Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5970
Gene Symbol: RELA
RELA
0.100 GeneticVariation disease BEFREE The present finding indicates that the TP53 p.R337H germline mutation is uncommon in patients with EPN in Brazil and screening of pediatric patients RELA fusion EPN may be informative to better understand the role of TP53 germline mutations in the development and prognosis of these tumors. 31728854 2020
Entrez Id: 5970
Gene Symbol: RELA
RELA
0.100 Biomarker disease BEFREE By DNA methylation profiling, tumors with MN1 or RELA rearrangement clustered with high-grade neuroepithelial tumor with MN1 alteration (HGNET-MN1) and RELA-fusion ependymoma, respectively. 30876455 2019
Entrez Id: 5970
Gene Symbol: RELA
RELA
0.100 Biomarker disease BEFREE Ependymoma with RELA fusion has been defined as a novel entity of the revised World Health Organization 2016 classification of tumors of the central nervous system (CNS), characterized by fusion transcripts of the RELA gene and consequent pathological activation of the NFkB pathway. 30325077 2019
Entrez Id: 5970
Gene Symbol: RELA
RELA
0.100 Biomarker disease BEFREE Molecular characteristics are also important for the diagnosis of several other CNS tumors, such as RELA fusion-positive subtype of ependymoma, atypical teratoid rhabdoid tumor (AT/RT), embryonal tumor with multilayered rosettes, and solitary fibrous tumor/hemangiopericytoma. 31124566 2019
Entrez Id: 5970
Gene Symbol: RELA
RELA
0.100 Biomarker disease BEFREE Role of Immunohistochemistry in the Identification of Supratentorial C11ORF95-RELA Fused Ependymoma in Routine Neuropathology. 29266023 2019
Entrez Id: 5970
Gene Symbol: RELA
RELA
0.100 Biomarker disease BEFREE We describe a novel RELA-fusion composed by a chimeric transcript C11orf95-LOC-RELA in a supratentorial WHO grade II EPN occurring in a 4-year-old child. 30631904 2019
Entrez Id: 5970
Gene Symbol: RELA
RELA
0.100 Biomarker disease BEFREE Furthermore, treatment of the RELA-fused EPN cell line with the Notch inhibitors impaired the Notch signaling expression and revealed that Notch axis is not essential for cell proliferation and survival in this setting. 31308481 2019
Entrez Id: 5970
Gene Symbol: RELA
RELA
0.100 GeneticVariation disease BEFREE A De Novo Mouse Model of C11orf95-RELA Fusion-Driven Ependymoma Identifies Driver Functions in Addition to NF-κB. 29949764 2018
Entrez Id: 5970
Gene Symbol: RELA
RELA
0.100 Biomarker disease BEFREE Their model shows RELA-fusion-based de novo ependymoma tumorigenesis in the forebrain derived from neural stem cells. 29949754 2018
Entrez Id: 5970
Gene Symbol: RELA
RELA
0.100 AlteredExpression disease BEFREE Stable knockdown of LDOC1 in EPN cell lines resulted in a significant increase in gene transcription of v-rel avian reticuloendotheliosis viral oncogene homolog A, which correlated to an increase in NF-κB target genes. 28510691 2017
Entrez Id: 5970
Gene Symbol: RELA
RELA
0.100 Biomarker disease BEFREE Array-comparative genomic hybridization showed copy number abnormalities consistent with chromosomal instability without evidence of RELA- or YAP1-fusion-features most often seen in posterior fossa ependymoma group B. 28943417 2017
Entrez Id: 5970
Gene Symbol: RELA
RELA
0.100 Biomarker disease BEFREE Among the p53-positive ependymomas, the vast majority exhibited a RELA fusion leading to the hypothesis that p53 inactivation might be linked to RELA positivity.In order to assess the potential of p53 reactivation through MDM2 inhibition in ependymoma, we evaluated the effects of Actinomycin-D and Nutlin-3 treatment in two preclinical ependymoma models representing the high-risk subtypes PF-EPN-A and ST-EPN-RELA. 27556362 2016
Entrez Id: 5970
Gene Symbol: RELA
RELA
0.100 Biomarker disease BEFREE C11orf95-RELA fusion present in a primary intracranial extra-axial ependymoma: Report of a case with literature review. 27121356 2016
Entrez Id: 5970
Gene Symbol: RELA
RELA
0.100 GeneticVariation disease BEFREE We here describe a case of a sarcoma developing in a patient previously treated with chemotherapy and radiation whose original ependymoma and recurrent sarcoma were both shown to carry the type 1 C11orf95-RELA fusion transcript indicating a monoclonal origin for both tumors. 25388523 2015
Entrez Id: 5970
Gene Symbol: RELA
RELA
0.100 Biomarker disease BEFREE C11orf95-RELA fusion proteins translocated spontaneously to the nucleus to activate NF-κB target genes, and rapidly transformed neural stem cells--the cell of origin of ependymoma--to form these tumours in mice. 24553141 2014
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.070 GeneticVariation disease BEFREE The present finding indicates that the TP53 p.R337H germline mutation is uncommon in patients with EPN in Brazil and screening of pediatric patients RELA fusion EPN may be informative to better understand the role of TP53 germline mutations in the development and prognosis of these tumors. 31728854 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.070 Biomarker disease BEFREE Among the p53-positive ependymomas, the vast majority exhibited a RELA fusion leading to the hypothesis that p53 inactivation might be linked to RELA positivity.In order to assess the potential of p53 reactivation through MDM2 inhibition in ependymoma, we evaluated the effects of Actinomycin-D and Nutlin-3 treatment in two preclinical ependymoma models representing the high-risk subtypes PF-EPN-A and ST-EPN-RELA. 27556362 2016
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.070 GeneticVariation disease BEFREE Recurrent paediatric supratentorial extraventricular ependymoma associated with genetic mutation at exon 4 of p53 gene. 18695856 2008
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.070 GeneticVariation disease BEFREE Primary ependymomas at diagnosis or relapse from 24 children were analyzed for p53 pathway, using a functional assay in yeast, RT-PCR, Western blot analysis, and/or immunohistochemistry for TP53 mutation, p14(ARF) deletion and promoter hypermethylation, MDM2 and PAX5 expression, respectively. p53-mediated response to radiation-induced DNA damage was evaluated using Western blot and flow cytometry analysis in two ependymoma xenograft models, IGREP37 and IGREP83, derived from primary anaplastic childhood ependymomas. 16086408 2006
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.070 GeneticVariation disease BEFREE MDM2 gene amplification was found in one ependymoma harbouring wild-type p53. 10231401 1999
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.070 Biomarker disease BEFREE Chromosomal DNA corresponding to the p53 tumor suppressor gene was amplified by the polymerase chain reaction (PCR) from 31 archival ependymoma specimens. 8699232 1996
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.070 GeneticVariation disease BEFREE Mutations of p53 deserve further investigation to examine their possible role in the oncogenesis and malignant transformation of ependymoma. 8748809 1995
Entrez Id: 4311
Gene Symbol: MME
MME
0.050 Biomarker disease BEFREE The molecular groups showed no significant difference in PFS (4-year estimates: posterior fossa ependymoma group A [PF-EPN-A; 42/54], 71.2% ± 8.3%; supratentorial ependymoma positive for v-rel avian reticuloendotheliosis viral oncogene homolog A [ST-EPN-RELA; 8/54], 83.3% ± 17.0%; and supratentorial ependymoma positive for Yes-associated protein [4/54], 100%, P = 0.22). 30976811 2019
Entrez Id: 4311
Gene Symbol: MME
MME
0.050 Biomarker disease BEFREE Location of the primary tumor was supratentorial in four patients (all supratentorial <i>RELA</i>-fused ependymoma [ST-EPN-RELA]) and within the posterior fossa in five patients (posterior fossa ependymoma type A [PF-EPN-A], <i>n</i> = 4; posterior fossa ependymoma not further classifiable, <i>n</i> = 1), and multifocal in one patient.All four patients with ST-EPN-RELA were alive in first or second complete remission (CR) 7.5-12.3 years after diagnosis. 30850560 2019
Entrez Id: 4311
Gene Symbol: MME
MME
0.050 AlteredExpression disease BEFREE Heterogeneity within the PF-EPN-B ependymoma subgroup. 30019219 2018