|
rs1040177874
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Identification of a novel inactivating mutation in Isocitrate Dehydrogenase 1 (IDH1-R314C) in a high grade astrocytoma.
|
27460417 |
2016 |
|
rs1042522
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Specifically, we found (i) that the genotype distributions of the P53 Arg72Pro between all brain tumors and controls were statistically significant (P < 0.001) as well as their variant allele frequencies between cases and controls (P < 0.001); (ii) that there was a significant increase in the Arg/Pro heterozygous genotype among high-grade astrocytomas compared with non-astrocytomas (P = 0.002); and (iii) that there was a significant increase in the Arg/Pro heterozygous genotype among high-grade astrocytomas containing transdominant as well as recessive p53 mutations compared with controls (P = 0.002).
|
15950766 |
2005 |
|
rs1057519369
|
|
TG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1057519897
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
rs1057519898
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
rs1057519899
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
rs1057519903
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Additionally, H3F3A K27M was not detected in the 2 diffuse astrocytomas.
|
24285547 |
2014 |
|
rs1057519903
|
|
T |
0.720 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
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 |
|
rs1131691014
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Specifically, we found (i) that the genotype distributions of the P53 Arg72Pro between all brain tumors and controls were statistically significant (P < 0.001) as well as their variant allele frequencies between cases and controls (P < 0.001); (ii) that there was a significant increase in the Arg/Pro heterozygous genotype among high-grade astrocytomas compared with non-astrocytomas (P = 0.002); and (iii) that there was a significant increase in the Arg/Pro heterozygous genotype among high-grade astrocytomas containing transdominant as well as recessive p53 mutations compared with controls (P = 0.002).
|
15950766 |
2005 |
|
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 |
|
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 |
|
rs113488022
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Thus BRAF V600E mutation is common in desmoplastic non-infantile astrocytoma/ganglioglioma, but does not affect the prognosis.
|
29902580 |
2018 |
|
rs113488022
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The BRAF(V600E) inhibitor PLX4720 significantly increased survival of mice after intracranial transplant of genetically relevant murine or human astrocytoma cells.
|
22586120 |
2012 |
|
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 |
|
rs113488022
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Similar to previously reported findings on E-GBM associated with low-grade glioma, this case suggested that low-grade astrocytic glioma with BRAF V600E mutation progressed to E-GBM.
|
26602910 |
2016 |
|
rs113488022
|
|
|
0.080 |
GeneticVariation |
BEFREE |
With regard to implications for therapy, our results support evaluation of BRAF(V600E)-specific inhibitors for treating BRAF(V600E) MA patients.
|
22038996 |
2011 |
|
rs113488022
|
|
|
0.080 |
GeneticVariation |
BEFREE |
In summary, high grade astrocytomas with BRAF V600E, ATRX, and CDKN2A/B alternations had unique clinicopathological features and may be a novel subset of high grade glioma.
|
30972500 |
2019 |
|
rs118101777
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Of these, we recommend, OA,NOS and IDH1(R132H)-non-mt ODG,NOS to be our priority for performing 1p/19q co-deletion studies in comparison to IDH-mt ODG,NOS, and it would not be mandatory for astrocytoma.
|
28801347 |
2018 |
|
rs118101777
|
|
|
0.030 |
GeneticVariation |
BEFREE |
No IDH1-R132H mutation was detected in 2 of 2 (0%) astrocytomas by immunohistochemistry.
|
26990854 |
2016 |
|
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 |
|
rs121913377
|
|
|
0.080 |
GeneticVariation |
BEFREE |
In summary, high grade astrocytomas with BRAF V600E, ATRX, and CDKN2A/B alternations had unique clinicopathological features and may be a novel subset of high grade glioma.
|
30972500 |
2019 |
|
rs121913377
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Similar to previously reported findings on E-GBM associated with low-grade glioma, this case suggested that low-grade astrocytic glioma with BRAF V600E mutation progressed to E-GBM.
|
26602910 |
2016 |
|
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 |
|
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 |