Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE The incidence of <i>EGFR</i> T790M tended to be higher among patients with CNS PD than in those without CNS PD, although the difference was not statistically significant (66.7% <i>vs.</i> 40.4%; P=0.23). 31179076

2019

dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE In conclusion, the real-world clinical adoption of the combination approach with both tissue rebiopsy and liquid biopsy for T790M genotyping may provide significant benefits to patients who have developed PD after first-generation TKI treatments. 30927306

2019

dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE The presence of an EGFRm (excluding T790M) was associated with untreated or progressive disease, p = 0.04. 31027703

2019

dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE Total duration of EGFR-TKI treatment before rebiopsy, TKI-free interval, EGFR-TKI treatment history immediately before rebiopsy, continuation of initial EGFR-TKI beyond progressive disease, progression-free survival after initial TKI treatment, and rebiopsy site (other than fluid samples) significantly influenced T790M status. 28866043

2018

dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE Osimertinib was approved by the US Food & Drug Administration in November 2015 for patients whose tumors exhibited T790M mutation and for those with progressive disease on other EGFR TKIs. 28367058

2017

dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE However, the levels of the EGFR exon 19 deletion driver mutation and the T790M resistance mutation in the circulating tumor DNA continued to rise and the patient died from progressive disease 6 weeks after commencement of combination therapy. 28843359

2017

dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE T790M was detected in 14/29 patients (48.3%) with a partial response to afatinib, 1/4 patients (25%) with stable disease, and 1/4 patients (25%) with progressive disease as the best response. 28978102

2017

dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE A total of 4 of the 5 patients with a history of T790M positivity based on plasma DNA levels had PD. 28588734

2017

dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE Almost half of the T790M ctDNA positive patients were identified at a median time of 2.2 months prior to clinically progressive disease (PD). 26867973

2016

dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE Dividing into four periods (before PD, at PD, at discontinuation of EGFR-TKI and subsequently), T790M was detected in 10, 19, 24 and 27% of patients, respectively. 26577492

2016

dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE EGFR T790M was identified from plasma DNA in 54% (15 of 28) of patients with prior clinical response to gefitinib/erlotinib, 29% (4 of 14) with prior stable disease, and in 0% (0 of 12) that had primary progressive disease or were untreated with gefitinib/erlotinib. 19351754

2009

dbSNP: rs1057519847
rs1057519847
0.040 GeneticVariation BEFREE Here, we conducted a retrospective study to assess 375 patients whose initial biopsy indicated a TKI-sensitizing mutation (either EGFR 19del or L858R) and who developed PD after treatment with first-generation TKIs, and assayed for T790M status. 30927306

2019

dbSNP: rs1057519848
rs1057519848
0.040 GeneticVariation BEFREE Here, we conducted a retrospective study to assess 375 patients whose initial biopsy indicated a TKI-sensitizing mutation (either EGFR 19del or L858R) and who developed PD after treatment with first-generation TKIs, and assayed for T790M status. 30927306

2019

dbSNP: rs121434568
rs121434568
0.040 GeneticVariation BEFREE Here, we conducted a retrospective study to assess 375 patients whose initial biopsy indicated a TKI-sensitizing mutation (either EGFR 19del or L858R) and who developed PD after treatment with first-generation TKIs, and assayed for T790M status. 30927306

2019

dbSNP: rs1057519847
rs1057519847
0.040 GeneticVariation BEFREE Patients with EGFR-activating mutations (del19 and L858R) that progressed using first-line gefitinib treatment were enrolled and treated with gefitinib beyond PD plus pemetrexed 500 mg/m<sup>2</sup> q3w. 30268482

2018

dbSNP: rs1057519848
rs1057519848
0.040 GeneticVariation BEFREE Patients with EGFR-activating mutations (del19 and L858R) that progressed using first-line gefitinib treatment were enrolled and treated with gefitinib beyond PD plus pemetrexed 500 mg/m<sup>2</sup> q3w. 30268482

2018

dbSNP: rs121434568
rs121434568
0.040 GeneticVariation BEFREE Patients with EGFR-activating mutations (del19 and L858R) that progressed using first-line gefitinib treatment were enrolled and treated with gefitinib beyond PD plus pemetrexed 500 mg/m<sup>2</sup> q3w. 30268482

2018

dbSNP: rs1057519847
rs1057519847
0.040 GeneticVariation BEFREE Eight patients received an EGFR TKI: three cases with G719X plus another mutation had partial responses (PRs) to erlotinib; of three cases with L858R plus another mutation, two displayed PRs and one (with EGFR-L858R+A871G) progressive disease (PD) to erlotinib; one NSCLC with EGFR-L861Q+E709A and one with delL747_T751+R776S had PRs to EGFR TKIs. 23242437

2013

dbSNP: rs1057519848
rs1057519848
0.040 GeneticVariation BEFREE Eight patients received an EGFR TKI: three cases with G719X plus another mutation had partial responses (PRs) to erlotinib; of three cases with L858R plus another mutation, two displayed PRs and one (with EGFR-L858R+A871G) progressive disease (PD) to erlotinib; one NSCLC with EGFR-L861Q+E709A and one with delL747_T751+R776S had PRs to EGFR TKIs. 23242437

2013

dbSNP: rs121434568
rs121434568
0.040 GeneticVariation BEFREE Eight patients received an EGFR TKI: three cases with G719X plus another mutation had partial responses (PRs) to erlotinib; of three cases with L858R plus another mutation, two displayed PRs and one (with EGFR-L858R+A871G) progressive disease (PD) to erlotinib; one NSCLC with EGFR-L861Q+E709A and one with delL747_T751+R776S had PRs to EGFR TKIs. 23242437

2013

dbSNP: rs1057519847
rs1057519847
0.040 GeneticVariation BEFREE All 4 patients with progressive disease had a L858R mutation. 20430469

2011

dbSNP: rs1057519848
rs1057519848
0.040 GeneticVariation BEFREE All 4 patients with progressive disease had a L858R mutation. 20430469

2011

dbSNP: rs121434568
rs121434568
0.040 GeneticVariation BEFREE All 4 patients with progressive disease had a L858R mutation. 20430469

2011

dbSNP: rs1405999227
rs1405999227
0.010 GeneticVariation BEFREE Regarding the efficacy of anti-EGFR therapy, the patient with an I326V mutation had progressive disease (+115%) despite no genetic alterations detected in the EGFR pathway that could drive resistance, suggesting an alternate resistance mechanism. 30463788

2018

dbSNP: rs1057519861
rs1057519861
0.010 GeneticVariation BEFREE After 3 months of progression-free survival, he experienced progressive disease with emergence of EGFR C797S located in cis to T790M. 28662863

2017