Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397517108
rs397517108
TT 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: rs397517108
rs397517108
TT 0.740 CausalMutation CLINVAR Distinctive activation patterns in constitutively active and gefitinib-sensitive EGFR mutants. 16205628

2006

dbSNP: rs397517108
rs397517108
TT 0.740 CausalMutation CLINVAR Non-responsiveness to gefitinib in a patient with lung adenocarcinoma having rare EGFR mutations S768I and V769L. 17045698

2006

dbSNP: rs397517108
rs397517108
TT 0.740 CausalMutation CLINVAR Lung cancer with epidermal growth factor receptor exon 20 mutations is associated with poor gefitinib treatment response. 18676761

2008

dbSNP: rs397517108
rs397517108
TT 0.740 CausalMutation CLINVAR Functional analysis of epidermal growth factor receptor (EGFR) mutations and potential implications for EGFR targeted therapy. 19147750

2009

dbSNP: rs397517108
rs397517108
TT 0.740 CausalMutation CLINVAR Comparing ICA-based and single-trial topographic ERP analyses. 20422446

2010

dbSNP: rs397517108
rs397517108
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: rs397517108
rs397517108
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: rs397517108
rs397517108
0.740 GeneticVariation BEFREE Consistently, afatinib was clinically effective for the treatment of NSCLC harboring G719C and S768I mutations of EGFR. 27794398

2016

dbSNP: rs397517108
rs397517108
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