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2025 Genetic Polymorphism Analysis of CXCL12 and CXCR4 Genes and Their Association with Breast Cancer Risk in Iraqi Women Using PCR-RFLP and Sequencing Techniques IAR Journal of Clinical Research
This study investigated the relationship between CXCR4 and CXCL12 gene polymorphisms and the risk of breast cancer in a sample of Iraqi women. The CXCR4/CXCL12 axis plays a vital role in cancer progression and metastasis, making it a key focus in breast cancer research. The study analyzed CXCL12 rs1801157 and CXCR4 rs2228014 polymorphisms using the polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP). However, technical difficulties arose during the analysis of CXCR4 rs2228014 due to the inefficiency of the restriction enzyme used, necessitating DNA sequencing for accurate results. The findings showed no significant association between rs1801157 (CXCL12) polymorphism and breast cancer risk. While some previous studies suggest that the G allele may increase susceptibility to breast cancer in certain populations, this was not confirmed in the Iraqi sample. The role of rs2228014 (CXCR4) polymorphism remains unclear due to analytical limitations. Despite these results, the CXCR4/CXCL12 axis remains a critical target for future research. Further large-scale studies with advanced genetic analysis techniques are necessary to validate these findings. Additionally, exploring gene expression levels and the functional impact of these polymorphisms could offer deeper insights into their role in breast cancer initiation and progression. Given the involvement of the CXCR4/CXCL12 axis in tumor cell migration and metastasis, studying its potential as a therapeutic target could contribute to new treatment strategies.