ArticleMolecular oncology2023
Frequency, underdiagnosis, and heterogeneity of epidermal growth factor receptor exon 20 insertion mutations using real-world genomic datasets.
Article in Molecular oncology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- Amivantamab Plus Chemotherapy in Japanese Patients With EGFR Exon 20 Insertions NSCLC.Cancer science · 2025Trial
- Analytical and Clinical Validation of the Oncomine Dx Express Test, an In Vitro Diagnostic-Labeled Assay, for Genomic Profiling of FFPE Tumor Samples.Molecular diagnosis & therapy · 2026Article
- EGFR exon 20-altered NSCLC in China: molecular heterogeneity and real-world outcomes with sunvozertinib.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Article
- Clinical utility of comprehensive genomic profiling in thoracic malignancies beyond conventional gene testing.International journal of clinical oncology · 2026Article
- New Treatment Strategies for Rare Genomic Alterations:Cancers · 2026Review
- Review
- Review
- Clinical outcomes and survival in patients with NSCLC and EGFR exon 20 mutations: evidence from real-world clinical practice in a retrospective study in Galicia.Frontiers in oncology · 2026Article
- Sunvozertinib: a Promising Oral EGFR Inhibitor Approved for NSCLC with EGFR Ex20ins Mutations.Investigational new drugs · 2025Review
- Current paradigm of EGFRMed (New York, N.Y.) · 2025Review
- Landscape and clinical implications of EGFR exon 20 insertions in non-small cell lung cancer patients.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2025Review
- A real‑world study of clinical characteristics, treatment sequence and outcomes of patients with non-small cell lung cancer and EGFR exon 20 insertion mutations.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2025Article
- The User's Guide to Amivantamab.Targeted oncology · 2025Review
- Sunvozertinib: shining light on lung cancer's exon 20 fight.Translational lung cancer research · 2025Article
- Genomic Landscape of Advanced Solid Tumors in Middle East and North Africa Using Circulating Tumor DNA in Routine Clinical Practice.Oncology · 2025Article
- New advances in the treatment of EGFR exon20ins mutant advanced NSCLC.American journal of cancer research · 2025Review
- Benefits of NGS in Advanced Lung Adenocarcinoma Vary by Populations and Timing of Examination.International journal of molecular sciences · 2024Article
- Current status and breakthroughs in treating advanced non-small cell lung cancer with EGFR exon 20 insertion mutations.Frontiers in immunology · 2024Review
- Case report: Single gene testing and comprehensive genomic profiling in non-small cell lung cancer-a case series of divergent results from a large reference laboratory.Frontiers in oncology · 2024Article
- Epidemiological characteristics and therapeutic advances of EGFR exon 20 insertion mutations in non-small cell lung cancer.Thoracic cancer · 2023Review
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Epidermal growth factor receptor (EGFR) exon 20 insertion mutations (ex20ins) account for ≤ 12% of all EGFR-mutant nonsmall cell lung cancers. We analysed real-world datasets to determine the frequency of ex20ins variants, and the ability of polymerase chain reaction (PCR) and next-generation sequencing (NGS) to identify them. Three real-world United States NGS databases were used: GENIE, FoundationInsights, and GuardantINFORM. Mutation profiles consistent with in-frame EGFR ex20ins were summarized. GENIE, FoundationInsights, and GuardantINFORM datasets identified 180, 627, and 627 patients with EGFR ex20ins respectively. The most frequent insertion region of exon 20 was the near loop (~ 70%), followed by the far loop (~ 30%) and the helical (~ 3-6%) regions. GENIE, FoundationInsights, and GuardantINFORM datasets identified 41, 102, and 96 unique variants respectively. An analysis of variants projected that ~ 50% of EGFR ex20ins identified by NGS would have been missed by PCR-based assays. Given the breadth of EGFR ex20ins identified in the real-world US datasets, the ability of PCR to identify these mutations is limited. NGS platforms are more appropriate to identify patients likely to benefit from EGFR ex20ins-targeted therapies.
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