Source: ALL
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 Here, we report the case of a 72-year-old, never-smoker female diagnosed with multiple metastatic lung adenocarcinoma (cT2aN2M1) harboring EGFR mutations in exon 21 (L858R) of the primary lesion. 30022837

2018
dbSNP: rs1057519848
rs1057519848
EGFR
0.030 GeneticVariation BEFREE Here, we report the case of a 72-year-old, never-smoker female diagnosed with multiple metastatic lung adenocarcinoma (cT2aN2M1) harboring EGFR mutations in exon 21 (L858R) of the primary lesion. 30022837

2018
dbSNP: rs121434568
rs121434568
EGFR
0.030 GeneticVariation BEFREE Here, we report the case of a 72-year-old, never-smoker female diagnosed with multiple metastatic lung adenocarcinoma (cT2aN2M1) harboring EGFR mutations in exon 21 (L858R) of the primary lesion. 30022837

2018
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.030 GeneticVariation BEFREE Transabdominal hysterectomy and bilateral salpingo-oophorectomy showed solitary intramyometrial metastatic lung adenocarcinoma with a second-site T790M gatekeeper mutation in exon 20 of the EGFR gene. 29094453

2018
dbSNP: rs1057519847
rs1057519847
EGFR
0.030 GeneticVariation BEFREE Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib. 24835218

2014
dbSNP: rs1057519847
rs1057519847
EGFR
0.030 GeneticVariation BEFREE A patient with metastatic lung adenocarcinoma harboring concurrent EGFR L858R, EGFR germline T790M, and PIK3CA mutations: the challenge of interpreting results of comprehensive mutational testing in lung cancer. 24453288

2014
dbSNP: rs1057519848
rs1057519848
EGFR
0.030 GeneticVariation BEFREE A patient with metastatic lung adenocarcinoma harboring concurrent EGFR L858R, EGFR germline T790M, and PIK3CA mutations: the challenge of interpreting results of comprehensive mutational testing in lung cancer. 24453288

2014
dbSNP: rs1057519848
rs1057519848
EGFR
0.030 GeneticVariation BEFREE Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib. 24835218

2014
dbSNP: rs121434568
rs121434568
EGFR
0.030 GeneticVariation BEFREE Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib. 24835218

2014
dbSNP: rs121434568
rs121434568
EGFR
0.030 GeneticVariation BEFREE A patient with metastatic lung adenocarcinoma harboring concurrent EGFR L858R, EGFR germline T790M, and PIK3CA mutations: the challenge of interpreting results of comprehensive mutational testing in lung cancer. 24453288

2014
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.030 GeneticVariation BEFREE Genetic testing revealed two additional EGFR T790M germline carriers, one of which was subsequently diagnosed with metastatic lung adenocarcinoma. 24736080

2014
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.030 GeneticVariation BEFREE In this article we present a case of a patient suffering from a metastatic lung adenocarcinoma with an activating mutation on diagnosis, initially responding to treatment with erlotinib, who subsequently developed a secondary resistance due to acquiring the T790M mutation in exon 20 of the EGFR gene. 20678850

2011
dbSNP: rs1131692238
rs1131692238
CDK12
0.010 GeneticVariation BEFREE Quantitative Mass Spectrometry to Interrogate Proteomic Heterogeneity in Metastatic Lung Adenocarcinoma and Validate a Novel Somatic Mutation CDK12-G879V. 30617155

2019
dbSNP: rs730882008
rs730882008
TP53
0.010 GeneticVariation BEFREE The third patient, a 62-year-old female with metastatic lung adenocarcinoma, had allelic p.P278S (GOF) and p.R283L (non-GOF) variants at frequencies of 61% but with null staining for p53. 29666004

2018
dbSNP: rs2070600
rs2070600
AGER
0.010 GeneticVariation BEFREE The <i>AGER</i> rs2070600 polymorphism was independently associated with systemic inflammation and poor prognosis in patients with metastatic lung adenocarcinoma. 29212235

2017
dbSNP: rs1057519816
rs1057519816
ERBB2
0.010 GeneticVariation BEFREE Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib. 24835218

2014
dbSNP: rs372043866
rs372043866
ERBB2
0.010 GeneticVariation BEFREE Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib. 24835218

2014
dbSNP: rs1057519720
rs1057519720
BRAF
0.010 GeneticVariation BEFREE Here, we report the case of a patient with metastatic lung adenocarcinoma with BRAF G469L mutation refractory to vemurafenib. 24035431

2013