|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
The R132H mutation in isocitrate dehydrogenase 1 (IDH1<sup>R132H</sup>) is commonly observed and associated with better survival in glioblastoma multiforme (GBM), a malignant brain tumor.
|
31151327 |
2019 |
|
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 |
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 |
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
|
|
Glioblastoma Multiforme
|
|
0.100 |
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 Multiforme
|
|
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
|
|
Glioblastoma Multiforme
|
|
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 |
|
rs121913500
|
|
Glioblastoma Multiforme
|
|
0.100 |
GeneticVariation
|
BEFREE |
In this study, we investigated which genes are differentially regulated in IDH1 wild type (IDH1WT) or IDH1 R132H mutation (IDH1R132H) glioblastoma cells.
|
28445981 |
2017 |
|
rs121913500
|
|
Glioblastoma Multiforme
|
|
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
|
|
Glioblastoma Multiforme
|
|
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
|
|
Glioblastoma Multiforme
|
|
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
|
|
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 |
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 |
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 |
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 |
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 |
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 |