Tumor Biology

, Volume 37, Issue 6, pp 8145–8152 | Cite as

Association of the hypermethylation status of PTEN tumor suppressor gene with the risk of breast cancer among Kurdish population from Western Iran

  • Kheirollah Yari
  • Mehrdad Payandeh
  • Zohreh Rahimi
Original Article


Breast cancer is the most common cancer with high morbidity and mortality among women worldwide. Aberrant hypermethylation in promoter regions of the tumor suppressor genes such as PTEN gene is a key event in the progression and development of breast cancer. The aim of the present study was to evaluate an association between PTEN gene methylation status with the risk of breast cancer in an Iranian population. We studied 255 individuals, including 103 patients with breast cancer, 102 first-degree female relatives of patients (mother, sister, or daughter of patients), and 50 healthy individuals as a control group. Genomic DNA was extracted from peripheral blood leukocytes, and the PTEN promoter methylation status was detected using methylation-specific PCR (MSP) method with specific methylated and unmethylated primers. In some samples, direct DNA sequencing was used to confirm the results obtained by the MSP method. The frequency of PTEN-methylated (MM) genotype was 6 % in the healthy control group, 23.3 % in relatives of patients, and 41.7 % in patients (χ 2 = 24.62, p < 0.001). There were significant differences in the frequency of PTEN-methylated genotype between healthy control compared to that in patients (χ 2 = 15.1, p < 0.001) and also compared to that in relatives of patients (χ 2 = 6.9, p = 0.009). In the presence of PTEN MM genotype, there was a 3.1-fold susceptibility to breast cancer compared to the UU genotype (p < 0.001). Also, in the presence of PTEN M allele, the risk of breast cancer was 2.71-fold compared to the presence of U allele (p < 0.001). Our findings indicated increased frequency of hypermethylation of PTEN promoter in the studied patients and their relatives that could be considered as one of the epigenetic factors affecting the risk of breast cancer in Iranians.


Breast cancer PTEN Methylation Epigenetic Methylation-specific PCR Iranian population 



This work was performed in partial fulfillment of the requirements for PhD by Research of Mr. Kheirolah Yari, Kermanshah University of Medical Sciences, Kermanshah, Iran and was financially supported by a grant (grant number 92396) from the Kermanshah University of Medical Sciences, Office of the Vice Chancellor for Research, Kermanshah, Iran.


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Copyright information

© International Society of Oncology and BioMarkers (ISOBM) 2015

Authors and Affiliations

  • Kheirollah Yari
    • 1
  • Mehrdad Payandeh
    • 2
  • Zohreh Rahimi
    • 1
    • 3
  1. 1.Medical Biology Research CenterKermanshah University of Medical SciencesKermanshahIran
  2. 2.Department of Hematology and Medical OncologyKermanshah University of Medical SciencesKermanshahIran
  3. 3.Department of Clinical BiochemistryKermanshah University of Medical SciencesKermanshahIran

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