|
rs28934576
|
|
|
0.740 |
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 |
|
rs28934576
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The impact of arsenic trioxide and all-trans retinoic acid on p53 R273H-codon mutant glioblastoma.
|
24399651 |
2014 |
|
rs28934576
|
|
|
0.740 |
GeneticVariation |
BEFREE |
We found that zinc re-established chemosensitivity in breast cancer SKBR3 (expressing R175H mutation) and glioblastoma U373MG (expressing R273H mutation) cell lines.
|
21508668 |
2011 |
|
rs28934576
|
|
|
0.740 |
GeneticVariation |
BEFREE |
To identify functional binding sites of mutp53, we established a small library of genomic sequences bound by p53(R273H) in U251 human glioblastoma cells using chromatin immunoprecipitation (ChIP).
|
19139068 |
2009 |
|
rs121913343
|
|
|
0.710 |
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 |
|
rs121912656
|
|
|
0.710 |
GeneticVariation |
BEFREE |
K27M- and G34V-H3.3 have location-based incidence (brainstem/cortex) and potentially play distinct roles in pediatric GBM pathogenesis.
|
22661320 |
2012 |
|
rs760043106
|
|
|
0.710 |
GeneticVariation |
BEFREE |
In our study, a novel germline c.584T>C (p.Ile195Thr) mutation of the p53 gene was found in a 21-year-old male with a glioblastoma and colon cancer.
|
19405127 |
2009 |
|
rs55819519
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mutated IDH1 R132H protein and H3F3A K27M mutations indicate that a substantial number of GBMc are "metastatic" or "diaschismatic" lesions.
|
30203362 |
2018 |
|
rs55819519
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We prospectively analyzed the clinical data over the course of the disease, baseline MR imaging, and histological characteristics (p53 overexpression, the Ki67 proliferation index, and presence of the IDH1 R132H mutation), in glioblastomas treated in a single hospital from November 2012 to July 2014.
|
28073027 |
2017 |
|
rs55819519
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A total of 15.3% of enrolled GBMs demonstrated loss of ATRX expression (ATRX-), 10.4% expressed an aberrant IDH1 R132H protein (IDH1+), and 48.4% exhibited p53 overexpression (p53+).
|
27478330 |
2016 |
|
rs55819519
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Among the GBM cases it was noted that the IDH1 immunopositive tumors (R132H mutant protein; n=17) had a low MnSOD expression as opposed to IDH1 immunonegative tumors (n=106), which had high expression of MnSOD (p=0.0307).
|
26616112 |
2016 |
|
rs55819519
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Three GBM-O samples had IDH1 (p.R132H) mutations; two of these also demonstrated 1p/19q co-deletion and had a proneural transcriptional profile, a molecular signature characteristic of oligodendroglioma.
|
26757882 |
2016 |
|
rs55819519
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A clonal IDH1 R132H mutation in the primary, a known GBM driver event, was detectable at only very low frequency in the recurrent tumour.
|
25732040 |
2015 |
|
rs55819519
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), strong p53 immunolabeling (1/5), or IDH1 (R132H) protein expression (0/5); but expressed the mesenchymal marker podoplanin in 4/5.
|
26190195 |
2015 |
|
rs55819519
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Here we show that SREBPs were up-regulated in U87 human glioblastoma cells transfected with an IDH1(R132H)-expression plasmid.
|
24077277 |
2013 |
|
rs55819519
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We evaluated nuclear cMYC protein levels and IDH1 (R132H) by immunohistochemistry in patients with oligodendroglioma/oligoastrocytomas (n = 20), astrocytomas (grade II) (n = 19), anaplastic astrocytomas (n = 21) or glioblastomas (n = 111).
|
23934175 |
2013 |
|
rs55819519
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Data showed that 53.7% (72/134) of cases showed mutations affecting codon 132 of IDH1, including 73.2% of LOs, 82.9% of AOs and three primary GBMs (6.5%).All IDH1 mutations were Arg132His.
|
22922798 |
2012 |
|
rs55819519
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Isocitrate dehydrogenase 1 (IDH1) gene mutations, primarily of the R132H type, occur in approximately 60 - 90% of diffuse and anaplastic gliomas and secondary glioblastomas.
|
21955925 |
2011 |
|
rs1042522
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study suggests that the polymorphism of p53 codon 72 Arg/Pro may play a protective role in the development of glioblastoma.
|
23860773 |
2013 |
|
rs1131691014
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study suggests that the polymorphism of p53 codon 72 Arg/Pro may play a protective role in the development of glioblastoma.
|
23860773 |
2013 |
|
rs878854066
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study suggests that the polymorphism of p53 codon 72 Arg/Pro may play a protective role in the development of glioblastoma.
|
23860773 |
2013 |
|
rs121912659
|
|
|
0.010 |
GeneticVariation |
BEFREE |
K27M- and G34V-H3.3 have location-based incidence (brainstem/cortex) and potentially play distinct roles in pediatric GBM pathogenesis.
|
22661320 |
2012 |
|
rs28934578
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that zinc re-established chemosensitivity in breast cancer SKBR3 (expressing R175H mutation) and glioblastoma U373MG (expressing R273H mutation) cell lines.
|
21508668 |
2011 |
|
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 |
|
rs764803020
|
|
|
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 |