|
Childhood Astrocytoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
IDH1 mutations of the R132C type are strongly associated with astrocytoma, while IDH2 mutations predominantly occur in oligodendroglial tumors.
|
19554337 |
2009 |
|
Fibrosarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, using a genetically engineered inducible system, we report that selective suppression of endogenous mutant IDH1 expression in HT1080, a fibrosarcoma cell line with a native IDH1(R132C) heterozygous mutation, significantly inhibits cell proliferation and decreases clonogenic potential.
|
22885298 |
2012 |
|
Childhood Osteosarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
On the other hand, IDH1 R132C inhibited expression of the ALPL gene in association with an increase in the repressive mark (H3K9me3), and subsequently inhibited the osteogenic properties of hMSCs and human osteosarcoma</span> cells.
|
26161668 |
2015 |
|
Spindle cell hemangioma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The R132C IDH1 mutation was identified by hydrolysis probes assay and confirmed by Sanger sequencing in 18 of 28 (64%) SCHs; of the 10 negative cases, 2 harbored a mutation in IDH2 (R172T and R172M) by Sanger sequencing.
|
23485734 |
2013 |
|
Neoplasms, Vascular Tissue
|
|
0.010 |
GeneticVariation
|
BEFREE |
R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vascular tumors or malformations.
|
23485734 |
2013 |
|
Polycythemia Vera
|
|
0.010 |
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 |
|
Adult Glioblastoma
|
|
0.010 |
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 |
|
Congenital Abnormality
|
|
0.010 |
GeneticVariation
|
BEFREE |
R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vascular tumors or malformations.
|
23485734 |
2013 |
|
Primary Myelofibrosis
|
|
0.010 |
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 |
CausalMutation
|
CLINVAR |
Prognostic relevance of integrated genetic profiling in acute myeloid leukemia.
|
22417203 |
2012 |
|
Leukemia, Myelocytic, Acute
|
|
0.740 |
CausalMutation
|
CLINVAR |
Molecular alterations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) metabolic genes and additional genetic mutations in newly diagnosed acute myeloid leukemia patients.
|
22397365 |
2012 |
|
Leukemia, Myelocytic, Acute
|
|
0.740 |
CausalMutation
|
CLINVAR |
Impact of genetic features on treatment decisions in AML.
|
22160010 |
2011 |
|
Leukemia, Myelocytic, Acute
|
|
0.740 |
CausalMutation
|
CLINVAR |
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 |
CausalMutation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Leukemia, Myelocytic, Acute
|
|
0.740 |
CausalMutation
|
CLINVAR |
The role of mutations in epigenetic regulators in myeloid malignancies.
|
22898539 |
2012 |
|
Leukemia, Myelocytic, Acute
|
|
0.740 |
CausalMutation
|
CLINVAR |
Recurring mutations found by sequencing an acute myeloid leukemia genome.
|
19657110 |
2009 |
|
Astrocytoma
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
MYELODYSPLASTIC SYNDROME
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Liver carcinoma
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Glioblastoma
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Adenoid Cystic Carcinoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Transitional cell carcinoma of bladder
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Mammary Neoplasms
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Adenocarcinoma of lung (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Adenocarcinoma of prostate
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |