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Detection of rare and novel EGFR mutations in NSCLC patients: Implications for treatment-decision

Lung Cancer Jan 07, 2020

Sousa AC, Silveira A, Janeiro A, et al. - In total, 1,228 patients with non-small cell lung cancer (NSCLC) were screened for mutations in exons 18–21 of the epidermal growth factor receptor (EGFR) gene using Sanger sequencing in order to ascertain the predominance of rare mutations in the tyrosine kinase domain (exons 18–21) of the EGFR gene not targeted by the most often used real-time PCR approaches, ie, the cobas® EGFR Mutation Test, and the Idylla™ EGFR Mutation Assay. A total of 252 patients (∼20%) had at least one mutation in the EGFR gene, and 38 (∼3%) carried uncommon genetic alterations that would not be recognized by the cobas® or the Idylla™ tests. Moreover, six new single mutations and seven formerly unreported compound mutations were also seen. Clinical information and patient outcome were shown for these cases. In conclusion, this study reflects the value of sequencing-based strategies to determine rare mutations. Thus, results add to the inventory of known EGFR mutations, hence adding to enhanced lung cancer precision treatment.
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