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Genetic polymorphisms in human telomerase reverse transcriptase (hTERT) gene polymorphisms do not associated with breast cancer in patients in a turkish population: hospital-based case-control study
Corresponding Author(s) : Muhsin Aydin
Cellular and Molecular Biology,
Vol. 64 No. 3: Issue 3
Abstract
Breast cancer (BC) is encountered most frequently in developed or developing countries. It is the most common cancer in humans following lung cancer, and it is the most common cancer type resulting in mortality in women. Genetic polymorphisms are among the genetic factors that play an important role in the development of the breast cancer. The purpose of this study was to investigate the effect of five functional single nucleotide polymorphisms (SNPs) of hTERT (rs2736109 G>A, rs2735940 T>C, rs2853669 A>G, rs2736098 G>A, and rs2736100 T>G) on susceptibility to BC in Turkish population. The genotype frequency of hTERT rs2736109 G>A, rs2735940 T>C, rs2853669 A>G, rs2736098 G>A, and rs2736100 T>G polymorphisms were determined by using a polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) and TaqMan methods in 123 subjects with GC and 122 healthy control subjects. The mean age value of the BC patients was 51.58±11.28 (among them 8 subjects ≤35 and 115 subjects >35). In this study, it was found that there was no statistical difference between hTERT rs2736109 G>A, rs2735940 T>C, rs2853669 A>G, rs2736098 G>A, and rs2736100 T>G polymorphisms that can be associated with risk of BC.
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- Ferlay J, Soerjomataram I, Dikshit R, Eser S, Mathers C, Rebelo M, et al. Cancer incidence and mortality worldwide: sources, methods and major patterns in GLOBOCAN 2012. Int J Cancer 2014; 136:359-86.
- Ferlay J, Soerjomataram I, Ervik M, Dikshit R, Eser S, et al. GLOBOCAN 2012 v1.0, cancer incidence and mortality worldwide: IARC Cancer Base No. 11 [Internet]. Lyon, France: International Agency for Research on Cancer; 2013. Available from: http://globocan.iarc.fr accessed on 20/10/2017.
- Siegel RL, Miller KD, Jemal A. Cancer Statistics, 2015. CA Cancer J Clin 2015; 65:5–29.
- Mavaddat N, Antoniou AC, Easton DF, Garcia-Closas M. Genetic susceptibility to breast cancer. Mol Oncol 2010; 4(3):174–91.
- Yu JC, Ding SL, Chang CH, Kuo SH, Chen ST, Hsu GC, et al. Genetic susceptibility to the development and progression of breast cancer associated with polymorphism of cell cycle and ubiquitin ligase genes. Carcinogenesis 2009; 30(9):1562–70.
- Sarek G, Marzec P, Margalef P, Boulton SJ. Molecular basis of telomere dysfunction in human genetic diseases. Nat Struct Mol Biol; 22:867–74.
- Murnane, JP. Telomeres and chromosome instability. DNA Repair (Amst) 2006; 5:1082–92.
- Kong CM, Lee XW, Wang X. Telomere shortening in human diseases. FEBS J 2013; 280:3180–93.
- Wick M, Zubov D, Hagen G. Genomic organization and promoter characterization of the gene encoding the human telomerase reverse transcriptase (hTERT). Gene 1999; 232(1):97-106.
- Edge SB, Compton CC. The American Joint Committee on Cancer: the 7th edition of the AJCC cancer staging manual and the future of TNM. Ann SurgOncol. 2010; 17(6):1471–4.
- Li ZY, Dong YL, Feng Y, Zhang Z, Cao XZ. Polymorphisms in the telomerase reverse transcriptase promoter are associated with risk of breast cancer: A meta-analysis. J Cancer Res Therapeutics 2016; 12(2):1040-4.
- Hanahan D, Weinberg RA. Hallmarks of cancer: The next generation. Cell 2011; 144:646-74.
- Taylor JG, Choi EH, Foster CB, Chanock SJ. Using genetic variation to study human disease. Trends Mol Med 2001; 7(11):507–12.
- Ludwig JA, Weinstein JN. Biomarkers in cancer staging, prognosis and treatment selection. Nat Rev Cancer 2005; 5:845–56.
- Peng Z, Tian D, Chen Q, Zhang S, Liu B, Ji B. Telomerase reverse transcriptase (TERT) rs2736100 polymorphism contributes to increased risk of glioma: Evidence from a meta-analysis. Int J Clin Exp Med 2015; 8:422-30.
- Zhou P, Wei L, Xia X, Shao N, Qian X, Yang Y. Association between telomerase reverse transcriptase rs2736100 polymorphism and risk of glioma. J Surg Res 2014; 191:156-60.
- Bayram S, íœlger Y, Sümbül AT, Kaya BY, Genç A, Rencüzoğulları E, Dadaş E. Polymorphisms in human telomerase reverse transcriptase (hTERT) gene and susceptibility to gastric cancer in a Turkish population: Hospital-based case–control study. Gene 2016; 585:84–92.
- Liu CL, Zang XX, Wang C, Kong YL, Zhang H, Zhang HY. Association between CLPTM1L-TERT rs401681 polymorphism and risk of pancreatic cancer: A meta-analysis. Clin Exp Med 2015; 15(4):477-82.
- Yang J, Jiao S. Increased lung cancer risk associated with the TERT rs2736100 polymorphism: An updated meta-analysis. Tumour Biol 2014; 35:5763-9.
- Hashemi M, Amininia S, Ebrahimi M, Hashemi SM, Taheri M, Ghavami S. Association between hTERT polymorphisms and the risk of breast cancer in a sample of Southeast Iranian population. BMC Res Notes 2014; 7:895.
- Zhang J, Ju H, Gao JR, Jiao XL, Lu Y. Polymorphisms in human telomerase reverse transcriptase (hTERT) gene, gene- gene and gene-smoking interaction with susceptibility to gastric cancer in Chinese Han population. Oncotarget, 2017; 8(12): 20235-43.
- Shadrina AS, Boyarskikh UA, Oskina NA, Sinkina TV, Lazarev AF, Petrova VD, Filipenko ML. TERT polymorphisms rs2853669 and rs7726159 influence on prostate cancer risk in Russian population. Tumour Biol 2015; 36(2): 841-7.
References
Ferlay J, Soerjomataram I, Dikshit R, Eser S, Mathers C, Rebelo M, et al. Cancer incidence and mortality worldwide: sources, methods and major patterns in GLOBOCAN 2012. Int J Cancer 2014; 136:359-86.
Ferlay J, Soerjomataram I, Ervik M, Dikshit R, Eser S, et al. GLOBOCAN 2012 v1.0, cancer incidence and mortality worldwide: IARC Cancer Base No. 11 [Internet]. Lyon, France: International Agency for Research on Cancer; 2013. Available from: http://globocan.iarc.fr accessed on 20/10/2017.
Siegel RL, Miller KD, Jemal A. Cancer Statistics, 2015. CA Cancer J Clin 2015; 65:5–29.
Mavaddat N, Antoniou AC, Easton DF, Garcia-Closas M. Genetic susceptibility to breast cancer. Mol Oncol 2010; 4(3):174–91.
Yu JC, Ding SL, Chang CH, Kuo SH, Chen ST, Hsu GC, et al. Genetic susceptibility to the development and progression of breast cancer associated with polymorphism of cell cycle and ubiquitin ligase genes. Carcinogenesis 2009; 30(9):1562–70.
Sarek G, Marzec P, Margalef P, Boulton SJ. Molecular basis of telomere dysfunction in human genetic diseases. Nat Struct Mol Biol; 22:867–74.
Murnane, JP. Telomeres and chromosome instability. DNA Repair (Amst) 2006; 5:1082–92.
Kong CM, Lee XW, Wang X. Telomere shortening in human diseases. FEBS J 2013; 280:3180–93.
Wick M, Zubov D, Hagen G. Genomic organization and promoter characterization of the gene encoding the human telomerase reverse transcriptase (hTERT). Gene 1999; 232(1):97-106.
Edge SB, Compton CC. The American Joint Committee on Cancer: the 7th edition of the AJCC cancer staging manual and the future of TNM. Ann SurgOncol. 2010; 17(6):1471–4.
Li ZY, Dong YL, Feng Y, Zhang Z, Cao XZ. Polymorphisms in the telomerase reverse transcriptase promoter are associated with risk of breast cancer: A meta-analysis. J Cancer Res Therapeutics 2016; 12(2):1040-4.
Hanahan D, Weinberg RA. Hallmarks of cancer: The next generation. Cell 2011; 144:646-74.
Taylor JG, Choi EH, Foster CB, Chanock SJ. Using genetic variation to study human disease. Trends Mol Med 2001; 7(11):507–12.
Ludwig JA, Weinstein JN. Biomarkers in cancer staging, prognosis and treatment selection. Nat Rev Cancer 2005; 5:845–56.
Peng Z, Tian D, Chen Q, Zhang S, Liu B, Ji B. Telomerase reverse transcriptase (TERT) rs2736100 polymorphism contributes to increased risk of glioma: Evidence from a meta-analysis. Int J Clin Exp Med 2015; 8:422-30.
Zhou P, Wei L, Xia X, Shao N, Qian X, Yang Y. Association between telomerase reverse transcriptase rs2736100 polymorphism and risk of glioma. J Surg Res 2014; 191:156-60.
Bayram S, íœlger Y, Sümbül AT, Kaya BY, Genç A, Rencüzoğulları E, Dadaş E. Polymorphisms in human telomerase reverse transcriptase (hTERT) gene and susceptibility to gastric cancer in a Turkish population: Hospital-based case–control study. Gene 2016; 585:84–92.
Liu CL, Zang XX, Wang C, Kong YL, Zhang H, Zhang HY. Association between CLPTM1L-TERT rs401681 polymorphism and risk of pancreatic cancer: A meta-analysis. Clin Exp Med 2015; 15(4):477-82.
Yang J, Jiao S. Increased lung cancer risk associated with the TERT rs2736100 polymorphism: An updated meta-analysis. Tumour Biol 2014; 35:5763-9.
Hashemi M, Amininia S, Ebrahimi M, Hashemi SM, Taheri M, Ghavami S. Association between hTERT polymorphisms and the risk of breast cancer in a sample of Southeast Iranian population. BMC Res Notes 2014; 7:895.
Zhang J, Ju H, Gao JR, Jiao XL, Lu Y. Polymorphisms in human telomerase reverse transcriptase (hTERT) gene, gene- gene and gene-smoking interaction with susceptibility to gastric cancer in Chinese Han population. Oncotarget, 2017; 8(12): 20235-43.
Shadrina AS, Boyarskikh UA, Oskina NA, Sinkina TV, Lazarev AF, Petrova VD, Filipenko ML. TERT polymorphisms rs2853669 and rs7726159 influence on prostate cancer risk in Russian population. Tumour Biol 2015; 36(2): 841-7.