• Study of single nucleotide polymorphisms RS964372 and RS8052334 , MT1B gene associated with breast cancer patients among Iranian ancestries
  • Mohammad Javad Askari,1 Saghar Yousefnia,2,* Zahra Zamanzadeh,3 Morteza Abkar,4
    1. Department of Biotechnology, Faculty of Biological Sciences and Technology, Shahid Ashrafi Esfahani University, Isfahan, Iran
    2. Department of Cell and Molecular Biology, Semnan University, Semnan, Iran
    3. Department of Biotechnology, Faculty of Biological Sciences and Technology, Shahid Ashrafi Esfahani University, Isfahan, Iran
    4. Department of Biotechnology, Faculty of Biological Sciences and Technology, Shahid Ashrafi Esfahani University, Isfahan, Iran


  • Introduction: Breast cancer is one of the most common malignancies affecting women worldwide. As research continues to discover genetic factors that contribute to breast cancer risk, the importance of specific genetic polymorphisms has become an important point. Genetic polymorphisms can increase breast cancer risk by modulating gene expression levels or protein structure. Two of the lesser-known polymorphisms associated with some diseases and cancer are the intronic polymorphism 3:c.95-68T>C (rs8052334) and 3:c.28+137C>G (rs964372) in the MT1B gene. It was investigated for its possible association with the risk of breast cancer. This paper presents a study investigating whether polymorphism 3:c.95-68T>C (rs8052334) and polymorphism 3:c.28+137C>G (rs964372) are associated with breast cancer susceptibility.
  • Methods: Our research analyzed two groups: 100 samples from individuals diagnosed with breast cancer and 100 healthy control samples. We applied the Tetra-ARMS PCR method to detect the presence of 3:c.28+137C>G (rs964372) and 3:c.95-68T>C (rs8052334) polymorphisms. This technique is known for its efficiency and accuracy in detecting specific genetic variants, which allows reliable comparison between two groups.
  • Results: Data analysis showed that CC allele and AA allele in rs964372 polymorphism and TC allele and CC allele in rs8052334 polymorphism have the highest and lowest frequencies, respectively (p value>0.05). In addition, these two polymorphisms in the MT1B gene did not show a significant relationship with the risk of breast cancer. This finding suggests that, contrary to some hypotheses, these specific genetic polymorphisms may not be a risk factor for breast cancer. However, we recommend re-evaluation of these results in more diverse and larger ethnic populations and statistical groups as well as other MT1B gene polymorphisms.
  • Conclusion: Our study showed that rs8052334 and rs964372 polymorphisms in MT1B gene have no significant relationship with breast cancer risk. These findings highlight the importance of continued research to identify genetic factors that actually influence breast cancer development. Understanding these connections is crucial to advancing personalized medicine and improving prevention and treatment strategies.
  • Keywords: Breast cancer ,MT1B gene, Tetra-ARMS PCR, genetic polymorphism,rs964372, rs8052334