Validation of Next Generation Sequencing Technologies in Comparison to Current Diagnostic Gold Standards for BRAF, EGFR and KRAS Mutational Analysis

PLoS ONE

Volumn 8, Issue 7, 2013, Pages

  McCourt, Clare M ^a   McArt, Darragh G ^a   Mills, Ken ^a   Catherwood, Mark A ^a,b   Maxwell, Perry ^a,b   Waugh, David J ^a   Hamilton, Peter ^a   O'Sullivan, Joe M ^a,b   Salto Tellez, Manuel ^a,b,c  

^a QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^b BELFAST CITY HOSPITAL   (United Kingdom)

^c NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; EPIDERMAL GROWTH FACTOR RECEPTOR; K RAS PROTEIN;

ARTICLE; BIOINFORMATICS; BRAF GENE; COLON CARCINOMA; COMPUTER PROGRAM; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; EGFR GENE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; GOLD STANDARD; HUMAN; HUMAN TISSUE; INTERMETHOD COMPARISON; KRAS GENE; LUNG ADENOCARCINOMA; MELANOMA; MUTATIONAL ANALYSIS; ONCOGENE; POLYMERASE CHAIN REACTION; QUANTITATIVE ANALYSIS; RELIABILITY; SEQUENCE ANALYSIS; VALIDATION STUDY;

DNA MUTATIONAL ANALYSIS; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; NEOPLASMS; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS B-RAF; RAS PROTEINS; RECEPTOR, EPIDERMAL GROWTH FACTOR; REFERENCE STANDARDS; REPRODUCIBILITY OF RESULTS;

EID: 84880799275     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0069604     Document Type: Article

References (15)

1. Sanger F, Nicklen S, Coulson AR, (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A 74: 5463-5467.
2. Martinez DA, Nelson MA, (2010) The next generation becomes the now generation. PLoS Genet 8 6(4): e1000906.
3. Meldrum C, Doyle MA, Tothill RW, (2011) Next-generation sequencing for cancer diagnostics: A practical perspective. Clin Biochem Rev 32: 177-195.
4. Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, et al. (2009) Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A 106: 19096-19101 10.1073/pnas.0910672106.
5. Chapman PB, Hauschild A, Robert C, Haanen JB, Ascierto P, et al. (2011) Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med 364: 2507-2516 10.1056/NEJMoa1103782.
6. Ascierto PA, Kirkwood JM, Grob JJ, Simeone E, Grimaldi AM, et al. (2012) The role of BRAF V600 mutation in melanoma. J Transl Med 10: 85 10.1186/1479-5876-10-85.
7. Lynch TJ, Bell DW, Sordella R, Gurubhagavatula S, Okimoto RA, et al. (2004) Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N Engl J Med 350: 2129-2139 10.1056/NEJMoa040938.
8. Sharma SV, Bell DW, Settleman J, Haber DA, (2007) Epidermal growth factor receptor mutations in lung cancer. Nat Rev Cancer 7: 169-181 10.1038/nrc2088.
9. Lievre A, Bachet JB, Le Corre D, Boige V, Landi B, et al. (2006) KRAS mutation status is predictive of response to cetuximab therapy in colorectal cancer. Cancer Res 66: 3992-3995 10.1158/0008-5472.CAN-06-0191.
10. Sikkema-Raddatz B, Johansson LF, de Boer EN, Almomani R, Boven LG,et al. Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics. Hum Mutat. 2013 Apr 8. doi: 10.1002/humu.22332. [Epub ahead of print].
11. Conde E, Angulo B, Tang M, Morente M, Torres-Lanzas J, et al. (2006) Molecular context of the EGFR mutations: Evidence for the activation of mTOR/S6K signaling. Clin Cancer Res 12: 710-717 10.1158/1078-0432.CCR-05-1362.
12. Schmid K, Oehl N, Wrba F, Pirker R, Pirker C, et al. (2009) EGFR/KRAS/BRAF mutations in primary lung adenocarcinomas and corresponding locoregional lymph node metastases. Clin Cancer Res 15: 4554-4560 10.1158/1078-0432.CCR-09-0089.
13. Metzger B, Chambeau L, Begon DY, Faber C, Kayser J, et al. (2011) The human epidermal growth factor receptor (EGFR) gene in european patients with advanced colorectal cancer harbors infrequent mutations in its tyrosine kinase domain. BMC Med Genet 12: 144 10.1186/1471-2350-12-144.
14. Loman NJ, Misra RV, Dallman TJ, Constantinidou C, Gharbia SE, et al. (2012) Performance comparison of benchtop high-throughput sequencing platforms. Nat Biotechnol 30: 434-439 10.1038/nbt.2198.
15. Pao W, Wang TY, Riely GJ, Miller VA, Pan Q, et al. (2005) KRAS mutations and primary resistance of lung adenocarcinomas to gefitinib or erlotinib. PLoS Med 2: e17 10.1371/journal.pmed.0020017.