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 Together, our study represents a first approach to the separation of essential molecular consequences from noise generated by the EWS-FLI1 gene rearrangement in ESFT. 17163154 2006
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 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 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 GeneticVariation disease BEFREE The genetic hallmark of ESFT is the presence of the t(11;22)(q24;q12), which creates the EWS/FLI1 fusion gene and results in the expression of a chimeric protein. 10888417 2000
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE High CD99 expression levels and rearrangements of the EWS gene with ETS transcription factor genes characterize the Ewing's sarcoma family of tumors (ESFT). 16314831 2006
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
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE The translocation t(11;22)(q24;q12) is the most common and leads to the formation of the EWS-FLI1 fusion protein, which contributes to ESFT pathogenesis by modulating the expression of target genes. 16096383 2005
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE The EWS/FLI1 translocations were detected in 7/8 (87.5%) ESFTs cases, whereas non of 8 cPNET cases were detected with this translocation. 21267687 2011
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE We retrospectively monitored tumor contamination in stem cell harvests from patients with Ewing family of tumors (EFT) all harboring the specific translocation EWS-FLI-1 that characterize these tumors. 15049010 2004
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE Pathologic studies revealed an Ewing sarcoma/peripheral primitive neuroectodermal tumor (EWS/pPNET) with typical features including periodic acid Schiff positive diastase sensitive cytoplasmic substance; strong membranous pattern of immunoreactivity for CD99, and a reciprocal translocation of t(11;22)(q24;q12) that was demonstrated by fluorescent in situ hybridization (FISH). 16196395 2005
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 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 GeneticVariation disease BEFREE This is the first study in India with quantitative information about the types of EWS-FLI 1 translocations present in Ewing's family of tumours in south Indian patients. 16052075 2005
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 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 GeneticVariation disease BEFREE In the other case, a variety of molecular studies did not reveal a translocation involving the EWS gene but this tumour, on the balance of probability, is still considered to represent a neoplasm in the EFTs. 17557870 2007
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE Here we report on cryptic exons found in the chimeric RNA of three EFT with different EWS-FLI1 fusions. 10493837 1999
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 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 More than 90% of all Ewing's Sarcoma Family of Tumors (ESFT) exhibit specific chromosomal rearrangements between the EWS gene on chromosome 22 and various members of the ETS gene family of transcription factors. 20473914 2011
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE The cytogenetic hallmark of the Ewing family of tumors is t(11,22)(q24;q12) in its simple, complex or variant forms and/or its molecular equivalent EWS/FLI, EWS/ERG rearrangement. 9049824 1997
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 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 Ewing sarcoma family of tumors research has benefited from new target discovery and enhanced biologic understanding of the EWS-FLI1 fusion protein. 15659957 2005