Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.100 GeneticVariation BEFREE Pre-TKI and post-TKI biopsies from 27 patients with an activating EGFR mutation were collected and analyzed for EGFR-T790M mutation, MET amplification, and SCLC transformation. 31644442 2019
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.100 GeneticVariation BEFREE This patient acquired resistance to first-generation EGFR-TKIs through small cell lung cancer (SCLC) transformation accompanied by the T790M mutation. 30521113 2019
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.100 GeneticVariation BEFREE Patients with both <i>TP53</i> and <i>EGFR</i> mutations before treatment had worse overall survival than those with only <i>EGFR</i> Patients who progressed without T790M had worse PFS during TKI continuation and developed alternative alterations, including small-cell lung cancer-associated copy number changes and <i>TP53</i> mutations, that tracked subsequent treatment responses. 29848757 2018
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.100 GeneticVariation BEFREE The mechanism of the first-generation epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKIs) acquired resistance included T790M mutation, cellular-mesenchymal to epithelial transition factor (MET) or EGFR amplification, PIK3CA mutation, and transformation to small cell lung cancer. 29505507 2018
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.100 GeneticVariation BEFREE Clinically, EGFR-positive NSCLC acquires several resistance mechanisms during EGFR-TKI treatment, such as the emergence of a secondary mutation (T790M), MET gene amplification, and transformation to small cell lung cancer. 30290647 2018
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.100 GeneticVariation BEFREE The carcinoma in seven patients transformed to small cell lung carcinoma; two of these patients enrolled in theAZD9291 study after acquiring a T790M missense mutation. 29120087 2018
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.100 GeneticVariation BEFREE Subsequently, the right thoracic wall tumor harboring T790M and the right pleural tumor near the diaphragm showing transformation to SCLC exhibited opposite responses to therapy alternating between osimertinib and chemotherapy. 30603652 2018
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.100 GeneticVariation BEFREE Our case report uncovered the underling relationship between SCLC transformation and the T790M mutation, and the fluid biopsy approach may help overcome the problem of heterogeneity in acquired resistance to EGFR-tyrosine kinase inhibitors. 28723866 2017
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.100 GeneticVariation BEFREE Thus, this advanced EGFR-mutated NSCLC displayed very rapid onset and heterogeneous genetic and phenotypic mechanisms of TKI-resistance occurring at different times and locations of metastatic disease: concomitant FGFR3-mutation before and during TKI-treatment as potential intrinsic mechanism for the rapid progression; transformation to SCLC at first progression during TKI-therapy; acquired T790M EGFR-mutation at second progression. 29110841 2017
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.100 GeneticVariation BEFREE Several mechanisms for this acquired resistance have been identified, including development of an EGFR T790M mutation, MET amplification, hepatocyte growth factor overexpression, loss of phosphatase and tensin homolog expression, epithelial-mesenchymal transition, and transformation to small cell lung cancer. 28786540 2017
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.100 GeneticVariation BEFREE Two T790-wild-type cancers underwent small cell lung cancer transformation; three T790M-positive cancers acquired EGFR amplification. 25934077 2015
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.100 GeneticVariation BEFREE In the present study, through an in-depth analysis of multiple EGFR-TKI refractory lesions obtained from an autopsy case, we observed a complementary relationship between SCLC transformation and EGFR T790M secondary mutation (resistance mutation). 26400668 2015
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.100 GeneticVariation BEFREE Several mechanisms of resistance to TKI have been described, threonine-methionine substitution at position 790 (T790M), mesenchymal-epithelial transition factor (MET) amplification, overexpression of hepatocyte growth factor (HGF), upregulation of insulin-like growth factor (IGF) receptor signaling, transformation to small cell lung cancer, and so on. 24316558 2014
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.100 GeneticVariation BEFREE EGFR T790M secondary mutation, MET gene amplification, and transformation to small cell lung cancer are well-validated mechanisms that underlie acquisition of resistance to EGFR-TKIs. 24939008 2014
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.100 GeneticVariation BEFREE The mechanisms for acquired resistance include selection of the EGFR T790M mutation in approximately 50% of cases, and MET gene amplification, PIK3CA gene mutation, transdifferentiation into small-cell lung cancer and additional rare or unkown mechanisms. 23664448 2013