Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE A 67-year-old male who was initially diagnosed of EGFR L858R-mediated NSCLC received multiple lines of chemotherapy and EGFR TKI therapies after surgery. 29571986

2018

dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE In this double-blind, phase 3 trial, we randomly assigned 556 patients with previously untreated, EGFR mutation-positive (exon 19 deletion or L858R) advanced NSCLC in a 1:1 ratio to receive either osimertinib (at a dose of 80 mg once daily) or a standard EGFR-TKI (gefitinib at a dose of 250 mg once daily or erlotinib at a dose of 150 mg once daily). 29151359

2018

dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Non-small cell lung cancer (NSCLC) patients carrying specific EGFR kinase activating mutations (L858R, delE746-A750) respond well to tyrosine kinase inhibitors (TKIs). 27612423

2016

dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE In vitro radiotracer accumulation and washout studies demonstrated a rapid accumulation and progressive retention after washout of morpholino-[(131)I]IPQA derivative in high EGFR-expressing H1299 NSCLC derivative cell lines (L858R and E746-A750 del cell lines), but not in EGFR-transfected H1299 cell line and vector-transfected H1299 cell line. 23956990

2013

dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE We treated a 38-year-old patient with NSCLC who carried the EGFR L858R mutation. 30127621

2018

dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Two main categories of epidermal growth factor receptor (EGFR) mutations in non-small-cell lung cancer (NSCLC) patients are deletions in exon 19 and L858R in exon 21. 31327643

2019

dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Common epidermal growth factor receptor (EGFR) mutations in non-small-cell lung cancer (NSCLC) predict sensitivity to EGFR tyrosine kinase inhibitors (TKIs), with exon 19 deletions being associated with better outcome compared to L858R mutations. 30473385

2019

dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Finally, we evaluated the concordance between plasma and tumour tissues by simultaneously detecting EGFR L858R by ddPCR and LNA-dPNA PCR clamp in 132 tissues and matched plasma samples from patients with NSCLC. 30663747

2019

dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Multiple randomized clinical trials have demonstrated that epidermal growth factor receptor (EGFR) exon 19 deletion (19Del) and exon 21 L858R mutation (L858R) are highly correlated with sensitivity to epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKI) treatment in non-small-cell lung cancer (NSCLC). 29581983

2018

dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE The mutations consisted of the recurrent missense L858R and in-frame deletion delE746-A750, previously characterized as activating EGFR mutations in non-small cell lung cancer. 16857803

2006

dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE The gefitinib response rate of NSCLC with exon 20 mutations was 25%, far lower than those with deletions in exon 19 and L858R mutations. 18676761

2008

dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Seven of these mutations were novel, and one was the L858R mutation described in non-small-cell lung cancer. 18998063

2009

dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE No difference in radiosensitivity was observed between NSCLC cells with EGFR exon19 deletion (Del 19) mutation and exon 21 point mutation at position 858 (L858R) with or without T790M mutation (<i>P</i><0.05), as well as between NSCLC cells with EGFR mutation and those with acquired EGFR-tyrosine kinase inhibitors (TKIs) resistance. 30271203

2018

dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Patients with NSCLCs harboring EGFR exon 19 deletions or the exon 21 L858R mutation were found to have a higher chance of response to platinum-paclitaxel (OR 9.67 [95 % CI 1.03-90.41], p = 0.047). 24793378

2014

dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Non-small Cell Lung Cancer in South Wales: Are Exon 19 Deletions and L858R Different? 27466542

2016

dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Fifty-six distinct uncommon <i>EGFR</i> mutations other than L858R, exon19del, exon20ins, or T790M were identified in 18.9% of patients with <i>EGFR</i>-mutant NSCLC. 30902917

2019

dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE The non-small cell lung cancer (NSCLC)-associated EGFR mutants, L858R and G719S, are constitutively active and oncogenic. 22349823

2013

dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE We used ddPCR to assess the utility of measuring plasma concentrations of common epidermal growth factor receptor (EGFR) mutations (L858R, exon 19 deletion, and T790M) in 57 non-small cell lung cancer (NSCLC) patients treated with EGFR tyrosine kinase inhibitors (EGFR-TKIs). 28061461

2017

dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE In our case, a non-small cell lung cancer patient developed intrinsic EGFR-TKI resistance and was then confirmed to simultaneously harbor an L858R mutation and ROS1 rearrangement. 30775851

2019

dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Epidermal growth factor (EGFR) tyrosine kinase inhibitors (TKIs), such as gefitinib and erlotinib, show excellent clinical efficacy for patients with non-small cell lung cancer (NSCLC) with EGFR mutations, including Exon 19 deletion and single-point substitution, and L858R of exon 21. 29031620

2018

dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE We enrolled patients aged 18-75 years with completely resected (R0), stage II-IIIA (N1-N2), EGFR-mutant (exon 19 deletion or exon 21 Leu858Arg) NSCLC. 29174310

2018

dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Previously, we detected circulating tumor DNA that contained two EGFR mutations (p.L858R and exon19 del) in plasma of patients with late-stage non-small-cell lung carcinoma (NSCLC) using the electric field-induced release and measurement (EFIRM) platform. 30309763

2018

dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Collectively, compound <b>13</b>, a novel hederagenin-NO donor hybrid with a different chemical structure from those of the current FDA-approved EGFR-targeted anti-NSCLC drugs, may be a promising lead compound for the treatment of NSCLC expressing gefitinib-resistant EGFR with a T790 M mutation or osimertinib-resistant EGFR-LTC with an L858R/T790M/C797S mutation. 31718182

2019

dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Prognostic value of EGFR 19-del and 21-L858R mutations in patients with non-small cell lung cancer. 31516600

2019

dbSNP: rs1057519848
rs1057519848
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Most common activating mutations include in-frame deletion in exon 19 and L858R substitution in exon 21, which account for >90% of all EGFR mutations in NSCLC. 28827701

2017