rs121913500, IDH1

N. diseases: 96
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.010 GeneticVariation BEFREE This study demonstrates that IDH1 R132H mutation with increased oncometabolite R-2HG in PCa cells may play important roles to increase PCa cell invasion. 31846689 2020
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.010 GeneticVariation BEFREE Preclinical studies with an in vivo xenograft mouse model also revealed that PCa cells with the IDH1 R132H mutation have more invasive metastasis. 31846689 2020
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE This study demonstrates that IDH1 R132H mutation with increased oncometabolite R-2HG in PCa cells may play important roles to increase PCa cell invasion. 31846689 2020
Glioblastoma, IDH-Wildtype
CUI: C1514422
Disease: Glioblastoma, IDH-Wildtype
0.010 GeneticVariation BEFREE IDH1 (R132H) mutation was observed in 5/75 primary GBs. 31479414 2020
Neoplasm, Residual
CUI: C0242596
Disease: Neoplasm, Residual
0.010 GeneticVariation BEFREE In addition to WT1 overexpression, other MRD positive markers were: NPM1 (Type A, B, K), DNMT3A (R882H), MLL-PTD, IDH1 (R132H) and KRAS (G12S). 30457973 2019
Malignant neoplasm of brain
CUI: C0153633
Disease: Malignant neoplasm of brain
0.010 GeneticVariation BEFREE The R132H mutation in isocitrate dehydrogenase 1 (IDH1<sup>R132H</sup>) is commonly observed and associated with better survival in glioblastoma multiforme (GBM), a malignant brain tumor. 31151327 2019
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.010 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
Atypical Lipoma
CUI: C1266129
Disease: Atypical Lipoma
0.010 GeneticVariation BEFREE Because many ALT tumors express the mutant isocitrate dehydrogenase IDH1 R132H, including all lower grade astrocytomas and secondary glioblastoma, we examined a hypothesized role for IDH1 R132H in driving the ALT phenotype during gliomagenesis. 29545335 2018
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE In this study, we suggest an innovative model for IDH1 R132H/Fibulin-5 pathway, which could throw light upon the activity of IDH1 R132H in NSCLC. 30305430 2018
Epileptic Seizures
CUI: C4317109
Disease: Epileptic Seizures
0.010 GeneticVariation BEFREE In a multivariate analysis, high xCT expression and WHO tumor grade but not IDH1 R132H mutation, were significantly associated with epileptic seizures at diagnosis (odds ratio 2.2, p = 0.02). 29404978 2018
Leukemia secondary
CUI: C0856053
Disease: 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
Spinal Cord Neoplasms
CUI: C0037930
Disease: Spinal Cord Neoplasms
0.010 GeneticVariation BEFREE Genetic analysis of both the supratentorial and spinal tumours revealed R132H IDH1 mutations, providing evidence that the spinal cord lesion had spread from the supratentorial tumour. 28089418 2017
High grade glioma
CUI: C4722099
Disease: High grade glioma
0.010 GeneticVariation BEFREE En bloc resection revealed a high-grade glioma with sarcomatous components that was immunoreactive for the R132H variant of IDH1 by antibody. 27153165 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.010 GeneticVariation BEFREE In both gastric and colorectal cancer, expression of IDH1-R132H was associated with tumor stage. 27655638 2016
Malignant neoplasm of gastrointestinal tract
0.010 GeneticVariation BEFREE Our data indicate that IDH1-R132H expression could be used as a predictive marker of prognosis for patients with gastrointestinal cancer. 27655638 2016
Uveal melanoma
CUI: C0220633
Disease: Uveal melanoma
0.010 GeneticVariation BEFREE All 50 of the uveal melanoma cases demonstrated negativity for IDH1-R132H by immunohistochemistry. 27155448 2016
Intrahepatic Cholangiocarcinoma
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
0.010 GeneticVariation BEFREE Immunohistochemistry using monoclonal antibody MsMab-2 is useful to detect IDH1 R132L in intrahepatic cholangiocarcinoma. 27595804 2016
Primary cholangiocarcinoma of intrahepatic biliary tract
0.010 GeneticVariation BEFREE Immunohistochemistry using monoclonal antibody MsMab-2 is useful to detect IDH1 R132L in intrahepatic cholangiocarcinoma. 27595804 2016
Adult Anaplastic Oligodendroglioma
CUI: C0280790
Disease: Adult Anaplastic Oligodendroglioma
0.010 GeneticVariation BEFREE The R132H IDH1 mutation was identified in 43/117 tumor samples and R172K IDH2 mutation was detected in only one anaplastic oligodendroglioma. 27268645 2016
Childhood Anaplastic Oligodendroglioma
0.010 GeneticVariation BEFREE The R132H IDH1 mutation was identified in 43/117 tumor samples and R172K IDH2 mutation was detected in only one anaplastic oligodendroglioma. 27268645 2016
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE In both gastric and colorectal cancer, expression of IDH1-R132H was associated with tumor stage. 27655638 2016
Pilocytic astrocytoma of cerebellum
CUI: C0349620
Disease: Pilocytic astrocytoma of cerebellum
0.010 GeneticVariation BEFREE We present the case of a 72-year old female with a right cerebellar pilocytic astrocytoma WHO grade I with an Isocitrate dehydrogenase 1 (IDH1) R132H mutation. 26617931 2015
Adult Pilocytic Astrocytoma
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
0.010 GeneticVariation BEFREE IDH1 R132H mutation in a pilocytic astrocytoma: a case report. 26617931 2015
Recurrent Childhood Glioblastoma
CUI: C3897752
Disease: Recurrent Childhood Glioblastoma
0.010 GeneticVariation BEFREE The aim of this study was to explore the difference in high mobility group A1 (HMGA1) expression and isocitrate dehydrogenase (IDH) 1 R132H point mutation in initial and recurrent glioblastoma multiforme (GBM), and to further identify whether the expression of HMGA1 has a role in the malignant progression of GBM. 26092597 2015
Childhood Pilocytic Astrocytoma
CUI: C1332995
Disease: Childhood Pilocytic Astrocytoma
0.010 GeneticVariation BEFREE IDH1 R132H mutation in a pilocytic astrocytoma: a case report. 26617931 2015