Gene: EGFR ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913230
rs121913230
EGFR ; EGFR-AS1
A 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913431
rs121913431
EGFR ; EGFR-AS1
A 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs1057519847
rs1057519847
EGFR
0.040 GeneticVariation BEFREE EGFR mutations (ex19del and L858R) were detected in 1759/8716 (20.2 %) adenocarcinomas, 28/669 (4.2 %) squamous cell carcinomas (SCC) and 8/119 (6.7 %) large cell carcinomas. 27259329

2016
dbSNP: rs1057519848
rs1057519848
EGFR
0.040 GeneticVariation BEFREE EGFR mutations (ex19del and L858R) were detected in 1759/8716 (20.2 %) adenocarcinomas, 28/669 (4.2 %) squamous cell carcinomas (SCC) and 8/119 (6.7 %) large cell carcinomas. 27259329

2016
dbSNP: rs121434568
rs121434568
EGFR
0.040 GeneticVariation BEFREE EGFR mutations (ex19del and L858R) were detected in 1759/8716 (20.2 %) adenocarcinomas, 28/669 (4.2 %) squamous cell carcinomas (SCC) and 8/119 (6.7 %) large cell carcinomas. 27259329

2016
dbSNP: rs1057519847
rs1057519847
EGFR
0.040 GeneticVariation BEFREE Twenty-six patients were enrolled, all of whom were diagnosed with adenocarcinoma with EGFR mutations (19del: 16, L858R: 10) except one (squamous cell carcinoma with 19del). 24369725

2013
dbSNP: rs1057519847
rs1057519847
EGFR
0.040 GeneticVariation BEFREE Thirty-three of 249 patients with SQC (13.3%) had EGFR mutations, including exon 19 deletion (19 of 33 patients, 58%), L858R point mutation in exon 21 (12 of 33, 36%), and G719S point mutation in exon 18 (2 of 33, 6%). 23242440

2013
dbSNP: rs1057519847
rs1057519847
EGFR
0.040 GeneticVariation BEFREE Some of these EGFR-mutated PDXs do not respond to erlotinib: LU1868 containing L858R/T790M mutations, and LU0858 having L858R mutation as well as c-MET gene amplification, both squamous cell carcinoma (SCC). 22948846

2013
dbSNP: rs1057519848
rs1057519848
EGFR
0.040 GeneticVariation BEFREE Twenty-six patients were enrolled, all of whom were diagnosed with adenocarcinoma with EGFR mutations (19del: 16, L858R: 10) except one (squamous cell carcinoma with 19del). 24369725

2013
dbSNP: rs1057519848
rs1057519848
EGFR
0.040 GeneticVariation BEFREE Thirty-three of 249 patients with SQC (13.3%) had EGFR mutations, including exon 19 deletion (19 of 33 patients, 58%), L858R point mutation in exon 21 (12 of 33, 36%), and G719S point mutation in exon 18 (2 of 33, 6%). 23242440

2013
dbSNP: rs1057519848
rs1057519848
EGFR
0.040 GeneticVariation BEFREE Some of these EGFR-mutated PDXs do not respond to erlotinib: LU1868 containing L858R/T790M mutations, and LU0858 having L858R mutation as well as c-MET gene amplification, both squamous cell carcinoma (SCC). 22948846

2013
dbSNP: rs121434568
rs121434568
EGFR
0.040 GeneticVariation BEFREE Twenty-six patients were enrolled, all of whom were diagnosed with adenocarcinoma with EGFR mutations (19del: 16, L858R: 10) except one (squamous cell carcinoma with 19del). 24369725

2013
dbSNP: rs121434568
rs121434568
EGFR
0.040 GeneticVariation BEFREE Some of these EGFR-mutated PDXs do not respond to erlotinib: LU1868 containing L858R/T790M mutations, and LU0858 having L858R mutation as well as c-MET gene amplification, both squamous cell carcinoma (SCC). 22948846

2013
dbSNP: rs121434568
rs121434568
EGFR
0.040 GeneticVariation BEFREE Thirty-three of 249 patients with SQC (13.3%) had EGFR mutations, including exon 19 deletion (19 of 33 patients, 58%), L858R point mutation in exon 21 (12 of 33, 36%), and G719S point mutation in exon 18 (2 of 33, 6%). 23242440

2013
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.030 GeneticVariation BEFREE Squamous Cell Carcinoma "Transformation" Concurrent with Secondary T790M Mutation in Resistant EGFR-Mutated Adenocarcinomas. 26746366

2016
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.030 GeneticVariation BEFREE Exon 20 T790M point mutation (T790M) was detected in 3 squamous carcinomas and 3 adenocarcinomas and exon 20 insertion mutation (20-ins) was detected in 2 patients with adenocarcinoma. 24351833

2013
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.030 GeneticVariation BEFREE We analyzed 147 NSCLC tissues [70 adenocarcinomas (AD), 62 squamous cell carcinomas (SQ), 12 large cell carcinomas (LC), and three adenosquamous carcinomas] that had not been exposed to the TKI therapies, and found 12 (8.2%; 12/147) EGFR T790M mutation in eight AD (11.4%), three SQ (4.8%), and one LC (8.3%) by the PNA-clamping PCR. 21635547

2011
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
0.010 GeneticVariation BEFREE Synchronous occurrence of squamous-cell carcinoma "transformation" and EGFR exon 20 S768I mutation as a novel mechanism of resistance in EGFR-mutated lung adenocarcinoma. 28024692

2017
dbSNP: rs397517108
rs397517108
EGFR ; EGFR-AS1
0.010 GeneticVariation BEFREE Synchronous occurrence of squamous-cell carcinoma "transformation" and EGFR exon 20 S768I mutation as a novel mechanism of resistance in EGFR-mutated lung adenocarcinoma. 28024692

2017
dbSNP: rs28929495
rs28929495
EGFR
0.010 GeneticVariation BEFREE Thirty-three of 249 patients with SQC (13.3%) had EGFR mutations, including exon 19 deletion (19 of 33 patients, 58%), L858R point mutation in exon 21 (12 of 33, 36%), and G719S point mutation in exon 18 (2 of 33, 6%). 23242440

2013
dbSNP: rs1389500636
rs1389500636
EGFR
0.010 GeneticVariation BEFREE Common docking domain mutation E322K of the ERK2 gene is infrequent in oral squamous cell carcinomas. 23464422

2012