Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434568
rs121434568
0.800 GeneticVariation BEFREE Increasing evidence has demonstrated that exon 19 deletions (Del19) and L858R mutation in EGFR have different prognostic and predictive roles in NSCLC. 28576746

2018

dbSNP: rs121434568
rs121434568
0.800 GeneticVariation BEFREE Tyrosine kinase inhibitors (EGFR-TKIs) targeting the epidermal growth factor receptor (EGFR) have been used in non-small cell lung carcinoma (NSCLC) for years with promising results, in particular in patients with activating mutations in the EGFR kinase domain (exon 19 E746-A750 deletion or exon 21 L858R point mutation). 28489575

2018

dbSNP: rs121434568
rs121434568
0.800 GeneticVariation BEFREE An exon 19 deletion and a L858R mutation in exon 21 of the epidermal growth factor receptor (EGFR) are the two most common mutations that predict favorable efficacy of EGFR tyrosine kinase inhibitors (TKIs) in patients with non-small cell lung cancer (NSCLC). 28352061

2018

dbSNP: rs121434568
rs121434568
0.800 GeneticVariation BEFREE Identification of a Novel Somatic Mutation Leading to Allele Dropout for EGFR L858R Genotyping in Non-Small Cell Lung Cancer. 28357677

2018

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE The vast majority of the BRAF V600E mutations were found in cerebral metastases of malignant melanomas and carcinomas (29/135, 22 %), with false-positive staining found in four breast cancer cases and two non-small-cell lung carcinoma (NSCLC) samples. 27350555

2017

dbSNP: rs121434568
rs121434568
0.800 GeneticVariation BEFREE In patients with epidermal growth factor receptor (EGFR)-mutated, advanced, non-small cell lung cancer (NSCLC), common gefitinib-sensitive EGFR mutations that predict a greater response to therapy include the exon 19 deletion and L858R point mutation. 28168310

2017

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Treatment of V600E BRAF-mutated NSCLC with BRAF inhibitor monotherapy demonstrated encouraging antitumor activity. 26301799

2016

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Among 2690 patients with genotyped NSCLC during the study period, BRAF mutations were identified in 80 (3%) cases, consisting of V600E substitution in 42 (53%) cases; non-V600E mutation were observed in 38 (48%) cases. 26711930

2016

dbSNP: rs121434568
rs121434568
0.800 GeneticVariation BEFREE Efficacy of EGFR tyrosine kinase inhibitors in patients with EGFR-mutated non-small cell lung cancer except both exon 19 deletion and exon 21 L858R: a retrospective analysis in Korea. 25498243

2016

dbSNP: rs121434568
rs121434568
0.800 GeneticVariation BEFREE The estimated prevalence of sensitizing EGFR mutations (exon 19 del, exon 21 L858R) in an unselected samples of newly diagnosed aNSCLC patients in Spain (all histologies) is consistent with previous published data in Caucasian patients. 25766256

2016

dbSNP: rs121434568
rs121434568
0.800 GeneticVariation BEFREE Accumulating data shows that exon 19 deletions and L858R, both activating epidermal growth factor receptor mutations in non-small-cell lung cancers (NSCLCs), are just two different entities in terms of prognosis and treatment response to tyrosine kinase inhibitors (TKIs). 26461059

2016

dbSNP: rs121434568
rs121434568
0.800 GeneticVariation BEFREE In particular, a number of EGFR mutants that demonstrate ligand-independent signaling are common in non-small cell lung cancer (NSCLC), including kinase domain mutations L858R (also called L834R) and exon 19 deletions (e.g., ΔL747-P753insS), which collectively make up nearly 90% of mutations in NSCLC. 26337388

2016

dbSNP: rs121434568
rs121434568
0.800 GeneticVariation BEFREE In non-small cell lung cancer (NSCLC), the association between common EGFR mutations (Del EX19/L858R) with EGFR tyrosine kinase inhibitors (EGFR-TKIs) has been well established. 25558790

2016

dbSNP: rs121434568
rs121434568
0.800 GeneticVariation BEFREE therascreen(®) EGFR RGQ PCR Kit is a real-time polymerase chain reaction test kit for the qualitative detection of exon 19 deletions and L858R mutation of the human EGFR gene in formalin-fixed paraffin-embedded non-small cell lung cancer (NSCLC) tissue. 26891729

2016

dbSNP: rs121434568
rs121434568
0.800 GeneticVariation BEFREE On July 13, 2015, the FDA approved gefitinib (Iressa; AstraZeneca UK Limited) for the treatment of patients with metastatic non-small cell lung cancer (NSCLC) whose tumors have EGFR exon 19 deletions or exon 21 (L858R) substitution mutations as detected by an FDA-approved test. 26980062

2016

dbSNP: rs121434568
rs121434568
0.800 GeneticVariation BEFREE Ibrutinib selectively and irreversibly targets EGFR (L858R, Del19) mutant but is moderately resistant to EGFR (T790M) mutant NSCLC Cells. 26375053

2016

dbSNP: rs121434568
rs121434568
0.800 GeneticVariation BEFREE We hypothesized that plasma-based EGFR mutation analysis for NSCLC may be feasible for monitoring treatment response to EGFR TKIs and also predict drug resistance.Clinically relevant mutations including exon 19 deletion (ex19del), L858R and T790M were analyzed using droplet digital PCR (ddPCR) in longitudinally collected plasma samples (n = 367) from 81 NSCLC patients treated with EGFR TKI. 26755650

2016

dbSNP: rs121434568
rs121434568
0.800 GeneticVariation BEFREE Here, we report a case of an advanced chemotherapy-resistant NSCLC, harboring a novel HER3(V855A) somatic mutation homologous to the EGFR(L858R)activating mutation. 26689995

2016

dbSNP: rs121434568
rs121434568
0.800 GeneticVariation BEFREE Pretreatment EGFR T790M mutation is more likely to coexist with L858R mutation than with exon 19 deletions in NSCLC. 26973206

2016

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE We tested two different options to enhance the efficacy of vemurafenib (BRAF V600E inhibitor) in BRAF mutated NSCLC. 25706985

2015

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Somatic BRAF mutations have been reported in 1-4% of non-small cell lung cancer (NSCLC), primarily in adenocarcinomas with the BRAF (V600E) mutation in about 50% of the cases. 24888229

2015

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Results of early-phase clinical trials and case reports demonstrate responses in V600E-mutant non-small-cell lung cancer, thyroid cancer, and hairy cell leukemia. 24955706

2015

dbSNP: rs121434568
rs121434568
0.800 GeneticVariation BEFREE Patients with exon 19 deletion were associated with longer progression-free survival compared to those with L858R mutation after first-line EGFR-TKIs for advanced non-small cell lung cancer: a meta-analysis. 25222496

2015

dbSNP: rs121434568
rs121434568
0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2015

dbSNP: rs121434568
rs121434568
0.800 GeneticVariation BEFREE The first-generation epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs), gefitinib and erlotinib, are effective as first-line treatment of advanced nonsmall cell lung cancer (NSCLC) harboring activating EGFR mutations (deletions in exon 19 and exon 21 L858R mutation). 25611025

2015