Sensitive detection of BRAF V600E mutation by Amplification Refractory Mutation System (ARMS)-PCR

Biomarker Research

Volumn 1, Issue 1, 2013, Pages

  Huang, Tiangui ^a   Zhuge, Jian ^a   Zhang, Wenyong W ^a  

^a NEW YORK MEDICAL COLLEGE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DIDEOXYNUCLEOTIDE;

AMPLIFICATION REFRACTORY MUTATION SYSTEM POLYMERASE CHAIN REACTION; ARTICLE; BRAF GENE; CELL STRAIN HT29; DNA EXTRACTION; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; HUMAN TISSUE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SENSITIVITY ANALYSIS; THYROID PAPILLARY CARCINOMA; THYROID TUMOR;

EID: 84899662608     PISSN: None     EISSN: 20507771     Source Type: Journal    
DOI: 10.1186/2050-7771-1-3     Document Type: Article

References (36)

1. Ciardiello F, Tortora G. EGFR antagonists in cancer treatment. N Engl J Med 2008, 358:1160-1174. 10.1056/NEJMra0707704, 18337605.
2. Zhang BH, Guan KL. Activation of B-Raf kinase requires phosphorylation of the conserved residues Thr598 and Ser601. EMBO J 2000, 19:5429-5439. 10.1093/emboj/19.20.5429, 314015, 11032810.
3. Turjanski AG, Vaque JP, Gutkind JS. MAP kinases and the control of nuclear events. Oncogene 2007, 26:3240-3253. 10.1038/sj.onc.1210415, 17496919.
4. Pratilas CA, Solit DB. Therapeutic strategies for targeting BRAF in human cancer. Rev Recent Clin Trials 2007, 2:121-134. 10.2174/157488707780599393, 18473997.
5. Tiacci E, Trifonov V, Schiavoni G, Holmes A, Kern W, Martelli MP, Pucciarini A, Bigerna B, Pacini R, Wells VA, et al. BRAF mutations in hairy-cell leukemia. N Engl J Med 2011, 364:2305-2315. 10.1056/NEJMoa1014209, 21663470.
6. Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, Teague J, Woffendin H, Garnett MJ, Bottomley W, et al. Mutations of the BRAF gene in human cancer. Nature 2002, 417:949-954. 10.1038/nature00766, 12068308.
7. Nikiforova MN, Kimura ET, Gandhi M, Biddinger PW, Knauf JA, Basolo F, Zhu Z, Giannini R, Salvatore G, Fusco A, et al. BRAF mutations in thyroid tumors are restricted to papillary carcinomas and anaplastic or poorly differentiated carcinomas arising from papillary carcinomas. J Clin Endocrinol Metab 2003, 88:5399-5404. 10.1210/jc.2003-030838, 14602780.
8. Xing M. BRAF mutation in thyroid cancer. Endocr Relat Cancer 2005, 12:245-262. 10.1677/erc.1.0978, 15947100.
9. Di Nicolantonio F, Martini M, Molinari F, Sartore-Bianchi A, Arena S, Saletti P, De Dosso S, Mazzucchelli L, Frattini M, Siena S, Bardelli A. Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer. J Clin Oncol 2008, 26:5705-5712. 10.1200/JCO.2008.18.0786, 19001320.
10. Siena S, Sartore-Bianchi A, Di Nicolantonio F, Balfour J, Bardelli A. Biomarkers predicting clinical outcome of epidermal growth factor receptor-targeted therapy in metastatic colorectal cancer. J Natl Cancer Inst 2009, 101:1308-1324. 10.1093/jnci/djp280, 2758310, 19738166.
11. Normanno N, Tejpar S, Morgillo F, De Luca A, Van Cutsem E, Ciardiello F. Implications for KRAS status and EGFR-targeted therapies in metastatic CRC. Nature reviews 2009, 6:519-527.
12. Salvatore G, Giannini R, Faviana P, Caleo A, Migliaccio I, Fagin JA, Nikiforov YE, Troncone G, Palombini L, Basolo F, Santoro M. Analysis of BRAF point mutation and RET/PTC rearrangement refines the fine-needle aspiration diagnosis of papillary thyroid carcinoma. J Clin Endocrinol Metab 2004, 89:5175-5180. 10.1210/jc.2003-032221, 15472223.
13. Cohen Y, Rosenbaum E, Clark DP, Zeiger MA, Umbricht CB, Tufano RP, Sidransky D, Westra WH. Mutational analysis of BRAF in fine needle aspiration biopsies of the thyroid: a potential application for the preoperative assessment of thyroid nodules. Clin Cancer Res 2004, 10:2761-2765. 10.1158/1078-0432.CCR-03-0273, 15102681.
14. Jin L, Sebo TJ, Nakamura N, Qian X, Oliveira A, Majerus JA, Johnson MR, Lloyd RV. BRAF mutation analysis in fine needle aspiration (FNA) cytology of the thyroid. Diagn Mol Pathol 2006, 15:136-143. 10.1097/01.pdm.0000213461.53021.84, 16932068.
15. Pichler M, Balic M, Stadelmeyer E, Ausch C, Wild M, Guelly C, Bauernhofer T, Samonigg H, Hoefler G, Dandachi N. Evaluation of high-resolution melting analysis as a diagnostic tool to detect the BRAF V600E mutation in colorectal tumors. J Mol Diagn 2009, 11:140-147. 10.2353/jmoldx.2009.080100, 2665863, 19213871.
16. Jarry A, Masson D, Cassagnau E, Parois S, Laboisse C, Denis MG. Real-time allele-specific amplification for sensitive detection of the BRAF mutation V600E. Mol Cell Probes 2004, 18:349-352. 10.1016/j.mcp.2004.05.004, 15294323.
17. Pinzani P, Santucci C, Mancini I, Simi L, Salvianti F, Pratesi N, Massi D, De Giorgi V, Pazzagli M, Orlando C. BRAFV600E detection in melanoma is highly improved by COLD-PCR. Clin Chim Acta 2011, 412:901-905. 10.1016/j.cca.2011.01.014, 21262211.
18. Monzon FA, Ogino S, Hammond ME, Halling KC, Bloom KJ, Nikiforova MN. The role of KRAS mutation testing in the management of patients with metastatic colorectal cancer. Arch Pathol Lab Med 2009, 133:1600-1606.
19. Chen Q, Lu P, Jones AV, Cross NC, Silver RT, Wang YL. Amplification refractory mutation system, a highly sensitive and simple polymerase chain reaction assay, for the detection of JAK2 V617F mutation in chronic myeloproliferative disorders. J Mol Diagn 2007, 9:272-276. 10.2353/jmoldx.2007.060133, 1867436, 17384221.
20. Melanie JP, Mary Frances M. The V617F JAK2 mutation and the myeloproliferative disorders. Hematol Oncol 2005, 23:91-93. 10.1002/hon.761, 16285006.
21. Ellison G, Donald E, McWalter G, Knight L, Fletcher L, Sherwood J, Cantarini M, Orr M, Speake G. A comparison of ARMS and DNA sequencing for mutation analysis in clinical biopsy samples. J Exp Clin Cancer Res 2010, 29:132. 10.1186/1756-9966-29-132, 2988723, 20925915.
22. Tan YH, Liu Y, Eu KW, Ang PW, Li WQ, Salto-Tellez M, Iacopetta B, Soong R. Detection of BRAF V600E mutation by pyrosequencing. Pathology 2008, 40:295-298. 10.1080/00313020801911512, 18428050.
23. Lee ST, Kim SW, Ki CS, Jang JH, Shin JH, Oh YL, Kim JW, Chung JH. Clinical implication of highly sensitive detection of the BRAF V600E mutation in fine-needle aspirations of thyroid nodules: a comparative analysis of three molecular assays in 4585 consecutive cases in a BRAF V600E mutation-prevalent area. J Clin Endocrinol Metab 2012, 97:2299-2306. 10.1210/jc.2011-3135, 22500044.
24. Kimura ET, Nikiforova MN, Zhu Z, Knauf JA, Nikiforov YE, Fagin JA. High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinoma. Cancer Res 2003, 63:1454-1457.
25. Xu X, Quiros RM, Gattuso P, Ain KB, Prinz RA. High prevalence of BRAF gene mutation in papillary thyroid carcinomas and thyroid tumor cell lines. Cancer Res 2003, 63:4561-4567.
26. Cohen Y, Xing M, Mambo E, Guo Z, Wu G, Trink B, Beller U, Westra WH, Ladenson PW, Sidransky D. BRAF mutation in papillary thyroid carcinoma. J Natl Cancer Inst 2003, 95:625-627. 10.1093/jnci/95.8.625, 12697856.
27. Trovisco V, de Castro Vieira I, Soares P, Maximo V, Silva P, Magalhaes J, Abrosimov A, Guiu XM, Sobrinho-Simoes M. BRAF mutations are associated with some histological types of papillary thyroid carcinoma. J Pathol 2004, 202:247-251. 10.1002/path.1511, 14743508.
28. Kim KH, Kang DW, Kim SH, Seong IO, Kang DY. Mutations of the BRAF gene in papillary thyroid carcinoma in a Korean population. Yonsei Med J 2004, 45:818-821.
29. Domingo E, Laiho P, Ollikainen M, Pinto M, Wang L, French AJ, Westra J, Frebourg T, Espin E, Armengol M, et al. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet 2004, 41:664-668. 10.1136/jmg.2004.020651, 1735885, 15342696.
30. Domingo E, Niessen RC, Oliveira C, Alhopuro P, Moutinho C, Espin E, Armengol M, Sijmons RH, Kleibeuker JH, Seruca R, et al. BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes. Oncogene 2005, 24:3995-3998. 10.1038/sj.onc.1208569, 15782118.
31. Tsai J, Lee JT, Wang W, Zhang J, Cho H, Mamo S, Bremer R, Gillette S, Kong J, Haass NK, et al. Discovery of a selective inhibitor of oncogenic B-Raf kinase with potent antimelanoma activity. Proc Natl Acad Sci U S A 2008, 105:3041-3046. 10.1073/pnas.0711741105, 2268581, 18287029.
32. Nikiforova MN, Nikiforov YE. Molecular genetics of thyroid cancer: implications for diagnosis, treatment and prognosis. Expert Rev Mol Diagn 2008, 8:83-95. 10.1586/14737159.8.1.83, 18088233.
33. Benoit NE, Goldenberg D, Deng SX, Rosenbaum E, Cohen Y, Califano JA, Shackelford WH, Wang XB, Sidransky D. Colorimetric approach to high-throughput mutation analysis. Biotechniques 2005, 38:635-639. 10.2144/05384PF01, 15884682.
34. Lang AH, Drexel H, Geller-Rhomberg S, Stark N, Winder T, Geiger K, Muendlein A. Optimized allele-specific real-time PCR assays for the detection of common mutations in KRAS and BRAF. J Mol Diagn 2011, 13:23-28. 10.1016/j.jmoldx.2010.11.007, 3070579, 21227391.
35. Morandi L, de Biase D, Visani M, Cesari V, De Maglio G, Pizzolitto S, Pession A, Tallini G. Allele Specific Locked Nucleic Acid Quantitative PCR (ASLNAqPCR): an accurate and cost-effective assay to diagnose and quantify KRAS and BRAF mutation. PLoS One 2012, 7:e36084. 10.1371/journal.pone.0036084, 3340405, 22558339.
36. Lee ST, Kim SW, Ki CS, Jang JH, Shin JH, Oh YL, Kim JW, Chung JH. Clinical implication of highly sensitive detection of the BRAF V600E mutation in fine-needle aspirations of thyroid nodules: a comparative analysis of three molecular assays in 4585 consecutive cases in a BRAF V600E mutation-prevalent area. J Clin Endocrinol Metab 2012, 97:2299-2306. 10.1210/jc.2011-3135, 22500044.