EGFR, epidermal growth factor receptor, 1956

N. diseases: 1394; N. variants: 183
Disease: Glioblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 CausalMutation disease CGI
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 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
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 Biomarker disease BEFREE Moreover, the presence of 15 cases of glioblastoma with loss of chromosome 10 but without EGFR gene amplification may further imply that the loss of a tumor suppressor gene (or genes) on chromosome 10 precedes EGFR gene amplification in glioblastoma tumorigenesis. 1320666 1992
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 AlteredExpression disease BEFREE Our findings suggest that the amplification and/or overexpression either of EGFR or of the alpha PDGFR along with the coordinate overexpression of the beta PDGFR can contribute to the malignant phenotype of distinct subsets of human glioblastoma. 1322795 1992
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 Biomarker disease BEFREE The loss of sequences on chromosome 10 and the deletions of 9p (that is loss of tumor suppressor genes on these locations), and epidermal growth factor receptor gene amplification, have been proposed as sequential abnormalities participating in glioblastoma tumorigenesis. 1336685 1992
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 Biomarker disease BEFREE Particularly salient are the following: (1) gene amplification is related to increasing grade of human glioma malignancy and occurs in approximately 40% of the most common and most malignant variety of glioma, glioblastoma multiforme (GBM), (2) by far the most commonly amplified gene in glioblastomas is the epidermal growth factor receptor (EGFR) gene, which is amplified in about one third of GBMs, (3) a small percentage of GBMs amplify N-myc or the novel sequence gli, (4) the EGFR gene is rearranged in at least half of gliomas in which it is amplified, and (5) EGFR gene rearrangement results in external domain deletions that yield truncated EGF receptors. 1374522 1992
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 Biomarker disease BEFREE The Ki-67 LI was higher in the glioblastoma group with EGFR gene amplification (8 tumours, median value of Ki-67 LI 4.2, range 0.4-24.6) than in those without EGFR gene amplification (12 tumours, median value of Ki-67 LI 0.8, range 0.2-11.8) (0.05 p less than 0.1). 1414519 1992
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 Biomarker 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: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 Biomarker disease BEFREE The selective EGFR gene amplification in human glioblastomas suggests its potential role in the progression of some of these tumours. 1776845 1992
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 GeneticVariation disease BEFREE More than one-half (62.5%) of the glioblastomas with amplified EGFR genes also showed coamplification of rearranged EGFR genes and concomitant expression of aberrant mRNA species. 2009534 1991
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 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: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 Biomarker disease BEFREE Here we present the sequence across a splice junction of aberrant epidermal growth factor receptor transcripts derived from corresponding and uniquely rearranged genes that are coamplified and coexpressed with non-rearranged epidermal growth factor receptor genes in six primary human glioblastomas. 2236070 1990
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 AlteredExpression disease BEFREE Increased expression of the epidermal growth factor receptor has been noted in many types of tumors and is associated with gene amplification in several including epidermoid carcinoma, lung carcinoma, breast carcinoma and glioblastoma. 2294252 1990
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 Biomarker disease BEFREE However, the case with amplification of the erbB1 oncogene represented 1 of 2 cases of glioblastoma multiforme we studied, which suggests that pediatric glioblastoma multiforme may have a similar frequency of erbB1 oncogene amplification to glioblastomas seen in adults. 2334901 1990
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 AlteredExpression disease BEFREE The authors explored the relationship between EGF-R gene expression and glioblastoma cell growth in vitro and in vivo and found that this level of EGF-R gene expression did not correlate with tumor cell growth either in soft agar or in the nude mouse. 2738645 1989
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 PosttranslationalModification disease BEFREE Selective amplification of the cytoplasmic domain of the epidermal growth factor receptor gene in glioblastoma multiforme. 2834047 1988
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 Biomarker disease BEFREE Overexpression of N-ras oncogene and epidermal growth factor receptor gene in human glioblastomas. 2908920 1989
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 Biomarker disease BEFREE Gene amplification and rearrangements are discussed through review of recent work on the N-myc gene in neuroblastoma and the epidermal growth factor receptor (EGFR) gene in glioblastoma. 3059215 1988
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 Biomarker disease BEFREE Amplified gene for the epidermal growth factor receptor in a human glioblastoma cell line encodes an enzymatically inactive protein. 3263568 1988
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 AlteredExpression disease BEFREE In view of the similarity to the activated viral and cellular erbB genes in the avian system, these mutated and overexpressed EGF receptors might play a role in the onset or development of human glioblastoma cells. 3380099 1988
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 GeneticVariation disease BEFREE One such example is epidermal growth factor receptor gene amplification and alteration in association with tumors histologically classified as glioblastoma multiforme. 7596505 1995
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 GeneticVariation disease BEFREE In 2 of the glioblastomas with EGFR gene amplification, a rearrangement of the gene affecting the extracellular domain of the receptor was identified and DNA sequence analyses revealed an identical deletion-rearrangement of 801 base pairs between exons 2 to 7, resulting in an in-frame fusion of exons 1 and 8. 7622287 1995
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 Biomarker disease BEFREE A common theme in glioblastoma is the amplification of genes that code for growth factor receptors of the protein-tyrosine kinase family (epidermal growth factor receptor, platelet-derived growth factor receptor-alpha, met). 7654823 1995
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 Biomarker disease BEFREE With this experimental approach we were able to identify an amplified EGFR gene in 13 specimens including 2 from recurrent glioblastomas in the same patients. 7671460 1995
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 AlteredExpression disease BEFREE Amplification and differential expression of members of the erbB-gene family in human glioblastoma. 7760096 1994