Non-invasive screening of G۳۷۰C, S۲۴۹C and R۲۴۸C mutations of FGFR۳ gene in urinary epithelial cells in patients with bladder cancer

Backgrounds: Bladder cancer is a heterogeneous disease. The mutation in human RAS, TERT,FGFR۳, and PIK۳CA genes have been proposed as potential molecular biomarkers in the bladdertumor, that the active mutations of FGFR۳ are characterized by non-muscle invasive bladdercancer.Materials and Methods: In this study, heterozygosity rate, allelic frequency, and the presenceof G۳۷۰C, S۲۴۹C, and R۲۴۸C mutations in the FGFR۳ gene region were examined by using theARMS–PCR method. After genotyping G۳۷۰C, S۲۴۹C, and R۲۴۸C mutations in ۱۰۰ healthyindividuals and ۱۰۰ patients with bladder cancer, the data were analyzed using MedCalcstatistical software and SPSS.Results: According to analysis of results, the frequencies of CC, TC, and TT genotypes for theS۲۴۹C mutation in the patient's group were ۷۲%, ۲۵%, and ۳%, respectively, and in the control,group were ۹۹% and ۱% for CC, and TC genotypes. The TT genotype was not found in anyhealthy individual. The results showed a significant difference in the genotype frequency of TCbetween the patient and control groups (p<۰.۰۰۰۱). Interestingly, individuals with TC genotypewere estimated to be more susceptible to bladder cancer (p-value = ۰.۰۰۰۰۲, Fisher’s exact test),the odds ratio was ۲.۱۸ (controls versus bladder cancer patients) with ۹۵% CI: ۱.۲۴۷-۴.۵۸۴. Themutations of G۳۷۰C and R۲۴۸C were not observed in any of the samples. S۲۴۹C mutationprobably plays a vital role in causing bladder cancer.Conclusion: Altogether, the results suggested that FGFR۳ mutations could be considered as arisk factor in the prevalence of bladder cancer in the Iranian population.

کلیدواژه ها:

Bladder cancer ، FGFR۳ Gene ، Mutation ، Biomarker ، S۲۴۹C