ArticleExperimental and molecular pathology2015
Development and validation of the JAX Cancer Treatment Profile™ for detection of clinically actionable mutations in solid tumors.
Article in Experimental and molecular pathology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22 citing papers in PubMed, 34 citations in OpenAlex.
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- High prevalence of TP53 mutations is associated with poor survival and an EMT signature in gliosarcoma patients.Experimental & molecular medicine · 2017Article
- Integrated analysis of gene expression and copy number identified potential cancer driver genes with amplification-dependent overexpression in 1,454 solid tumors.Scientific reports · 2017Article
- Mutations in TP53, PIK3CA, PTEN and other genes in EGFR mutated lung cancers: Correlation with clinical outcomes.Lung cancer (Amsterdam, Netherlands) · 2017Article
- Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification.International journal of molecular sciences · 2017Review
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- Molecular Genetic Analysis of Ovarian Brenner Tumors and Associated Mucinous Epithelial Neoplasms: High Variant Concordance and Identification of Mutually Exclusive RAS Driver Mutations and MYC Amplification.The American journal of pathology · 2016Article
- The clinical trial landscape in oncology and connectivity of somatic mutational profiles to targeted therapies.Human genomics · 2016Article
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- Genomic alterations in BCL2L1 and DLC1 contribute to drug sensitivity in gastric cancer.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- The Disease Ontology: fostering interoperability between biological and clinical human disease-related data.Mammalian genome : official journal of the International Mammalian Genome Society · 2015Article
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Authors and funding
17 authors at 1 institution in 1 country.
Funding
Abstract
backgroundThe continued development of targeted therapeutics for cancer treatment has required the concomitant development of more expansive methods for the molecular profiling of the patient's tumor. We describe the validation of the JAX Cancer Treatment Profile™ (JAX-CTP™), a next generation sequencing (NGS)-based molecular diagnostic assay that detects actionable mutations in solid tumors to inform the selection of targeted therapeutics for cancer treatment.
methodsNGS libraries are generated from DNA extracted from formalin fixed paraffin embedded tumors. Using hybrid capture, the genes of interest are enriched and sequenced on the Illumina HiSeq 2500 or MiSeq sequencers followed by variant detection and functional and clinical annotation for the generation of a clinical report.
resultsThe JAX-CTP™ detects actionable variants, in the form of single nucleotide variations and small insertions and deletions (≤50 bp) in 190 genes in specimens with a neoplastic cell content of ≥10%. The JAX-CTP™ is also validated for the detection of clinically actionable gene amplifications.
conclusionsThere is a lack of consensus in the molecular diagnostics field on the best method for the validation of NGS-based assays in oncology, thus the importance of communicating methods, as contained in this report. The growing number of targeted therapeutics and the complexity of the tumor genome necessitate continued development and refinement of advanced assays for tumor profiling to enable precision cancer treatment.
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