Iranian South Medical Journal (Feb 2024)
The Association of MLH1 Gene (rs63749795 C>T) Polymorphism with Breast Cancer Suscep-tibility in the Northwest of Iran
Abstract
Background: The MisMatch Repair (MMR) system is a conserved system with a key role in genetic stability and replication integrity. The MLH1 gene is one of the four main components of the MMR complex. This study was conducted to assess the association of MLH1 (rs63749795 C>T) gene polymorphism with the risk of breast cancer among women in the northwest of Iran. Materials and Methods: A case-control study was conducted on 100 women with breast cancer and 100 healthy controls with no family history of cancer. The association of single-nucleotide polymorphism of MLH1 (rs63749795 C>T) was examined by Tetra-ARMS-PCR assay and the resultant data were analyzed in SPSS software, version 24. Single-nucleotide polymorphism association with clinical symptoms was examined in the patients. Results: CC genotype was not observed in the patient and control groups. The frequency of TC and TT genotypes was 40% and 60% in the case group, and 41.84% and 58.16% in the control group. The frequency of C and T alleles was 20% and 80% in the case group, and 20.91% and 79.09% in the control group. The statistical analysis of the data showed no association between genotypic and allelic distribution and breast cancer in northwestern Iran. The results also showed no significant association between clinical characteristics and breast cancer. Conclusion: The findings of this research showed that there is no significant relationship between the genotypic and allelic distribution of the rs63749795 C>T polymorphism of MLH1 gene and the increased risk of breast cancer or clinical characteristics of the studied patients in northwest Iran.
