Screening of VHL mutation in different types of kidney cancer in patients of West Bengal (India)

Abstract

Introduction: The purpose of this study was to screen the patients of West Bengal (India) with different types of renal cancer to see the presence of von Hippel–Lindau (VHL) gene mutations. Materials and Methods: This prospective study included 25 patients with renal cancer operated on between December 2019 and January 2022. Tumor tissue and adjacent normal tissue samples were taken and subjected to genomic DNA isolation, polymerase chain reaction, DNA sequencing, and identification of polymorphism in renal cell carcinoma (RCC) patients by comparing with a database using “ENSEMBL” (genome browser) followed by the role of identified variants in disease-causing using different software. Results: After analysis, we identified six exonic and one intronic variant in the VHL gene. rs34661876 A>G, AG genotype in intron 2–3 has increased the risk of RCC against the odd 6.729 times (P = 0.0041). It is present in 17 out of 25 case samples. rs1642742 G>A, AA genotype in exon 3 has increased the risk of RCC against the odd 22.167 times (P = 0.0001). It is present in 14 out of 25 case samples. The effect of these Single nucleotide polymorphism SNPs/mutations on VHL function were predicted by various bioinformatics software and it was found that rs1399097617 C>T, rs5030830 T>C, and rs1553620326 G>C are disease-causing. Conclusion: If any of the above-mentioned variants are detected in RCC patients, then they will be benefited from the agents that modulate the VHL-hypoxia-inducible factor pathway and will help in developing new strategies for the management of RCC.