ArticleMolecular diagnosis & therapy2020
Use of an Integrated Pan-Cancer Oncology Enrichment Next-Generation Sequencing Assay to Measure Tumour Mutational Burden and Detect Clinically Actionable Variants.
Article in Molecular diagnosis & therapy, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 66 citations in OpenAlex.
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- Genomic Landscape of GNAQ and GNA11 Mutations in Metastatic Solid Tumors: A Real-World Data Analysis.JCO precision oncology · 2026Article
- Integrated Liquid Biopsy and Tumor Tissue Genomic Profiling of Appendiceal Cancer: cfDNA Burden, Mutation Landscapes, and Clinical Outcomes.Annals of surgical oncology · 2026Article
- Supplementary biomarker testing in molecular tumor boards increases actionable therapy recommendations: a prospective real-world study of 658 patients.BMC medicine · 2026Article
- Histological and molecular characterization of endolymphatic sac tumor reveals key differences from its primary differential diagnosis, choroid plexus papilloma.Histology and histopathology · 2025Article
- Integrated proteomic and targeted Next Generation Sequencing reveal relevant heterogeneity in lower-grade meningioma and ANXA3 as a new target in NF2 mutated meningiomas.EBioMedicine · 2025Article
- Tumour-associated macrophage infiltration differs in meningioma genotypes, and is important in tumour dynamics.Journal of experimental & clinical cancer research : CR · 2025Article
- Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.Neoplasia (New York, N.Y.) · 2025Article
- Comparison of next‑generation sequencing quality metrics and concordance in the detection of cancer‑specific molecular alterations between formalin‑fixed paraffin‑embedded and fresh‑frozen samples in comprehensive genomic profiling with the Illumina® TruSight Oncology 500 assay.Experimental and therapeutic medicine · 2025Article
- A nationwide comprehensive genomic profiling and molecular tumor board platform for patients with advanced cancer.NPJ precision oncology · 2025Article
- MSH2, MSH6, MLH1, and PMS2 immunohistochemistry as highly sensitive screening method for DNA mismatch repair deficiency syndromes in pediatric high-grade glioma.Acta neuropathologica · 2025Article
- Performance assessment of computational tools to detect microsatellite instability.Briefings in bioinformatics · 2024Article
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- The future of collaborative precision oncology approaches in sub-Saharan Africa: learnings from around the globe.Frontiers in oncology · 2024Article
- A novel patient-derived meningioma spheroid model as a tool to study and treat epithelial-to-mesenchymal transition (EMT) in meningiomas.Acta neuropathologica communications · 2023Article
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- Comprehensive genomic profiling for oncological advancements by precision medicine.Medical oncology (Northwood, London, England) · 2023Review
- Systematic comparison of variant calling pipelines of target genome sequencing cross multiple next-generation sequencers.Frontiers in genetics · 2023Article
- Article
Corrections and comments
- Erratum issued
Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
introductionThe identification of tumour mutational burden (TMB) as a biomarker of response to programmed cell death protein 1 (PD-1) immunotherapy has necessitated the development of genomic assays to measure this. We carried out comprehensive molecular profiling of cancers using the Illumina TruSight Oncology 500 (TSO500) panel and compared these to whole-genome sequencing (WGS).
methodsCancer samples derived from formalin-fixed material were profiled on the TSO500 panel, sequenced on an Illumina NextSeq 500 instrument and processed through the TSO500 Docker pipeline. Either FASTQ files (PierianDx) or vcf files (OncoKDM) were processed to understand clinical actionability.
resultsIn total, 108 samples (a mixture of colorectal, lung, oesophageal and control samples) were processed via the DNA panel. There was good correlation between TMB, single-nucleotide variants (SNVs), indels and copy-number variations as predicted by TSO500 and WGS (R
conclusionsThe TSO500 assay accurately measures TMB, microsatellite instability, SNVs, indels, copy-number/structural variation and gene fusions when compared to WGS and orthogonal technologies. Coupled with a clinical annotation pipeline, this provides a powerful methodology for identification of clinically actionable variants.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.