|
rs55819519
|
|
Neoplasms
|
|
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 |
|
rs55819519
|
|
Glioblastoma
|
|
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 |
|
rs55819519
|
|
Glioblastoma Multiforme
|
|
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
|
|
Recurrent tumor
|
|
0.010 |
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
|
|
Glioblastoma
|
|
0.100 |
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 |
|
rs55819519
|
|
Glioblastoma Multiforme
|
|
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 |
|
rs55819519
|
|
Brain Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
A total of 343 brain tumors were studied for IDH1 and IDH2 mutations by direct sequencing and for protein expression by immunohistochemistry with mIDH1(R132H) antibody.
|
21643842 |
2011 |
|
rs55819519
|
|
Li-Fraumeni Syndrome
|
|
0.740 |
GeneticVariation
|
UNIPROT |
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.
|
17392385 |
2007 |
|
rs55819519
|
|
Li-Fraumeni Syndrome
|
|
0.740 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
|
24493721 |
2014 |
|
rs55819519
|
|
Glioblastoma
|
|
0.100 |
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 |
|
rs55819519
|
|
Glioblastoma Multiforme
|
|
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 |
|
rs55819519
|
|
Neoplasms
|
|
0.100 |
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 |
|
rs55819519
|
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
|
0.020 |
GeneticVariation
|
BEFREE |
An <i>IDH</i> mutation of R132H was preserved in the episodes of recurrence, but <i>ATRX</i> and <i>TP53</i> mutations were newly acquired and <i>TERT</i> promoter mutation C228T was lost at the most recent recurrence.
|
31508376 |
2019 |
|
rs55819519
|
|
Mixed Oligodendroglioma-Astrocytoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Because most studies that investigated the molecular phenotype of oligoastrocytomas have focused on IDH1 R132H mutated cases, we suggest further analyses on diffuse gliomas with heterogeneous (astrocytic and oligodendroglial) morphology before oligoastrocytoma is dismissed as a distinct nosological entity.
|
28419269 |
2017 |
|
rs55819519
|
|
Childhood Oligoastrocytoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Because most studies that investigated the molecular phenotype of oligoastrocytomas have focused on IDH1 R132H mutated cases, we suggest further analyses on diffuse gliomas with heterogeneous (astrocytic and oligodendroglial) morphology before oligoastrocytoma is dismissed as a distinct nosological entity.
|
28419269 |
2017 |
|
rs55819519
|
|
Pleomorphic Xanthoastrocytoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Both components were positive for the mutant IDH1 R132H and showed loss of ATRX expression, whereas BRAF V600E was restricted to the PXA-like component.
|
26414224 |
2016 |
|
rs55819519
|
|
Childhood Pleomorphic Xanthoastrocytoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Both components were positive for the mutant IDH1 R132H and showed loss of ATRX expression, whereas BRAF V600E was restricted to the PXA-like component.
|
26414224 |
2016 |
|
rs55819519
|
|
Brain Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
Cytosolic isocitrate dehydrogenase 1 (IDH1) with an R132H mutation in brain tumors loses its enzymatic activity for catalyzing isocitrate to α-ketoglutarate (α-KG) and acquires new activity whereby it converts α-KG to 2-hydroxyglutarate.
|
24077277 |
2013 |
|
rs55819519
|
|
Anaplastic Oligodendroglioma
|
|
0.010 |
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 |
|
rs55819519
|
|
Glioblastoma
|
|
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 |
|
rs55819519
|
|
Glioma
|
|
0.070 |
GeneticVariation
|
BEFREE |
For this study, 164 cases of glioma were evaluated immunohistochemically for IDH1 mutations (R132H and R132S) using anti-IDH1 mAbs (HMab-1 and SMab-1).
|
22396072 |
2012 |
|
rs55819519
|
|
Adenoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Genetic analysis disclosed allelic loss in one, and a point mutation (R290H) and a polymorphism (L257 L) in another of the two other adenomas with diffuse nuclear pleomorphism.
|
10571817 |
1999 |
|
rs55819519
|
|
Glioblastoma
|
|
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 |
|
rs55819519
|
|
Glioblastoma Multiforme
|
|
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 |
|
rs55819519
|
|
Childhood Glioblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here we show that SREBPs were up-regulated in U87 human glioblastoma cells transfected with an IDH1(R132H)-expression plasmid.
|
24077277 |
2013 |