Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913444
rs121913444
EGFR
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
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
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
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
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
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
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
A 0.750 CausalMutation CLINVAR Epidermal growth factor receptor in relation to tumor development: EGFR gene and cancer. 19922469

2010
dbSNP: rs121913444
rs121913444
EGFR
A 0.750 CausalMutation CLINVAR EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. 15118125

2004
dbSNP: rs121913444
rs121913444
EGFR
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
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