Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs773442580
rs773442580
EGF
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

dbSNP: rs1476157710
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

dbSNP: rs371409680
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

dbSNP: rs55832599
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

dbSNP: rs766727892
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

dbSNP: rs866419664
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

dbSNP: rs867657798
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

dbSNP: rs868162712
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

dbSNP: rs1801516
rs1801516
ATM
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

dbSNP: rs121913499
rs121913499
0.010 GeneticVariation BEFREE IDH1 mutations of the R132C type are strongly associated with astrocytoma, while IDH2 mutations predominantly occur in oligodendroglial tumors. 19554337

2009

dbSNP: rs1695
rs1695
0.010 GeneticVariation BEFREE We examined GSTP1 Ile105Val polymorphism using PCR-RFLP in 80 astrocytoma and glioblastoma samples. 21128213

2010

dbSNP: rs662
rs662
0.010 GeneticVariation BEFREE The frequencies of the PON1 genotypes and allelic variants of the polymorphisms PON1 L55M and PON1 Q192R did not differ significantly between patients with astrocytoma and meningioma and controls. 20723250

2010

dbSNP: rs854560
rs854560
0.010 GeneticVariation BEFREE The frequencies of the PON1 genotypes and allelic variants of the polymorphisms PON1 L55M and PON1 Q192R did not differ significantly between patients with astrocytoma and meningioma and controls. 20723250

2010

dbSNP: rs113488022
rs113488022
0.050 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

dbSNP: rs121913377
rs121913377
0.050 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

dbSNP: rs58064122
rs58064122
0.010 GeneticVariation BEFREE On the basis of the protective role shown by both these small heat shock proteins (sHSPs), and on the already well established neuroprotective effects of curcumin in several diseases, we have investigated the effects of this compound in an in vitro model of Alexander disease, consisting in U251-MG astrocytoma cells transiently transfected with a construct encoding for GFAP carrying the p.R239C mutation in frame with the reporter green fluorescent protein (GFP). 22705585

2012

dbSNP: rs861539
rs861539
0.010 GeneticVariation BEFREE We examined XRCC3 Thr241Met polymorphism using PCR-RFLP in 80 astrocytoma and glioblastoma samples. 22370935

2012

dbSNP: rs113488022
rs113488022
0.050 GeneticVariation BEFREE The BT-40 low-grade childhood astrocytoma xenograft model expresses mutated BRAF(V600E) and is highly sensitive to the MEK inhibitor selumetinib (AZD6244). 24132923

2013

dbSNP: rs121913377
rs121913377
0.050 GeneticVariation BEFREE The BT-40 low-grade childhood astrocytoma xenograft model expresses mutated BRAF(V600E) and is highly sensitive to the MEK inhibitor selumetinib (AZD6244). 24132923

2013

dbSNP: rs2297440
rs2297440
0.020 GeneticVariation BEFREE In the recessive model, we found two tSNPs (rs2297440 and rs6010620) associated with increased astrocytoma risk. 23812731

2013

dbSNP: rs137852972
rs137852972
0.010 GeneticVariation BEFREE In this study, we show that expression of seipin N-glycosylation mutant N88S led to decreased triglyceride (TG) content in astrocytoma and motor neuron cell lines. 23250914

2013

dbSNP: rs2853676
rs2853676
0.010 GeneticVariation BEFREE In the additive model, all three tSNPs (rs2297440, rs2853676, and rs6010620) were associated with increased astrocytoma risk. 23812731

2013

dbSNP: rs6010620
rs6010620
0.010 GeneticVariation BEFREE In the additive model, all three tSNPs (rs2297440, rs2853676, and rs6010620) were associated with increased astrocytoma risk. 23812731

2013

dbSNP: rs113488022
rs113488022
0.050 GeneticVariation BEFREE BRAF V600E mutation was observed both in epithelioid tumor cells and in diffusely infiltrating less atypical astrocytoma cells. 24354918

2014

dbSNP: rs121913377
rs121913377
0.050 GeneticVariation BEFREE BRAF V600E mutation was observed both in epithelioid tumor cells and in diffusely infiltrating less atypical astrocytoma cells. 24354918

2014