Source: BEFREE

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