Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434569
rs121434569
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
0.100 GeneticVariation BEFREE EGFR mutations (CTG-->CGG; L858R) were found from 14 of 95 lung cancer patients. 16003726

2006

dbSNP: rs1057519848
rs1057519848
0.100 GeneticVariation BEFREE EGFR mutations (CTG-->CGG; L858R) were found from 14 of 95 lung cancer patients. 16003726

2006

dbSNP: rs121434568
rs121434568
0.100 GeneticVariation BEFREE EGFR mutations (CTG-->CGG; L858R) were found from 14 of 95 lung cancer patients. 16003726

2006

dbSNP: rs1057520037
rs1057520037
C 0.700 GeneticVariation CLINVAR Mutations in the epidermal growth factor receptor and in KRAS are predictive and prognostic indicators in patients with non-small-cell lung cancer treated with chemotherapy alone and in combination with erlotinib. 16043828

2005

dbSNP: rs397517097
rs397517097
C 0.700 GeneticVariation CLINVAR Mutations in the epidermal growth factor receptor and in KRAS are predictive and prognostic indicators in patients with non-small-cell lung cancer treated with chemotherapy alone and in combination with erlotinib. 16043828

2005

dbSNP: rs121434569
rs121434569
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
0.050 GeneticVariation BEFREE V599E BRAF mutation was uncommon in Japanese lung cancer. 16376942

2006

dbSNP: rs1057519847
rs1057519847
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
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
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
0.100 GeneticVariation BEFREE EGFR mutations (CTG; CGG; L858R) were found from 63 of 575 lung cancer patients. 16890322

2006

dbSNP: rs1057519848
rs1057519848
0.100 GeneticVariation BEFREE EGFR mutations (CTG; CGG; L858R) were found from 63 of 575 lung cancer patients. 16890322

2006

dbSNP: rs121434568
rs121434568
0.100 GeneticVariation BEFREE EGFR mutations (CTG; CGG; L858R) were found from 63 of 575 lung cancer patients. 16890322

2006

dbSNP: rs121434569
rs121434569
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
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
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
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
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
0.010 GeneticVariation BEFREE A novel EGFR mutation D1012H and polymorphism at exon 25 in Japanese lung cancer. 18478265

2008

dbSNP: rs763317
rs763317
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
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
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

dbSNP: rs121434569
rs121434569
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
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