EGFR, epidermal growth factor receptor, 1956

N. diseases: 1394; N. variants: 183
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE Copy number amplification of the epidermal growth factor receptor gene occurs in intermediate and late-stage tumors whereas loss of heterozygosity for loci on chromosome 10 is restricted to the ultimate stage, glioblastoma multiforme. 2011137 1991
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE Epidermal growth factor receptor variant III (EGFRvIII) is a cancer-specific deletion mutant observed in approximately 25% to 50% of glioblastoma multiforme (GBM) patients. 25931519 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE Locus amplification, gene overexpression, and genetic mutations of epidermal growth factor receptor (EGFR) are hallmarks of GBM that can ectopically activate downstream signaling oncogenic cascades such as PI3K/Akt/mTOR pathway. 24691646 2014
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE In this study we determined whether EGFR amplification and expression of the most common mutation in GBMs (EGFRvIII) is retained at tumor recurrence. 25691693 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE Therefore, on one hand our data confirm a role of driver mutations for copy number alterations (CNAs) included in the GBM genomic-signature (gain of chromosome 7- EGFR gene, loss of chromosome 13- RB1 gene, loss of chromosome 10-PTEN gene); on the other, it is not obvious that the new identified CNAs are passenger mutations, as they may be necessary for tumor progression specific for the individual patient. 23468990 2013
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE We have now detected the 5' and/or 3' alterations in 21 of 32 cases of glioblastoma with EGFR amplification; no genetic alterations have been detected in glioblastomas without EGFR amplification. 1584765 1992
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE Here, through integrated epigenome and transcriptome analyses of cell lines, genotyped clinical samples, and TCGA data, we show that EGFR mutations remodel the activated enhancer landscape of GBM, promoting tumorigenesis through a SOX9 and FOXG1-dependent transcriptional regulatory network in vitro and in vivo. 26455392 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE Signaling by constitutively active NSCLC EGFR mutants or the EGFRvIII mutant in glioblastoma has been studied intensively and the downstream signals are known. 26282175 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE Rindopepimut (CDX-110) is a peptide vaccine that targets epidermal growth factor receptor variant III (EGFRvIII), a tumor-specific epitope expressed in the most common and lethal primary malignant neoplasm of the brain - glioblastoma (GBM). 28274144 2017
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE Although GBM mutations are stably maintained in GBM in vitro models, rapid loss of EGFR gene amplification is a common observation during cell culture. 28934307 2017
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE Epidermal growth factor receptor variant III (EGFRvIII) is the most common and highly oncogenic EGFR mutant in GBM. 24603483 2014
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE Assessment and prognostic significance of the epidermal growth factor receptor vIII mutation in glioblastoma patients treated with concurrent and adjuvant temozolomide radiochemotherapy. 24614983 2014
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE The epidermal growth factor receptor variant III (EGFRvIII) is exclusively expressed on the cell surface in ~50% of glioblastoma multiforme (GBM). 26450624 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE Cytogenetic and molecular genetic studies of glioblastoma multiforme (GBM) have shown that the most frequent alterations are gains of chromosome 7, losses of 9p loci and chromosome 10, and gene amplification, primarily of the epidermal growth factor receptor (EGFR) gene. 11302337 2000
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE The findings of this study indicate a highly invasive phenotype associated with the EGFR<sup>A289V</sup> mutation in glioblastoma, postulating EGFR<sup>A289V</sup> as a molecular marker for responsiveness to therapy with EGFR-targeting antibodies. 29990498 2018
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE Amplification and rearrangements of the epidermal growth factor receptor (EGFR) gene are frequently found in glioblastoma multiforme (GBM). 22797070 2013
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE Genetic profiling efforts have identified the amplification, overexpression, and mutation of the wild-type (wt) epidermal growth factor receptor tyrosine kinase (EGFR) in ≈ 50% of GBM patients. 22964225 2012
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE EVs produced by specific brain tumor cell types may contain the corresponding oncogenic drivers, such as epidermal growth factor receptor variant III (EGFRvIII) in glioblastoma (and hence are often referred to as 'oncosomes'). 26993504 2016
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE EGFR variant III (EGFRvIII) is present in 25%-33% of all patients with GBM and is exclusively expressed on tumor tissue cells. 28649003 2017
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE The most common form of mutant EGFR (EGFRvIII) has been described in several cancers, chiefly glioblastoma. 16951222 2006
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE D2C7-IT is a novel immunotoxin (IT) targeting wild-type epidermal growth factor receptor (EGFRwt) and mutant EGFR variant III (EGFRvIII) proteins in glioblastoma. 31142380 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE In this regard, different genetic alterations and genetic pathways appear to distinguish primary (eg, EGFR amplification) versus secondary (eg, IDH1/2 or TP53 mutation) GBM. 25976245 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE Amplification/overexpression of the epidermal growth factor receptor (EGFR) gene as a signature genetic abnormality of GBM tumors can be a chemoresistance mechanism. 29274334 2018
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE The epidermal growth factor receptor (EGFR) is overexpressed, amplified and mutated in GBM and has been shown to play key and important roles in the proliferation, growth and survival of this tumour. 28349530 2017
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE EGFRvIII is a mutant epidermal growth factor receptor found in glioblastoma, and in carcinoma of the breast, ovary, and lung. 8962138 1996