Profiling the cancer genome to optimize the management of solid tumors
Accurate detection of molecular signatures associated with solid tumors is difficult. It requires multiple cytogenetic and molecular assays that can be costly and time-consuming.1 Increasingly gene fusions are described as important factors in the complex process of tumor development. It is estimated that fusions are present in 15% of all metastatic cancers.2 Furthermore, they are among the most successful targets for precision cancer medicine.3
SOPHiA GENETICS offers genomic applications that are expertly designed to accurately characterize the complex mutational landscape of the major solid tumors such as lung, colorectal, skin and brain cancers. SOPHiA Solid Tumor Solution™ and Solid Tumor Plus Solution™ bundle target enrichment kits with the analytical power of SOPHiA™ AI and full access to the SOPHiA DDM® platform. Customers using the Illumina TruSight™ Tumor 170 (TST170) kit, can now maximize the performance of their assay with TST170 powered by SOPHiA™.
Three solutions tailored to your needs
SOPHiA Solid Tumor Solution (STS) covers 42 relevant genes associated with most common solid tumors. SOPHiA Solid Tumor Plus Solution (STS+) extends the characterization of the mutational landscape by detecting the RNA transcripts of 137 gene fusions. TST170 powered by SOPHiA is a fully integrated (FASTQ-to-Report) bioinformatics workflow that works in tandem with the TST170 panel in pan-cancer genomic profiling. The TST170 workflow offers enhanced analytical performance and accelerated variant interpretation.
Benefits of the solutions
Detection and characterization of multiple types of genomic alterations in one sequencing run:
- SNVs and Indels in all the genes of the panel
- Microsatellite instability status associated with colorectal cancer
- Gene amplification events over 24 genes:
ALK, BRAF, CDK4, CDKN2A, EGFR, ERBB2, FBXW7, FGFR1, FGFR2, FGFR3, HRAS, KIT, KRAS, MET, MYOD1, NRAS, PDGFRA, PIK3CA, RAF1, ROS1, RET, SF3B1, TERT and TP53
- RNA fusions (exclusively for STS+) such as:
ALK, BRAF, EGFRvIII, FGFR1, FGFR2, FGFR3, MET exon skipping, NTRK1, NTKR3, PPARG, RET and ROS1
Maximized throughput improving productivity by reducing time and reagent use
Solutions compatible with market-leading sequencing platforms
Advanced analytical performance
1: Not All Next Generation Sequencing Diagnostics are Created Equal: Understanding the Nuances of Solid Tumor Assay Design for Somatic Mutation Detection. Phillip N. Gray,*?Charles L.M. Dunlop et al. Cancers (Basel). 2015 Sep; 7(3): 1313–1332.
2: Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients. Zehir, A., Benayed, R., Shah, R. H., et al. Nat Med.?2017 Jun;23(6):703-713. doi:?10.1038/nm.4333. Epub 2017 May 8.
3: Fusions in solid tumours: diagnostic strategies, targeted therapy, and acquired resistance. Schram A. M., Chang, M. T., Jonsson P. et al. Nat Rev Clin Oncol.?2017 Dec;14(12):735-748. doi: 10.1038/nrclinonc.2017.127. Epub 2017 Aug 31.