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: rs113488022
rs113488022
0.050 GeneticVariation BEFREE Additionally, the presence of BRAFV600E was tested in peripheral mononuclear blood cells (PBMCs) as well as brain biopsies from LCH-ND patients, and the response to BRAF-V600E inhibitor was evaluated in 4 patients with progressive disease. 29624648

2018

dbSNP: rs121913377
rs121913377
0.050 GeneticVariation BEFREE Additionally, the presence of BRAFV600E was tested in peripheral mononuclear blood cells (PBMCs) as well as brain biopsies from LCH-ND patients, and the response to BRAF-V600E inhibitor was evaluated in 4 patients with progressive disease. 29624648

2018

dbSNP: rs113488022
rs113488022
0.050 GeneticVariation BEFREE Quantitative imaging analysis revealed progressive disease and a lack of response to conventional chemotherapy in most patients with BRAF V600E PLGG. 28727518

2017

dbSNP: rs121913377
rs121913377
0.050 GeneticVariation BEFREE Quantitative imaging analysis revealed progressive disease and a lack of response to conventional chemotherapy in most patients with BRAF V600E PLGG. 28727518

2017

dbSNP: rs113488022
rs113488022
0.050 GeneticVariation BEFREE In the cohort of WDTC with distant metastasis, patients with wild-type BRAF and TERT promoter had a significantly higher response rate after radioiodine therapy (p = 0.024), whereas the BRAF V600E mutation was significantly correlated with progressive disease (p = 0.025). 26857243

2016

dbSNP: rs121913377
rs121913377
0.050 GeneticVariation BEFREE In the cohort of WDTC with distant metastasis, patients with wild-type BRAF and TERT promoter had a significantly higher response rate after radioiodine therapy (p = 0.024), whereas the BRAF V600E mutation was significantly correlated with progressive disease (p = 0.025). 26857243

2016

dbSNP: rs113488022
rs113488022
0.050 GeneticVariation BEFREE Vemurafenib induces tumour regression in most patients with BRAF(V600E)-mutant melanoma; eventually, most experience progressive disease (PD). 25980594

2015

dbSNP: rs121913377
rs121913377
0.050 GeneticVariation BEFREE Vemurafenib induces tumour regression in most patients with BRAF(V600E)-mutant melanoma; eventually, most experience progressive disease (PD). 25980594

2015

dbSNP: rs113488022
rs113488022
0.050 GeneticVariation BEFREE Six had V600E-positive tumours (n=4 had PD; n=1 had SD; n=1 unevaluable for response), and 11 had tumours containing wild-type BRAF (n=9 PD; n=1 SD; n=1 unevaluable for response). 16880785

2006

dbSNP: rs121913377
rs121913377
0.050 GeneticVariation BEFREE Six had V600E-positive tumours (n=4 had PD; n=1 had SD; n=1 unevaluable for response), and 11 had tumours containing wild-type BRAF (n=9 PD; n=1 SD; n=1 unevaluable for response). 16880785

2006

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