Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cervical Intraepithelial Neoplasia
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
0.010 GeneticVariation BEFREE CIN significantly increased during TKI treatment in T790M-negative patients and is a candidate resistance mechanism to the first-generation TKIs. 31754213 2020
Cervical Squamous Intraepithelial Neoplasia
0.010 GeneticVariation BEFREE CIN significantly increased during TKI treatment in T790M-negative patients and is a candidate resistance mechanism to the first-generation TKIs. 31754213 2020
Secondary malignant neoplasm of lung
0.010 GeneticVariation BEFREE T790M detection was associated with higher number of new progressing sites (P = .04), liver progression (P = .002), and a lower frequency of lung metastases (P = .027). 31601525 2020
Secondary malignant neoplasm of bone
0.010 GeneticVariation BEFREE Plasma T790M status correlated with a higher number of metastatic sites (4 vs. 3, <i>p</i> < .001) and bone metastases (<i>p</i> = .0002).<b>Conclusion:</b> Plasma <i>EGFR</i> T790M testing had shorter TAT compared to tissue testing, however, it was longer than anticipated. 31347936 2019
Sarcoma
CUI: C1261473
Disease: Sarcoma
0.010 GeneticVariation BEFREE <i>EGFR</i>-dependent (T790M and C797S mutations) and independent (Mesenchymal Epithelial Transition [<i>MET</i>] gene amplification, Kirsten Rat Sarcoma [<i>KRAS</i>], Phosphatidyl-Inositol 4,5-bisphosphate 3-Kinase Catalytic subunit Alpha isoform [<i>PI3KCA</i>], and RAF murine sarcoma viral oncogene homolog B1 [<i>BRAF</i>] gene mutations) mechanisms of resistance to EGFR tyrosine kinase inhibitors (TKIs) have been evaluated in plasma samples from NSCLC patients using highly sensitive methods (i.e., digital droplet PCR, Next Generation Sequencing), allowing for the switch to other therapies. 31416192 2019
Malignant neoplasm of soft tissue
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
0.010 GeneticVariation BEFREE <i>EGFR</i>-dependent (T790M and C797S mutations) and independent (Mesenchymal Epithelial Transition [<i>MET</i>] gene amplification, Kirsten Rat Sarcoma [<i>KRAS</i>], Phosphatidyl-Inositol 4,5-bisphosphate 3-Kinase Catalytic subunit Alpha isoform [<i>PI3KCA</i>], and RAF murine sarcoma viral oncogene homolog B1 [<i>BRAF</i>] gene mutations) mechanisms of resistance to EGFR tyrosine kinase inhibitors (TKIs) have been evaluated in plasma samples from NSCLC patients using highly sensitive methods (i.e., digital droplet PCR, Next Generation Sequencing), allowing for the switch to other therapies. 31416192 2019
Hydrothorax
CUI: C0020312
Disease: Hydrothorax
0.010 GeneticVariation BEFREE Genomic DNA (gDNA) from tissue and cells in hydrothorax and circulating tumor DNA (ctDNA) from peripheral blood (PB), and clinicopathological data were retrospectively collected from 263 patients who visited Sun Yat-sen University Cancer Center for T790M test. 31463130 2019
Primary Lesion
CUI: C1402294
Disease: Primary Lesion
0.010 GeneticVariation BEFREE The detection rate of T790M mutations in CSF was 18.1% (2 of 11) in all cases with EGFR-sensitive mutations in the primary lesion. 30452286 2019
Lung Diseases, Interstitial
CUI: C0206062
Disease: Lung Diseases, Interstitial
0.010 GeneticVariation BEFREE Successful treatment with osimertinib and its subsequent resistance mechanism in a patient with non-small-cell lung cancer harboring acquired EGFR T790M mutation after recovery from AC0010-induced interstitial lung disease. 31371992 2019
progressive non-small cell lung cancer
0.010 GeneticVariation BEFREE Osimertinib has been approved by the Food and Drug Administration (FDA) of the United States (US) for the treatment of progressive non-small cell lung cancer (NSCLC) that has acquired T790M mutation during treatment with first-line epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKI). 31802642 2019
Tumor Angiogenesis
CUI: C1519670
Disease: Tumor Angiogenesis
0.010 GeneticVariation BEFREE Disruption of mTORC2 inhibited EGFR/T790M-positive tumor growth in mouse brain and prolonged animal survival correlating a diminished tumor angiogenesis and recruitment of IBA1+ microglia/macrophages in tumor microenvironment. 30796032 2019
Leptomeningeal Neoplasms
CUI: C0751297
Disease: Leptomeningeal Neoplasms
0.010 GeneticVariation BEFREE Standard-dose osimertinib resulted in a clinically meaningful response in a patient with <i>EGFR</i> T790M-negative 1st generation EGFR TKI refractory leptomeningeal disease. 31285867 2019
Multiple Chronic Conditions
CUI: C3266262
Disease: Multiple Chronic Conditions
0.010 GeneticVariation BEFREE Acquired <i>EGFR</i> T790M Mutation After Relapse Following EGFR-TKI Therapy: A Population-based Multi-institutional Study. 29715155 2018
Pleural effusion disorder
CUI: C0032227
Disease: Pleural effusion disorder
0.010 GeneticVariation BEFREE T790M mutations disappeared from cancer cells in the p</span>leural effusion after a break from the treatment drug and cytotoxic agent administration. 30145590 2018
Hashimoto Disease
CUI: C0677607
Disease: Hashimoto Disease
0.010 GeneticVariation BEFREE We present a rare case of CASTLE, occurring in association with Hashimoto thyroiditis, with emphasis on cytological features and report for the first time the presence of a low level somatic mutation in EGFR (EGFR T790M mutation). 29115061 2018
Signs and Symptoms, Respiratory
CUI: C0037090
Disease: Signs and Symptoms, Respiratory
0.010 GeneticVariation BEFREE This case represents the first evidence that 1) bevacizumab combined with osimertinib can significantly relieve tumor growth and respiratory symptoms in non-small-cell lung cancer patients with osimertinib resistance and 2) the clinical use of osimertinib, bevacizumab, and brigatinib is effective as combination therapy for pulmonary adenocarcinoma in the presence of triple EGFR mutations of L858R, T790M, and <i>cis</i>-C797S. 30233215 2018
HER2-positive carcinoma of breast
CUI: C1960398
Disease: HER2-positive carcinoma of breast
0.010 GeneticVariation BEFREE We developed experimental brain metastasis models by intraventricular injection (intraventricular injection mouse model; IVM) of HER2-positive breast cancer (MDA-MB-361-luc-BR2/BR3) or T790M-EGFR-positive lung cancer (NCI-H1975-luc) cells. 29321587 2018
Squamous cell carcinoma of the head and neck
0.010 GeneticVariation BEFREE Higher frequency of EGFR-TK domain mutations together with the presence of the T790M mutation suggests that identification of these mutations might streamline the therapy and provide a better prognosis in HNSCC cases. 28352186 2017
stage, non-small cell lung cancer
CUI: C0280217
Disease: stage, non-small cell lung cancer
0.010 GeneticVariation BEFREE Liquid biopsies (LB) are used routinely in clinical practice in two situations for late stage non-small-cell lung cancer (NSCLC) patients, (i) at the initial diagnosis when looking for activating mutations in EGFR in the absence of analyzable tissue DNA and, (ii) during tumor progression on a tyrosine kinase inhibitor treatment to look for the resistance mutation T790M in EGFR. 29069959 2017
Nodule
CUI: C0028259
Disease: Nodule
0.010 GeneticVariation BEFREE In this case report, we described a 37-year-old woman who underwent refractory after second-line gefitinib therapy and was confirmed to have SCLC transformation without the T790M mutation in the left lobar nodule, but concomitant with the plasma-genotyped EGFR T790M mutation. 28723866 2017
Anaplastic large B-cell lymphoma
CUI: C1321546
Disease: Anaplastic large B-cell lymphoma
0.010 GeneticVariation BEFREE Extensively validated 3D pharmacophore models for ALK (anaplastic lymphoma kinase) and EGFR (T790M) (epithelial growth factor receptor with acquired secondary mutation) were developed. 28290719 2017
Large cell neuroendocrine carcinoma
CUI: C1265996
Disease: Large cell neuroendocrine carcinoma
0.010 GeneticVariation BEFREE Large Cell Neuroendocrine Carcinoma Transformation and EGFR-T790M Mutation as Coexisting Mechanisms of Acquired Resistance to EGFR-TKIs in Lung Cancer. 28778263 2017
Secondary malignant neoplasm of lymph node
0.010 GeneticVariation BEFREE After her death, an autopsy revealed SCLC transformation and EGFR T790M secondary mutation (T790M) as mutually exclusive resistance mechanisms occurring differently in different metastases; two liver metastases (SCLC versus AC with T790M) and two lymph node metastases (SCLC versus AC with T790M) were analyzed to compare the expression status of immune markers by immunohistochemistry and by an immune oncology gene expression panel. 28193529 2017
Carcinoma, Spindle-Cell
CUI: C0205697
Disease: Carcinoma, Spindle-Cell
0.010 GeneticVariation BEFREE Using histological and gene sequencing analysis, we observed that the primary adenocarcinoma acquired T790M mutation in EGFR exon 20, and a secondary sarcomatoid carcinoma developed in the vicinity. 28786540 2017
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA
0.010 GeneticVariation BEFREE In conclusion bevacizumab plus EGFR-TKIs could be a valuable treatment for NSCLC patients presenting with MPE upon resistant to EGFR-TKIs therapy, especially for those with acquired T790M mutation. 28977977 2017