ANALYSIS OF MUTATIONS IN THE WERNER SYNDROME GENE IN METASTATIC RENAL CANCER PATIENTS
The WRN gene is involved in replication, repair, recombination, and telomere support. Biallelic inactivation results in the development of Werner syndrome.Objective. To screen the mutation WRN * p. R1406X in patients with metastatic kidney cancer.Material and methods. The study included 67 metastatic renal cancer patients and 445 control individuals. Detection of WRN gene mutations was performed using melting curve analysis (HRM) on the CFX96 Real-Time PCR Analyzer (Bio Rad) using the Eva Green dye.Results and discussion. As a result of the screening WRN *c.R1406X mutation wasn’t revealed among patients with metastatic kidney cancer. The search for this mutation in the control group revealed six individuals who carried the mutant variant WRN *c.R1406X (1.35%) in the Russian group. In exon 4 of the WRN gene in 44 patients with renal cancer (65.6%) we found a missense mutation p. V114I. According to the analysis of functional significance using 10 predictive programs, p. V114I has a low degree of pathogenicity.Conclusion. It is shown that the WRN *c.R1406X mutation is not the cause of metastatic renal cancer.