|
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 |
|
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 |
|
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 |
|
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 |
|
Malignant Neoplasms
|
|
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 |
|
melanoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Melanomas from 10 separate patients (4.9%) were positive for IDH1 R132C (nine) or R132S (one).
|
30003571 |
2018 |
|
Hemangioma
|
|
0.020 |
GeneticVariation
|
BEFREE |
R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vascular tumors or malformations.
|
23485734 |
2013 |
|
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 |
|
Glioblastoma Multiforme
|
|
0.020 |
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 |
|
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 |
|
Li-Fraumeni Syndrome
|
|
0.020 |
GeneticVariation
|
BEFREE |
Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li-Fraumeni syndrome.
|
19340432 |
2009 |
|
Glioblastoma Multiforme
|
|
0.020 |
GeneticVariation
|
BEFREE |
In addition to the previously reported p.R132H and p.R132S alleles, we identified three novel somatic mutations (p.R132C, p.R132G, and p.R132L) affecting residue IDH1(R132) in GBM.
|
19117336 |
2009 |
|
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 |
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 |
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 |
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 |
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 |
|
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 |
|
Mammary Neoplasms
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Multiple Myeloma
|
|
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 |
|
Medulloblastoma
|
|
0.700 |
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 |