|
rs1057519369
|
|
TG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs2271338
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A three-variant ADHD risk haplotype in evolutionary conserved region 47, formed by rs17226398, rs56038622, and rs2271338, reduced enhancer activity by 40% in neuroblastoma and astrocytoma cells (p<sub>Bonferroni</sub> < .0001).
|
27692237 |
2016 |
|
rs7115578
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Additionally, rs7115578 AG genotype represented a poorer prognosis of glioma (HR = 1.24, P=0.033) and astrocytoma (log-rank P=0.037, HR = 1.31, P=0.036).
|
31652449 |
2019 |
|
rs1057519903
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Additionally, H3F3A K27M was not detected in the 2 diffuse astrocytomas.
|
24285547 |
2014 |
|
rs113488022
|
|
|
0.080 |
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
|
|
|
0.080 |
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 |
|
rs5050
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Angiotensinogen rs5050 germline genetic variant as potential biomarker of poor prognosis in astrocytoma.
|
30383794 |
2018 |
|
rs121913500
|
|
|
0.800 |
GeneticVariation |
BEFREE |
As the presence of the p.R132H mutation in the IDH1 gene seems to be a more powerful prognostic marker than O(6)-methylguanine-DNA methyltransferase promoter status, we evaluated the presence of IDH1 mutation in Polish patients with astrocytoma, glioblastoma, oligoastrocytoma, ganglioglioma, oligodendroglioma, and ependymoma.
|
23934769 |
2014 |
|
rs121913500
|
|
|
0.800 |
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 |
|
rs118101777
|
|
|
0.030 |
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 |
|
rs1057519903
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Because H3F3A K27M mutations occur exclusively in pediatric diffuse high-grade astrocytomas, analysis of codon 27 mutational status could be useful in the differential diagnosis of these neoplasms.
|
23429371 |
2013 |
|
rs121913500
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Because many ALT tumors express the mutant isocitrate dehydrogenase IDH1 R132H, including all lower grade astrocytomas and secondary glioblastoma, we examined a hypothesized role for IDH1 R132H in driving the ALT phenotype during gliomagenesis.
|
29545335 |
2018 |
|
rs113488022
|
|
|
0.080 |
GeneticVariation |
BEFREE |
BRAF V600E mutation was observed both in epithelioid tumor cells and in diffusely infiltrating less atypical astrocytoma cells.
|
24354918 |
2014 |
|
rs121913377
|
|
|
0.080 |
GeneticVariation |
BEFREE |
BRAF V600E mutation was observed both in epithelioid tumor cells and in diffusely infiltrating less atypical astrocytoma cells.
|
24354918 |
2014 |
|
rs113488022
|
|
|
0.080 |
GeneticVariation |
BEFREE |
BRAF(V600E) mutation seems to define a subset of malignant astrocytomas in children, in which there is frequent concomitant homozygous deletion of CDKN2A (five of seven cases).
|
20068183 |
2010 |
|
rs121913377
|
|
|
0.080 |
GeneticVariation |
BEFREE |
BRAF(V600E) mutation seems to define a subset of malignant astrocytomas in children, in which there is frequent concomitant homozygous deletion of CDKN2A (five of seven cases).
|
20068183 |
2010 |
|
rs12594
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Cox regression analysis shows that RYR2 rs12594 AA genotype and AG genotype were associated with OS of astrocytoma (AG genotype: HR = 1.62, 95% CI 1.04-2.53, p = 0.034; AA genotype: HR = 1.70, 95% CI 1.08-2.68, p = 0.021).
|
31440994 |
2019 |
|
rs121913499
|
|
T |
0.720 |
GeneticVariation |
CLINVAR |
Establishment of a novel monoclonal antibody SMab-1 specific for IDH1-R132S mutation.
|
21352804 |
2011 |
|
rs121913500
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Fractional anisotropy and ADC from DTI can noninvasively detect IDH1 R132H mutation in astrogliomas.
|
24557705 |
2014 |
|
rs867657798
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, an in vitro functional assay showed that S73F and S23G mutants of beta-catenin did not affect transcriptional activity in TCF-4-leuciferase reporter construct, suggesting that they may need more complex factors to participate in astrocytoma.
|
12049819 |
2002 |
|
rs868162712
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, an in vitro functional assay showed that S73F and S23G mutants of beta-catenin did not affect transcriptional activity in TCF-4-leuciferase reporter construct, suggesting that they may need more complex factors to participate in astrocytoma.
|
12049819 |
2002 |
|
rs1476157710
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, an in vitro functional assay showed that S73F and S23G mutants of beta-catenin did not affect transcriptional activity in TCF-4-leuciferase reporter construct, suggesting that they may need more complex factors to participate in astrocytoma.
|
12049819 |
2002 |
|
rs766727892
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, an in vitro functional assay showed that S73F and S23G mutants of beta-catenin did not affect transcriptional activity in TCF-4-leuciferase reporter construct, suggesting that they may need more complex factors to participate in astrocytoma.
|
12049819 |
2002 |
|
rs121913500
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Furthermore, IMab-1 specifically stained the IDH1(R132H)-expressing cells in astrocytomas in immunohistochemistry, whereas it did not react with IDH1(R132H)-negative primary glioblastoma sections.
|
19818334 |
2009 |
|
rs121913500
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Furthermore, IMab-1 specifically stained the IDH1(R132H)-expressing cells in astrocytomas in immunohistochemistry, whereas it did not react with IDH1(R132H)-negative primary glioblastoma sections.
|
19818334 |
2009 |