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: C0152013
Disease:
Adenocarcinoma of lung (disorder)
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: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE Expert consensus has defined minimum requirements for routine testing and identification of epidermal growth factor (EGFR) mutations (15% of tumors harbor EGFR exon 19 deletions or exon 21 L858R substitutions) and anaplastic lymphoma kinase (ALK) rearrangements (5% of tumors) in advanced lung adenocarcinomas (ACs). 26620497 2016
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE Our study suggested the intratumoral heterogeneity of EGFR-activating mutations in lung adenocarcinoma confirmed on the single-cell level, which might be associated with EGFR-TKIs response in lung adenocarcinoma patients harboring the EGFR L858R mutation. 31014278 2019
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE Positive EGFR mutation status is a favorable prognostic factor in patients with surgically resected lung adenocarcinomas; however, EGFR mutation subtype (exon 21 L858R mutation or exon 19 deletion) exhibits no prognostic impact. 28826599 2017
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE In conclusion, the immunostaining with EGFR del E746-A750 and L858R mutation antibodies is a reliable screening method with high specificity and sensitivity for identifying the EGFR mutation in both resected and biopsied lung adenocarcinomas. 23465272 2013
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE ctDNA of EGFR-TKI sensitizing mutations (mEGFR), L858R substitution and Exon 19 deletion (E19d) mutation, was evaluated using droplet digital PCR (ddPCR) in 81 patients with lung adenocarcinoma which harbored mEGFR in the corresponding tumor tissues. 31647198 2019
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE Epidermal growth factor receptor mutation analysis revealed that the exon 21 L858R activating mutation was present in both the original lung adenocarcinoma and the metastatic SCLC. 20837450 2010
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE Compare the complete (CR) and partial response (PR) rates, overall survival (OS), and progression-free survival (PFS) in Hispanic patients with lung adenocarcinoma treated with erlotinib with EGFR mutations (L858R or exon 19 deletion [Del19]) with and without concomitant EGFRamp. 30284706 2018
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE Of 1127 patients with advanced lung adenocarcinoma harboring EGFR 19 del or L858R mutations, 532 received EGFR-TKI treatment and were included in this study. 27001083 2016
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE Thirty-three patients with recurrent postoperative EGFR-mutant lung adenocarcinoma (exon 19 deletion in 16, L858R in 15, G719C in 2 patients) treated with gefitinib were studied. 29767258 2018
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE IHC with the novel mutation-specific antibody could be used as a screening method to assess the EGFR L858R mutation status in primary lung adenocarcinoma. 25286755 2015
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE The present study describes the case of a 48-year-old man who was diagnosed with lung adenocarcinoma with an epidermal growth factor receptor (EGFR) 21 L858R mutation. 29552210 2018
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE EGFR-L858R mutant enhances lung adenocarcinoma cell invasive ability and promotes malignant pleural effusion formation through activation of the CXCL12-CXCR4 pathway. 26338423 2015
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE E19del and L858R, which are representative subtypes of mEGFR(+) lung adenocarcinoma, differ in terms of mutational spectrum, as the E19del-subgroup has a lower mutation burden and a higher Ti/Tv ratio than the SNV-subgroup. 30522449 2018
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE The left and right lower lobe lung adenocarcinomas contained EGFR gene mutations: an L858R point mutation in exon 21 in the left lesion and a deletion mutation in exon 19 in the right lesion. 30453894 2018
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE A simple and rapid method to detect the epidermal growth factor receptor hot spot mutation L858R in lung adenocarcinoma was developed based on principles similar to the universal heteroduplex generator technology. 16931592 2006
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE Clinicopathologic information was analyzed and EGFR mutation results were performed in initial biopsy samples.Seven patients showed transformation from ADC to SCLC, of which 6 patients were 19 del EGFR mutation, only 1 patient is L858R mutations. 30896637 2019
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE We describe a case of a 49-year-old man with lung adenocarcinoma harboring L858R point mutation at the exon 21 of the epidermal growth factor receptor (EGFR). 27488410 2016
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE p14(ARF) inhibits the growth of lung adenocarcinoma cells harbouring an EGFR L858R mutation by activating a STAT3-dependent pro-apoptotic signalling pathway. 22450744 2013
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE Case report of three EGFR TKI naïve lung adenocarcinoma containing double EGFR mutations (L858R/T790M or Exon 19 Deletion/T790M); Comparing genetic information and histology. 29887244 2018
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE Novel EGFR mutation-specific antibodies for lung adenocarcinoma: highly specific but not sensitive detection of an E746_A750 deletion in exon 19 and an L858R mutation in exon 21 by immunohistochemistry. 24412618 2014
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE And then, 59 patients with advanced LAC harboring EGFR exon 19 deletions(del 19) or exon 21 point mutation(L858R) mutations received first-line treatment of gefitinib or erlotinib, the efficacy of treatment, and the progression-free survival (PFS) of these patients were recorded. 24297623 2014
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE Herein, we report a case of 2 synchronous lung adenocarcinomas composed of 2 distinct pathological subtypes with different EGFR mutations: homozygous deletion in exon 19 in the papillary subtype of adenocarcinoma and a point mutation of L858R in exon 21 in the tubular adenocarcinoma. 18186961 2007
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE We aimed to identify the discriminating capacity of immunohistochemical (IHC) scoring to detect L858R and E746-A750 deletion mutation in lung adenocarcinoma patients and predict EGFR TKIs response. 21858063 2011
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE She was being treated with gefitinib for lung adenocarcinoma positive for the epidermal growth factor receptor (EGFR) mutation L858R, and had multiple bone metastases. 26045851 2015