Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913444
rs121913444
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.750 GeneticVariation BEFREE The results of the present case support the effectiveness and safety of low-dose afatinib in elderly patients with EGFR L861Q mutation-positive NSCLC. 31779047

2020
dbSNP: rs121913444
rs121913444
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.750 GeneticVariation BEFREE We here present an NSCLC patient found to be positive for double uncommon EGFR mutations (G719X and L861Q) by clinical genomic sequencing analysis of a pleural effusion specimen who showed a durable response to the EGFR-TKI afatinib. 30255614

2018
dbSNP: rs121913444
rs121913444
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.750 GeneticVariation BEFREE EGFR L858M/L861Q mutations in cis were detected in the tumor of a patient with NSCLC. 28088511

2017
dbSNP: rs121913444
rs121913444
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.750 GeneticVariation BEFREE Effectiveness of gefitinib against non-small-cell lung cancer with the uncommon EGFR mutations G719X and L861Q. 24419415

2014
dbSNP: rs121913444
rs121913444
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.750 GeneticVariation BEFREE Epidermal growth factor receptor (EGFR) gene mutations (G719X, exon 19 deletions/insertions, L858R, and L861Q) predict favorable responses to EGFR tyrosine kinase inhibitors (TKIs) in advanced non-small cell lung cancer (NSCLC). 24353160

2013
dbSNP: rs121913444
rs121913444
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		A 0.750 CausalMutation CLINVAR MEK inhibitors reverse resistance in epidermal growth factor receptor mutation lung cancer cells with acquired resistance to gefitinib. 23102728

2013
dbSNP: rs121913444
rs121913444
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		A 0.750 CausalMutation CLINVAR Randomized phase II study of dacomitinib (PF-00299804), an irreversible pan-human epidermal growth factor receptor inhibitor, versus erlotinib in patients with advanced non-small-cell lung cancer. 22753918

2012
dbSNP: rs121913444
rs121913444
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		A 0.750 CausalMutation CLINVAR Epidermal growth factor receptor in relation to tumor development: EGFR gene and cancer. 19922469

2010
dbSNP: rs121913444
rs121913444
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		A 0.750 CausalMutation CLINVAR EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. 15118125

2004
dbSNP: rs121913444
rs121913444
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		A 0.750 CausalMutation CLINVAR Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. 15118073

2004
dbSNP: rs121913444
rs121913444
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		A 0.750 CausalMutation CLINVAR "EGF receptor gene mutations are common in lung cancers from ""never smokers"" and are associated with sensitivity of tumors to gefitinib and erlotinib." 15329413

2004