FREQUENCY OF THE TERT RS2853669 POLYMORPHISM IN MELANOMA PATIENTS RESIDING IN THE EASTERN SIBERIA REGION

DOI: https://doi.org/10.29296/24999490-2019-05-08

R.N. Belonogov, S.N. Lavrentev, N.V. Palkina, A.V. Komina, A.V. Motorina, A.K. Mikhailova, A.N. Narkevich, T.G. Ruksha V.F. Voino-Yasenetsky Krasnoyarsk State Medical University, Partizana Zheleznyaka str, 1, Krasnoyarsk, 660022, Russian Federation E-mail: [email protected]

Introduction. The telomerase reverse transcriptase gene (TERT) promoter region is frequently mutated in different types of cancer. Several studies have shown patients who carry the mutation –245T>C (rs2853669) to have a worse prognosis. The aim of the study is to analyze the frequency of the single nucleotide polymorphism (rs2853669) in melanoma patients and healthy cases possessing wild-type (TT) and variant (CT+CC) alleles residing in an Eastern Siberia region population in the Russian Federation. Methods. DNA was obtained from healthy volunteers and melanoma patients. The TERT rs2853669 polymorphism was determined based on the real time-PCR assay. Additionally, such characteristics as age, sex, Fitzpatrick skin phototype, eye and hair color, nevi count, localization of the tumor, and Breslow thickness) in melanoma patients were evaluated. Results. The frequency of the TERT single nucleotide polymorphism in the promoter region –245T>C (rs2853669) was found to be similar within both melanoma patients and healthy cases; these results correspond to other studies on TERT rs2853669 polymorphism distribution within European populations. Melanoma patients with blue eyes and blond hair were more frequent wild-type homozygotes. Conclusion. As increased telomerase activity is associated with the replicative immortality of melanocytes, –245T>C may affect melanogenesis and lead to an increased risk of the malignant transformation of cells.
Keywords: 
melanoma, rs2853669, TERT gene promoter polymorphism
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