Kashan, Iran.ORCID 0009-0002-3641-2368

Hamidreza GilasiDepartment of Microbiology, Faculty of Medicine, Kashan University of Medical Sciences, Kashan, Iran.ORCID 0009-0005-0028-6517

Funding

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6 · The paper itself

Abstract

backgroundGenetic 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

methodsA 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.

resultsNominal 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.

conclusionGiven 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.

Indexed as

Biomarkers, TumorBreast NeoplasmsEstrogen Receptor alphaGenetic Predisposition to DiseasePolymorphism, Single NucleotideAdultCase-Control StudiesFemaleFollow-Up StudiesGenotypeHumansIranMiddle AgedPolymorphism, Restriction Fragment LengthPrognosisRisk FactorsBiomarkers, TumorESR1 protein, humanEstrogen Receptor alphabreast cancerEstrogen ReceptorPvullSingle nucleotide polymorphismXbal

Identifiers

PMID41793684

DOI10.31557/APJCP.2026.27.3.1053

PMCPMC13576486

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.