title: Validation of an Ion Torrent Sequencing Platform for the Detection of Gene Mutations in Biopsy Specimens from Patients with Non-Small-Cell Lung Cancer.
abstract: BACKGROUND
  Treatment for patients with advanced non-small cell lung cancer (NSCLC) is often determined by the presence of biomarkers that predict the response to agents targeting specific molecular pathways. Demands for multiplex analysis of the genes involved in the pathogenesis of NSCLC are increasing.
  
  
  METHODS
  We validated the Ion Torrent Personal Genome Machine (PGM) system using the Ion AmpliSeq Cancer Hotspot Panel and compared the results with those obtained using the gold standard methods, conventional PCR and Sanger sequencing. The cycleave PCR method was used to verify the results.
  
  
  CONCLUSIONS
  The Ion Torrent PGM resulted in a similar level of accuracy in identifying multiple genetic mutations in parallel, compared with conventional PCR and Sanger sequencing; however, the Ion Torrent PGM was superior to the other sequencing methods in terms of increased ease of use, even when taking into account the small amount of DNA that was obtained from formalin-fixed paraffin embedded (FFPE) biopsy specimens.
authors.affiliation: Division of Integrated Oncology, Institute of Biomedical Research and Innovation, Chuo-ku, Kobe, 650-0047, Japan.
authors.forename: Shiro
authors.initials: S
authors.lastname: Fujita
authors.affiliation: Division of Integrated Oncology, Institute of Biomedical Research and Innovation, Chuo-ku, Kobe, 650-0047, Japan.
authors.forename: Katsuhiro
authors.initials: K
authors.lastname: Masago
authors.affiliation: Division of Integrated Oncology, Institute of Biomedical Research and Innovation, Chuo-ku, Kobe, 650-0047, Japan.
authors.forename: Jumpei
authors.initials: J
authors.lastname: Takeshita
authors.affiliation: Division of Integrated Oncology, Institute of Biomedical Research and Innovation, Chuo-ku, Kobe, 650-0047, Japan.
authors.forename: Chiyuki
authors.initials: C
authors.lastname: Okuda
authors.affiliation: Division of Integrated Oncology, Institute of Biomedical Research and Innovation, Chuo-ku, Kobe, 650-0047, Japan.
authors.forename: Kyoko
authors.initials: K
authors.lastname: Otsuka
authors.affiliation: Division of Integrated Oncology, Institute of Biomedical Research and Innovation, Chuo-ku, Kobe, 650-0047, Japan.
authors.forename: Akito
authors.initials: A
authors.lastname: Hata
authors.affiliation: Division of Integrated Oncology, Institute of Biomedical Research and Innovation, Chuo-ku, Kobe, 650-0047, Japan.
authors.forename: Reiko
authors.initials: R
authors.lastname: Kaji
authors.affiliation: Division of Integrated Oncology, Institute of Biomedical Research and Innovation, Chuo-ku, Kobe, 650-0047, Japan.
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Katakami
authors.affiliation: Division of Integrated Oncology, Institute of Biomedical Research and Innovation, Chuo-ku, Kobe, 650-0047, Japan.
authors.forename: Yukio
authors.initials: Y
authors.lastname: Hirata
mesh_terms: D001483:Base Sequence; D014408:Biomarkers, Tumor / Q000235:genetics; D001706:Biopsy; D002289:Carcinoma, Non-Small-Cell Lung / Q000235:genetics* / Q000628:therapy; D004247:DNA / Q000235:genetics; D066246:ErbB Receptors / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics* / Q000628:therapy; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D016283:Proto-Oncogene Proteins p21(ras) / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: D014408:Biomarkers, Tumor; D005819:Genetic Markers; C117307:KRAS protein, human; D004247:DNA; C512478:EGFR protein, human; D066246:ErbB Receptors; D016283:Proto-Oncogene Proteins p21(ras)