Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 GeneticVariation disease BEFREE False positive mismatch sign was noted in 28.5% (12/42) Group O tumors, but none of the tumors in Group G. A combination of all three factors: age under 40 years at first diagnosis, a tumor size larger than 6 cm and T2-FLAIR mismatch was highly specific for IDH mutant astrocytoma (Group A). 30536195 2019
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 Biomarker disease BEFREE Moreover, we found two genetic/clinical correlations that must be evaluated to understand their impact in the clinical setting: i) how is PTEN deletion a favorable prognostic factor in GBM IDH wildtype and an unfavorable prognostic factor in astrocytoma IDH wildtype and ii) how EGFR amplification is an independent and strong factor of response to radiotherapy. 31623593 2019
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 AlteredExpression disease BEFREE Multivariate analysis further revealed that prognosis of astrocytoma was significantly associated with Sp1 expression (p = 0.036) and IDH-1 expression (p < 0.001). 29948615 2019
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 GeneticVariation disease BEFREE ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an "integrated" diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma. 25427834 2015
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 GeneticVariation disease BEFREE Pan-mutant IDH1 inhibitor BAY 1436032 for effective treatment of IDH1 mutant astrocytoma in vivo. 28124097 2017
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 Biomarker disease BEFREE In this study, we assessed the status of p53, IDH1/2, and chromosome 7 to determine the most useful panel to distinguish astrocytoma from astrocytosis. 21343879 2011
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 GeneticVariation disease BEFREE In contrast, the mutation load was similar, as was the methylation pattern, being consistent with IDH-mutant astrocytoma. 29741737 2018
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 GeneticVariation disease BEFREE Of these, we recommend, OA,NOS and IDH1(R132H)-non-mt ODG,NOS to be our priority for performing 1p/19q co-deletion studies in comparison to IDH-mt ODG,NOS, and it would not be mandatory for astrocytoma. 28801347 2018
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 GeneticVariation disease BEFREE However, later genome-wide methylation profiling of the diagnostic tumor undertaken to guide treatment, revealed characteristics most consistent with IDH-mutant astrocytoma. 28993028 2018
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 GeneticVariation disease BEFREE In patients with astrocytoma, the TERT promoter mutations only associated with poor survival (P < 0.0001); IDH mutations and 1p/19q deletions associated with increased survival (P = 0.0004). 25797251 2015
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 GeneticVariation disease BEFREE IDH1 mutations of the R132C type are strongly associated with astrocytoma, while IDH2 mutations predominantly occur in oligodendroglial tumors. 19554337 2009
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 GeneticVariation disease BEFREE Identification of a novel inactivating mutation in Isocitrate Dehydrogenase 1 (IDH1-R314C) in a high grade astrocytoma. 27460417 2016
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 GeneticVariation disease BEFREE This data poses a substantial challenge for the current practice of astrocytoma grading and risk stratification and is likely to have far-reaching consequences on the management of patients with IDH-mutant astrocytoma. 25962792 2015
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 Biomarker disease BEFREE Shorter PFS was associated with the astrocytoma IDH-wildtype subtype despite similar extent of resection and adjuvant treatment rates compared to the other subtypes.OS did not differ between subtypes. 30498891 2019
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 GeneticVariation disease BEFREE Trisomy of chromosome 7 in IDH mutated astrocytoma and PTEN mutations in IDH mutated oligodendroglioma are potential markers of poor prognosis, but require confirmation in larger series. 29663171 2018
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 GeneticVariation disease BEFREE IDH1 sequencing and loss of heterozygosity analysis was performed for 15 surgery samples of astrocytoma and early and late passages of cells derived from those and for 11 archival samples. 21326241 2011
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 GeneticVariation disease BEFREE A total of 135 cases consisted of 38 IDH-mutant [17 astrocytoma (AC), 13 oligodendroglioma (OD) and eight glioblastoma (GBM)], 87 IDH-wildtype (six AC, three OD and 78 GBM), and 10 diffuse midline glioma, H3K27M-mutant. 30710203 2019
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 GeneticVariation disease BEFREE The NGS approach was effective in reclassifying 36 oligoastrocytomas as 30 astrocytomas (20 IDH1/2 mutant and 10 IDH1/2 wild type) and 6 oligodendrogliomas, and 1 oligodendroglioma as an astrocytoma (IDH1/2 mutant). 28042970 2017
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 GeneticVariation disease BEFREE In non 1p/19q codeleted LGGs, we demonstrated that (i) 11p loss is associated with astrocytoma phenotype and has an independent negative prognostic value, and (ii) 19q loss diminished the favorable prognostic value of IDH mutation. 24335697 2014
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 AlteredExpression disease BEFREE These results suggest that nestin level and IDH 1/2 mutation status are strong prognostic features in A+OA II-III and possibly more helpful for treatment planning than routine histopathological variables such as oligodendroglial component (astrocytoma vs. oligoastrocytoma) and WHO grade (grade II vs. III). 24519516 2014
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 AlteredExpression disease BEFREE CXCR7 was overexpressed in astrocytoma and correlates with CXCR4 and IDH1 in AGII and CXCR4, IDH1 and HIF1α in GBM. 24970694 2015
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 GeneticVariation disease BEFREE As the presence of the p.R132H mutation in the IDH1 gene seems to be a more powerful prognostic marker than O(6)-methylguanine-DNA methyltransferase promoter status, we evaluated the presence of IDH1 mutation in Polish patients with astrocytoma, glioblastoma, oligoastrocytoma, ganglioglioma, oligodendroglioma, and ependymoma. 23934769 2014
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 GeneticVariation disease BEFREE IDH1 mutations occurred frequently in low grades of astrocytoma. 22772731 2012
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 GeneticVariation disease BEFREE 36 (57%) had oligodendroglioma and 27 astrocytoma.IDH-1 mutation was present in 53 (84%). 30292978 2018
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.100 AlteredExpression disease BEFREE Using an integrated functional genomics approach, we prioritized networks associated with astrocytoma progression using the following criteria: differential co-expression between grade II and grade III IDH1-mutated and 1p/19q euploid astrocytomas, preferential enrichment for genetic risk to cancer, association with patient survival and sample-level genomic features. 31420939 2019