rs2297440
|
|
Glioblastoma Multiforme
|
|
0.730 |
GeneticVariation
|
BEFREE |
Using the χ(2) test, we found that rs2297440 and rs6010620 in RTEL1 increased risk of GBM.
|
26156397 |
2015 |
rs2297440
|
|
Glioblastoma Multiforme
|
|
0.730 |
GeneticVariation
|
BEFREE |
The opposite is true of RTEL (20q13) region polymorphisms, which are significantly associated with glioblastoma (rs2297440, OR = 0.56, P = 4.6 × 10(-10)) but not oligodendroglial tumor.
|
21356187 |
2011 |
rs2297440
|
|
Glioblastoma Multiforme
|
|
0.730 |
GeneticVariation
|
BEFREE |
We identified LIG4 rs7325927 and BTBD2 rs11670188 as predictors of STS in GBM and CCDC26 rs10464870 and rs891835, HMGA2 rs1563834, and RTEL1 rs2297440 as predictors of LTS.
|
20368557 |
2010 |
rs78378222
|
|
Glioblastoma Multiforme
|
|
0.710 |
GeneticVariation
|
BEFREE |
The association between rs78378222 and risk was seen for both glioblastoma multiforme (GBM) and non-GBM tumours.
|
23571737 |
2013 |
rs55705857
|
|
Glioblastoma Multiforme
|
|
0.710 |
GeneticVariation
|
BEFREE |
Analysis by glioma subtype showed the association with rs55705857 confined to non-glioblastoma multiforme (non-GBM) tumours (P = 1.07 × 10(-67)).
|
23399484 |
2013 |
rs3851634
|
|
Glioblastoma Multiforme
|
|
0.710 |
GeneticVariation
|
BEFREE |
After genotyping an additional 1,490 cases and 1,723 controls we identify new risk loci for glioblastoma (GBM) at 12q23.33 (rs3851634, near POLR3B, P=3.02 × 10(-9)) and non-GBM at 10q25.2 (rs11196067, near VTI1A, P=4.32 × 10(-8)), 11q23.2 (rs648044, near ZBTB16, P=6.26 × 10(-11)), 12q21.2 (rs12230172, P=7.53 × 10(-11)) and 15q24.2 (rs1801591, near ETFA, P=5.71 × 10(-9)).
|
26424050 |
2015 |
rs10069690
|
|
Glioblastoma Multiforme
|
|
0.710 |
GeneticVariation
|
BEFREE |
The minor alleles of rs2736100 and rs10069690 SNP's, located in intron 2 and the promotor regions, respectively, were associated with an increased risk of developing GBM (p = 0.004 and 0.001).
|
26143636 |
2015 |
rs121913500
|
|
Glioblastoma Multiforme
|
|
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 |
rs121913500
|
|
Glioblastoma Multiforme
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our results indicate that the IDH1 R132H mutation is a powerful prognostic marker in GBM treated with chemoradiation.
|
20560678 |
2010 |
rs121913500
|
|
Glioblastoma Multiforme
|
|
0.100 |
GeneticVariation
|
BEFREE |
The aim of this study was to explore the difference in high mobility group A1 (HMGA1) expression and isocitrate dehydrogenase (IDH) 1 R132H point mutation in initial and recurrent glioblastoma multiforme (GBM), and to further identify whether the expression of HMGA1 has a role in the malignant progression of GBM.
|
26092597 |
2015 |
rs121913500
|
|
Glioblastoma Multiforme
|
|
0.100 |
GeneticVariation
|
BEFREE |
HMab-2 detected endogenous IDH1-R132H protein expressed in glioblastoma in immunohistochemical analysis.
|
26381180 |
2015 |
rs121913500
|
|
Glioblastoma Multiforme
|
|
0.100 |
GeneticVariation
|
BEFREE |
In addition, overexpression of IDH1-R132H in glioblastoma cell lines U87 and U251 led to reduced cell proliferation, migration and invasion, accompanied by increased apoptosis.
|
26860959 |
2016 |
rs121913500
|
|
Glioblastoma Multiforme
|
|
0.100 |
GeneticVariation
|
BEFREE |
Overexpression of IDH1(R132H) and IDH2(R172K) mutant protein in glioblastoma cells resulted in increased radiation sensitivity and altered ROS metabolism and suppression of growth and migration in vitro.
|
23115158 |
2013 |
rs121913500
|
|
Glioblastoma Multiforme
|
|
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 |
rs121913500
|
|
Glioblastoma Multiforme
|
|
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
|
|
Glioblastoma Multiforme
|
|
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 |
rs121913500
|
|
Glioblastoma Multiforme
|
|
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 |
rs121913500
|
|
Glioblastoma Multiforme
|
|
0.100 |
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 Multiforme
|
|
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 |
rs121913500
|
|
Glioblastoma Multiforme
|
|
0.100 |
GeneticVariation
|
BEFREE |
This group showed absent IDH1-R132</span>H expression, which is characteristic of primary GBM.
|
22197544 |
2012 |
rs121913500
|
|
Glioblastoma Multiforme
|
|
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 |
rs121913500
|
|
Glioblastoma Multiforme
|
|
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
|
|
Glioblastoma Multiforme
|
|
0.100 |
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 Multiforme
|
|
0.100 |
GeneticVariation
|
BEFREE |
Induction of G-CIMP+ state by exogenous expression of a mutated isocitrate dehydrogenase 1, IDH1-R132H, suppressed EGFR and H-Ras protein expression as well as pERK accumulation in independent glioblastoma models.
|
25277177 |
2014 |
rs121913500
|
|
Glioblastoma Multiforme
|
|
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 |