Gene: EGFR ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.100 GeneticVariation BEFREE While they produce dramatic responses in a subset of patients-primarily those with activating EGFR mutations-remissions are typically limited to several months due to acquired drug resistance, frequently associated with the secondary T790M mutation in EGFR.In this issue of Cancer Cell, Li et al. report that an irreversible EGFR kinase inhibitor, HKI-272, had limited activity in a mouse lung cancer model driven by an EGFR mutant harboring T790M and an activating mutation. 17613432

2007
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.100 GeneticVariation BEFREE The molecular beacon-based approach enabled rapid and sensitive detection of the EGFR mutation (T790M) in NSCLC with in situ fluorescence imaging, which can be directed to determine various treatment options in patients with cancer. 20805561

2010
dbSNP: rs397517132
rs397517132
EGFR
0.070 GeneticVariation BEFREE The aim of the correlative tumour tissue studies was to investigate the relationship between EGFR gene copy numbers, activation of the EGFR pathway, expression and mutation of E-cadherin, V600E BRAF mutation and clinical outcome of patients with gastric and OGJ cancer treated with cetuximab combined with FUFOX. 22152101

2011
dbSNP: rs1050171
rs1050171
EGFR ; EGFR-AS1
0.010 GeneticVariation BEFREE In exon 20, a variant from CAG to CAA at codon 787 (2361G-> A) was identified in 19 patients, which was a genomic variation of EGFR since it was found in both cancer tissue and white blood cells. 22252115

2012
dbSNP: rs987532315
rs987532315
EGFR
0.010 GeneticVariation BEFREE In exon 20, a variant from CAG to CAA at codon 787 (2361G-> A) was identified in 19 patients, which was a genomic variation of EGFR since it was found in both cancer tissue and white blood cells. 22252115

2012
dbSNP: rs1057519847
rs1057519847
EGFR
0.030 GeneticVariation BEFREE The results of cancer tissue specimens were identical to those with existing systems (nucleic acid-locked nucleic acid PCR clamp or cycleave PCR), except for two samples that showed both exon 19 deletions and L858R. 22858585

2012
dbSNP: rs1057519848
rs1057519848
EGFR
0.030 GeneticVariation BEFREE The results of cancer tissue specimens were identical to those with existing systems (nucleic acid-locked nucleic acid PCR clamp or cycleave PCR), except for two samples that showed both exon 19 deletions and L858R. 22858585

2012
dbSNP: rs121434568
rs121434568
EGFR
0.030 GeneticVariation BEFREE The results of cancer tissue specimens were identical to those with existing systems (nucleic acid-locked nucleic acid PCR clamp or cycleave PCR), except for two samples that showed both exon 19 deletions and L858R. 22858585

2012
dbSNP: rs397517132
rs397517132
EGFR
0.070 GeneticVariation BEFREE The BRAF inhibitor vemurafenib has become an important treatment option for melanoma patients, the majority of whom have a BRAF(V600E) mutation driving their malignancy. 23074264

2012
dbSNP: rs397517132
rs397517132
EGFR
0.070 GeneticVariation BEFREE The usefulness of immunohistochemistry (IHC) as a new approach for the detection of BRAF V600E in cancer patients has been recently reported. 23927882

2013
dbSNP: rs121913444
rs121913444
EGFR
0.020 GeneticVariation BEFREE Our studies identify T725M and L861R as rare cancer-associated mutations inasmuch as these mutations increase EGFR activity in the absence of the activating EGF ligand in cell-based assays. 24743239

2014
dbSNP: rs767505234
rs767505234
EGFR
0.010 GeneticVariation BEFREE Our studies identify T725M and L861R as rare cancer-associated mutations inasmuch as these mutations increase EGFR activity in the absence of the activating EGF ligand in cell-based assays. 24743239

2014
dbSNP: rs1057519847
rs1057519847
EGFR
0.030 GeneticVariation BEFREE The purpose of this study was to clarify the relationship between the EGFR-L858R mutation and cancer cell invasion ability and to investigate the molecular mechanisms involved in the formation of MPE. 26338423

2015
dbSNP: rs1057519848
rs1057519848
EGFR
0.030 GeneticVariation BEFREE The purpose of this study was to clarify the relationship between the EGFR-L858R mutation and cancer cell invasion ability and to investigate the molecular mechanisms involved in the formation of MPE. 26338423

2015
dbSNP: rs121434568
rs121434568
EGFR
0.030 GeneticVariation BEFREE The purpose of this study was to clarify the relationship between the EGFR-L858R mutation and cancer cell invasion ability and to investigate the molecular mechanisms involved in the formation of MPE. 26338423

2015
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.100 GeneticVariation BEFREE In two patients, the ctDNA dynamics suggested the presence of cancer cell populations only with the T790M mutation. 26678713

2016
dbSNP: rs397517132
rs397517132
EGFR
0.070 GeneticVariation BEFREE We found that gene mutations for EGFR (P = .02) and ALK (P < .001) were associated with cancer diagnosis at a younger age, and a similar trend existed for ERBB2 (P = .15) and ROS1 (P = .10) but not BRAF V600E (P = .43). 26720421

2016
dbSNP: rs961150162
rs961150162
EGFR
0.010 GeneticVariation BEFREE The DDR2 E655K mutation can play a role in cancer progression by reducing the growth-inhibitory effect of collagen.Clin Cancer Res; 22(14); 3663-71.©2016 AACR. 26826182

2016
dbSNP: rs746763556
rs746763556
EGFR
0.010 GeneticVariation BEFREE Among these impactful variants are rare somatic, clinically actionable variants including EGFR S645C, ARAF S214C and S214F, ERBB2 S418T, and multiple BRAF variants, demonstrating that rare mutations can be functionally important in cancer. 27478040

2016
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.100 GeneticVariation BEFREE The objective responses were observed in NSCLC patients with EGFR T790M mutation.Mol Cancer Ther; 15(11); 2586-97.©2016 AACR. 27573423

2016
dbSNP: rs397517132
rs397517132
EGFR
0.070 GeneticVariation BEFREE In FNA biopsy samples (n=186), immunocytochemical expression of caveolin-1 and BRAF V600E mutation coincided with malignancy. 27818286

2017
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.100 GeneticVariation BEFREE These conjugates exhibited high antiproliferative potency against a number of cancer cell lines, including the epidermal growth factor receptor (EGFR) L858R/T790M mutant cell. 28236592

2017
dbSNP: rs1057519847
rs1057519847
EGFR
0.030 GeneticVariation BEFREE These conjugates exhibited high antiproliferative potency against a number of cancer cell lines, including the epidermal growth factor receptor (EGFR) L858R/T790M mutant cell. 28236592

2017
dbSNP: rs1057519848
rs1057519848
EGFR
0.030 GeneticVariation BEFREE These conjugates exhibited high antiproliferative potency against a number of cancer cell lines, including the epidermal growth factor receptor (EGFR) L858R/T790M mutant cell. 28236592

2017
dbSNP: rs121434568
rs121434568
EGFR
0.030 GeneticVariation BEFREE These conjugates exhibited high antiproliferative potency against a number of cancer cell lines, including the epidermal growth factor receptor (EGFR) L858R/T790M mutant cell. 28236592

2017