Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913377
rs121913377
0.070 GeneticVariation BEFREE This case suggests that the BRAF V600E mutation may be involved in the malignant transformation to glioblastoma. 26404554

2016

dbSNP: rs113488022
rs113488022
0.070 GeneticVariation BEFREE Moreover, to our knowledge, there is no detailed report of the BRAF V600E mutation in an adult glioblastoma with classical histologic features (c-GBM). 25885250

2015

dbSNP: rs113488022
rs113488022
0.070 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

dbSNP: rs121913377
rs121913377
0.070 GeneticVariation BEFREE Moreover, to our knowledge, there is no detailed report of the BRAF V600E mutation in an adult glioblastoma with classical histologic features (c-GBM). 25885250

2015

dbSNP: rs121913377
rs121913377
0.070 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

dbSNP: rs113488022
rs113488022
0.070 GeneticVariation BEFREE In our analysis we detect BRAF V600E mutations in 12 of 20 (60%) WHO grade II PXA, in 1 of 6 (17%) PXA with anaplasia and in 1 glioblastoma arising in a PXA. 21479234

2011

dbSNP: rs121913377
rs121913377
0.070 GeneticVariation BEFREE In our analysis we detect BRAF V600E mutations in 12 of 20 (60%) WHO grade II PXA, in 1 of 6 (17%) PXA with anaplasia and in 1 glioblastoma arising in a PXA. 21479234

2011

dbSNP: rs118101777
rs118101777
0.050 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

dbSNP: rs118101777
rs118101777
0.050 GeneticVariation BEFREE Although no single variant showed an association which was statistically significant at the genome-wide threshold a number represented promising associations - BRCA2:c.9976A>T, p.(Lys3326Ter), which has been shown to influence breast and lung cancer risk (odds ratio (OR)=2.3, P=4.00 × 10(-4) for glioblastoma (GBM)) and IDH2:c.782G>A, p.(Arg261His) (OR=3.21, P=7.67 × 10(-3), for non-GBM). 26264438

2016

dbSNP: rs118101777
rs118101777
0.050 GeneticVariation BEFREE HMab-2 detected endogenous IDH1-R132H protein expressed in glioblastoma in immunohistochemical analysis. 26381180

2015

dbSNP: rs118101777
rs118101777
0.050 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

dbSNP: rs118101777
rs118101777
0.050 GeneticVariation BEFREE Overexpression of IDH1(R132H) and IDH2(R172K) mutant protein in glioblastoma cells resulted in increased radiation sensitivity and altered ROS metabolism and suppression of growth and migration in vitro. 23115158

2013

dbSNP: rs28934576
rs28934576
0.040 GeneticVariation BEFREE Biallelic GOF mutations (p.R273H and p.R273C) were identified in a 19-year-old male with glioblastoma (allele frequencies 94% and 48%) and a 54-year-old with pT3 penile squamous cell carcinoma (allele frequencies 19% and 27%). 29666004

2018

dbSNP: rs28934576
rs28934576
0.040 GeneticVariation BEFREE The impact of arsenic trioxide and all-trans retinoic acid on p53 R273H-codon mutant glioblastoma. 24399651

2014

dbSNP: rs28934576
rs28934576
0.040 GeneticVariation BEFREE We found that zinc re-established chemosensitivity in breast cancer SKBR3 (expressing R175H mutation) and glioblastoma U373MG (expressing R273H mutation) cell lines. 21508668

2011

dbSNP: rs28934576
rs28934576
0.040 GeneticVariation BEFREE To identify functional binding sites of mutp53, we established a small library of genomic sequences bound by p53(R273H) in U251 human glioblastoma cells using chromatin immunoprecipitation (ChIP). 19139068

2009

dbSNP: rs1057519903
rs1057519903
0.030 GeneticVariation BEFREE Histologically, the tumor was considered to be glioblastoma; however, a part of the tumor exhibiting low proliferative activity appeared to be consistent with long-standing H3 K27M-mutant tumors in the literature.Another case was a 69-year-old male. 28547652

2017

dbSNP: rs1057519903
rs1057519903
0.030 GeneticVariation BEFREE Histone H3.3 (H3F3A) mutation in the codon for lysine 27 (K27M) has been found as driver mutations in pediatric glioblastoma and has been suggested to play critical roles in the pathogenesis of thalamic gliomas and diffuse intrinsic pontine gliomas. 27392443

2016

dbSNP: rs1057519903
rs1057519903
0.030 GeneticVariation BEFREE These results demonstrate that we have developed a new reliable procedure for detecting the H3F3A K27M mutation in pediatric glioblastoma patient samples. 26376656

2016

dbSNP: rs861539
rs861539
0.030 GeneticVariation BEFREE Moreover, RAD51 rs1801320 C allele increased the risk to develop glioblastoma also when combined to XRCC1 rs25487 G allele and XRCC3 rs861539 C allele (χ(2) = 6.558; p = 0.0053). 26511493

2016

dbSNP: rs861539
rs861539
0.030 GeneticVariation BEFREE Genotypic and allelic frequencies of seven common polymorphisms in DNA repair genes involved in nucleotide excision repair (ERCC1 rs11615, ERCC2 rs13181, ERCC6 rs4253079), base excision repair (APEX1 rs1130409, XRCC1 rs25487), double-strand break repair (XRCC3 rs861539) and mismatch repair (MLH1 rs1800734) pathways were analyzed in 115 glioblastoma patients and 200 healthy controls. 24325908

2014

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

2012

dbSNP: rs1695
rs1695
0.020 GeneticVariation BEFREE Association of Glutathione S-Transferase P-1 (GSTP-1) rs1695 polymorphism with overall survival in glioblastoma patients treated with combined radio-chemotherapy. 28965273

2018

dbSNP: rs1273593548
rs1273593548
0.020 GeneticVariation BEFREE Gene expression profiles of three glioma stem cell line samples, three normal astrocyte samples, three astrocyte overexpressing 4 iPSC-inducing and oncogenic factors (myc(T58A), OCT-4, p53DD, and H-Ras(G12V)) samples, three astrocyte overexpressing 7 iPSC-inducing and oncogenic factors (OCT4, H-Ras(G12V), myc(T58A), p53DD, cyclin D1, CDK4(RC24) and hTERT) samples and three glioblastoma cell line samples were downloaded from the ArrayExpress database (accession: E-MTAB-4771). 28952134

2017

dbSNP: rs25487
rs25487
0.020 GeneticVariation BEFREE Moreover, RAD51 rs1801320 C allele increased the risk to develop glioblastoma also when combined to XRCC1 rs25487 G allele and XRCC3 rs861539 C allele (χ(2) = 6.558; p = 0.0053). 26511493

2016