rs118101777, IDH2

N. diseases: 42
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Neither tumor stained with antibody to IDH-1 (R132H). 31677487 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Selecting cases with negative BCAT1 and R132H-mutant IDH1 staining for DNA sequencing of IDH1/2 genes could improve the cost-effectiveness of detecting IDH mutations particularly in tumors with low IDH mutation rates, and confine the need of 1p/19q assay in IDH-mutant tumors. 30113684 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 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
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Median PFS for patients with IDH-mutant 1p19q-codeleted, IDH-mutant 1p19q-intact, and IDH1-R132H-wildtype tumors were 113 months, 56 months, and not reached, respectively. 31022510 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE These data indicate that IHC is a highly specific and sensitive tool to detect IDH1 p.R132H mutation in bone marrow involved by myeloid neoplasms. 29635257 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE The tumor samples were histologically reviewed and subsequently assessed for p53 and survivin expression and the presence of the IDH R132H mutation by immunohistochemistry. p53 expression levels and survivin subcellular localization patterns were correlated with histological classification and clinical outcome. 29374392 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Patients underwent surgical resection, and tumor samples underwent immunohistochemistry for IDH-1 R132H mutations. 27849434 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE After surgery, tumor samples were subjected to immunohistochemistry for ATRX and IDH1-R132H followed by IDH1/2 sequencing. 28251430 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE In the large majority (>80%) of tumors IDH mutations, both IDH1-R132H and the non-canonical ones, were present in the large majority (>80%) of neoplastic cells. 28748342 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE IDH1(R132H) mutation was analysed by immunohistochemistry with the mutation-specific IDH1(R132H) antibody in 1011 patients, including 922 central nervous system (CNS) tumours and 89 non-neoplastic CNS lesions, and PCR-based direct sequencing of IDH1/2 gene mutation in 570 of these samples. 27780605 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE HMab-2 is expected to be useful for the diagnosis of IDH1-R132H-bearing tumors. 26381180 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Our study provides direct evidence that the improved survival in patients with IDH1-R132H tumors may partly result from the effects of the IDH1-R132H protein on chemosensitivity. 25283382 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE The IDH1 R132H mutation was assessed by the RT-PCR in the tumor samples from 45 GBM patients treated in the Faculty Hospital in Pilsen and was correlated with the progression free and overall survival. 24511544 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE LC-MS and in situ mass spectrometric imaging by LESA-nano ESI-FTICR revealed high levels of the proposed oncometabolite D-2-hydroxyglutarate (D-2HG), the product of enzymatic conversion of α-ketoglutarate (α-KG) by IDH1-R132H, in the tumor but not in surrounding brain parenchyma. 24252742 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Here we show that heterozygous expression of the IDH1(R132H) allele is sufficient to induce the genome-wide alterations in DNA methylation characteristic of these tumors. 22899282 2012
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 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