| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||
|
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 | ||||
|
0.070 | GeneticVariation | disease | BEFREE | Recurrent paediatric supratentorial extraventricular ependymoma associated with genetic mutation at exon 4 of p53 gene. | 18695856 | 2008 | ||||
|
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 | ||||
|
0.070 | GeneticVariation | disease | BEFREE | MDM2 gene amplification was found in one ependymoma harbouring wild-type p53. | 10231401 | 1999 | ||||
|
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 | ||||
|
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 |