Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE 133 (66.5%) ESFT displayed one of the above EWSR1-ETS translocations. 27180056 2016
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 Biomarker disease BEFREE Ewing sarcoma family of tumors share recurrent translocations that fuse EWS from 22q12 to five different members of transcription factors namely FLI-1, ERG, ETV1, E1AF and FEV. 10949935 2000
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 Biomarker disease BEFREE Ewing sarcoma family of tumors research has benefited from new target discovery and enhanced biologic understanding of the EWS-FLI1 fusion protein. 15659957 2005
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 AlteredExpression disease BEFREE Tumors of the Ewing family are characterized by chromosomal translocations that yield chimeric transcription factors, such as EWS/FLI1, which regulate the expression of specific genes that contribute to the malignant phenotype. 17438102 2007
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE Ewing sarcoma family of tumors (ESFTs) are characterized by the t(11;22)(q24;q12) translocation that generates the Ewing sarcoma breakpoint region 1 and Friend leukemia virus integration 1 (EWS-FLI1) fusion transcription factor responsible for the highly malignant phenotype of this tumor. 21653923 2011
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 AlteredExpression disease BEFREE Ewing's sarcoma family of tumors (EFT) is characterized by the presence of chromosomal translocations leading to the expression of oncogenic transcription factors such as, in the majority of cases, EWS/FLI1. 22323082 2012
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE Ewing sarcoma/peripheral primitive neuroectodermal tumor (EWS/pPNET) and other tumors with EWS gene rearrangements encompass a malignant and intermediate neoplasm with a broad anatomic distribution and a wide age range but a predilection for soft tissue in children, adolescents, and young adults. 22420726 2012
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE Ewing's sarcoma family of tumors (EFT) contain reciprocal translocations, of which approximately 90% occur between the long arm of chromosomes 11 and 22,t(11;22)(q24;q12) resulting in the formation of chimeric proteins generated by a fusion of the EWS and FLI-1 genes. 9049825 1997
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE EWS gene rearrangements, present in essentially 100% of Ewing's Sarcoma/peripheral primitive neuroectodermal tumor, were evaluated by FISH on frozen sections (FS) of tumor biopsies from 10 patients, plus a negative control, and in seven other malignant neoplasms of childhood. 10078922 1999
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 Biomarker disease BEFREE EWS-FLI1 fusion protein up-regulates critical genes in neural crest development and is responsible for the observed phenotype of Ewing's family of tumors. 15930281 2005
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 Biomarker disease BEFREE EWS/FLI1 inhibition results in a novel adaptive response and suggests that targeting the IL6/STAT3 signaling pathway may increase the efficacy of ESFT therapies. 25092916 2014
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 Biomarker disease BEFREE EWS-erg and EWS-Fli-1, which are involved in greater than 95% of Ewing family of tumors, were shown to function as transcriptional activators. 9178886 1997
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 Biomarker disease BEFREE All cases of ESFT were confirmed to have a rearranged EWS gene. 16721801 2006
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 Biomarker disease BEFREE An origin in the head and neck and the presence of the typical EWS/FLI1, in conjunction with an opportunity for immediate treatment, may predict a relatively better prognosis for EFT in our case. 25755803 2015
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE As a result of the t(11;22)(q24;q12) chromosomal translocation characterizing the Ewing family of tumors (ET), the amino terminal portion of EWS, an RNA binding protein of unknown function, is fused to the DNA-binding domain of the ets transcription factor Fli1. 9704926 1998
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 Biomarker disease BEFREE As a result, it was not until the discovery that these tumors share a common underlying molecular pathogenesis (chromosomal translocations involving the EWS gene and one of several members of the ETS family of transcription factors) that significant advances in the diagnosis and therapy of ESFT became possible. 18088234 2008
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE Chromosomal translocation t(11;22)(q24:q12) results in the formation of EWS/FLI1 gene fusion, which is detected in approximately 90% of tumors of the Ewing family. 29581854 2018
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE Cytopathological findings of primary pulmonary Ewing family of tumors with EWSR1 translocation: A case report. 27766786 2016
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 Biomarker disease BEFREE Detection of EWS-FLI-1 fusion in Ewing's sarcoma/peripheral primitive neuroectodermal tumor by fluorescence in situ hybridization using formalin-fixed paraffin-embedded tissue. 10088552 1999
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE Detection of EWSR1 translocations - particularly t(11;22)(q24;q12) - is of great value in the differential diagnosis of the Ewing family of tumors. 20513536 2010
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 Biomarker disease BEFREE Endogenous RHA was identified in a protein complex with EWS-FLI1 in ESFT cell lines. 16740692 2006
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 AlteredExpression disease BEFREE Ewing's Sarcoma Oncogene (ews) on chromosome 22q12 is encoding a ubiquitously expressed RNA-binding protein (EWS) with unknown function that is target of tumor-specific chromosomal translocations in Ewing's sarcoma family of tumors. 25688366 2015
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 Biomarker disease BEFREE Experiments using ESFT cell lines or animal xenograft models have proven that EWS-FLI1 is required for tumor survival. 16556028 2005
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE First, we analyzed the expression of CAV1 by immunostaining a tissue microarray containing 43 paraffin-embedded ESFT tumors with known EWS translocations. 21106507 2010
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE Fluorescence in situ hybridization (FISH) indicated a rearrangement of the EWS region on chromosome 22, which is highly specific for Ewing's sarcoma and PNET, which are referred to as the Ewing's sarcoma family of tumors (EFT). 17610475 2007