Nov 8, 2014

Ion Torrent next-generation sequencing for routine identification of clinically relevant mutations in colorectal cancer patients

Journal of Clinical Pathology
Umberto MalapelleGiancarlo Troncone

Abstract

To evaluate the accuracy, consumable cost and time around testing (TAT) of a next-generation sequencing (NGS) assay, the Ion Torrent AmpliSeq Colon and Lung Cancer Panel, as an alternative to Sanger sequencing to genotype KRAS, NRAS and BRAF in colorectal cancer patients. The Ion Torrent panel was first verified on cell lines and on control samples and then prospectively applied to routine specimens (n=114), with Sanger sequencing as reference. The Ion Torrent panel detected mutant alleles at the 5% level on cell lines and correctly classified all control tissues. The Ion Torrent assay was successfully carried out on most (95.6%) routine diagnostic samples. Of these, 12 (11%) harboured mutations in the BRAF gene and 47 (43%) in either of the two RAS genes, in two cases with a low abundance of RAS mutant allele which was missed by Sanger sequencing. The mean TAT, from sample receipt to reporting, was 10.4 (Sanger) and 13.0 (Ion Torrent) working days. The consumable cost for genotyping KRAS, NRAS and BRAF was €196 (Sanger) and €187 (Ion Torrent). Ion Torrent AmpliSeq Colon and Lung Cancer Panel sequencing is as robust as Sanger sequencing in routine diagnostics to select patients for anti-epidermal growth factor receptor (EGFR) t...Continue Reading

  • References21
  • Citations44

References

  • References21
  • Citations44

Citations

Mentioned in this Paper

Braf Gene Analysis
NRAS gene
N-ras Genes
BRAF protein, human
Epidermal Growth Factor Receptor Activity
Tumor Markers
Colorectal Neoplasms
Carcinoma of Lung
P21 N-Ras Protein
BRAF GENE Analysis V600E Variant

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