Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
0.040 GeneticVariation BEFREE EGFR mutations (ex19del and L858R) were detected in 1759/8716 (20.2 %) adenocarcinomas, 28/669 (4.2 %) squamous cell carcinomas (SCC) and 8/119 (6.7 %) large cell carcinomas. 27259329 2016
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
0.040 GeneticVariation BEFREE Twenty-six patients were enrolled, all of whom were diagnosed with adenocarcinoma with EGFR mutations (19del: 16, L858R: 10) except one (squamous cell carcinoma with 19del). 24369725 2013
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
0.040 GeneticVariation BEFREE Some of these EGFR-mutated PDXs do not respond to erlotinib: LU1868 containing L858R/T790M mutations, and LU0858 having L858R mutation as well as c-MET gene amplification, both squamous cell carcinoma (SCC). 22948846 2013
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
0.040 GeneticVariation BEFREE Thirty-three of 249 patients with SQC (13.3%) had EGFR mutations, including exon 19 deletion (19 of 33 patients, 58%), L858R point mutation in exon 21 (12 of 33, 36%), and G719S point mutation in exon 18 (2 of 33, 6%). 23242440 2013