PTEN Gene Expression and Its Association with rs10490920 SNP in Breast Cancer

Introduction: The PTEN gene, also known as MMAC1 or TEP1, is a tumor suppressor gene. One of the important polymorphisms of this gene is the rs10490920 SNP. The purpose of this study was to determine the PTEN gene expression and its relation to changes in rs10490920 polymorphism in breast cancer. Methods: In this study, 40 breast cancer patients and 10 healthy controls were considered. The expression of PTEN and its common polymorphisms in blood samples the participants were investigated using real-time polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP)-PCR techniques. GraphPad and Medclac software were used to analyze the data. Results: The results revealed a significantly decreased PTEN expression in the patients compared with the controls. In the study of polymorphism, it was found that the frequency of normal and mutated homozygous alleles in breast cancer patients was 2% higher than in healthy controls. In fact, samples with the rs10490920 polymorphism in the PTEN gene exhibited increased expression in a MM or mutated state. Conclusion: PTEN gene expression decreases in breast cancer patients. The frequency of IVS4 allele in breast cancer patients is higher than that in the control group.