Frequency and spectrum of BRAF mutations in a retrospective, single-institution study of 1112 cases of melanoma

Journal of Molecular Diagnostics

Volumn 15, Issue 2, 2013, Pages 220-226

  Greaves, Wesley O ^a   Verma, Shalini ^a   Patel, Keyur P ^a   Davies, Michael A ^a   Barkoh, Bedia A ^a   Galbincea, John M ^a   Yao, Hui ^a   Lazar, Alexander J ^a   Aldape, Kenneth D ^a   Medeiros, L Jeffrey ^a   Luthra, Rajyalakshmi ^a  

^a UNIVERSITY OF TEXAS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE;

ARTICLE; CANCER DIAGNOSIS; COHORT ANALYSIS; CONTROLLED STUDY; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MEDICAL RECORD REVIEW; MELANOMA; METASTATIC MELANOMA; PYROSEQUENCING; RETROSPECTIVE STUDY; SKIN BIOPSY; SKIN CANCER; UVEA MELANOMA;

BASE SEQUENCE; EXONS; HUMANS; MELANOMA; MUTATION; MUTATION RATE; PROTO-ONCOGENE PROTEINS B-RAF; RETROSPECTIVE STUDIES;

EID: 84874518093     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2012.10.002     Document Type: Article

References (23)

1. 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
2. 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
3. K.T. Flaherty, I. Puzanov, K.B. Kim, A. Ribas, G.A. McArthur, J.A. Sosman, P.J. O'Dwyer, R.J. Lee, J.F. Grippo, K. Nolop, and P.B. Chapman Inhibition of mutated, activated BRAF in metastatic melanoma N Engl J Med 363 2010 809 819
4. A. Ribas, K.B. Kim, L.M. Schuchter, R. Gonzalez, A.C. Pavlick, J.S. Weber, G.A. McArthur, T.E. Hutson, K.T. Flaherty, S.J. Moschos, D.P. Lawrence, P. Hersey, R.F. Kefford, B. Chmielowski, I. Puzanov, J. Li, K.B. Nolop, R.J. Lee, A.K. Joe, and J.A. Sosman BRIM-2: An open-label, multicenter phase II study of vemurafenib in previously treated patients with BRAF V600E mutation-positive metastatic melanoma (abstract) J Clin Oncol 29 15 Suppl 2011 8509
5. 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, G.A. McArthur collaborators Improved survival with vemurafenib in melanoma with BRAF V600E mutation N Engl J Med 364 2011 2507 2516
6. E.W. Joseph, C.A. Pratilas, P.I. Poulikakos, M. Tadi, W. Wang, B.S. Taylor, E. Halilovic, Y. Persaud, F. Xing, A. Viale, J. Tsai, P.B. Chapman, G. Bollag, D.B. Solit, and N. Rosen The RAF inhibitor PLX4032 inhibits ERK signaling and tumor cell proliferation in a V600E BRAF-selective manner Proc Natl Acad Sci USA 107 2010 14903 14908
7. H. Halait, K. Demartin, S. Shah, S. Soviero, R. Langland, S. Cheng, G. Hillman, L. Wu, and H.J. Lawrence Analytical performance of a real-time PCR-based assay for V600 mutations in the BRAF gene, used as the companion diagnostic test for the novel BRAF inhibitor vemurafenib in metastatic melanoma Diagn Mol Pathol 21 2012 1 8
8. 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
9. 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
10. J.A. Jakob, R.L. Bassett Jr., C.S. Ng, J.L. Curry, R.W. Joseph, G.C. Alvarado, M.L. Rohlfs, J. Richard, J.E. Gershenwald, K.B. Kim, A.J. Lazar, P. Hwu, and M.A. Davies NRAS mutation status is an independent prognostic factor in metastatic melanoma Cancer 118 2012 4014 4023
11. S. Verma, W.O. Greaves, F. Ravandi, N. Reddy, C.E. Bueso-Ramos, S. O'Brien, D.A. Thomas, H. Kantarjian, L.J. Medeiros, R. Luthra, and K.P. Patel Rapid detection and quantitation of BRAF mutations in hairy cell leukemia using a sensitive pyrosequencing assay Am J Clin Pathol 138 2012 153 156
12. N. Ibrahim, and F.G. Haluska Molecular pathogenesis of cutaneous melanocytic neoplasms Annu Rev Pathol 4 2009 551 579
13. A. Demunter, M. Stas, H. Degreef, C. De Wolf-Peeters, and J.J. van den Oord Analysis of N- and K-ras mutations in the distinctive tumor progression phases of melanoma J Invest Dermatol 117 2001 1483 1489
14. H. Tsao, V. Goel, H. Wu, G. Yang, and F.G. Haluska Genetic interaction between NRAS and BRAF mutations and PTEN/MMAC1 inactivation in melanoma J Invest Dermatol 122 2004 337 341
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.H. Lee, J.W. Choi, and Y.S. Kim Frequencies of BRAF and NRAS mutations are different in histological types and sites of origin of cutaneous melanoma: a meta-analysis Br J Dermatol 164 2011 776 784
17. A. Ribas, and K.T. Flaherty BRAF targeted therapy changes the treatment paradigm in melanoma Nat Rev Clin Oncol 8 2011 426 433
18. J.A. Curtin, K. Busam, D. Pinkel, and B.C. Bastian Somatic activation of KIT in distinct subtypes of melanoma J Clin Oncol 24 2006 4340 4346
19. J.L. Maldonado, J. Fridlyand, H. Patel, A.N. Jain, K. Busam, T. Kageshita, T. Ono, D.G. Albertson, D. Pinkel, and B.C. Bastian Determinants of BRAF mutations in primary melanomas J Natl Cancer Inst 95 2003 1878 1890
20. M. Shinozaki, A. Fujimoto, D.L. Morton, and D.S. Hoon Incidence of BRAF oncogene mutation and clinical relevance for primary cutaneous melanomas Clin Cancer Res 10 2004 1753 1757
21. 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
22. R. Hay, E. MacRae, D. Barber, M. Khalil, and D.J. Demetrick BRAF mutations in melanocytic lesions and papillary thyroid carcinoma samples identified using melting curve analysis of polymerase chain reaction products Arch Pathol Lab Med 131 2007 1361 1367
23. C. Willmore-Payne, J.A. Holden, S. Tripp, and L.J. Layfield Human malignant melanoma: detection of BRAF- and c-kit-activating mutations by high-resolution amplicon melting analysis Hum Pathol 36 2005 486 493