rs113488022
|
|
Glioblastoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Epithelioid GBM with BRAF V600E mutation can be considered a good treatment indication for precision medicine, and this patient-derived cell line should be useful for prediction of the tumor response and clarification of its biological characteristics.
|
31345255 |
2019 |
rs113488022
|
|
Glioblastoma
|
|
0.800 |
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 |
rs113488022
|
|
Glioblastoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The aim of the current study was to examine BRAF V600E mutations in 20 GBMs, including GBMs with epithelioid features, giant cell GBMs and conventional GBMs.
|
30013630 |
2018 |
rs113488022
|
|
Glioblastoma
|
|
0.800 |
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 |
rs113488022
|
|
Glioblastoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
BRAF V600E, TERT promoter mutations and CDKN2A/B homozygous deletions are frequent in epithelioid glioblastomas: a histological and molecular analysis focusing on intratumoral heterogeneity.
|
29105198 |
2018 |
rs113488022
|
|
Glioblastoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The serine/threonine-protein kinase B-Raf (BRAF) V600E mutation has been found at a high frequency of 54% in epithelioid glioblastomas.
|
26375727 |
2016 |
rs113488022
|
|
Glioblastoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
This case suggests that the BRAF V600E mutation may be involved in the malignant transformation to glioblastoma.
|
26404554 |
2016 |
rs113488022
|
|
Glioblastoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Our data suggest routine screening for BRAF V600E mutations for glioblastomas WHO grade IV below the age of 30, especially in glioblastomas with epithelioid features and in all rhabdoid meningiomas WHO grade III.
|
27350555 |
2016 |
rs113488022
|
|
Glioblastoma
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs113488022
|
|
Glioblastoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
BRAF VE1 immunoreactivity patterns in epithelioid glioblastomas positive for BRAF V600E mutation.
|
25581727 |
2015 |
rs113488022
|
|
Glioblastoma
|
|
0.800 |
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 |
rs113488022
|
|
Glioblastoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
We report here the detection of the BRAF V600E mutation in a patient with c-GBM and describe the patient's clinical course as well as the results of histopathological analysis.
|
25885250 |
2015 |
rs113488022
|
|
Glioblastoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
These findings suggest that epithelioid GBM may arise from a PXA with a BRAF V600E mutation.
|
24894018 |
2014 |
rs113488022
|
|
Glioblastoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
BRAF V600E mutational analyses should be performed on E-GBMs, particularly in all pediatric and young-aged adults, given the potential for BRAF inhibitor therapy in this subset of GBM patients.
|
23552385 |
2013 |
rs113488022
|
|
Glioblastoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
BRAF V600E mutations were identified in only 2 of 71 (2.8%) glioblastoma (GBM) analyzed, including 1 of 9 (11.1%) giant cell GBM (gcGBM).
|
21479234 |
2011 |
rs121913500
|
|
Glioblastoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
For this reason, it was suggested that immunohistochemistry against IDH1 R132H is sufficient to classify GBM as IDH wild-type in this age group.
|
31758617 |
2020 |
rs121913500
|
|
Glioblastoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Isocitrate dehydrogenase (IDH) is mutated in >80% of lower-grade infiltrating gliomas in adults and in ~10% of glioblastomas, with IDH1 (R132H) being the most common mutation.
|
30221786 |
2019 |
rs121913500
|
|
Glioblastoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
We analyzed patients with newly diagnosed GBM and excluded patients who presented with IDH1 R132H mutations.
|
29617848 |
2019 |
rs121913500
|
|
Glioblastoma
|
|
0.800 |
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
|
|
Glioblastoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
R132H mutation of isocitrate dehydrogenase 1 (IDH1) is found in ~75% of low-grade gliomas and secondary glioblastomas as well as in several other types of cancer.
|
29792149 |
2018 |
rs121913500
|
|
Glioblastoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
We found that both low-grade and high-grade (i.e., GBM) IDH1 R132H gliomas exhibit low Fn14 mRNA and protein levels compared to IDH1 WT gliomas.
|
29453678 |
2018 |
rs121913500
|
|
Glioblastoma
|
|
0.800 |
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 |
rs121913500
|
|
Glioblastoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Low-grade gliomas (WHO II/III) had lower xCT expression than glioblastoma (p = 0.001), and tumors without IDH1 R132H mutation tended to have higher xCT levels (p = 0.07).
|
29404978 |
2018 |
rs121913500
|
|
Glioblastoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Mutation of the isocitrate dehydrogenase 1 (IDH1) gene at codon 132 has been identified in approximately 70% of low-grade (II and III) human gliomas and secondary glioblastomas, with the IDH1 R132H point mutation representing 92.7% of these mutations.
|
30502793 |
2018 |
rs121913500
|
|
Glioblastoma
|
|
0.800 |
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 |