Clinicopathological Significance of BRAF (V600E), NRAS (Q61K) and TERT (C228T, C250T and SNP Rs2853669) Mutations in Bulgarian Papillary Thyroid Carcinoma Patients

1. Dupuy, A., Simon, R.M. Critical Review of Published Microarray Studies for Cancer Outcome and Guidelines on Statistical Analysis and Reporting. JNCI J. Natl. Cancer Inst. 2007,99, 147-157. https://doi.org/10.1093/jnci/djk01810.1093/jnci/djk01817227998Search in Google Scholar

2. Elisei, R., Viola, D., Torregrossa, L et al. The BRAF(V600E) mutation is an independent, poor prognostic factor for the outcome of patients with low-risk intrathyroid papillary thyroid carcinoma: single-institution results from a large cohort study. J Clin Endocrinol Metab. 2012,97, 4390-4398. https://doi.org/10.1210/jc.2012-177510.1210/jc.2012-177523066120Search in Google Scholar

3. Liu, C., Chen, T., Liu, Z. Associations between BRAF(V600E) and prognostic factors and poor outcomes in papillary thyroid carcinoma: a meta-analysis. World J Surg Oncol. 2016,14, 241. https://doi.org/10.1186/s12957-016-0979-110.1186/s12957-016-0979-1501208427600854Search in Google Scholar

4. Wang, N., Xu, D., Sofiadis, A et al. Telomerase-dependent and independent telomere maintenance and its clinical implications in medullary thyroid carcinoma. J Clin Endocrinol Metab. 2014,99, E1571-9. https://doi.org/10.1210/jc.2014-115810.1210/jc.2014-1158420793124758186Search in Google Scholar

5. Nikiforov, Y.E., Nikiforova, M.N. Molecular genetics and diagnosis of thyroid cancer. Nat Rev Endocrinol. 2011,7, 569-580. https://doi.org/10.1038/nrendo.2011.14210.1038/nrendo.2011.14221878896Search in Google Scholar

6. Romei, C., Ciampi, R., Faviana, P et al. BRAFV600E mutation, but not RET/PTC rearrangements, is correlated with a lower expression of both thyroperoxidase and sodium iodide sym-porter genes in papillary thyroid cancer. Endocr Relat Cancer. 2008,15, 511-520. https://doi.org/10.1677/erc-07-013010.1677/ERC-07-013018509003Search in Google Scholar

7. Riesco-Eizaguirre, G., Gutierrez-Martinez, P., Garcia-Cabezas, M.A et al. The oncogene BRAF V600E is associated with a high risk of recurrence and less differentiated papillary thyroid carcinoma due to the impairment of Na+/I- targeting to the membrane. Endocr Relat Cancer. 2006, 13, 257-269. https://doi.org/10.1677/erc.1.0111910.1677/erc.1.0111916601293Search in Google Scholar

8. George, J.R., Henderson, Y.C., Williams, M.D et al. Association of TERT Promoter Mutation, But Not BRAF Mutation, With Increased Mortality in PTC. J Clin Endocrinol Metab. 2015,100, E1550-9. https://doi.org/10.1210/jc.2015-269010.1210/jc.2015-2690466715826461266Search in Google Scholar

9. Eloy, C., Santos, J., Soares, P., Sobrinho-Simões, M. The preeminence of growth pattern and invasiveness and the limited influence of BRAF and RAS mutations in the occurrence of papillary thyroid carcinoma lymph node metastases. Virchows Arch. 2011,459, 265.10.1007/s00428-011-1133-7Search in Google Scholar

10. Liu, R., Xing, M. Diagnostic and Prognostic TERT Promoter Mutations in Thyroid Fine Needle Aspiration Biopsy. Endocr. Relat. Cancer. 2014,21, 825.10.1530/ERC-14-0359Search in Google Scholar

11. Liu, X., Wu, G., Shan, Y et al. Highly prevalent TERT promoter mutations in bladder cancer and glioblastoma. Cell cycle. 2013,12, 1637-1638.10.4161/cc.24662Search in Google Scholar

12. Melo, M., da Rocha, A.G., Vinagre, J et al. TERT promoter mutations are a major indicator of poor outcome in differentiated thyroid carcinomas. J Clin Endocrinol Metab. 2014,99, E754-65. https://doi.org/10.1210/jc.2013-373410.1210/jc.2013-3734419154824476079Search in Google Scholar

13. Avares, C., Melo, M., Cameselle-Teijeiro, J.M et al. ENDOCRINE TUMOURS: Genetic predictors of thyroid cancer outcome. 2016,174, R117. https://doi.org/10.1530/eje-15-060510.1530/EJE-15-060526510840Search in Google Scholar

14. Xing, M., Liu, R., Liu, X et al. BRAF V600E and TERT promoter mutations cooperatively identify the most aggressive papillary thyroid cancer with highest recurrence. J Clin Oncol. 2014, 32, 2718-2726. https://doi.org/10.1200/jco.2014.55.509410.1200/JCO.2014.55.5094414518325024077Search in Google Scholar

15. Muzza, M., Colombo, C., Rossi, S et al. Telomerase in differentiated thyroid cancer: promoter mutations, expression and localization. Mol. Cell. Endocrinol. 2015,399, 288-295.10.1016/j.mce.2014.10.019Search in Google Scholar

16. Kachuri, L., Latifovic, L., Liu, G., Hung, R.J. Systematic review of genetic variation in chromosome 5p15. 33 and telo-mere length as predictive and prognostic biomarkers for lung cancer. Cancer Epidemiol. Prev. Biomarkers. 2016,25, 1537-1549.10.1158/1055-9965.EPI-16-0200Search in Google Scholar

17. Killedar, A., Stutz, M.D., Sobinoff, A.P et al. A common cancer risk-associated allele in the hTERT locus encodes a dominant negative inhibitor of telomerase. PLoS Genet. 2015,11.10.1371/journal.pgen.1005286445997526053551Search in Google Scholar

18. Shen, N., Lu, Y., Wang, X et al. Association between rs2853669 in TERT gene and the risk and prognosis of human cancer: a systematic review and meta-analysis. Onco-target. 2017,8, 50864-50872. https://doi.org/10.18632/onco-target.1514010.18632/oncotarget.15140Search in Google Scholar

19. Nencha, U., Rahimian, A., Giry, M et al. TERT promoter mutations and rs2853669 polymorphism: prognostic impact and interactions with common alterations in glioblastomas. J. Neurooncol. 2016,126, 441-446.10.1007/s11060-015-1999-3Search in Google Scholar

20. Basolo, F., Torregrossa, L., Giannini, R et al. Correlation between the BRAF V600E mutation and tumor invasiveness in papillary thyroid carcinomas smaller than 20 millimeters: analysis of 1060 cases. J. Clin. Endocrinol. Metab. 2010,95, 4197-4205.10.1210/jc.2010-0337Search in Google Scholar

21. Xing, M., Tufano, R.P., Tufaro, A.P et al. Detection of BRAF mutation on fine needle aspiration biopsy specimens: a new diagnostic tool for papillary thyroid cancer. J. Clin. Endocrinol. Metab. 2004,89, 2867-2872.10.1210/jc.2003-032050Search in Google Scholar

22. Tufano, R.P., Teixeira, G. V, Bishop, J et al. BRAF mutation in papillary thyroid cancer and its value in tailoring initial treatment: a systematic review and meta-analysis. Med. 2012,91, 274-286. https://doi.org/10.1097/MD.0b013e31826a9c7110.1097/MD.0b013e31826a9c7122932786Search in Google Scholar

23. Kim, J., Giuliano, A.E., Turner, R.R et al. Lymphatic mapping establishes the role of BRAF gene mutation in papillary thyroid carcinoma. Ann. Surg. 2006,244, 799.10.1097/01.sla.0000224751.80858.13Search in Google Scholar

24. Yan, C., Huang, M., Li, X et al. Relationship between BRAF V600E and clinical features in papillary thyroid carcinoma. Endocr. Connect. 2019,8, 988-996. https://doi.org/10.1530/EC-19-024610.1530/EC-19-0246665224431252408Search in Google Scholar

25. Xing, M., Alzahrani, A.S., Carson, K.A et al. Association between BRAF V600E mutation and recurrence of papillary thyroid cancer. J Clin Oncol. 2015,33, 42-50. https://doi.org/10.1200/jco.2014.56.825310.1200/JCO.2014.56.8253426825225332244Search in Google Scholar

26. Kebebew, E., Weng, J., Bauer, J et al. The prevalence and prognostic value of BRAF mutation in thyroid cancer. Ann. Surg. 2007,246, 461-466. https://doi.org/10.1097/SLA.0b013e318148563d10.1097/SLA.0b013e318148563d195935917717450Search in Google Scholar

27. Kurtulmus, N., Duren, M., Ince, U et al. BRAF(V600E) mutation in Turkish patients with papillary thyroid cancer: strong correlation with indicators of tumor aggressiveness. Endocrine. 2012,42, 404-410. https://doi.org/10.1007/s12020-012-9651-x10.1007/s12020-012-9651-x22426956Search in Google Scholar

28. Kim, S.K., Woo, J.-W., Lee, J.H et al. Chronic lymphocytic thyroiditis and BRAF V600E in papillary thyroid carcinoma. Endocr. Relat. Cancer. 2016,23, 27-34. https://doi.org/10.1530/ERC-15-040810.1530/ERC-15-040826598713Search in Google Scholar

29. Kim, T.H., Park, Y.J., Lim, J.A et al. The association of the BRAF(V600E) mutation with prognostic factors and poor clinical outcome in papillary thyroid cancer: a meta-analysis. Cancer. 2012,118, 1764-1773. https://doi.org/10.1002/cncr.2650010.1002/cncr.2650021882184Search in Google Scholar

30. Haugen, B.R. 2015 American Thyroid Association Management Guidelines for Adult Patients with Thyroid Nodules and Differentiated Thyroid Cancer: What is new and what has changed? Cancer. 2017,123, 372-381. https://doi.org/10.1002/cncr.3036010.1002/cncr.3036027741354Search in Google Scholar

31. Henke, L.E., Pfeifer, J.D., Ma, C et al. BRAF mutation is not predictive of long-term outcome in papillary thyroid carcinoma. Cancer Med. 2015,4, 791-799. https://doi.org/10.1002/cam4.41710.1002/cam4.417447220125712893Search in Google Scholar

32. Wang, T.S., Sosa, J.A. Thyroid surgery for differentiated thyroid cancer – recent advances and future directions. Nat. Rev. Endocrinol. 2018,14, 670-683. https://doi.org/10.1038/s41574-018-0080-710.1038/s41574-018-0080-730131586Search in Google Scholar

33. Li, G., Pan, T., Guo, D., Li, L.-C. Regulatory Variants and Disease: The E-Cadherin -160C/A SNP as an Example. Mol. Biol. Int. 2014,2014, 967565. https://doi.org/10.1155/2014/96756510.1155/2014/967565416765625276428Search in Google Scholar

34. Epstein, D.J. Cis-regulatory mutations in human disease. Brief. Funct. Genomic. Proteomic. 2009,8, 310-316. https://doi.org/10.1093/bfgp/elp02110.1093/bfgp/elp021274280319641089Search in Google Scholar

35. Heidenreich, B., Kumar, R. Altered TERT promoter and other genomic regulatory elements: occurrence and impact. 2017,141, 867-876. https://doi.org/10.1002/ijc.3073510.1002/ijc.3073528407294Search in Google Scholar

36. Ko, E., Seo, H.-W., Jung, E.S et al. The TERT promoter SNP rs2853669 decreases E2F1 transcription factor binding and increases mortality and recurrence risks in liver cancer. Oncotarget. 2016,7, 684-699. https://doi.org/10.18632/oncotarget.633110.18632/oncotarget.6331480802626575952Search in Google Scholar

37. Rachakonda, P.S., Hosen, I., de Verdier, P.J et al. TERT promoter mutations in bladder cancer affect patient survival and disease recurrence through modification by a common polymorphism. Proc. Natl. Acad. Sci. U. S. A. 2013,110, 17426-17431. https://doi.org/10.1073/pnas.131052211010.1073/pnas.1310522110380863324101484Search in Google Scholar

38. Hirokawa, T., Arimasu, Y., Chiba, T et al. Clinicopatho-logical significance of the single nucleotide polymorphism, rs2853669 within the TERT promoter in papillary thyroid carcinoma. Pathol. Int. 2020,70, 217-223. https://doi.org/10.1111/pin.1290010.1111/pin.1290031943527Search in Google Scholar

39. Argyropoulou, M., Veskoukis, A.S., Karanatsiou, P.-M et al. Low Prevalence of TERT Promoter, BRAF and RAS Mutations in Papillary Thyroid Cancer in the Greek Population. Pathol. Oncol. Res. 2020,26, 347-354. https://doi.org/10.1007/s12253-018-0497-210.1007/s12253-018-0497-230361901Search in Google Scholar

40. Qasem, E., Murugan, A.K., Al-Hindi, H et al. TERT promoter mutations in thyroid cancer: a report from a Middle Eastern population. Endocr. Relat. Cancer. 2015,22, 901-908. https://doi.org/10.1530/ERC-15-039610.1530/ERC-15-039626354077Search in Google Scholar

41. Huang, M., Yan, C., Xiao, J et al. Relevance and clinicopatho-logic relationship of BRAF V600E, TERT and NRAS mutations for papillary thyroid carcinoma patients in Northwest China. Diagn. Pathol. 2019,14, 74. https://doi.org/10.1186/s13000-019-0849-610.1186/s13000-019-0849-6662637831300059Search in Google Scholar

42. Vuong, H.G., Altibi, A.M.A., Duong, U.N.P., Hassell, L. Prognostic implication of BRAF and TERT promoter mutation combination in papillary thyroid carcinoma-A meta-analysis. Clin. Endocrinol. (Oxf). 2017, 87, 411-417. https://doi.org/10.1111/cen.1341310.1111/cen.1341328666074Search in Google Scholar