Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
T 0.740 CausalMutation CLINVAR High frequency of epidermal growth factor receptor mutations with complex patterns in non-small cell lung cancers related to gefitinib responsiveness in Taiwan. 15623594

2004
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
T 0.740 CausalMutation CLINVAR EGFR point mutation in non-small cell lung cancer is occasionally accompanied by a second mutation or amplification. 16863509

2006
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
T 0.740 CausalMutation CLINVAR Distinctive activation patterns in constitutively active and gefitinib-sensitive EGFR mutants. 16205628

2006
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
T 0.740 GeneticVariation CLINVAR EGFR mutants found in non-small cell lung cancer show different levels of sensitivity to suppression of Src: implications in targeting therapy. 17653080

2008
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
T 0.740 GeneticVariation CLINVAR Functional analysis of epidermal growth factor receptor (EGFR) mutations and potential implications for EGFR targeted therapy. 19147750

2009
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
0.740 GeneticVariation BEFREE We reported a case of non-small cell lung cancer harboring a rare epidermal growth factor somatic mutation, codon 768 AGC > ATC in exon 20 (S768I), who showed a good clinical response to gefitinib. 20522446

2010
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
T 0.740 CausalMutation CLINVAR We reported a case of non-small cell lung cancer harboring a rare epidermal growth factor somatic mutation, codon 768 AGC > ATC in exon 20 (S768I), who showed a good clinical response to gefitinib. 20522446

2010
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
T 0.740 CausalMutation CLINVAR Second-line treatments after first-line gefitinib therapy in advanced nonsmall cell lung cancer. 19536777

2010
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
T 0.740 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
0.740 GeneticVariation BEFREE We used a natural language search program to search our electronic medical record system and every EGFR mutation analysis of patients with NSCLC treated at Mayo Clinic that was performed in our Department of Molecular Genetics to identify patients with EGFR S768I mutation. 27211795

2016
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
0.740 GeneticVariation BEFREE Consistently, afatinib was clinically effective for the treatment of NSCLC harboring G719C and S768I mutations of EGFR. 27794398

2016
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
0.740 GeneticVariation BEFREE A female patient with advanced NSCLC with a single S768I mutation achieved effectiveness from afatinib after showing no response to gefitinib. 29731638

2018