Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 Biochemical analyses of transfected cells and growth inhibition studies with lung cancer cell lines demonstrate that the T790M mutation confers resistance to EGFR mutants usually sensitive to either gefitinib or erlotinib. 15737014 2005
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Using the LightCycler PCR assay, the EGFR L858R mutation status might correlate with gender, pathologic subtypes, and gefitinib sensitivity of lung cancers. 15837743 2005
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Using the LightCycler PCR assay, the EGFR L858R mutation status might correlate with gender, pathologic subtypes, and gefitinib sensitivity of lung cancers. 15837743 2005
dbSNP: rs121434568
rs121434568
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Using the LightCycler PCR assay, the EGFR L858R mutation status might correlate with gender, pathologic subtypes, and gefitinib sensitivity of lung cancers. 15837743 2005
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE EGFR mutations (CTG-->CGG; L858R) were found from 14 of 95 lung cancer patients. 16003726 2006
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE EGFR mutations (CTG-->CGG; L858R) were found from 14 of 95 lung cancer patients. 16003726 2006
dbSNP: rs121434568
rs121434568
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE EGFR mutations (CTG-->CGG; L858R) were found from 14 of 95 lung cancer patients. 16003726 2006
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 Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFR. 16258541 2005
dbSNP: rs397517132
rs397517132
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.060 GeneticVariation BEFREE V599E BRAF mutation was uncommon in Japanese lung cancer. 16376942 2006
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Two weeks after induction with doxycycline, mice that express the EGFR(L858R) allele show diffuse lung cancer highly reminiscent of human bronchioloalveolar carcinoma and later develop interspersed multifocal adenocarcinomas. 16705038 2006
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Two weeks after induction with doxycycline, mice that express the EGFR(L858R) allele show diffuse lung cancer highly reminiscent of human bronchioloalveolar carcinoma and later develop interspersed multifocal adenocarcinomas. 16705038 2006
dbSNP: rs121434568
rs121434568
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Two weeks after induction with doxycycline, mice that express the EGFR(L858R) allele show diffuse lung cancer highly reminiscent of human bronchioloalveolar carcinoma and later develop interspersed multifocal adenocarcinomas. 16705038 2006
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE The EGFR mutation status, especially L858R mutation might be correlated with the clinico-pathological features related to good response to gefitinib, such as gender, smoking history, and pathological subtypes of Japanese lung cancers. 16890322 2006
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE The EGFR mutation status, especially L858R mutation might be correlated with the clinico-pathological features related to good response to gefitinib, such as gender, smoking history, and pathological subtypes of Japanese lung cancers. 16890322 2006
dbSNP: rs121434568
rs121434568
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE The EGFR mutation status, especially L858R mutation might be correlated with the clinico-pathological features related to good response to gefitinib, such as gender, smoking history, and pathological subtypes of Japanese lung cancers. 16890322 2006
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 A secondary mutation, T790M, has been associated with acquired resistance but has not been shown to be sufficient to render EGFR mutant/amplified lung cancers resistant to EGFR inhibitors. 16906227 2006
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 Our observations show that EGFR-T790M provides a proliferative advantage with respect to WT EGFR and suggest that the enhanced kinase activity of this mutant is the basis for rare cases of inherited susceptibility to lung cancer. 17510392 2007
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 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
Entrez Id: 1956;100507500
Gene Symbol: EGFR;EGFR-AS1
EGFR;EGFR-AS1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE HKI-272 is an irreversible EGFR/HER/ErbB inhibitor that has been shown to inhibit the growth of T790M mutant cells in vitro in human lung cancer cell lines and in murine cells transfected with sensitizing EGFR mutations. 17671147 2007
dbSNP: rs377444977
rs377444977
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE The most frequent point mutation (A127T) enhanced lung cancer cell growth, colony formation, focal adhesion formation, and colocalized with Bcl-2 in vitro. 18172305 2008
dbSNP: rs146795390
rs146795390
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.030 GeneticVariation BEFREE These observations suggest that the germline EGFR V843I mutation might have altered EGFR signaling in the multicentric development of adenocarcinoma, bronchoalveolar carcinoma, and atypical adenomatous hyperplasia and also might have had a role in the development of lung cancer in multiple members of her family. 18355544 2008
dbSNP: rs1420841957
rs1420841957
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE EGFR mutation at C-terminal in lung cancers seemed to be extremely rare, however, this D1012H mutation might be a role in EGFR function. 18478265 2008
dbSNP: rs763317
rs763317
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.020 GeneticVariation BEFREE Fourteen tag SNPs distributed in EGFR were selected for genotyping and one SNP 8227G>A (rs763317) located in the intron 1 of EGFR was significantly associated with lung cancer (P=0.009). 19026460 2009
dbSNP: rs1408630981
rs1408630981
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE In this study, we investigated whether the four polymorphisms (-3444C>T, -1985 G>T, I655A A>G and P1170A C>G) of the HER-2 gene are associated with the risk of lung cancer in Korean populations. 19055823 2008
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 The T790M mutation is present in about half of the lung cancer patients with acquired resistance, and reported to act by increasing the affinity of the receptor to adenosine triphosphate, relative to its affinity to TKIs. 19096299 2009