|
rs55819519
|
|
|
0.080 |
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 |
|
rs55819519
|
|
|
0.080 |
GeneticVariation |
BEFREE |
A total of 15.3% of enrolled GBMs demonstrated loss of ATRX expression (ATRX-), 10.4% expressed an aberrant IDH1 R132H protein (IDH1+), and 48.4% exhibited p53 overexpression (p53+).
|
27478330 |
2016 |
|
rs78378222
|
|
G |
0.710 |
GeneticVariation |
GWASCAT |
Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age.
|
30152087 |
2018 |
|
rs55819519
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Among the GBM cases it was noted that the IDH1 immunopositive tumors (R132H mutant protein; n=17) had a low MnSOD expression as opposed to IDH1 immunonegative tumors (n=106), which had high expression of MnSOD (p=0.0307).
|
26616112 |
2016 |
|
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 |
|
rs121913343
|
|
|
0.010 |
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 |
|
rs371409680
|
|
|
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 |
|
rs35850753
|
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association study identifies multiple susceptibility loci for glioma.
|
26424050 |
2015 |
|
rs78378222
|
|
G |
0.710 |
GeneticVariation |
GWASCAT |
Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.
|
28346443 |
2017 |
|
rs55819519
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Here we show that SREBPs were up-regulated in U87 human glioblastoma cells transfected with an IDH1(R132H)-expression plasmid.
|
24077277 |
2013 |
|
rs750893877
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Importantly, glioblastoma multiforme (GBM) patient tumors bearing TERT promoter mutations (C228T and C250T) known to be associated with increased telomerase activity; exhibited elevated Nrf2 and TKT expression and decreased glycogen accumulation.
|
27148686 |
2016 |
|
rs760043106
|
|
|
0.010 |
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 |
|
rs121912660
|
|
|
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 |
|
rs764803020
|
|
|
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 |
|
rs781490101
|
|
|
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 |
|
rs55819519
|
|
|
0.080 |
GeneticVariation |
BEFREE |
One index case with glioblastoma multiforme (GBM) diagnosed at age 54 and had a family history comprised of a paternal aunt with GBM at age 55, carried the p53 R158H mutation, which is predicted to be functional and has previously been implicated as a cause of Li-Fraumeni syndrome.
|
20455025 |
2010 |
|
rs587782144
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One index case with glioblastoma multiforme (GBM) diagnosed at age 54 and had a family history comprised of a paternal aunt with GBM at age 55, carried the p53 R158H mutation, which is predicted to be functional and has previously been implicated as a cause of Li-Fraumeni syndrome.
|
20455025 |
2010 |
|
rs1042522
|
|
|
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 |
|
rs1131691014
|
|
|
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 |
|
rs878854066
|
|
|
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 |
|
rs78378222
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The association between rs78378222 and risk was seen for both glioblastoma multiforme (GBM) and non-GBM tumours.
|
23571737 |
2013 |
|
rs28934576
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The impact of arsenic trioxide and all-trans retinoic acid on p53 R273H-codon mutant glioblastoma.
|
24399651 |
2014 |
|
rs55819519
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Three GBM-O samples had IDH1 (p.R132H) mutations; two of these also demonstrated 1p/19q co-deletion and had a proneural transcriptional profile, a molecular signature characteristic of oligodendroglioma.
|
26757882 |
2016 |
|
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 |
|
rs55819519
|
|
|
0.080 |
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 |