Target:
In January 2022, our institution initiated a comprehensive cancer genome profiling program across ten cancer types, employing the TruSight Oncology 500 Assay by Illumina®. This assay examines DNA and RNA, detecting Single-Nucleotide Variants (SNVs), Insertion-Deletions (InDels) in 523 genes, known and novel fusions, splicing variants in 55 genes, Copy Number Alterations (CNVs), Mutational Tumor Burden (MTB), and Microsatellite Instability (MSI). To comply with the European IVD Directive 98/79/EC, internal validation was conducted before implementing the test. An open-source bioinformatics pipeline was created for post-processing data, panel evaluation, and integration into a high-performance computing framework using container technology for scalability and reproducibility.
Analysis of 71 DNA and 64 RNA samples demonstrated strong agreement between the TruSight Oncology 500 assay and standard methods, with only minor limitations. This protocol is now suitable for routine patient screening.
DOI: 10.3390/cancers14246152