rs397517132, EGFR

N. diseases: 48
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.050 GeneticVariation BEFREE Accordingly, the combination of MEK inhibitor with EGFR inhibitor was effective at shrinking tumors in mouse model of BRAF non-V600E mutant lung cancer. 29348459 2018
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.050 GeneticVariation BEFREE The Lung Cancer Mutation Consortium (LCMC) is a multi-institutional effort to identify and treat oncogenic driver events in patients with lung adenocarcinomas.<b>Experimental Design:</b> Sixteen U.S. institutions enrolled 1,367 patients with lung cancer in LCMC2; 904 were deemed eligible and had at least one of 14 cancer-related genes profiled using validated methods including genotyping, massively parallel sequencing, and IHC.<b>Results:</b> The use of targeted therapies in patients with <i>EGFR, ERBB2,</i> or <i>BRAF</i> p.V600E mutations, <i>ALK, ROS1</i>, or <i>RET</i> rearrangements, or <i>MET</i> amplification was associated with a survival increment of 1.5 years compared with those with such mutations not receiving targeted therapy, and 1.0 year compared with those lacking a targetable driver. 29217530 2018
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.050 GeneticVariation BEFREE Success of this design of clinical trials and practice was first demonstrated in EGFR inhibitor trials in lung cancer and has since been incorporated into subsequent targeted therapy trials including ALK-, ROS1-, and BRAF V600E-targeted therapies. 28786099 2017
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.050 GeneticVariation BEFREE The incidence of BRAF mutations other than V600E is significantly higher in lung cancer than in melanoma. 21483012 2011
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.050 GeneticVariation BEFREE V599E BRAF mutation was uncommon in Japanese lung cancer. 16376942 2006