The association of A/G polymorphism in intronic region of FGFR2 gene and breast cancer

Abstract

Background: Fibroblast growth factor receptor 2 (FGFR2) is a receptor of tyrosine kinase with a pivotal role in the cell growth and differentiation. FGFR2 gene was identified as susceptibility gene for breast cancer by Genome-wide associated study. rs1219648 polymorphisms in intronic region are associated with breast cancer. FGFR2 gene is amplified in 15-10% of breast tumors. Single-nucleotide polymorphisms (SNPs) of this region are involved in FGFR2 amplification. In this study, the association of rs1219648 in intron 2 region of FGFR2 gene and breast cancer was assessed. Methods: In the present study, 80 cases of breast cancer and 100 healthy controls were studied. After DNA extraction from blood, specific sequence was amplified by tetra primer ARMS-PCR (amplification-refractory mutation system-polymerase chain reaction) technique and genotype of C/T polymorphism was determined by agarose gel electrophoresis. Findings: Individuals with G/G and A/G genotype were at a significantly higher risk of breast cancer (OR = 5.32, P = 0.018). G allele frequency in case patients were greater than controls but this increase did not show significant relationship with breast cancer (P = 0.230). Conclusion: Single nucleotide polymorphism of G/A in intron 2 of the FGFR2 tyrosine kinase receptor gene may play a role as a risk factor for breast cancer susceptibility.