|
Leukemia, Myelocytic, Acute
|
|
0.740 |
GeneticVariation
|
BEFREE |
IDH1 mutations included R132C (n=4; two post-PMF AML, one post-PV AML and one PMF) and R132S (n=1; post-PMF AML).
|
20410924 |
2010 |
|
Leukemia, Myelocytic, Acute
|
|
0.740 |
GeneticVariation
|
BEFREE |
Except for one non-Hodgkin lymphoma (NHL) patient harboring IDH1 mutation p.R132C, all IDH1 and IDH2 missense mutations were observed in patients with AML.
|
20946881 |
2010 |
|
Leukemia, Myelocytic, Acute
|
|
0.740 |
GeneticVariation
|
BEFREE |
The IDH1 R132C mutation commonly found in AML reduces the affinity for isocitrate, and increases the affinity for NADPH and alpha-KG.
|
20142433 |
2010 |
|
Leukemia, Myelocytic, Acute
|
|
0.740 |
GeneticVariation
|
BEFREE |
The frequency of IDH1/2 mutations was 56%, and the IDH1 R132C mutation, which is not common in diffuse gliomas or AML, accounted for 40% of these mutations.
|
22323113 |
2012 |
|
Glioma
|
|
0.720 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Astrocytoma
|
|
0.720 |
GeneticVariation
|
BEFREE |
Without exception, all were R132C (CGT-->TGT), which in sporadic astrocytomas accounts for <5% of IDH1 mutations.
|
19340432 |
2009 |
|
Glioma
|
|
0.720 |
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 |
|
Glioma
|
|
0.720 |
GeneticVariation
|
BEFREE |
We newly established an anti-IDH1-R132S-specific mAb SMab-1 for use in diagnosis of mutation-bearing gliomas.
|
21352804 |
2011 |
|
Astrocytoma
|
|
0.720 |
GeneticVariation
|
BEFREE |
IDH1 mutations of the R132C type are strongly associated with astrocytoma, while IDH2 mutations predominantly occur in oligodendroglial tumors.
|
19554337 |
2009 |
|
MYELODYSPLASTIC SYNDROME
|
|
0.710 |
GeneticVariation
|
BEFREE |
In the current study of 277 patients with MDS, IDH mutations were detected in 34 (12%) cases: 26 IDH2 (all R140Q) and 8 IDH1 (6 R132S and 2 R132C).
|
22033490 |
2012 |
|
Colorectal Carcinoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
Isocitrate dehydrogenase 1 R132C mutation occurs exclusively in microsatellite stable colorectal cancers with the CpG island methylator phenotype.
|
25496513 |
2014 |
|
Colorectal Carcinoma
|
|
0.710 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Glioblastoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
Furthermore, SMab-1 specifically stained the IDH1-R132S-expressing glioblastoma cells in immunocytochemistry and immunohistochemistry, but did not react with IDH1-WT or IDH1-R132H-containing glioblastoma cells.
|
21352804 |
2011 |
|
Liver carcinoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
Three cases in iCC (6.5%) and five cases in HCC (10.4%) had IDH1 mutation, all of which were Arg132Cys.
|
28403884 |
2017 |
|
Neoplasms
|
|
0.060 |
GeneticVariation
|
BEFREE |
We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions).
|
22057234 |
2011 |
|
Neoplasms
|
|
0.060 |
GeneticVariation
|
BEFREE |
A majority of the tumors harbored an IDH1 mutation (p.R132H in 3 tumors; p.R132C in 4 tumors from 2 patients; p.R132L and p.R132G in one tumor each).
|
31240473 |
2019 |
|
Neoplasms
|
|
0.060 |
GeneticVariation
|
BEFREE |
IDH1 mutations of the R132C type are strongly associated with astrocytoma, while IDH2 mutations predominantly occur in oligodendroglial tumors.
|
19554337 |
2009 |
|
Neoplasms
|
|
0.060 |
GeneticVariation
|
BEFREE |
Based on the overall analysis, 13 samples from 11 tumors had an R132H mutation and one tumor showed an R132G mutation.
|
23358936 |
2013 |
|
Neoplasms
|
|
0.060 |
GeneticVariation
|
BEFREE |
This is the first report to establish anti-IDH1-R132G-specific mAbs, which is useful in immunohistochemistry of IDH1-R132G-bearing tumors.
|
23485467 |
2013 |
|
Neoplasms
|
|
0.060 |
GeneticVariation
|
BEFREE |
A majority of the tumors harbored an IDH1 mutation (p.R132H in 3 tumors; p.R132C in 4 tumors from 2 patients; p.R132L and p.R132G in one tumor each).
|
31240473 |
2019 |
|
Neoplasms
|
|
0.060 |
GeneticVariation
|
BEFREE |
We show that in 37 of 40 individuals with these syndromes, at least one tumor has a mutation in isocitrate dehydrogenase 1 (IDH1) or in IDH2, 65% of which result in a R132C substitution in the protein.
|
22057236 |
2011 |
|
Hemangioma
|
|
0.020 |
GeneticVariation
|
BEFREE |
We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions).
|
22057234 |
2011 |
|
melanoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
A somatic, heterozygous IDH1 c.C394T (p.R132C) mutation was identified in one human melanoma metastasis to the lung.
|
20603105 |
2010 |
|
Malignant Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
Literature search revealed a virtual absence of IDH2 R172 and IDH1 R132S mutations in >1000 cases of 8 different malignancies included in the differential diagnosis of sinonasal undifferentiated carcinoma.
|
30206411 |
2019 |
|
Li-Fraumeni Syndrome
|
|
0.020 |
GeneticVariation
|
BEFREE |
One patient was diagnosed with multicentric isocitrate dehydrogenase 1 (IDH1) mutated diffuse astrocytomas harboring distinct IDH1 mutations, R132H and R132C; the latter mutation has been associated with Li-Fraumeni syndrome, which was subsequently confirmed in the patient's germline DNA and shown in additional cases with The Cancer Genome Atlas data.
|
29077933 |
2018 |