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: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 GeneticVariation disease BEFREE Loss of heterozygosity (LOH) for chromosome arms 9p, 10p, 10q, and 17p and amplification of the epidermal growth factor receptor (EGFR) gene have been identified as frequent genetic changes in malignant astrocytomas. 7513547 1994
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 GeneticVariation disease BEFREE These data demonstrate that EGFR alterations are frequent events in astrocytic gliomas and are largely restricted to glioblastomas. 8814167 1996
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 GeneticVariation disease BEFREE NGS data obtained in a retrospective analysis of 121 gliomas allowed for their molecular classification into distinct biological groups, including (i) isocitrate dehydrogenase gene (IDH) 1 or 2 mutant astrocytic gliomas with frequent α-thalassemia/mental retardation syndrome X-linked (ATRX) and tumor protein p53 (TP53) gene mutations, (ii) IDH mutant oligodendroglial tumors with 1p/19q codeletion, telomerase reverse transcriptase (TERT) promoter mutation and frequent Drosophila homolog of capicua (CIC) gene mutation, as well as (iii) IDH wildtype glioblastomas with frequent TERT promoter mutation, phosphatase and tensin homolog (PTEN) mutation and/or epidermal growth factor receptor (EGFR) amplification. 26919320 2017
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 GeneticVariation disease BEFREE In contrast, about 50% of the high-grade tumor samples analyzed included abnormalities at two or more loci, with a recurrent association of EGFR amplification and LOH for chromosome 10; this association was evident in 26% of the high-grade astrocytomas. 8174086 1994
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 GeneticVariation disease BEFREE EGFR overexpression is the most frequent and important molecular event in the development of astrocytic gliomas, and the P13K signaling pathway is one of the most important downstream pathways of EGFR. 16700623 2006
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 GeneticVariation disease BEFREE Molecular analysis of the erbB gene family calmodulin-binding and calmodulin-like domains in astrocytic gliomas. 15492843 2004
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 GeneticVariation disease LHGDN In particular, high-grade astrocytomas (that is, AAs and GBMs) had elevated fractions of tumor cells with polysomy of chromosome 7 and the EGFR locus and monosomy of chromosome 10 and the PTEN locus. 18240930 2008
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 GeneticVariation disease BEFREE In particular, high-grade astrocytomas (that is, AAs and GBMs) had elevated fractions of tumor cells with polysomy of chromosome 7 and the EGFR locus and monosomy of chromosome 10 and the PTEN locus. 18240930 2008
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 GeneticVariation disease BEFREE Molecular analysis of the EGFR gene in astrocytic gliomas: mRNA expression, quantitative-PCR analysis of non-homogeneous gene amplification and DNA sequence alterations. 16008822 2005
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 GeneticVariation disease BEFREE Amplification and mutation of the epidermal growth factor receptor (EGFR) is common in astrocytoma. 15580296 2005
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 GeneticVariation disease BEFREE No small cell astrocytomas had 1p/19q codeletions, whereas EGFR amplification and 10q deletions were present in 69% and 97% of small cell astrocytomas, respectively. 15470710 2004
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 GeneticVariation disease LHGDN Concurrent EGFR amplification and TP-53 mutation in glioblastomas. 17907599 2007
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 GeneticVariation disease BEFREE Our findings suggest that modulation of the EGFR c.2073A>T polymorphism could play a role in future therapeutic approaches to astrocytoma. 18949739 2009
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 Biomarker disease BEFREE In this study, we investigated the activation status of these 3 signaling molecules as well as wild-type (EGFRwt) and mutant (EGFRvIII) EGFR in 82 malignant astrocytic gliomas (55 glioblastomas and 27 anaplastic astrocytomas) using immunohistochemistry. 17146292 2006
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 Biomarker disease BEFREE EGFR gene amplification occurred in astrocytomas, oligodendrogliomas, ependymomas and glioblastomas. 8568531 1995
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 Biomarker disease BEFREE Stable expression of activated Ki-Ras does not constitutively activate the mitogen-activated protein kinase pathway but attenuates epidermal growth factor receptor activation in human astrocytoma cells. 9863009 1999
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 Biomarker disease BEFREE IDH-wild-type (wt) infiltrating astrocytomas are mostly primary GBMs and are characterized by EGFR, PTEN, TP53, NF1, RB1, PDGFRA, and CDKN2A/B alterations, TERT-p mutations, and characteristic copy number alterations including gains of chromosome 7 and losses of 10. 29521646 2018
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 Biomarker disease BEFREE Epidermal growth factor receptor (EGFR) amplification and PTEN loss are two common genetic alterations seen in GBM but not in lower-grade astrocytomas that could be responsible for TF up-regulation. 19276385 2009
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 Biomarker disease BEFREE However, EGFR amplification, which is usually observed in approximately 40% and 15% of adult grade 4 and grade 3 astrocytomas, respectively, was not detected in any member of this series. 10632344 1999
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 Biomarker disease BEFREE In addition, de novo high grade pediatric astrocytomas lack amplification of the EGFR gene compared with EGFR amplification in one-third of adult glioblastomas. 10764044 2000
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 Biomarker disease BEFREE Cytoplasmic accumulation of EGFR protein was detected in 75% of astrocytomas, and 21% of the astrocytomas showed nuclear localization (p=0.003). 24170555 2014
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 Biomarker disease BEFREE Amplified, overexpressed and rearranged epidermal growth factor receptor gene in a human astrocytoma cell line. 2994648 1985
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 Biomarker disease BEFREE EGFR intragenic loss and gene amplification in astrocytic gliomas. 16364761 2006
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 Biomarker disease BEFREE Moreover, we found two genetic/clinical correlations that must be evaluated to understand their impact in the clinical setting: i) how is PTEN deletion a favorable prognostic factor in GBM IDH wildtype and an unfavorable prognostic factor in astrocytoma IDH wildtype and ii) how EGFR amplification is an independent and strong factor of response to radiotherapy. 31623593 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 Biomarker disease BEFREE We observed EGFR gene amplification in astrocytomas and anaplastic astrocytomas with approximately the same incidence as in glioblastoma multiforme (33%), although large amplifications were only seen in glioblastoma multiforme. 1311022 1992