Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434569
rs121434569
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.090 GeneticVariation BEFREE In addition, genomic rearrangements and late amplification of the EGFR gene likely induced by afatinib treatment following the acquisition of a T790M gefitinib resistance mutation provided further evidence to tie the time of metastasis formation to treatment history. 30694556

2019

dbSNP: rs121434569
rs121434569
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.090 GeneticVariation BEFREE A mathematical model was established by combining a decision tree and the Markov approach to project the cost-effectiveness of osimertinib versus standard chemotherapy for the treatment of patients who harbor an EGFR T790M mutation and have disease progression after first-line EGFR TKI therapy with or without metastases to the central nervous system. 29101057

2018

dbSNP: rs121434569
rs121434569
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.090 GeneticVariation BEFREE In a subgroup of patients with intrathoracic metastatic disease (M0/M1a; n = 21), the sensitivity increased from 26% to 74% for activating mutations (P = 0.003) and from 19% to 31% for T790M (P = 0.5) when using exoNA for detection. 29216356

2018

dbSNP: rs121434569
rs121434569
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.090 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

dbSNP: rs121434569
rs121434569
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.090 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

dbSNP: rs121434569
rs121434569
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.090 GeneticVariation BEFREE Osimertinib is an oral, highly selective, irreversible inhibitor of both EGFR-activating mutations and the T790M-resistance mutation, while sparing the activity of wild-type EGFR This article reviews clinical trial development of osimertinib in patients with NSCLC, presenting efficacy and safety evidence for its value in the EGFR T790M mutation-positive population and in different settings, including patients with metastatic disease. 27784815

2016

dbSNP: rs121434569
rs121434569
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.090 GeneticVariation BEFREE The application of real-time PCR technique to detect rare cell clones with primary T790M Substitution of EGFR gene in metastases of non-small cell lung cancer to central nervous system in chemotherapy naive patients. 24789720

2014

dbSNP: rs121434569
rs121434569
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.090 GeneticVariation BEFREE : Our results imply that blockade of the TGF-β signaling pathway combined with continuous EGFR TKI treatment will be beneficial in preventing metastasis in patients with EGFR TKI-resistant NSCLC without the EGFR T790M resistance mutation. 23334091

2013

dbSNP: rs121434569
rs121434569
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.090 GeneticVariation BEFREE A concomitant squamous histology transformation in a lung non-T790M-resistant metastasis is also described. 24029120

2013