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Neoplasma Vol.64, No.6, p.962-970, 2017 |
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Title: Distribution of the most common polymorphisms in TYMS gene in Slavic population of central Europe | ||
Author: A. Pastorakova, D. Chandogova, J. Chandoga, J. Luha, D. Bohmer, J. Malova, T. Braxatorisova, M. Juhosova, S. Reznakova, R. Petrovic | ||
Abstract: Thymidylate synthetase (TS) plays a critical role in the de novo synthesis of dTMP inside the cell. Therefore, TS is a suitable target for cytotoxic drugs such as fluoropyrimidines. Drug efficacy and toxicity depend on the intracellular level of TS, which is significantly influenced by the polymorphisms in the 5’UTR (TSER – rs45445694, TSER*3G>C – rs2853542) and 3’UTR (1494del TTAAAG – rs151264360) of TYMS gene. Polymorphic variants of TYMS gene affect TS activity via gene expression and transcript stability. Patients who undergo fluoropyrimidine therapy may benefit from genetic testing prior to the administration of chemotherapy. At the 5’ terminus of TYMS, there is a polymorphic region represented by a variable number of 28bp long tandem repeats (2-9 tandems) with the G or C nucleotide variant (SNP G>C). The 3’end of TYMS gene may decrease the stability of mRNA in the case of 6 base deletion (1494del6, D). In our study, we have focused on testing of TYMS gene polymorphisms, determination of TYMS variant frequencies in Western Slavic population and comparison of Slovak population with other populations. |
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Keywords: fluoropyrimidines, thymidylate synthetase, pharmacogenetics, polymorphism, Slovak | ||
Published online: 14-Nov-2017 | ||
Year: 2017, Volume: 64, Issue: 6 | Page From: 962, Page To: 970 | |
doi:10.4149/neo_2017_620 |
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