Validation of the Ion Torrent PGM sequencing for the prospective routine molecular diagnostic of colorectal cancer

Clinical Biochemistry

Volumn 48, Issue 13-14, 2015, Pages 908-910

  Belardinilli, Francesca ^a   Capalbo, Carlo ^a   Buffone, Amelia ^a   Petroni, Marialaura ^a   Colicchia, Valeria ^a   Ferraro, Sergio ^a   Zani, Massimo ^a   Nicolussi, Arianna ^b   D'Inzeo, Sonia ^b   Coppa, Anna ^b   Screpanti, Isabella ^a   Gulino, Alberto ^a   Giannini, Giuseppe ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Colorectal cancer; EGFR; Ion Torrent PGM; Next generation sequencing; RAS

Indexed keywords

RAS PROTEIN;

COLORECTAL NEOPLASMS; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN GENOME; MOLECULAR PATHOLOGY; MUTATION; PROCEDURES; REPRODUCIBILITY; VALIDATION STUDY;

COLORECTAL NEOPLASMS; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION; PATHOLOGY, MOLECULAR; RAS PROTEINS; REPRODUCIBILITY OF RESULTS;

EID: 84952982431     PISSN: 00099120     EISSN: 18732933     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2015.04.003     Document Type: Article

References (17)

1. Lievre A., Bachet J.B., Le Corre D., Boige V., Landi B., Emile J.F., et al. KRAS mutation status is predictive of response to cetuximab therapy in colorectal cancer. Cancer Res 2006, 66:3992-3995.
2. Bokemeyer C., Van Cutsem E., Rougier P., Ciardiello F., Heeger S., Schlichting M., et al. Addition of cetuximab to chemotherapy as first-line treatment for KRAS wild-type metastatic colorectal cancer: pooled analysis of the crystal and opus randomised clinical trials. Eur J Cancer 2012, 48:1466-1475.
3. De Roock W., Piessevaux H., De Schutter J., Janssens M., De Hertogh G., Personeni N., et al. KRAS wild-type state predicts survival and is associated to early radiological response in metastatic colorectal cancer treated with cetuximab. Ann Oncol 2008, 19:508-515.
4. 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. Nat Rev Clin Oncol 2009, 6:519-527.
5. Van Cutsem E., Kohne C.H., Lang I., Folprecht G., Nowacki M.P., Cascinu S., et al. Cetuximab plus irinotecan, fluorouracil, and leucovorin as first-line treatment for metastatic colorectal cancer: updated analysis of overall survival according to tumor KRAS and BRAF mutation status. J Clin Oncol 2011, 29:2011-2019.
6. Douillard J.Y., Oliner K.S., Siena S., Tabernero J., Burkes R., Barugel M., et al. Panitumumab-folfox4 treatment and RAS mutations in colorectal cancer. N Engl J Med 2013, 369:1023-1034.
7. Karnoub A.E., Weinberg R.A. RAS oncogenes: split personalities. Nat Rev Mol Cell Biol 2008, 9:517-531.
8. De Roock W., Claes B., Bernasconi D., De Schutter J., Biesmans B., Fountzilas G., et al. Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. Lancet Oncol 2010, 11:753-762.
9. Yuan Z.X., Wang X.Y., Qin Q.Y., Chen D.F., Zhong Q.H., Wang L., et al. The prognostic role of BRAF mutation in metastatic colorectal cancer receiving anti-EGFR monoclonal antibodies: a meta-analysis. PLoS One 2013, 8:e65995.
10. Loupakis F., Cremolini C., Masi G., Lonardi S., Zagonel V., Salvatore L., et al. Initial therapy with folfoxiri and bevacizumab for metastatic colorectal cancer. N Engl J Med 2014, 371:1609-1618.
11. Capalbo C., Marchetti P., Coppa A., Calogero A., Anastasi E., Buffone A., et al. Vemurafenib and panitumumab combination tailored therapy in BRAF-mutated metastatic colorectal cancer: a case report. Cancer Biol Ther 2014, 15:826-831.
12. Tsongalis G.J., Peterson J.D., de Abreu F.B., Tunkey C.D., Gallagher T.L., Strausbaugh L.D., et al. Routine use of the ion torrent ampliseq cancer hotspot panel for identification of clinically actionable somatic mutations. Clin Chem Lab Med 2014, 52:707-714.
13. Tsiatis A.C., Norris-Kirby A., Rich R.G., Hafez M.J., Gocke C.D., Eshleman J.R., et al. Comparison of Sanger sequencing, pyrosequencing, and melting curve analysis for the detection of KRAS mutations: diagnostic and clinical implications. J Mol Diagn 2010, 12:425-432.
14. Vaughn C.P., Zobell S.D., Furtado L.V., Baker C.L., Samowitz W.S. Frequency of KRAS, BRAF, and NRAS mutations in colorectal cancer. Genes Chromosomes Cancer 2011, 50:307-312.
15. Guinney J., Ferte C., Dry J., McEwen R., Manceau G., Kao K.J., et al. Modeling RAS phenotype in colorectal cancer uncovers novel molecular traits of RAS dependency and improves prediction of response to targeted agents in patients. Clin Cancer Res 2014, 20:265-272.
16. Janakiraman M., Vakiani E., Zeng Z., Pratilas C.A., Taylor B.S., Chitale D., et al. Genomic and biological characterization of exon 4 KRAS mutations in human cancer. Cancer Res 2010, 70:5901-5911.
17. Quail M.A., Smith M., Coupland P., Otto T.D., Harris S.R., Connor T.R., et al. A tale of three next generation sequencing platforms: comparison of Ion torrent, pacific biosciences and illumina MiSeq sequencers. BMC Genomics 2012, 13:341.