EGFR, epidermal growth factor receptor, 1956

N. diseases: 1394; N. variants: 183
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11979158
rs11979158
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0017638
Disease:
Glioma
A 0.850 GeneticVariation GWASCAT Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21. 29743610 2018
dbSNP: rs11979158
rs11979158
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0017638
Disease:
Glioma
0.850 GeneticVariation BEFREE In addition, rs11506105 was significantly associated with an increased risk of glioma in both Asians and Caucasians, and rs11979158 decreased the risk of glioma in Caucasians. 29156842 2017
dbSNP: rs11979158
rs11979158
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0017638
Disease:
Glioma
0.850 GeneticVariation BEFREE Additionally, subgroup analysis by stages of glioma found that variation of rs11979158 had stronger relationship with high-grade (OR = 1.32, 95 %CI = 1.19-1.45) than low-grade glioma (OR = 1.12, 95 % CI = 1.03-1.21). 26243184 2016
dbSNP: rs11979158
rs11979158
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0017638
Disease:
Glioma
0.850 GeneticVariation BEFREE Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci influencing glioma risk: rs2736100 (TERT), rs11979158 and rs2252586 (EGFR), rs4295627 (CCDC26), rs4977756 (CDKN2A/CDKN2B), rs498872 (PHLDB1), and rs6010620 (RTEL1). 23161787 2013
dbSNP: rs11979158
rs11979158
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0017638
Disease:
Glioma
0.850 GeneticVariation BEFREE Using these data, we demonstrate two statistically independent associations between glioma and rs11979158 and rs2252586, at 7p11.2 which encompasses the EGFR gene (population-corrected statistics, P(c) = 7.72 × 10(-8) and 2.09 × 10(-8), respectively). 21531791 2011
dbSNP: rs11979158
rs11979158
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0017638
Disease:
Glioma
A 0.850 GeneticVariation GWASCAT Using these data, we demonstrate two statistically independent associations between glioma and rs11979158 and rs2252586, at 7p11.2 which encompasses the EGFR gene (population-corrected statistics, P(c) = 7.72 × 10(-8) and 2.09 × 10(-8), respectively). 21531791 2011
dbSNP: rs11979158
rs11979158
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0017638
Disease:
Glioma
A 0.850 GeneticVariation GWASDB Using these data, we demonstrate two statistically independent associations between glioma and rs11979158 and rs2252586, at 7p11.2 which encompasses the EGFR gene (population-corrected statistics, P(c) = 7.72 × 10(-8) and 2.09 × 10(-8), respectively). 21531791 2011
dbSNP: rs11979158
rs11979158
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0017638
Disease:
Glioma
0.850 GeneticVariation BEFREE Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs2736100, TERT), 8q24.21 (rs4295627, CCDC26), 9p21.3 (rs4977756, CDKN2A-CDKN2B), 20q13.33 (rs6010620, RTEL1), and 11q23.3 (rs498872, PHLDB1), and two loci at 7p11.2 (rs11979158 and rs2252586, EGFR). 21825990 2011
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE In this trial, we randomly assigned 556 patients with previously untreated advanced NSCLC with an <i>EGFR</i> mutation (exon 19 deletion or L858R allele) in a 1:1 ratio to receive either osimertinib (80 mg once daily) or one of two other EGFR-TKIs (gefitinib at a dose of 250 mg once daily or erlotinib at a dose of 150 mg once daily, with patients receiving these drugs combined in a single comparator group). 31751012 2020
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE The MELROSE study, a French multicentric, open label, phase II trial (ClinicalTrials.govNCT03865511) plans to enroll 150 patients with treatment-naive advanced EGFR-mutated (L858R or exon 19 deletion) NSCLC, age ≥ 18 years, with an Eastern Cooperative Oncology Group performance status 0 or 1. 31648999 2020
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE The first generation tyrosine kinase inhibitors targeting L858R mutated EGFR are routinely used to treat non-small cell lung cancer (NSCLC). 30727906 2020
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Targeting L858R/T790M/C797S mutant EGFR is a major challenge in the new-generation EGFR tyrosine kinase inhibitors development for conquering drug resistant NSCLC. 31787359 2020
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Targeting L858R/T790M/C797S mutant EGFR is a major challenge in the new-generation EGFR tyrosine kinase inhibitors development for conquering drug resistant NSCLC. 31787359 2020
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE The MELROSE study, a French multicentric, open label, phase II trial (ClinicalTrials.govNCT03865511) plans to enroll 150 patients with treatment-naive advanced EGFR-mutated (L858R or exon 19 deletion) NSCLC, age ≥ 18 years, with an Eastern Cooperative Oncology Group performance status 0 or 1. 31648999 2020
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE The first generation tyrosine kinase inhibitors targeting L858R mutated EGFR are routinely used to treat non-small cell lung cancer (NSCLC). 30727906 2020
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE In this trial, we randomly assigned 556 patients with previously untreated advanced NSCLC with an <i>EGFR</i> mutation (exon 19 deletion or L858R allele) in a 1:1 ratio to receive either osimertinib (80 mg once daily) or one of two other EGFR-TKIs (gefitinib at a dose of 250 mg once daily or erlotinib at a dose of 150 mg once daily, with patients receiving these drugs combined in a single comparator group). 31751012 2020
dbSNP: rs121434568
rs121434568
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE The MELROSE study, a French multicentric, open label, phase II trial (ClinicalTrials.govNCT03865511) plans to enroll 150 patients with treatment-naive advanced EGFR-mutated (L858R or exon 19 deletion) NSCLC, age ≥ 18 years, with an Eastern Cooperative Oncology Group performance status 0 or 1. 31648999 2020
dbSNP: rs121434568
rs121434568
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Targeting L858R/T790M/C797S mutant EGFR is a major challenge in the new-generation EGFR tyrosine kinase inhibitors development for conquering drug resistant NSCLC. 31787359 2020
dbSNP: rs121434568
rs121434568
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE In this trial, we randomly assigned 556 patients with previously untreated advanced NSCLC with an <i>EGFR</i> mutation (exon 19 deletion or L858R allele) in a 1:1 ratio to receive either osimertinib (80 mg once daily) or one of two other EGFR-TKIs (gefitinib at a dose of 250 mg once daily or erlotinib at a dose of 150 mg once daily, with patients receiving these drugs combined in a single comparator group). 31751012 2020
dbSNP: rs121434568
rs121434568
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE The first generation tyrosine kinase inhibitors targeting L858R mutated EGFR are routinely used to treat non-small cell lung cancer (NSCLC). 30727906 2020
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE L858R point mutation is the most common oncogenic mutation in EGFR tyrosine kinase domain in patients with EGFR-mutated NSCLC. 31116768 2019
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE In the phase III FLAURA study, third-generation epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor (TKI) osimertinib significantly improved progression-free survival (PFS) versus standard-of-care (SoC) EGFR-TKI (gefitinib or erlotinib) in patients with previously untreated EGFR (exon 19 deletion or L858R) mutation-positive advanced non-small cell lung cancer (NSCLC). 30659024 2019
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE The trial was conducted in 17 US academic and community medical centers among 88 patients with EGFR exon 19 deletion or exon 21 L858R mutation based on local testing and stage 4 NSCLC who were eligible for bevacizumab. 31393548 2019
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0007131
Disease:
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: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE We report three cases that were definitively diagnosed as LM from NSCLC with a mutation of epidermal growth factor receptor (<i>EGFR</i>) L858R. 31571928 2019