ArticleMolecular diagnosis & therapy2017
Significant Improvement in Detecting BRAF, KRAS, and EGFR Mutations Using Next-Generation Sequencing as Compared with FDA-Cleared Kits.
Article in Molecular diagnosis & therapy, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 28 citations in OpenAlex.
- Diagnostic utility of targeted next-generation sequencing in indeterminate pancreaticobiliary cytology and small biopsy specimens: a prospective cohort study.Virchows Archiv : an international journal of pathology · 2026Article
- Recent advances in head and neck surgical oncology.Journal of surgical oncology · 2024Review
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- RareRespirology case reports · 2023Article
- Overview on Therapeutic Options in Uncommon EGFR Mutant Non-Small Cell Lung Cancer (NSCLC): New Lights for an Unmet Medical Need.International journal of molecular sciences · 2023Review
- EGFR p.V774M/p.L833V compound mutations in lung adenocarcinoma responded well to almonertinib: a case report.Frontiers in oncology · 2023Article
- Durable response to afatinib rechallenge in a long-term survivor of non-small cell lung cancer harboring EGFR L858R and L747V mutations.Thoracic cancer · 2022Article
- [Current Advance in Targeted Treatment and Immunotherapy for BRAF-mutant Advanced Non-small Cell Lung Cancer].Zhongguo fei ai za zhi = Chinese journal of lung cancer · 2021Review
- Article
- Tissue and Plasma EGFR Mutation Analysis in the FLAURA Trial: Osimertinib versus Comparator EGFR Tyrosine Kinase Inhibitor as First-Line Treatment in Patients with EGFR-Mutated Advanced Non-Small Cell Lung Cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2019Article
- Comparing Artificial Intelligence Platforms for Histopathologic Cancer Diagnosis.Federal practitioner : for the health care professionals of the VA, DoD, and PHS · 2019Article
- Oncogenic KRAS hotspot mutations are rare in IDH-mutant gliomas.Brain pathology (Zurich, Switzerland) · 2019Article
- Role of miR-520b in non-small cell lung cancer.Experimental and therapeutic medicine · 2018Article
- Liquid Biopsy to Identify Actionable Genomic Alterations.American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting · 2018Review
- Next-generation sequencing: recent applications to the analysis of colorectal cancer.Journal of translational medicine · 2017Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionWe compared mutations detected in EGFR, KRAS, and BRAF genes using next-generation sequencing (NGS) and confirmed by Sanger sequencing with mutations that could be detected by FDA-cleared testing kits.
methodsParaffin-embedded tissue from 822 patients was tested for mutations in EGFR, KRAS, and BRAF by NGS. Sanger sequencing of hot spots was used with locked nucleic acid to increase sensitivity for specific hot-spot mutations. This included 442 (54%) lung cancers, 168 (20%) colorectal cancers, 29 (4%) brain tumors, 33 (4%) melanomas, 14 (2%) thyroid cancers, and 16% others (pancreas, head and neck, and cancer of unknown origin). Results were compared with the approved list of detectable mutations in FDA kits for EGFR, KRAS, and BRAF.
resultsOf the 101 patients with EGFR abnormalities as detected by NGS, only 58 (57%) were detectable by cobas v2 and only 35 (35%) by therascreen. Therefore, 42 and 65%, respectively, more mutations were detected by NGS, including two patients with EGFR amplification. Of the 117 patients with BRAF mutation detected by NGS, 62 (53%) mutations were within codon 600, detectable by commercial kits, but 55 (47%) of the mutations were outside codon V600, detected by NGS only. Of the 321 patients with mutations in KRAS detected by NGS, 284 (88.5%) had mutations detectable by therascreen and 300 (93.5%) had mutations detectable by cobas. Therefore, 11.5 and 6.5% additional KRAS mutations were detected by NGS, respectively.
conclusionNGS provides significantly more comprehensive testing for mutations as compared with FDA-cleared kits currently available commercially.
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