Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434569
rs121434569
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
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
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
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
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
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
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
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
0.090 GeneticVariation BEFREE A concomitant squamous histology transformation in a lung non-T790M-resistant metastasis is also described. 24029120

2013

dbSNP: rs1057519847
rs1057519847
0.040 GeneticVariation BEFREE The 19del and L858R patients were similar regarding recurrent patterns, except on pleural/chest wall metastasis (26.0% vs. 12.2%, p = 0.007). 29026990

2018

dbSNP: rs1057519848
rs1057519848
0.040 GeneticVariation BEFREE The 19del and L858R patients were similar regarding recurrent patterns, except on pleural/chest wall metastasis (26.0% vs. 12.2%, p = 0.007). 29026990

2018

dbSNP: rs121434568
rs121434568
0.040 GeneticVariation BEFREE The 19del and L858R patients were similar regarding recurrent patterns, except on pleural/chest wall metastasis (26.0% vs. 12.2%, p = 0.007). 29026990

2018

dbSNP: rs1057519847
rs1057519847
0.040 GeneticVariation BEFREE Furthermore, retrospective analysis of 121 patients with lung adenocarcinoma to examine associations between serum SFTPD levels and clinical outcome indicated that in TKI-treated patients with lung cancer harboring EGFR mutations, including Ex19del or L858R, high serum SFTPD levels correlated with a lower number of distant metastases and prolonged overall survival and progression-free survival. 28745320

2017

dbSNP: rs1057519848
rs1057519848
0.040 GeneticVariation BEFREE Furthermore, retrospective analysis of 121 patients with lung adenocarcinoma to examine associations between serum SFTPD levels and clinical outcome indicated that in TKI-treated patients with lung cancer harboring EGFR mutations, including Ex19del or L858R, high serum SFTPD levels correlated with a lower number of distant metastases and prolonged overall survival and progression-free survival. 28745320

2017

dbSNP: rs121434568
rs121434568
0.040 GeneticVariation BEFREE Furthermore, retrospective analysis of 121 patients with lung adenocarcinoma to examine associations between serum SFTPD levels and clinical outcome indicated that in TKI-treated patients with lung cancer harboring EGFR mutations, including Ex19del or L858R, high serum SFTPD levels correlated with a lower number of distant metastases and prolonged overall survival and progression-free survival. 28745320

2017

dbSNP: rs1057519847
rs1057519847
0.040 GeneticVariation BEFREE No significant differences in pathological stage and metastasis status were found between EGFR wild-type and mutated cases, although EGFR mutation type was related to pathological type (p=0.00) - 19-del, L858R and other mutation types respectively occurred in 34.2%, 42.5% and 23.3% of adenocarcinomas, but in 14.3%, 0% and 85.7% of non-adenocarcinomas. 27039821

2016

dbSNP: rs1057519848
rs1057519848
0.040 GeneticVariation BEFREE No significant differences in pathological stage and metastasis status were found between EGFR wild-type and mutated cases, although EGFR mutation type was related to pathological type (p=0.00) - 19-del, L858R and other mutation types respectively occurred in 34.2%, 42.5% and 23.3% of adenocarcinomas, but in 14.3%, 0% and 85.7% of non-adenocarcinomas. 27039821

2016

dbSNP: rs121434568
rs121434568
0.040 GeneticVariation BEFREE No significant differences in pathological stage and metastasis status were found between EGFR wild-type and mutated cases, although EGFR mutation type was related to pathological type (p=0.00) - 19-del, L858R and other mutation types respectively occurred in 34.2%, 42.5% and 23.3% of adenocarcinomas, but in 14.3%, 0% and 85.7% of non-adenocarcinomas. 27039821

2016

dbSNP: rs1057519847
rs1057519847
0.040 GeneticVariation BEFREE Eligible participants were adults (> 18 years) with NSCLC and EGFR mutations (exon 19 deletion or L858R mutation in exon 21) with no history of chemotherapy for metastatic disease (neoadjuvant or adjuvant chemotherapy ending ≥ 6 months before study entry was allowed). 22285168

2012

dbSNP: rs1057519848
rs1057519848
0.040 GeneticVariation BEFREE Eligible participants were adults (> 18 years) with NSCLC and EGFR mutations (exon 19 deletion or L858R mutation in exon 21) with no history of chemotherapy for metastatic disease (neoadjuvant or adjuvant chemotherapy ending ≥ 6 months before study entry was allowed). 22285168

2012

dbSNP: rs121434568
rs121434568
0.040 GeneticVariation BEFREE Eligible participants were adults (> 18 years) with NSCLC and EGFR mutations (exon 19 deletion or L858R mutation in exon 21) with no history of chemotherapy for metastatic disease (neoadjuvant or adjuvant chemotherapy ending ≥ 6 months before study entry was allowed). 22285168

2012

dbSNP: rs397517132
rs397517132
0.030 GeneticVariation BEFREE The utility of immunohistochemistry (IHC) as an alternative approach for detection of BRAF(V600E) in the thoracic metastases of sporadic mCRC patients has not been evaluated until now. 24798160

2014

dbSNP: rs397517132
rs397517132
0.030 GeneticVariation BEFREE BRAF V600E also predicts poor prognosis in microsatellite stable colorectal cancers and may be a marker of resistance to anti-EGFR therapy in metastatic disease. 23650027

2013

dbSNP: rs397517132
rs397517132
0.030 GeneticVariation BEFREE On PTC univariate analysis, EGFR-H correlated with increasing stage, extrathyroid extension, tumor capsule invasion, adverse pathologic features (any demonstration of extrathyroid extension, tumor capsule invasion, lymphovascular invasion, lymph node metastasis, and/or distant metastasis), and BRAF(V600E) mutations. 23746767

2013

dbSNP: rs2227983
rs2227983
0.020 GeneticVariation BEFREE Our results show that, in patients with cervical cancer, the R497K polymorphism is correlated with treatment response and the risk of recurrence or metastasis. 31254173

2019