|
rs118101777
|
|
|
0.050 |
GeneticVariation |
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 |
|
rs1205454520
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Introduction of normal PTEN together with H-Ras(G12V) into U251 glioblastoma cells reduced the PI3K-dependent activation of Akt, but had no effect on vacuolation.
|
17210246 |
2007 |
|
rs121909218
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results were also confirmed by expressions of Ad-wt-PTEN and Ad-G129E-PTEN in other glioblastoma cells lacking functional PTEN, U251MG, and U373MG.
|
12414663 |
2002 |
|
rs121912438
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, selective death of embryonal spinal motor neurons from G93A-SOD1 transgenic mice is induced by coculture with G93A-glioblastoma and prevented by inhibition of NO synthase.
|
15208263 |
2004 |
|
rs121912660
|
|
|
0.010 |
GeneticVariation |
BEFREE |
On the other hand, the Nuclear factor of activated T-cells (NFAT)-luciferase reporter was more potently activated by p53-K120R than by wild-type p53 and other mutants in glioblastoma, hepatoma and esophageal carcinoma cells.
|
19416725 |
2009 |
|
rs121913343
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Biallelic GOF mutations (p.R273H and p.R273C) were identified in a 19-year-old male with glioblastoma (allele frequencies 94% and 48%) and a 54-year-old with pT3 penile squamous cell carcinoma (allele frequencies 19% and 27%).
|
29666004 |
2018 |
|
rs121913377
|
|
|
0.070 |
GeneticVariation |
BEFREE |
This case suggests that the BRAF V600E mutation may be involved in the malignant transformation to glioblastoma.
|
26404554 |
2016 |
|
rs121913377
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Moreover, to our knowledge, there is no detailed report of the BRAF V600E mutation in an adult glioblastoma with classical histologic features (c-GBM).
|
25885250 |
2015 |
|
rs121913377
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Here, we describe a case of systemic metastases of a clonal subpopulation of BRAF V600E mutated glioblastoma in a patient previously treated with surgery, radiation, temozolomide and bevacizumab.
|
29744614 |
2018 |
|
rs121913377
|
|
|
0.070 |
GeneticVariation |
BEFREE |
In our analysis we detect BRAF V600E mutations in 12 of 20 (60%) WHO grade II PXA, in 1 of 6 (17%) PXA with anaplasia and in 1 glioblastoma arising in a PXA.
|
21479234 |
2011 |
|
rs121913377
|
|
|
0.070 |
GeneticVariation |
BEFREE |
BRAF V600E mutation and BRAF VE1 immunoexpression profiles in different types of glioblastoma.
|
30013630 |
2018 |
|
rs121913377
|
|
|
0.070 |
GeneticVariation |
BEFREE |
An institutional cohort of 105 brain tumors (51 dysembryoplastic neuroepithelial tumors (DNTs), 14 subependymal giant cell astrocytomas (SEGAs), 12 glioblastoma with neuronal marker expression (GBM-N), and 28 pleomorphic xanthoastrocytomas (PXAs)) from 100 patients were investigated for the presence of BRAF(V600E) by direct sequencing.
|
25346165 |
2015 |
|
rs121913377
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Epithelioid glioblastoma is a recognized glioblastoma variant, recently added to the World Health Organization brain tumor classification, with similar prognosis as the classic variant and B-Raf V600E mutations in 50% of the cases.
|
31258848 |
2019 |
|
rs121913499
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, SMab-1 specifically stained the IDH1-R132S-expressing glioblastoma cells in immunocytochemistry and immunohistochemistry, but did not react with IDH1-WT or IDH1-R132H-containing glioblastoma cells.
|
21352804 |
2011 |
|
rs121913500
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Expression of R132H mutational IDH1 in human U87 glioblastoma cells affects the SREBP1a pathway and induces cellular proliferation.
|
23011765 |
2013 |
|
rs121913500
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We also found that overexpression of αB-crystallin can be induced by transfecting U251 human glioblastoma cell lines with the IDH1(R132H) mutation.
|
24473683 |
2014 |
|
rs121913500
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The findings of the current study demonstrate presence of the IDH1 R132H mutation in primary human glioblastoma cell lines with upregulated HIF-1α expression, downregulating c-MYC activity and resulting in a consequential decrease in miR-20a, which is responsible for cell proliferation and resistance to standard temozolomide treatment.
|
29625108 |
2018 |
|
rs121913500
|
|
|
0.100 |
GeneticVariation |
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 |
|
rs121913500
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Furthermore, SMab-1 specifically stained the IDH1-R132S-expressing glioblastoma cells in immunocytochemistry and immunohistochemistry, but did not react with IDH1-WT or IDH1-R132H-containing glioblastoma cells.
|
21352804 |
2011 |
|
rs121913500
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We identified a small cohort of WHO grade II-III astrocytomas that harbored the IDH1 R132H mutation, as confirmed by both immunohistochemistry and molecular sequence analysis, which nonetheless had unexpectedly rapid recurrence and subsequent progression to glioblastoma.
|
28421459 |
2017 |
|
rs121913500
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mean CBF1 expression is significantly increased in isocitrate dehydrogenase 1 (IDH1) R132H mutant glioblastoma and serves as prognostic marker for prolonged overall survival in brain tumours, particularly after therapy with temozolomide.
|
28571041 |
2017 |
|
rs121913500
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Multivariate analysis revealed age, Karnofsky performance score, extent of tumor resection, first-line treatment, year of diagnosis, and MGMT promoter methylation status were associated with survival in patients with IDH1(R132H) -nonmutant glioblastoma.
|
27088883 |
2016 |
|
rs121913500
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To confirm this mutation's role in GSCs, the IDH1-R132H in GSCs isolated from glioblastoma patients with IDH1 mutations was overexpressed by using lentiviral constructs in vitro, and then the proliferation, differentiation, apoptosis, migration and invasion of the transfected GSCs were explored.
|
29115585 |
2018 |
|
rs121913500
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Tumor-to-muscle ratios were also significantly higher in U251/IDH1 R132H tumo</span>rs (3.36 ± </span>0.41 vs. 1.88 ± 0.59, p = 0.0030).
|
31667733 |
2019 |
|
rs121913500
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In the subgroup of 142 glioma patients characterized by IDH1-R132H status, METT/N ratio demonstrated a significant prognostic impact in IDH1-R132H wildtype astrocytomas and glioblastoma (P = 0.001).
|
29016947 |
2018 |