Twenty‐One Novel EGFR Kinase Domain variants in Patients with Nonsmall Cell Lung Cancer

摘要: Somatic sequence variants in the epidermal growth factor receptor (EGFR) kinase domain are associated with sensitivity to tyrosine inhibitors (TKIs) patients nonsmall cell lung cancer (NSCLC). Patients exhibiting this that produce activity enhancement, more likely benefit from TKIs than EGFR wild-type disease. Although most NSCLC EGFR-related alleles concentrated a few positions, established protocols recommend sequencing exons 18-21. In study, 21 novel somatic belonging such adult Argentinean affected reported. Of these, 18 were single amino acid substitutions (SASs), occurring alone or combination another genetic alteration (complex cases), one was short deletion, deletion-short insertion combination, and duplication. New different combinations of previously reported also found. Moreover, two SASs occurred unreported positions domain. order characterize new variants, physicochemical, conformational analyses performed. A better understanding may facilitate appropriate treatment choice for complex