Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Tumor cells from a sixth patient with a drug-sensitive EGFR mutation whose tumor progressed on adjuvant gefitinib after complete resection also contained the T790M mutation. 15737014 2005
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Biochemical analyses of transfected cells and growth inhibition studies with lung cancer cell lines demonstrate that the T790M mutation confers resistance to EGFR mutants usually sensitive to either gefitinib or erlotinib. 15737014 2005
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE Biochemical analyses of transfected cells and growth inhibition studies with lung cancer cell lines demonstrate that the T790M mutation confers resistance to EGFR mutants usually sensitive to either gefitinib or erlotinib. 15737014 2005
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.100 GeneticVariation BEFREE Biochemical analyses of transfected cells and growth inhibition studies with lung cancer cell lines demonstrate that the T790M mutation confers resistance to EGFR mutants usually sensitive to either gefitinib or erlotinib. 15737014 2005
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.100 GeneticVariation BEFREE These inhibitors also show effective inhibition of signaling by T790M-mutant EGFR and killing of NSCLC cells with the T790M mutation. 15897464 2005
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFR. 16258541 2005
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.100 GeneticVariation BEFREE Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFR. 16258541 2005
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFR. 16258541 2005
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE We also identified the TKI drug resistance-associated EGFR T790M mutation in an untreated case of Barrett's esophagus and the corresponding adenocarcinoma. 16857803 2006
Barrett Esophagus
CUI: C0004763
Disease: Barrett Esophagus
0.010 GeneticVariation BEFREE We also identified the TKI drug resistance-associated EGFR T790M mutation in an untreated case of Barrett's esophagus and the corresponding adenocarcinoma. 16857803 2006
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE A secondary mutation, T790M, has been associated with acquired resistance but has not been shown to be sufficient to render EGFR mutant/amplified lung cancers resistant to EGFR inhibitors. 16906227 2006
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.100 GeneticVariation BEFREE Our results indicate that the T790M mutation is sometimes present in a minor population of tumor cells during the development of NSCLC and suggest that the detection of small fractions of T790M mutant alleles may be useful for predicting gefitinib resistance of NSCLCs with sensitive EGFR mutations. 16912157 2006
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Our results indicate that the T790M mutation is sometimes present in a minor population of tumor cells during the development of NSCLC and suggest that the detection of small fractions of T790M mutant alleles may be useful for predicting gefitinib resistance of NSCLCs with sensitive EGFR mutations. 16912157 2006
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE A secondary T790M mutation of EGFR accounted for half the tumors with acquired resistance to gefitinib in Japanese patients. 17020982 2006
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE Novel D761Y and common secondary T790M mutations in epidermal growth factor receptor-mutant lung adenocarcinomas with acquired resistance to kinase inhibitors. 17085664 2006
Metastatic malignant neoplasm to brain
0.100 GeneticVariation BEFREE Seven mutations were T790M and one was a novel D761Y mutation found in a brain metastasis. 17085664 2006
Metastatic Malignant Neoplasm in the Viscera
0.010 GeneticVariation BEFREE In an autopsy case, the T790M mutation was found in multiple visceral metastases but not in a brain lesion. 17085664 2006
Lesion of brain
CUI: C0221505
Disease: Lesion of brain
0.010 GeneticVariation BEFREE In an autopsy case, the T790M mutation was found in multiple visceral metastases but not in a brain lesion. 17085664 2006
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.100 GeneticVariation BEFREE The gefitinib-resistant, T790M-mutant H1975 NSCLC cell line undergoes prominent growth arrest and apoptosis when treated with the irreversible EGFR inhibitor, CL-387,785. 17145885 2006
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.100 GeneticVariation BEFREE The detection of a small fraction of T790M-positive alleles may be useful to predict the clinical course of the gefitinib-treated non-small-cell lung cancer patients. 17335935 2007
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Our observations show that EGFR-T790M provides a proliferative advantage with respect to WT EGFR and suggest that the enhanced kinase activity of this mutant is the basis for rare cases of inherited susceptibility to lung cancer. 17510392 2007
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.100 GeneticVariation BEFREE Our observations show that EGFR-T790M provides a proliferative advantage with respect to WT EGFR and suggest that the enhanced kinase activity of this mutant is the basis for rare cases of inherited susceptibility to lung cancer. 17510392 2007
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE Our observations show that EGFR-T790M provides a proliferative advantage with respect to WT EGFR and suggest that the enhanced kinase activity of this mutant is the basis for rare cases of inherited susceptibility to lung cancer. 17510392 2007
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE A gefitinib-resistant point mutation (T790M) in exon 20 without gefitinib treatment was detected in 1 AAH and 1 adenocarcinoma. 17561305 2007
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE While they produce dramatic responses in a subset of patients-primarily those with activating EGFR mutations-remissions are typically limited to several months due to acquired drug resistance, frequently associated with the secondary T790M mutation in EGFR.In this issue of Cancer Cell, Li et al. report that an irreversible EGFR kinase inhibitor, HKI-272, had limited activity in a mouse lung cancer model driven by an EGFR mutant harboring T790M and an activating mutation. 17613432 2007