rs397517132, EGFR

N. diseases: 48
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
melanoma
CUI: C0025202
Disease: melanoma
0.100 GeneticVariation BEFREE The US Food and Drug Administration approved a liquid biopsy test for EGFR-activating mutations in patients with non-small-cell lung cancer as a companion diagnostic for therapy selection. ctDNA also allows for the identification of mutations selected by treatment such as EGFR T790M in non-small-cell lung cancer. ctDNA can also detect mutations such as KRAS G12V in colorectal cancer and BRAF V600E/V600K in melanoma. 30883505 2019
melanoma
CUI: C0025202
Disease: melanoma
0.100 GeneticVariation BEFREE Accordingly, we evaluated the phenotypical and molecular changes of isogeneic human V600E BRAF-mutant melanoma cell line pairs pre- and post-treatment with vemurafenib. 31514305 2019
melanoma
CUI: C0025202
Disease: melanoma
0.100 GeneticVariation BEFREE Sixty five consecutive formalin-fixed paraffin-embedded (FFPE) melanoma samples were prospectively tested for BRAF mutations with the VE1 (anti-BRAF V600E) antibody and for both BRAF and NRAS mutations with the Idylla NRAS-BRAF-EGFR S492R Mutation Assay cartridges. 31415669 2019
melanoma
CUI: C0025202
Disease: melanoma
0.100 GeneticVariation BEFREE Here we assessed the role of urokinase type plasminogen activator receptor (uPAR) as a potentially valuable biomarker in the acquisition of BRAF-I resistance in V600E mutant melanoma cells. 30611716 2019
melanoma
CUI: C0025202
Disease: melanoma
0.100 GeneticVariation BEFREE Orthogonal partial least squares (O-PLS) predicted vemurafenib sensitivity with greater accuracy in both melanoma and non-melanoma BRAF-V600E cell lines than other leading machine learning methods, specifically Random Forests, Support Vector Regression (linear and quadratic kernels) and LASSO-penalized regression. 31672130 2019
melanoma
CUI: C0025202
Disease: melanoma
0.100 GeneticVariation BEFREE The US FDA approved a liquid biopsy test for EGFR activating mutations in patients with non-small cell lung cancer (NSCLC) as a companion diagnostic for therapy selection. ctDNA also allows for the identification of mutations selected by treatment such as EGFR T790M in NSCLC. ctDNA can also detect mutations such as KRAS G12V in colorectal cancer and BRAF V600E/V600K in melanoma. 30335711 2018
melanoma
CUI: C0025202
Disease: melanoma
0.100 GeneticVariation BEFREE RNA-seq data was downloaded from the Gene Expression Omnibus (GEO) database for pre- and post-treatment tumor samples from three melanoma patients with EGFR-activating BRAF V600E mutations, and from The Cancer Genome Atlas (TCGA) melanoma database for tumor and non-tumor samples from patients with the BRAF V600E mutation and unknown EGFR activation status. 29387237 2018
melanoma
CUI: C0025202
Disease: melanoma
0.100 GeneticVariation BEFREE The BRAF(V600E) mutation confers constitutive kinase activity and accounts for >90% of BRAF mutations in melanoma. 27436149 2016
melanoma
CUI: C0025202
Disease: melanoma
0.100 GeneticVariation BEFREE The oncogenic mutation of BRAF(V600E) has been found in approximately 8% of all human cancers, including more than 60% of melanoma and 10% of colorectal cancers. 26810733 2016
melanoma
CUI: C0025202
Disease: melanoma
0.100 GeneticVariation BEFREE Nowhere is this more apparent than in BRAF (V600E)-mutated melanomas where initial drug response can be striking and yet relapse is commonplace. 25789707 2015
melanoma
CUI: C0025202
Disease: melanoma
0.100 GeneticVariation BEFREE A combined inhibition strategy targeting BRAF together with multiple erbB family kinases is potentially beneficial for treating BRAF V600E mutant melanoma. 24709886 2014
melanoma
CUI: C0025202
Disease: melanoma
0.100 GeneticVariation BEFREE This study was to identify BRAF V600E-associated oncogenic pathways that predict resistance of BRAF-mutated melanoma to BRAF/MEK inhibitors. 24200969 2014
melanoma
CUI: C0025202
Disease: melanoma
0.100 GeneticVariation BEFREE Our results support the hypothesis that the EGFR/B-Raf(V600E) dual inhibition might be a tractable strategy to overcome the intrinsic and acquired resistance of melanoma and/or colorectal cancers against the current B-Raf(V600E) inhibitor therapy. 24588073 2014
melanoma
CUI: C0025202
Disease: melanoma
0.100 GeneticVariation BEFREE Reversible and adaptive resistance to BRAF(V600E) inhibition in melanoma. 24670642 2014
melanoma
CUI: C0025202
Disease: melanoma
0.100 GeneticVariation BEFREE In conclusion, primary malignant melanoma of sinonasal tract is not associated with BRAF V600E mutations. 23664541 2013
melanoma
CUI: C0025202
Disease: melanoma
0.100 GeneticVariation BEFREE Inhibition of the BRAF(V600E) oncoprotein by the small-molecule drug PLX4032 (vemurafenib) is highly effective in the treatment of melanoma. 22281684 2012
melanoma
CUI: C0025202
Disease: melanoma
0.100 GeneticVariation BEFREE The incidence of BRAF mutations other than V600E is significantly higher in lung cancer than in melanoma. 21483012 2011