Study: JGAS00000000164




TitleComprehensive assay for the molecular profiling of cancer by target enrichment from formalin-fixed paraffin-embedded specimens
AbstractTumor molecular profiling is becoming a standard of care for patients with cancer, but the optimal platform for cancer sequencing remains undetermined. We established a comprehensive assay, the Todai OncoPanel (TOP), which consists of DNA and RNA hybridization capture-based next-generation sequencing panels. A novel method for target enrichment, named the junction capture method, was developed for the RNA panel to accurately and cost-effectively detect 365 fusion genes as well as aberrantly spliced transcripts. The TOP RNA panel can also measure the expression profiles of an additional 109 genes. The TOP DNA panel was developed to detect single nucleotide variants and insertions/deletions for 464 genes, to calculate tumor mutation burden and microsatellite instability status, and to infer chromosomal copy number. Clinically relevant somatic mutations were identified in 32.2% (59/183) of patients by prospective TOP testing, signifying the clinical utility of TOP for providing personalized medicine to cancer patients.
Study Type
Study TypeOther
New Study TypeTarget sequencing


PubMed ID30737998
Publication Statuspublished

Study Attribute

NBDC Numberhum0157
Registration date2019-01-28
Submitting organizationThe University of Tokyo
Principal InvestigatorKohei Miyazono
Molecular Data TypeTarget Sequencing
PlatformNextSeq 500
Primary PhenotypeCancer
Accession Title Dataset type Data objects Policy
JGAD00000000242 Fastq of Todai OncoPanel 801 JGAP00000000001