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 We aim to develop a digital PCR-based method for the quantitative detection of the two common epidermal growth factor receptor (EGFR) mutations (in-frame deletion at exon 19 and L858R at exon 21) in the plasma and tumor tissues of patients suffering from non-small cell lung cancers. 19276259 2009
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE We aim to develop a digital PCR-based method for the quantitative detection of the two common epidermal growth factor receptor (EGFR) mutations (in-frame deletion at exon 19 and L858R at exon 21) in the plasma and tumor tissues of patients suffering from non-small cell lung cancers. 19276259 2009
dbSNP: rs121434568
rs121434568
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE We aim to develop a digital PCR-based method for the quantitative detection of the two common epidermal growth factor receptor (EGFR) mutations (in-frame deletion at exon 19 and L858R at exon 21) in the plasma and tumor tissues of patients suffering from non-small cell lung cancers. 19276259 2009
dbSNP: rs121434569
rs121434569
Entrez Id: 1956;100507500
Gene Symbol: EGFR;EGFR-AS1
EGFR;EGFR-AS1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Clinical resistance to epidermal growth factor receptor (EGFR) inhibition in lung cancer has been linked to the emergence of the EGFR T790M resistance mutation or amplification of MET. 19351834 2009
dbSNP: rs757699239
rs757699239
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE We describe how an uncharacterized lung cancer mutation in this JM activation domain (V665M) constitutively activates EGFR by augmenting its capacity to act as an acceptor in the asymmetric dimer. 19560417 2009
dbSNP: rs104886026
rs104886026
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Recently, to identify genetic factors that modify lung cancer risk, CHRNA5 non-synonymous variant amino acid position 398 (D398N) was identified. 19577767 2010
dbSNP: rs1276184054
rs1276184054
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Four novel mutations (E709K, V765G, Ins770G, and G1022S) and one mutation well-known in lung cancer (L858R) were identified in six HNSCC samples (7%), but we could not find any mutations in the extracellular domain of EGFR, such as EGFRvIII, in this study. 19726454 2009
dbSNP: rs727504256
rs727504256
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE E709K and Ins770G as well as L858R appear to be functional mutations based on the use of Ba/F3 cells. 19726454 2009
dbSNP: rs776375114
rs776375114
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Four novel mutations (E709K, V765G, Ins770G, and G1022S) and one mutation well-known in lung cancer (L858R) were identified in six HNSCC samples (7%), but we could not find any mutations in the extracellular domain of EGFR, such as EGFRvIII, in this study. 19726454 2009
dbSNP: rs121434569
rs121434569
Entrez Id: 1956;100507500
Gene Symbol: EGFR;EGFR-AS1
EGFR;EGFR-AS1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE It will be clinically valuable to investigate the involvement of HGF-MET-mediated signaling in de novo and acquired resistance to irreversible EGFR-TKIs in lung cancer harboring T790M mutation in EGFR. 20008840 2010
dbSNP: rs121434569
rs121434569
Entrez Id: 1956;100507500
Gene Symbol: EGFR;EGFR-AS1
EGFR;EGFR-AS1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE We used five series of lung cancers: 47 non-small cell lung cancers (NSCLC) to evaluate various types of EGFR mutations, a consecutive series of 238 NSCLCs to study the sensitivity and specificity, 11 NSCLCs with both EGFR mutation and amplification to examine the spatial distribution, 32 patients treated with gefitinib to compare clinical responses, and 15 NSCLCs to explore changes associated with acquired T790M mutation. 20570926 2010
dbSNP: rs1057519847
rs1057519847
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
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
dbSNP: rs121434568
rs121434568
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
dbSNP: rs121434569
rs121434569
Entrez Id: 1956;100507500
Gene Symbol: EGFR;EGFR-AS1
EGFR;EGFR-AS1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Reciprocal and complementary role of MET amplification and EGFR T790M mutation in acquired resistance to kinase inhibitors in lung cancer. 21062933 2010
dbSNP: rs121434569
rs121434569
Entrez Id: 1956;100507500
Gene Symbol: EGFR;EGFR-AS1
EGFR;EGFR-AS1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Acquired resistance to EGFR tyrosine kinase inhibitors in EGFR-mutant lung cancer: distinct natural history of patients with tumors harboring the T790M mutation. 21135146 2011
dbSNP: rs121434569
rs121434569
Entrez Id: 1956;100507500
Gene Symbol: EGFR;EGFR-AS1
EGFR;EGFR-AS1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE We found that EMT developed in a lung cancer patient who had an acquired resistance to erlotinib while there were no known resistant mechanisms such as T790M and MET amplification. 21168239 2011
dbSNP: rs121434569
rs121434569
Entrez Id: 1956;100507500
Gene Symbol: EGFR;EGFR-AS1
EGFR;EGFR-AS1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Rebiopsy of lung cancer patients with acquired resistance to EGFR inhibitors and enhanced detection of the T790M mutation using a locked nucleic acid-based assay. 21248300 2011
dbSNP: rs770443325
rs770443325
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE However, the frequency of the HIF1A C1772T variant allele was significantly higher in lung cancer patients with TP53 LOH (P = 0.015). 21435097 2011
dbSNP: rs397517132
rs397517132
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.060 GeneticVariation BEFREE The incidence of BRAF mutations other than V600E is significantly higher in lung cancer than in melanoma. 21483012 2011
dbSNP: rs121434569
rs121434569
Entrez Id: 1956;100507500
Gene Symbol: EGFR;EGFR-AS1
EGFR;EGFR-AS1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Detection of low-level EGFR T790M mutation in lung cancer tissues. 21635547 2011
dbSNP: rs121434569
rs121434569
Entrez Id: 1956;100507500
Gene Symbol: EGFR;EGFR-AS1
EGFR;EGFR-AS1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE These findings indicate promising therapeutic applications of miR-7-expressing plasmids against EGFR oncogene-addicted lung cancers including T790M resistance by liposomal delivery. 21712475 2011
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE The loop-hybrid mobility shift assay (LH-MSA) was previously developed for the rapid detection of the EGFR mutation L858R for predicting clinical responses to gefitinib in lung cancer. 21741959 2011
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE The loop-hybrid mobility shift assay (LH-MSA) was previously developed for the rapid detection of the EGFR mutation L858R for predicting clinical responses to gefitinib in lung cancer. 21741959 2011
dbSNP: rs121434568
rs121434568
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE The loop-hybrid mobility shift assay (LH-MSA) was previously developed for the rapid detection of the EGFR mutation L858R for predicting clinical responses to gefitinib in lung cancer. 21741959 2011