Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Front-line epidermal growth factor receptor tyrosine kinase inhibitor (EGFR TKI) therapy is the standard of care for lung cancer patients with sensitising EGFR mutations (exon 19 deletion or L858R mutation). 29462253 2018
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE The posterior fossa, the anatomic "watershed areas," and the gray-white matter junction were confirmed to be more commonly affected by lung cancer brain metastases, and brain metastases with epidermal growth factor receptor (EGFR) L858R mutation occurred more often in the caudate, cerebellum, and temporal lobe than those with exon 19 deletion of EGFR. 26519739 2016
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE We detected the epidermal growth factor receptor L858R, MSH2 R929* and telomerase reverse transcriptase amplification in the lung cancer specimen; CDH1 c.1320+1G>T mutation in the gastric cancer (GC) specimen; and MLH1 c.1896+5G>A germline mutation in the lung and GC specimens by 450 cancer-related gene mutations detection using next-generation sequencing technology. 31207149 2019
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE A patient with metastatic lung adenocarcinoma harboring concurrent EGFR L858R, EGFR germline T790M, and PIK3CA mutations: the challenge of interpreting results of comprehensive mutational testing in lung cancer. 24453288 2014
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Approximately 50% of lung cancer patients with epidermal growth factor receptor (EGFR)-mutations (deletion in exon 19 or L858R) who develop acquired resistance to EGFR tyrosine kinase inhibitors (TKIs) reportedly carry a secondary EGFR T790M mutation. 22899358 2012
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Unusual synchronous double primary treatment-naïve lung adenocarcinoma harboring T790M and L858R mutations in early-stage lung cancer. 31426797 2019
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Serial cfDNA assessment of response and resistance to EGFR-TKI for patients with EGFR-L858R mutant lung cancer from a prospective clinical trial. 27619632 2016
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE The EGFR mutation status, especially L858R mutation might be correlated with the clinico-pathological features related to good response to gefitinib, such as gender, smoking history, and pathological subtypes of Japanese lung cancers. 16890322 2006
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE EGFR exon 21 L858R as an acquired resistance mechanism to nivolumab in a lung cancer patient originally driver gene-negative. 30810279 2019
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE A total of 50 lung cancer patients' tumor tissues were analyzed, and two frequent mutations associated with therapeutic efficiency of lung cancer were identified, including deletion of exon 19 (8/50) and L858R point mutation in exon 21 (12/50). 22901298 2012
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE The discovery of epidermal growth factor receptor tyrosine kinase inhibitor (EGFR TKI) has led to unprecedented clinical response in a subset of lung cancer patients carrying the sensitizing EGFR mutations (L858R or exon 19 deletion). 28774798 2017
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Twenty resected primary lung cancers known to harbor EGFR L858R were analyzed. 30268468 2018
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Identification of a novel HER3 activating mutation homologous to EGFR-L858R in lung cancer. 26689995 2016
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Using the LightCycler PCR assay, the EGFR L858R mutation status might correlate with gender, pathologic subtypes, and gefitinib sensitivity of lung cancers. 15837743 2005
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Diagnosis of EGFR exon21 L858R point mutation as lung cancer biomarker by electrochemical DNA biosensor based on reduced graphene oxide /functionalized ordered mesoporous carbon/Ni-oxytetracycline metallopolymer nanoparticles modified pencil graphite electrode. 29753165 2018
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Electrochemical molecularly bioimprinted siloxane biosensor on the basis of core/shell silver nanoparticles/EGFR exon 21 L858R point mutant gene/siloxane film for ultra-sensing of Gemcitabine as a lung cancer chemotherapy medication. 31550632 2019
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Targeted therapy for these lung cancers has been established based on evidence regarding mainly common mutations; that is, exon 19 deletions (Del19) and L858R. 27323238 2016
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Twenty resected primary lung cancers known to harbor EGFR L858R were analyzed. 30268468 2018
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE To further access a physiological role of MALT1-dependent NF-κB activation in EGFR-driven tumor progression, we generated triple-transgenic mouse model (tetO-EGFR(L858R); CCSP-rtTA; Malt1(-/-)), in which mutant EGFR-driven lung cancer was developed in the absence of MALT1 expression. 25982276 2016
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Discovery of (R,E)-N-(7-Chloro-1-(1-[4-(dimethylamino)but-2-enoyl]azepan-3-yl)-1H-benzo[d]imidazol-2-yl)-2-methylisonicotinamide (EGF816), a Novel, Potent, and WT Sparing Covalent Inhibitor of Oncogenic (L858R, ex19del) and Resistant (T790M) EGFR Mutants for the Treatment of EGFR Mutant Non-Small-Cell Lung Cancers. 27433829 2016
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE A patient with metastatic lung adenocarcinoma harboring concurrent EGFR L858R, EGFR germline T790M, and PIK3CA mutations: the challenge of interpreting results of comprehensive mutational testing in lung cancer. 24453288 2014
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Diagnosis of EGFR exon21 L858R point mutation as lung cancer biomarker by electrochemical DNA biosensor based on reduced graphene oxide /functionalized ordered mesoporous carbon/Ni-oxytetracycline metallopolymer nanoparticles modified pencil graphite electrode. 29753165 2018
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Next, we examined the role of RhoB in lung cancer progression in transgenic mice that express inducible EGFR(L858R) crossed with Rhob null mice. 25320360 2014
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE We identified a reference range for EGFR L858R and exon 19 deletions in specimens from KRAS-mutant lung cancer, allowing identification of candidate thresholds with high sensitivity and 100% specificity. 24429876 2014
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Denaturing capillary electrophoresis for automated detection of L858R mutation in exon 21 of the epidermal growth factor receptor gene in prediction of the outcome of lung cancer therapy. 20574956 2010