Detection of BRAF V600 mutations in metastatic melanoma: Comparison of the cobas 4800 and sanger sequencing assays

Journal of Molecular Diagnostics

Volumn 15, Issue 6, 2013, Pages 790-795

  Qu, Kevin ^a   Pan, Qiulu ^a   Zhang, Xi ^a   Rodriguez, Luis ^a   Zhang, Ke ^a   Li, Hairong ^a   Ho, Albert ^a   Sanders, Heather ^a   Sferruzza, Anthony ^a   Cheng, Shih Min ^a   Nguyen, Diedre ^a   Jones, Dan ^a   Waldman, Frederic ^a  

^a QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; GENOMIC DNA;

ADULT; ARTICLE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; METASTATIC MELANOMA; MOLECULAR DIAGNOSTICS; PREDICTIVE VALUE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; AGED, 80 AND OVER; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; HUMANS; MELANOMA; MIDDLE AGED; MUTATION, MISSENSE; PROTO-ONCOGENE PROTEINS B-RAF; SENSITIVITY AND SPECIFICITY; SKIN NEOPLASMS;

EID: 84886040195     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2013.07.003     Document Type: Article

References (26)

1. E.P. Simard, E.M. Ward, R. Siegel, and A. Jemal Cancers with increasing incidence trends in the United States: 1999 through 2008 CA Cancer J Clin 62 2012 118 128
2. V.E. Cokkinides, A.C. Geller, and A. Jemal Trends in melanoma mortality among non-Hispanic whites by educational attainment, 1993-2007 Arch Dermatol 148 2012 587 591
3. A. Jemal, M. Saraiya, P. Patel, S.S. Cherala, J. Barnholtz-Sloan, J. Kim, C.L. Wiggins, and P.A. Wingo Recent trends in cutaneous melanoma incidence and death rates in the United States, 1992-2006 J Am Acad Dermatol 65 2011 S17 S25
4. Howlader N, Noone AM, Krapcho M, Garshell J, Neyman N, Altekruse SF, et al (eds). SEER Cancer Statistics Review 1975-2009. Table 16.8 Melanoma of the Skin (Invasive): 5-Year Relative and Period Survival (Percent) by Race, Sex, Diagnosis Year, Stage and Age. Bethesda, MD: National Cancer Institute. Available at: http://seer.cancer.gov/csr/1975-2009-pops09/browse-csr.php? section=16&page=sect-16-table.08.html. Accessed July 17, 2012.
5. S.F. Altekruse, C.L. Kosary, M. Krapcho, N. Neyman, R. Aminou, and W. Waldron 2010 SEER Cancer Statistics Review, 1975-2007 2010 National Cancer Institute Bethesda
6. P.B. Chapman, A. Hauschild, C. Robert, J.B. Haanen, P. Ascierto, J. Larkin, R. Dummer, C. Garbe, A. Testori, M. Maio, D. Hogg, P. Lorigan, C. Lebbe, T. Jouary, D. Schadendorf, A. Ribas, S.J. O'Day, J.A. Sosman, J.M. Kirkwood, A.M. Eggermont, B. Dreno, K. Nolop, J. Li, B. Nelson, J. Hou, R.J. Lee, K.T. Flaherty, and G.A. McArthur Improved survival with vemurafenib in melanoma with BRAF V600E mutation N Engl J Med 364 2011 2507 2516
7. A. Hauschild, J.J. Grob, L.V. Demidov, T. Jouary, R. Gutzmer, M. Millward, P. Rutkowski, C.U. Blank, W.H. Miller Jr., E. Kaempgen, S. Martin-Algarra, B. Karaszewska, C. Mauch, V. Chiarion-Sileni, A.M. Martin, S. Swann, P. Haney, B. Mirakhur, M.E. Guckert, V. Goodman, and P.B. Chapman Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial Lancet 380 2012 358 365
8. H. Davies, G.R. Bignell, C. Cox, P. Stephens, S. Edkins, and S. Clegg Mutations of the BRAF gene in human cancer Nature 417 2002 949 954
9. N. Dhomen, and R. Marais BRAF signaling and targeted therapies in melanoma Hematol Oncol Clin North Am 23 2009 529 545 ix
10. C. Cohen, A. Zavala-Pompa, J.H. Sequeira, M. Shoji, D.G. Sexton, G. Cotsonis, F. Cerimele, B. Govindarajan, N. Macaron, and J.L. Arbiser Mitogen-activated protein kinase activation is an early event in melanoma progression Clin Cancer Res 8 2002 3728 3733
11. K. Satyamoorthy, G. Li, M.R. Gerrero, M.S. Brose, P. Volpe, B.L. Weber, B.P. Van, D.E. Elder, and M. Herlyn Constitutive mitogen-activated protein kinase activation in melanoma is mediated by both BRAF mutations and autocrine growth factor stimulation Cancer Res 63 2003 756 759
12. J.A. Sosman, K.B. Kim, L. Schuchter, R. Gonzalez, A.C. Pavlick, J.S. Weber, G.A. McArthur, T.E. Hutson, S.J. Moschos, K.T. Flaherty, P. Hersey, R. Kefford, D. Lawrence, I. Puzanov, K.D. Lewis, R.K. Amaravadi, B. Chmielowski, H.J. Lawrence, Y. Shyr, F. Ye, J. Li, K.B. Nolop, R.J. Lee, A.K. Joe, and A. Ribas Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib N Engl J Med 366 2012 707 714
13. J.C. Rubinstein, M. Sznol, A.C. Pavlick, S. Ariyan, E. Cheng, A. Bacchiocchi, H.M. Kluger, D. Narayan, and R. Halaban Incidence of the V600K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032 J Transl Med 8 2010 67
14. B. Amanuel, F. Grieu, J. Kular, M. Millward, and B. Iacopetta Incidence of BRAF p.Val600Glu and p.Val600Lys mutations in a consecutive series of 183 metastatic melanoma patients from a high incidence region Pathology 44 2012 357 359
15. A. Platz, S. Egyhazi, U. Ringborg, and J. Hansson Human cutaneous melanoma: a review of NRAS and BRAF mutation frequencies in relation to histogenetic subclass and body site Mol Oncol 1 2008 395 405
16. J. Li, L. Wang, H. Mamon, M.H. Kulke, R. Berbeco, and G.M. Makrigiorgos Replacing PCR with COLD-PCR enriches variant DNA sequences and redefines the sensitivity of genetic testing Nat Med 14 2008 579 584
17. C. Spittle, M.R. Ward, K.L. Nathanson, P.A. Gimotty, E. Rappaport, M.S. Brose, A. Medina, R. Letrero, M. Herlyn, and R.H. Edwards Application of a BRAF pyrosequencing assay for mutation detection and copy number analysis in malignant melanoma J Mol Diagn 9 2007 464 471
18. A. Didelot, C.D. Le, A. Luscan, A. Cazes, K. Pallier, J.F. Emile, P. Laurent-Puig, and H. Blons Competitive allele specific TaqMan PCR for KRAS, BRAF and EGFR mutation detection in clinical formalin fixed paraffin embedded samples Exp Mol Pathol 92 2012 275 280
19. G. Ellison, E. Donald, G. McWalter, L. Knight, L. Fletcher, J. Sherwood, M. Cantarini, M. Orr, and G. Speake A comparison of ARMS and DNA sequencing for mutation analysis in clinical biopsy samples J Exp Clin Cancer Res 29 2010 132
20. J. Dong, R.G. Phelps, R. Qiao, S. Yao, O. Benard, Z. Ronai, and S.A. Aaronson BRAF oncogenic mutations correlate with progression rather than initiation of human melanoma Cancer Res 63 2003 3883 3885
21. P. Carbonell, M.C. Turpin, D. Torres-Moreno, I. Molina-Martinez, J. Garcia-Solano, M. Perez-Guillermo, and P. Conesa-Zamora Comparison of allelic discrimination by dHPLC, HRM, and TaqMan in the detection of BRAF mutation V600E J Mol Diagn 13 2011 467 473
22. S. Anderson, K.J. Bloom, D.U. Vallera, J. Rueschoff, C. Meldrum, R. Schilling, B. Kovach, J.R. Lee, P. Ochoa, R. Langland, H. Halait, H.J. Lawrence, and M.C. Dugan Multisite analytic performance studies of a real-time polymerase chain reaction assay for the detection of BRAF V600E mutations in formalin-fixed, paraffin-embedded tissue specimens of malignant melanoma Arch Pathol Lab Med 136 2012 1385 1391
23. K.T. Flaherty, C. Robert, P. Hersey, P. Nathan, C. Garbe, M. Milhem, L.V. Demidov, J.C. Hassel, P. Rutkowski, P. Mohr, R. Dummer, U. Trefzer, J.M. Larkin, J. Utikal, B. Dreno, M. Nyakas, M.R. Middleton, J.C. Becker, M. Casey, L.J. Sherman, F.S. Wu, D. Ouellet, A.M. Martin, K. Patel, D. Schadendorf METRIC Study Group Improved survival with MEK inhibition in BRAF-mutated melanoma N Engl J Med 367 2012 107 114
24. G.V. Long, A.M. Menzies, A.M. Nagrial, L.E. Haydu, A.L. Hamilton, G.J. Mann, T.M. Hughes, J.F. Thompson, R.A. Scolyer, and R.F. Kefford Prognostic and clinicopathologic associations of oncogenic BRAF in metastatic melanoma J Clin Oncol 29 2011 1239 1246
25. A.M. Menzies, L.E. Haydu, L. Visintin, M.S. Carlino, J.R. Howle, J.F. Thompson, R.F. Kefford, R.A. Scolyer, and G.V. Long Distinguishing clinicopathologic features of patients with V600E and V600K BRAF-mutant metastatic melanoma Clin Cancer Res 18 2012 3242 3249
26. H. Yang, B. Higgins, K. Kolinsky, K. Packman, Z. Go, R. Iyer, S. Kolis, S. Zhao, R. Lee, J.F. Grippo, K. Schostack, M.E. Simcox, D. Heimbrook, G. Bollag, and F. Su RG7204 (PLX4032), a selective BRAFV600E inhibitor, displays potent antitumor activity in preclinical melanoma models Cancer Res 70 2010 5518 5527