rs1057519369
|
|
TG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs773442580
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we investigated whether stable expression of an activated Ki-Ras oncogenic mutant (G12V) in human astrocytoma cells leads to constitutive activation of the MAP kinase pathway and how this may influence cellular proliferation and signaling by epidermal growth factor (EGF) receptor.
|
9863009 |
1999 |
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 |
rs371409680
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To examine this issue, we analyzed the significance of sequential accumulation of two somatic point mutations (R267W and E258D) in the TP53 gene during the initiation of astrocytoma in a patient born with a single germ-line p53 point mutation (R283H).
|
12019170 |
2002 |
rs55832599
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To examine this issue, we analyzed the significance of sequential accumulation of two somatic point mutations (R267W and E258D) in the TP53 gene during the initiation of astrocytoma in a patient born with a single germ-line p53 point mutation (R283H).
|
12019170 |
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 |
rs866419664
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To examine this issue, we analyzed the significance of sequential accumulation of two somatic point mutations (R267W and E258D) in the TP53 gene during the initiation of astrocytoma in a patient born with a single germ-line p53 point mutation (R283H).
|
12019170 |
2002 |
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 |
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 |
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 |
rs878854066
|
|
|
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 |
rs1801516
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We propose the three-hit hypothesis as a triangle initiators includes D1853N as a first predisposing hit, IVS 38- 63T --> A as a second hit deriving from the first somatic evolution before differentiation and IVS 38- 30 A --> G as a third hit through the development of an astrocytoma.
|
18465141 |
2008 |
rs121913500
|
|
|
0.800 |
GeneticVariation |
BEFREE |
IDH1 R132H mutations occur in approximately 70% of astrocytomas and oligodendroglial tumors.
|
19798509 |
2009 |
rs121913500
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
IDH1 R132H mutations occur in approximately 70% of astrocytomas and oligodendroglial tumors.
|
19798509 |
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 |
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 |
rs121913499
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Without exception, all were R132C (CGT-->TGT), which in sporadic astrocytomas accounts for <5% of IDH1 mutations.
|
19340432 |
2009 |
rs121913499
|
|
|
0.720 |
GeneticVariation |
BEFREE |
IDH1 mutations of the R132C type are strongly associated with astrocytoma, while IDH2 mutations predominantly occur in oligodendroglial tumors.
|
19554337 |
2009 |
rs281865545
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ICAM-1 (Lys469Glu) and PECAM-1 (Leu125Val) polymorphisms in diffuse astrocytomas.
|
19306055 |
2009 |
rs5498
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ICAM-1 (Lys469Glu) and PECAM-1 (Leu125Val) polymorphisms in diffuse astrocytomas.
|
19306055 |
2009 |
rs751857027
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Without exception, all were R132C (CGT-->TGT), which in sporadic astrocytomas accounts for <5% of IDH1 mutations.
|
19340432 |
2009 |
rs770374782
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Without exception, all were R132C (CGT-->TGT), which in sporadic astrocytomas accounts for <5% of IDH1 mutations.
|
19340432 |
2009 |
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 |