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Re-evaluating the FGFR4 (G388R) germline mutation in different cancers in Pakistan population
Qaisar Mansoor, Sundas Fayyaz, Ammad Ahmad Farooqi, Shahzad Bhatti and Muhammad Ismail

Background: Cancer is a life threatening complicated disease that arises because of wide-ranging environmental and cellular factors. These external and internal stresses disrupt the spatio-temporally controlled mechanisms of the cellular signalings. Accumulating evidence suggests that signal transductions are misrepresented in carcinogenesis and FGFR4 is reported to be involved in carcinogenesis. Although there is considerable evidence emphasizing the relationship between FGFR4 (G388R) mutation and carcinogenesis however rapidly accumulating data cannot be extrapolated to Pakistani population due to intra- and inter-ethnic variability.

Objective: The study is focused on the trans-membrane mutation G388R of FGFR4 genes among different types of cancers diagnosed in local population in Pakistan.

Methods: 103 breast cancer patients, 56 Lung cancer patients (both Small Cell and Non Small Cell) and 45 control subjects participated in this study. Sample of 5-ml venous blood was taken from participants with informed consent. DNA was extracted and PCR-RFLP analysis was done for G388R mutation in FGFR4 gene using site specific primers and restriction enzyme. The results were statistically evaluated in SPSS14.

Results: The genotypes of G388R in FGFR4 gene were in Hardy-Weinberg equilibrium. The percentage of normal homozygotes GG was found to be (48.5%) in breast cancer, (51.8%) in lung cancer. Glycine/arginine was (36.9%) in breast cancer, (42.9%) in lung cancer.

Conclusion: We were unable to find a possible correlation between FGFR4 G388R mutation and different cancers in local population.

Keywords: FGFR4, Breast cancer, signaling

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