Gene: EGFR ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs1057519861
rs1057519861
EGFR ; EGFR-AS1
0.030 GeneticVariation BEFREE The combination of a MEK inhibitor with AZD9291 restores the sensitivity of AZD9291-resistant cells including those with C797S mutation to undergo apoptosis and growth regression <i>in vitro</i> and <i>in vivo</i><b>Conclusions:</b> Modulation of MEK/ERK-dependent Bim and Mcl-1 degradation critically mediates sensitivity and resistance of EGFR-mutant NSCLC cells to AZD9291 and hence is an effective strategy to overcome acquired resistance to AZD9291.<i>Clin Cancer Res; 23(21); 6567-79.©2017 AACR</i>. 28765329

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
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: 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: rs121913444
rs121913444
EGFR
0.020 GeneticVariation BEFREE Two frequent cancer-driver mutation sequences (EGFR-L861Q, NRAS-Q61K) were tested. 29069899

2017
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: rs13222385
rs13222385
EGFR ; EGFR-AS1
0.010 GeneticVariation BEFREE SNPs in cancer genes including rs2159359 SNP in NME1 and rs13222385 in EGFR may stratify risk in EEC and are prioritized for further investigation. 30827726

2019
dbSNP: rs139429793
rs139429793
EGFR
0.010 GeneticVariation BEFREE KRAS E63K is curated in the Catalogue of Somatic Mutations in Cancer database. 31289513

2019
dbSNP: rs748491031
rs748491031
EGFR
0.010 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: rs556324078
rs556324078
EGFR
0.010 GeneticVariation BEFREE Moreover, we showed that the D717V, G800D, G800R, L840F, G843D, S925F, R1022Q, R1032Q, and S1100F VEGFR2 mutants promote tumor growth in mice.<b>Conclusions:</b> Our study supports WES-cfDNA as a powerful platform for portraying the somatic mutation landscape of cancer and discovery of new resistance mechanisms to cancer therapies. 29588308

2018
dbSNP: rs140516819
rs140516819
EGFR
0.010 GeneticVariation BEFREE Using NGS, the following mutations were detected: nonsense mutations in four tumor suppressor genes [APC R1114X (molecular argument that the cancer was a primary tumor of colon), TP53 R213X, RB1 E137X and FBWX7 R393X & S282X], mutations in three receptor tyrosine kinases (RET A919V of high transforming activity, EGFR E114K and FLT3 L601I) well known as oncogenes. 28730258

2017
dbSNP: rs35918369
rs35918369
EGFR
0.010 GeneticVariation BEFREE Using NGS, the following mutations were detected: nonsense mutations in four tumor suppressor genes [APC R1114X (molecular argument that the cancer was a primary tumor of colon), TP53 R213X, RB1 E137X and FBWX7 R393X & S282X], mutations in three receptor tyrosine kinases (RET A919V of high transforming activity, EGFR E114K and FLT3 L601I) well known as oncogenes. 28730258

2017
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: 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: 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: 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