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rs55819519
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|
Leukemia secondary
|
|
0.010 |
GeneticVariation
|
BEFREE |
We studied the development of somatic mutations in t-MN, using a collection of follow-up samples from 14 patients with a primary hematologic malignancy, who developed a secondary leukemia (13 t-MN and 1 t-acute lymphoblastic leukemia), at a median latency of 73 months (range 18-108) from primary cancer diagnosis.Using Sanger and next generation sequencing (NGS) approaches we identified 8 mutations (IDH1 R132H, ASXL1 Y591*, ASXL1 S689*, ASXL1 R693*, SRSF2 P95H, SF3B1 K700E, SETBP1 G870R and TP53 Y220C) in seven of thirteen t-MN patients (54%), whereas the t-ALL patient had a t(4,11) translocation, resulting in the KMT2A/AFF1 fusion gene.
|
28076841 |
2017 |
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rs55819519
|
|
Glioblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
We prospectively analyzed the clinical data over the course of the disease, baseline MR imaging, and histological characteristics (p53 overexpression, the Ki67 proliferation index, and presence of the IDH1 R132H mutation), in glioblastomas treated in a single hospital from November 2012 to July 2014.
|
28073027 |
2017 |
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rs55819519
|
|
Neoplasms
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|
0.100 |
GeneticVariation
|
BEFREE |
We found that the distribution of IDH1(R132H) , IDH1(nonR132H) , and IDH2 mutations differed between astrocytic, mixed, and oligodendroglial tumors, with an overrepresentation of IDH2 mutations in oligodendroglial phenotype and an overrepresentation of IDH1(nonR132H) in astrocytic tumors.
|
24877111 |
2014 |
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rs55819519
|
|
Glioblastoma
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|
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 |
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rs55819519
|
|
Anaplastic astrocytoma
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|
0.020 |
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 |
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rs55819519
|
|
Diffuse Astrocytoma
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|
0.010 |
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 |
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rs55819519
|
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Well Differentiated Oligodendroglioma
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|
0.040 |
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 |
|
rs55819519
|
|
oligodendroglioma
|
|
0.040 |
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 |
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rs55819519
|
|
Childhood Oligodendroglioma
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|
0.030 |
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 |
|
rs55819519
|
|
Adult Oligodendroglioma
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|
0.030 |
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 |
|
rs55819519
|
|
Retinoblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Using immunohistochemistry, we investigated expression of R132H IDH1, and p53 and retinoblastoma pathways.
|
22674453 |
2012 |
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rs55819519
|
|
Glioblastoma Multiforme
|
|
0.080 |
GeneticVariation
|
BEFREE |
Using antibody against p53 and IDH1 R132H, the authors immunohistochemically analyzed GBM tissue from patients who had undergone surgery at the University of Miyazaki Hospital during August 2005-December 2011.
|
25415071 |
2015 |
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rs55819519
|
|
Li-Fraumeni Syndrome
|
|
0.740 |
GeneticVariation
|
BEFREE |
Twenty-eight (82%) of these variants fell within the DNA-binding domain of TP53, with an enrichment for specific variants that were not previously identified as LFS mutation hotspots, such as the p.R290H and p.N235S variants.
|
28861920 |
2017 |
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rs55819519
|
|
Glioblastoma
|
|
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 Multiforme
|
|
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 |
|
rs55819519
|
|
Well Differentiated Oligodendroglioma
|
|
0.040 |
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 |
|
rs55819519
|
|
oligodendroglioma
|
|
0.040 |
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 |
|
rs55819519
|
|
Childhood Oligodendroglioma
|
|
0.030 |
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 |
|
rs55819519
|
|
Adult Oligodendroglioma
|
|
0.030 |
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 |
|
rs55819519
|
|
Glioblastoma
|
|
0.100 |
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 |
|
rs55819519
|
|
Glioblastoma Multiforme
|
|
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 |
|
rs55819519
|
|
Glioma
|
|
0.070 |
GeneticVariation
|
BEFREE |
This study analyses a series of 184 glioma cases in a tissue microarray (TMA)-based approach to assess the frequency of R132H point mutations in formalin-fixed, paraffin-embedded tissue samples.
|
23361281 |
2013 |
|
rs55819519
|
|
Glioma
|
|
0.070 |
GeneticVariation
|
BEFREE |
This case suggests that 1p/19q co-deletion may rarely precede IDH1 mutations or that IDH1 mutations may be secondarily lost, as demonstrated by IDH1-R132H positive and negative cells in a glioma with diffuse 1p/19q co-deletion.
|
25907263 |
2016 |
|
rs55819519
|
|
Nasopharyngeal carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The results suggested that the Arg399Gln polymorphism of XRCC1 gene, the 1G/2G polymorphism of MMP-1 gene, the RsaI polymorphism of CYP2E1 gene, the -1306C>T polymorphism of MMP-2 gene and the Arg72Pro polymorphism of p53 gene might be related to increased risks of nasopharyngeal carcinoma under different genetic comparison models, while the Arg194Trp and Arg280His polymorphisms of XRCC1 gene and the 309T>G polymorphism of MDM2 gene might not contribute to the risk of nasopharyngeal carcinoma.
|
25481674 |
2015 |
|
rs55819519
|
|
Well Differentiated Oligodendroglioma
|
|
0.040 |
GeneticVariation
|
BEFREE |
The reported two cases were initially diagnosed as oligodendroglioma with 1p/19q-codeletion and mutation of <i>isocitrate dehydrogenase 1 (IDH1)</i>-R132H.
|
31508376 |
2019 |