Association of Phosphatase and Tensin Homolog rs3830675 Gene Polymorphisms and Breast Cancer

Abstract

Background: Phosphatase and tensin homolog gene (PTEN) activity is pathologically lost in many human cancers. Germ-line mutations of PTEN have been found in several cancers. Objectives: The purpose of this study was to determine the possible association of PTEN rs3830675 polymorphism with the development of breast cancer in Iranian women. Patients and Methods: Genomic DNA was extracted from peripheral blood lymphocytes of 49 patients and 43 healthy women, using the standard Salting out/Proteinase K method. PTEN rs3830675 (IVS4) polymorphism was detected using the PCR-RFLP method. Results: The allele frequency of rs3830675 polymorphism were 37% and 27%, in patients and healthy subjects, respectively; showing that the polymorphism was 10% more prevalent in patients with breast cancer. Conclusions: PTEN rs3830675 polymorphism was associated with breast cancer, which might suggest the involvement of PTEN polymorphism in the molecular pathways related to the development of breast cancer. However, more studies with larger sample sizes are needed to address this question.