Gene: TP53 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs371409680
rs371409680
TP53
0.010 GeneticVariation BEFREE Functional analysis of the p53 alleles present in the patient's tumor indicated that the germ-line p53(R283H) could transactivate the CDKN1A((p21, WAF1, cip1, SDI1)) but not the BAX gene and retained the ability to induce growth arrest of human glioblastoma cells. 12019170

2002
dbSNP: rs28934576
rs28934576
TP53
0.740 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: rs760043106
rs760043106
TP53
0.710 GeneticVariation BEFREE In our study, a novel germline c.584T>C (p.Ile195Thr) mutation of the p53 gene was found in a 21-year-old male with a glioblastoma and colon cancer. 19405127

2009
dbSNP: rs121912660
rs121912660
TP53
0.010 GeneticVariation BEFREE On the other hand, the Nuclear factor of activated T-cells (NFAT)-luciferase reporter was more potently activated by p53-K120R than by wild-type p53 and other mutants in glioblastoma, hepatoma and esophageal carcinoma cells. 19416725

2009
dbSNP: rs764803020
rs764803020
TP53
0.010 GeneticVariation BEFREE On the other hand, the Nuclear factor of activated T-cells (NFAT)-luciferase reporter was more potently activated by p53-K120R than by wild-type p53 and other mutants in glioblastoma, hepatoma and esophageal carcinoma cells. 19416725

2009
dbSNP: rs781490101
rs781490101
TP53
0.010 GeneticVariation BEFREE On the other hand, the Nuclear factor of activated T-cells (NFAT)-luciferase reporter was more potently activated by p53-K120R than by wild-type p53 and other mutants in glioblastoma, hepatoma and esophageal carcinoma cells. 19416725

2009
dbSNP: rs28934576
rs28934576
TP53
0.740 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: rs55819519
rs55819519
TP53
0.100 GeneticVariation BEFREE Isocitrate dehydrogenase 1 (IDH1) gene mutations, primarily of the R132H type, occur in approximately 60 - 90% of diffuse and anaplastic gliomas and secondary glioblastomas. 21955925

2011
dbSNP: rs28934578
rs28934578
TP53
0.010 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: rs121912656
rs121912656
TP53
0.710 GeneticVariation BEFREE K27M- and G34V-H3.3 have location-based incidence (brainstem/cortex) and potentially play distinct roles in pediatric GBM pathogenesis. 22661320

2012
dbSNP: rs55819519
rs55819519
TP53
0.100 GeneticVariation BEFREE Data showed that 53.7% (72/134) of cases showed mutations affecting codon 132 of IDH1, including 73.2% of LOs, 82.9% of AOs and three primary GBMs (6.5%).All IDH1 mutations were Arg132His. 22922798

2012
dbSNP: rs121912659
rs121912659
TP53
0.010 GeneticVariation BEFREE K27M- and G34V-H3.3 have location-based incidence (brainstem/cortex) and potentially play distinct roles in pediatric GBM pathogenesis. 22661320

2012
dbSNP: rs55819519
rs55819519
TP53
0.100 GeneticVariation BEFREE We evaluated nuclear cMYC protein levels and IDH1 (R132H) by immunohistochemistry in patients with oligodendroglioma/oligoastrocytomas (n = 20), astrocytomas (grade II) (n = 19), anaplastic astrocytomas (n = 21) or glioblastomas (n = 111). 23934175

2013
dbSNP: rs55819519
rs55819519
TP53
0.100 GeneticVariation BEFREE Here we show that SREBPs were up-regulated in U87 human glioblastoma cells transfected with an IDH1(R132H)-expression plasmid. 24077277

2013
dbSNP: rs1042522
rs1042522
TP53
0.010 GeneticVariation BEFREE Our study suggests that the polymorphism of p53 codon 72 Arg/Pro may play a protective role in the development of glioblastoma. 23860773

2013
dbSNP: rs1131691014
rs1131691014
TP53
0.010 GeneticVariation BEFREE Our study suggests that the polymorphism of p53 codon 72 Arg/Pro may play a protective role in the development of glioblastoma. 23860773

2013
dbSNP: rs878854066
rs878854066
TP53
0.010 GeneticVariation BEFREE Our study suggests that the polymorphism of p53 codon 72 Arg/Pro may play a protective role in the development of glioblastoma. 23860773

2013
dbSNP: rs28934576
rs28934576
TP53
0.740 GeneticVariation BEFREE The impact of arsenic trioxide and all-trans retinoic acid on p53 R273H-codon mutant glioblastoma. 24399651

2014
dbSNP: rs35850753
rs35850753
TP53
T 0.700 GeneticVariation GWASCAT Genome-wide association study identifies multiple susceptibility loci for glioma. 26424050

2015
dbSNP: rs55819519
rs55819519
TP53
0.100 GeneticVariation BEFREE A clonal IDH1 R132H mutation in the primary, a known GBM driver event, was detectable at only very low frequency in the recurrent tumour. 25732040

2015
dbSNP: rs55819519
rs55819519
TP53
0.100 GeneticVariation BEFREE Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), strong p53 immunolabeling (1/5), or IDH1 (R132H) protein expression (0/5); but expressed the mesenchymal marker podoplanin in 4/5. 26190195

2015
dbSNP: rs28934576
rs28934576
TP53
T 0.740 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs28934576
rs28934576
TP53
A 0.740 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs28934576
rs28934576
TP53
G 0.740 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121912656
rs121912656
TP53
T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016