ArticleAmerican journal of clinical pathology2014
Clinical validation of KRAS, BRAF, and EGFR mutation detection using next-generation sequencing.
Article in American journal of clinical pathology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
80 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Pooled it
- Guideline
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- Pre-analytical optimization of cell-free DNA and extracellular vesicle-derived DNA for mutation detection in liquid biopsies.Molecular oncology · 2026Article
- Review
- Impact of DNA methylation on the recurrence risk of stage I non-small cell lung cancer with EGFR mutations.Clinical epigenetics · 2025Article
- Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti.Human mutation · 2025Article
- The Next Chapter in Cancer Diagnostics: Advances in HPV-Positive Head and Neck Cancer.Biomolecules · 2024Review
- Article
- TERTmonitor-qPCR Detection ofGenes · 2023Article
- Detection of mosaic variants using genome sequencing in a large pediatric cohort.American journal of medical genetics. Part A · 2023Article
- Review
- Optimizing Insertion and Deletion Detection Using Next-Generation Sequencing in the Clinical Laboratory.The Journal of molecular diagnostics : JMD · 2022Article
- Targeting KRAS in PDAC: A New Way to Cure It?Cancers · 2022Review
- Update on Molecular Diagnosis in Extranodal NK/T-Cell Lymphoma and Its Role in the Era of Personalized Medicine.Diagnostics (Basel, Switzerland) · 2022Review
- Predictive Biomarkers for a Personalized Approach in Resectable Pancreatic Cancer.Frontiers in surgery · 2022Review
- Toward best practice in cancer mutation detection with whole-genome and whole-exome sequencing.Nature biotechnology · 2021Article
- A Nationwide Study on the Impact of Routine Testing forCancers · 2021Article
- MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations.BMC medical genomics · 2021Article
- Allele-Specific PCR forDiagnostics (Basel, Switzerland) · 2020Article
20 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
13 authors.
Funding
Abstract
objectivesTo validate next-generation sequencing (NGS) technology for clinical diagnosis and to determine appropriate read depth.
methodsWe validated the KRAS, BRAF, and EGFR genes within the Ion AmpliSeq Cancer Hotspot Panel using the Ion Torrent Personal Genome Machine (Life Technologies, Carlsbad, CA).
resultsWe developed a statistical model to determine the read depth needed for a given percent tumor cellularity and number of functional genomes. Bottlenecking can result from too few input genomes. By using 16 formalin-fixed, paraffin-embedded (FFPE) cancer-free specimens and 118 cancer specimens with known mutation status, we validated the six traditional analytic performance characteristics recommended by the Next-Generation Sequencing: Standardization of Clinical Testing Working Group. Baseline noise is consistent with spontaneous and FFPE-induced C:G→T:A deamination mutations.
conclusionsRedundant bioinformatic pipelines are essential, since a single analysis pipeline gave false-negative and false-positive results. NGS is sufficiently robust for the clinical detection of gene mutations, with attention to potential artifacts.
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