ArticleNature biotechnology2013
Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing.
Article in Nature biotechnology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02628379 (A Prospective Observational Trial Evaluating Outcomes of FoundationOne - Directed Matched Targeted Therapy in Patients With Cancer of Unknown Primary), which is not on this map. Cited by 1,318 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
A Prospective Observational Trial Evaluating Outcomes of FoundationOne - Directed Matched Targeted Therapy in Patients With Cancer of Unknown Primary (CUP)
Who cites it
1,318 citing papers in PubMed, 1 synthesis or guideline pooled it, 2,153 citations in OpenAlex.
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- LRP1b Loss Predicts Sensitivity to Immunotherapy in Patients with NSCLC: An Analysis of the Phase III CheckMate-026 Randomized Trial.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Trial
- Ligand-activated EGFR/MAPK signaling but not PI3K, are key resistance mechanisms to EGFR-therapy in colorectal cancer.Nature communications · 2025Trial
- Buparlisib and Paclitaxel in Patients with Head and Neck Squamous Cell Carcinoma: Immunogenomic Biomarkers of Efficacy from the BERIL-1 Study.Targeted oncology · 2025Trial
- Diagnostic performance of droplet digital PCR for KRAS mutation analysis in pancreatic cancer cytology specimens.Journal of gastroenterology · 2026Article
- Genomic and immune profiling characterizes immune heterogeneity and a TIGIT-associated subtype in intrahepatic cholangiocarcinoma.Hepatology communications · 2026Article
- Determining the Causal Effect of Neurotrophic Tropomyosin Receptor Kinase Gene Fusions on Survival Prognosis for Adult Patients With Advanced Cancers.JCO precision oncology · 2026Article
- Genomic Medicine Sweden: Advancing precision medicine at the national level.Journal of internal medicine · 2026Review
- Comprehensive Genomic Profiling Beyond Driver Testing in Non-Squamous Non-Small Cell Lung Cancer With Known Drivers.Cancer science · 2026Article
- CYLD Mutations, PD-L1 and HPV; A Pan-Cancer Landscape Analysis.Research square · 2026Article
- Prevalence and complementary distribution of FGFR3 alterations and ERBB2 amplification in metastatic urothelial carcinoma: a nationwide registry analysis.International journal of clinical oncology · 2026Article
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- SPEN inactivation drives resistance to androgen receptor pathway inhibitors in metastatic prostate cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026Article
- Genomic landscape and therapeutic implications of Anaplastic Lymphoma Kinase fusion-positive colorectal cancer.The oncologist · 2026Article
- Pathological Pathways of Olfactory Neuroblastoma: From Molecular Mechanisms to Targeted Therapy: A Narrative Review.Cancers · 2026Review
- Article
- Performance and Clinical Benefit of Comprehensive Genomic Profiling of GI Tumors in a Comprehensive Cancer Center.JCO precision oncology · 2026Article
- Article
1,258 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
45 authors at 8 institutions in 2 countries.
Funding
Abstract
As more clinically relevant cancer genes are identified, comprehensive diagnostic approaches are needed to match patients to therapies, raising the challenge of optimization and analytical validation of assays that interrogate millions of bases of cancer genomes altered by multiple mechanisms. Here we describe a test based on massively parallel DNA sequencing to characterize base substitutions, short insertions and deletions (indels), copy number alterations and selected fusions across 287 cancer-related genes from routine formalin-fixed and paraffin-embedded (FFPE) clinical specimens. We implemented a practical validation strategy with reference samples of pooled cell lines that model key determinants of accuracy, including mutant allele frequency, indel length and amplitude of copy change. Test sensitivity achieved was 95-99% across alteration types, with high specificity (positive predictive value >99%). We confirmed accuracy using 249 FFPE cancer specimens characterized by established assays. Application of the test to 2,221 clinical cases revealed clinically actionable alterations in 76% of tumors, three times the number of actionable alterations detected by current diagnostic tests.
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Registered trials
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.