rs121434568, EGFR

N. diseases: 73
Disease: Small cell carcinoma of lung ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.030 GeneticVariation BEFREE Seven adenocarcinoma components were EGFR mutated: five exon 19 deletions and two mutations in exon 21 (L833_V834delinsFL and L858R).Four SCLC components were EGFR mutated. 24457237 2013
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.030 GeneticVariation BEFREE Epidermal growth factor receptor mutation analysis revealed that the exon 21 L858R activating mutation was present in both the original lung adenocarcinoma and the metastatic SCLC. 20837450 2010
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.030 GeneticVariation BEFREE In this case, both the SCLC and Ad components shared the same mutation in exon 21 (L858R). 17784875 2007