Analysis of Single Nucleotide Polymorphisms (SNPs) rs2234693 and rs9340799 of the ESR1 Gene and the Risk of Breast Cancer
Beata Smolarz1, Anna Zadrożna Nowak2, Magdalena Bryś3
1Laboratory of Cancer Genetics, Department of Pathology, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland; smolbea@wp.pl.
Background/Aim:
The aim of this study was to analyze rs2234693 and rs9340799 polymorphisms of the ESR1 gene in the context of breast cancer risk in Polish patients.
Materials And Methods:
The study involved a group of 117 patients with breast cancer and 106 controls. The analyses were carried out using the polymerase chain reaction - restriction fragments length polymorphism technique.
Results:
The presence of the CC genotype in rs2234693 more than doubled the risk of breast cancer (p=0.04), whereas the presence of the TT genotype in rs2234693 significantly reduced the risk of developing this type of cancer (p=0.0002). The presence of the GG genotype in rs9340799 more than doubled the risk of breast cancer (p=0.04), which was confirmed by the analysis of the recessive model (p=0.04).
Conclusion:
The polymorphisms rs2234693 and rs9340799 of the ESR1 gene may be associated with the risk of breast cancer among Polish women.
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