Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28929495
rs28929495
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.750 GeneticVariation BEFREE Moreover, TAS-121 displayed antitumor activity in SW48 (<i>EGFR</i> G719S) and NCI-H1975 (<i>EGFR</i> L858R/T790M) xenograft models, and achieved an objective response in patients with NSCLC with <i>EGFR</i> mutations including G719A mutation. 30872380

2019
dbSNP: rs28929495
rs28929495
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.750 GeneticVariation BEFREE Herein, we discuss the case of a patient with advanced NSCLC harboring both the uncommon EGFR G719S and the KRAS G12C mutations, who was treated for 9 years with erlotinib achieving a long-term survival. 29748019

2018
dbSNP: rs28929495
rs28929495
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.750 GeneticVariation BEFREE Tonsillar metastasis of nonsmall cell lung cancer with G719S mutation in exon 18: A case report. 29245278

2017
dbSNP: rs28929495
rs28929495
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.750 GeneticVariation BEFREE Consistently, afatinib was clinically effective for the treatment of NSCLC harboring G719C and S768I mutations of EGFR. 27794398

2016
dbSNP: rs28929495
rs28929495
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.750 GeneticVariation BEFREE The non-small cell lung cancer (NSCLC)-associated EGFR mutants, L858R and G719S, are constitutively active and oncogenic. 22349823

2013