Evaluation of braf v600e mutation in the urinary bladder cancer

Maryam Moradinasab,1,* Fatemeh farshadpour,2 Reza taherkhani,3 Mohammad reza farzaneh,4 Maryam nekooie,5

1. The Persian Gulf Tropical Medicine Research Center, The Persian Gulf Biomedical Sciences Research Institute, Bushehr University of Medical Sciences, Bushehr, Iran
2. The Persian Gulf Tropical Medicine Research Center, The Persian Gulf Biomedical Sciences Research Institute, Bushehr University of Medical Sciences, Bushehr, Iran
3. The Persian Gulf Tropical Medicine Research Center, The Persian Gulf Biomedical Sciences Research Institute, Bushehr University of Medical Sciences, Bushehr, Iran
4. The Persian Gulf Tropical Medicine Research Center, The Persian Gulf Biomedical Sciences Research Institute, Bushehr University of Medical Sciences, Bushehr, Iran
5. Department of Biocheimistry, Faculty of Medical Sciences,Shiraz University of Medical Sciences,Shiraz ,Iran

Abstract


Introduction

The v-raf murine sarcoma viral oncogene homolog b1 (braf) is a serine/threonine kinase that belonged to the mitogen activated protein kinase (mapk) signaling pathway and plays an important role in the cell proliferation, survival and differentiation. the most common braf mutation, found in over 90% of human cancers, is c.1799t>a transversion which results the substitution of glutamic acid for valine at codon 600 (v600e) in exon 15. this genetic change leading to constitutive activation of the mapk pathway and prompting tumor cells to grow, survive and invade. in the present study, we investigate braf v600e mutation status in southern iranian patient from bushehr with urinary bladder cancer.

Methods

This study was conducted on 181 patients with histological confirmed urothelial cell carcinomas of bladder including 138 males and 43 females, between december 2010 and october 2015. genomic dna was extracted from formalin-fixed paraffin-embedded (ffpe) tissue using high pure template preparation kit according to the manufacturer’s instructions. real-time pcr was applied to detect braf v600e mutation status by using taqman mgb probes and confirmed by direct dna sequencing.

Results

Analysis revealed that among the 181 cases, 19 (10.5%) tumors harbored braf v600e somatic mutation and 162 cases (89.5%) were wild-type. on the other hand, 15 (9.04%) tumors with stages ta and t1 are mutant for braf v600e compared to four (26.67%) for stage t2 and t3 (p-value= 0.056).

Conclusion

These results should be confirmed in larger studies, but suggest that braf mutation rate was low in urinary bladder cancer and there was no significant association between braf v600e mutation and urothelial cell carcinomas of bladder in southern iranian patient.

Keywords

Braf v600e, mutation, urinary bladder neoplasms, bushehr