التفاصيل البيبلوغرافية
| العنوان: |
Frequency, underdiagnosis, and heterogeneity of epidermal growth factor receptor exon 20 insertion mutations using real‐world genomic datasets |
| المؤلفون: |
Viteri, Santiago, Minchom, Anna, Bazhenova, Lyudmila, Ou, Sai‐Hong Ignatius, Bauml, Joshua M, Shell, Scott A, Schaffer, Michael, Gu, Junchen, Rose, Jennifer B, Curtin, Joshua C, Mahadevia, Parthiv, Girard, Nicolas |
| المصدر: |
Molecular Oncology, vol 17, iss 2 |
| بيانات النشر: |
eScholarship, University of California |
| سنة النشر: |
2023 |
| المجموعة: |
University of California: eScholarship |
| مصطلحات موضوعية: |
Biomedical and Clinical Sciences, Clinical Sciences, Oncology and Carcinogenesis, Genetics, Biotechnology, 2.1 Biological and endogenous factors, Aetiology, Humans, Lung Neoplasms, Mutagenesis, Insertional, ErbB Receptors, Mutation, Exons, Genomics, Protein Kinase Inhibitors, EGFR, Exon 20 insertion mutations, NGS, NSCLC, PCR, Oncology & Carcinogenesis |
| جغرافية الموضوع: |
230 - 237 |
| الوصف: |
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. |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
application/pdf |
| اللغة: |
unknown |
| العلاقة: |
qt1hq456d2; https://escholarship.org/uc/item/1hq456d2Test |
| الإتاحة: |
https://escholarship.org/uc/item/1hq456d2Test |
| حقوق: |
public |
| رقم الانضمام: |
edsbas.69429932 |
| قاعدة البيانات: |
BASE |
