Gene

IDH1

isocitrate dehydrogenase (NADP(+)) 1

Explore in graph →CI-GENE-00005338HGNC:5382 ENSG00000138413 NCBI 3417 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (93)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 51–93 of 93 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
IDH1 R132G3
Temozolomide	Brain GliomaUNRESOLVED	Predictive	B	Supports Sensitivity Response	—	rejected

Cohorts

Alteration frequency by cohort (105)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved105 cohort rows (showing 50, sorted by frequency) · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Low-Grade Gliomas (UCSF, Science 2014) lgg_ucsf_2014	Diffuse Glioma	Ssm	61	61

Literature

Linked publications (25)

25 per page, newest first.

pubmedPublishedShowing 1–25 of 25 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Ivosidenib in IDH1-mutant, chemotherapy-refractory cholangiocarcinoma (ClarIDHy): a multicentre, randomised, double-blind, placebo-controlled, phase 3 study.
· Lancet Oncol · 2020 · PMID 32416072 · validated civic_curation pubmed
Vorasidenib in IDH1- or IDH2-Mutant Low-Grade Glioma.
· N Engl J Med · 2023 · PMID 37272516 · validated civic_curation pubmed
Durable Remissions with Ivosidenib in IDH1-Mutated Relapsed or Refractory AML.
· N Engl J Med · 2018 · PMID 29860938 · validated civic_curation pubmed
IDH1 and IDH2 mutations in gliomas.
· N Engl J Med · 2009 · PMID 19228619 · validated civic_curation pubmed

IDH1 R132H24
(diagnostic)	GlioblastomaCURATED_BROADER	Diagnostic	A	Supports Positive	5	submitted	EID8629 In the 2016 WHO classification for CNS tumors, IDH-mutant glioblastoma is recognized as a distinct entity. Whereas IDH-wildtype glioblastoma constitutes about 90% of cases and correspond to de novo gl… (full text at CIViC) PMID 27157931 · Louis et al., 2016 · Open in CIViC	civic
〃	Ganglioglioma	Diagnostic	B	Supports Negative	3	submitted	EID6125 Testing of 98 tumors diagnosed as gangliogliomas identified IDH1 R132H mutations in 8 patients. Mutation was associated with increased risk of recurrence (p=0.0007), malignant transformation and/or de… (full text at CIViC) PMID 21314850 · Horbinski et al., 2011 · Open in CIViC	civic
(oncogenic)	Astrocytic TumorCURATED_BROADER	Oncogenic	B	Supports Oncogenicity	3	submitted	EID13295 In a cohort of 55 paired primary and recurrent astrocytic tumors, IDH1 R132H was detected in 24/35 (68.6%) low-grade astrocytomas by R132H-specific immunohistochemistry. DNA sequencing of informative … (full text at CIViC) PMID 28928859 · Mu et al., 2017 · Open in CIViC	civic
〃	Glioma	Oncogenic	B	Supports Oncogenicity	3	submitted	EID13296 In a cohort of 685 primary brain tumors analyzed by direct sequencing, 221 somatic IDH1 codon-132 mutations were identified, of which 205 (92.7%) were IDH1 R132H. IDH1 codon-132 mutations were frequen… (full text at CIViC) PMID 18985363 · Balss et al., 2008 · Open in CIViC	civic
〃	Astrocytic TumorCURATED_BROADER	Oncogenic	B	Supports Oncogenicity	3	submitted	EID13297 In a cohort of 670 adult diffuse gliomas assessed by mutation-specific IDH1 R132H immunohistochemistry, IDH1 R132H was detected in 20/33 (60.6%) grade II astrocytomas and 17/32 (53.1%) anaplastic astr… (full text at CIViC) PMID 27120786 · Wang et al., 2016 · Open in CIViC	civic
〃	Astrocytic TumorCURATED_BROADER	Oncogenic	B	Supports Oncogenicity	3	submitted	EID13298 In a cohort of 1,010 WHO grade II-III diffuse gliomas assessed by direct sequencing, IDH1 R132H was identified in 143/227 (63.0%) diffuse astrocytomas and 132/228 (57.9%) anaplastic astrocytomas. Thes… (full text at CIViC) PMID 19554337 · Hartmann et al., 2009 · Open in CIViC	civic
〃	OligodendrogliomaCURATED_BROADER	Oncogenic	B	Supports Oncogenicity	3	submitted	EID13299 In a cohort of 1,010 WHO grade II-III diffuse gliomas assessed by direct sequencing, IDH1 R132H was identified in 103/128 (80.5%) oligodendrogliomas and 111/174 (63.8%) anaplastic oligodendrogliomas. … (full text at CIViC) PMID 19554337 · Hartmann et al., 2009 · Open in CIViC	civic
(functional)	—UNRESOLVED	Functional	D	Supports Gain Of Function	3	submitted	EID13246 In a study of IDH1/2-mutant acute myeloid leukemia, expression of IDH1 R132H in 293T cells markedly increased 2-hydroxyglutarate and global 5-methylcytosine levels compared with wild-type IDH1. IDH1 R… (full text at CIViC) PMID 21130701 · Figueroa et al., 2010 · Open in CIViC	civic
〃	—UNRESOLVED	Functional	D	Supports Neomorphic	3	submitted	EID13247 In a conditional knock-in mouse model, myeloid expression of IDH1 R132H increased 2-hydroxyglutarate levels and was associated with expansion of hematopoietic progenitor populations, including signifi… (full text at CIViC) PMID 22763442 · Sasaki et al., 2012 · Open in CIViC	civic
〃	—UNRESOLVED	Functional	D	Supports Neomorphic	3	submitted	EID13248 Boutzen et al. investigated IDH1 R132H in acute myeloid leukemia (AML) cell models and primary AML transcriptomic data. Compared with wild-type IDH1, R132H expression in HL60 and MOLM14 cells increase… (full text at CIViC) PMID 26951332 · Boutzen et al., 2016 · Open in CIViC	civic
〃	—UNRESOLVED	Functional	D	Supports Unknown	3	submitted	EID13249 Pierangeli et al. investigated the functional effect of IDH1 R132H in acute myeloid leukemia (AML)–associated leukemogenesis by expressing IDH1 R132H in primary human CD34+ hematopoietic stem and prog… (full text at CIViC) PMID 39123404 · Pierangeli et al., 2024 · Open in CIViC	civic
〃	—UNRESOLVED	Functional	D	Supports Neomorphic	3	submitted	EID13250 Losman et al. investigated the functional effects of IDH1 R132H in acute myeloid leukemia (AML)-relevant hematopoietic models. Expression of R132H in TF-1 human erythroleukemia cells markedly increase… (full text at CIViC) PMID 23393090 · Losman et al., 2013 · Open in CIViC	civic
〃	—UNRESOLVED	Functional	D	Supports Unknown	3	submitted	EID13251 Landberg et al. introduced IDH1 R132H into human CD34+ hematopoietic stem/progenitor cells using CRISPR/Cas9. R132H increased 2-hydroxyglutarate production and reduced myeloid and erythroid colony for… (full text at CIViC) PMID 38091010 · Landberg et al., 2024 · Open in CIViC	civic
〃	—UNRESOLVED	Functional	D	Supports Gain Of Function	3	submitted	EID13279 Dang et al. demonstrated that IDH1 R132H confers a neomorphic enzymatic activity. Expression of R132H in U87MG and LN-18 cells resulted in markedly increased 2-hydroxyglutarate (2HG) compared with wil… (full text at CIViC) PMID 19935646 · Dang et al., 2009 · Open in CIViC	civic
〃	—UNRESOLVED	Functional	D	Supports Loss Of Function	3	submitted	EID13280 Zhao et al. functionally characterized IDH1 R132H and demonstrated impaired normal IDH1 catalytic activity. R132H showed >80% reduced activity relative to wild-type IDH1 and a 94-fold increase in Km f… (full text at CIViC) PMID 19359588 · Zhao et al., 2009 · Open in CIViC	civic
〃	—UNRESOLVED	Functional	D	Supports Neomorphic	3	submitted	EID13284 Ward et al. demonstrated neomorphic enzymatic activity of IDH1 R132H resulting in 2-hydroxyglutarate (2HG) production. Cells expressing IDH1 R132H accumulated 2HG, whereas wild-type IDH1-expressing ce… (full text at CIViC) PMID 20171147 · Ward et al., 2010 · Open in CIViC	civic
AGI-5198	OligodendrogliomaCURATED_BROADER	Predictive	D	Supports Sensitivity Response	4	accepted	EID979 In pre-clinical studies, an IDH1 inhibitor (AG-5198) impaired growth of glioma / anaplastic oligodendroglioma cell lines with IDH1 R132H mutations. A phase I clinical trial of the AG-120 IDH1 inhibit… (full text at CIViC) PMID 23558169 · Rohle et al., 2013 · Open in CIViC	civic
BPTES	Brain GliomaUNRESOLVED	Predictive	D	Supports Sensitivity Response	—	submitted	EID2324 In an experimental study, glioma cells expressing IDH1 R132H were associated with sensitivity to the glutaminase inhibitor BPTES (bis-2-(5-phenylacetamido-1,2,4-thiadiazol-2-yl)ethyl sulfide), compara… (full text at CIViC) PMID 21045145 · Seltzer et al., 2010 · Open in CIViC	civic
Ivosidenib	Acute Myeloid LeukemiaCURATED_BROADER	Predictive	B	Supports Sensitivity Response	3	submitted	EID13075 In a multicenter phase I dose-escalation and expansion study, 125 patients with relapsed or refractory IDH1-mutated acute myeloid leukemia (AML) received ivosidenib 500 mg once daily. The complete rem… (full text at CIViC) PMID 29860938 · DiNardo et al., 2018 · Open in CIViC	civic
〃	Pancreatic Ductal Adenocarcinoma	Predictive	C	Does Not Support Sensitivity Response	2	accepted	EID5987 A 48-year-old female was diagnosed with metastatic pancreatic ductal adenocarcinoma and subsequently started on standard of care chemotherapy, during which her hepatic lesions progressed. Detailed mol… (full text at CIViC) PMID 27466707 · Brody et al., 2018 · Open in CIViC	civic
Olutasidenib	Acute Myeloid LeukemiaCURATED_BROADER	Predictive	B	Supports Sensitivity Response	4	submitted	EID13079 In a final five-year analysis of a multicenter phase 2 trial, 35 patients with relapsed/refractory IDH1 R132H-mutated acute myeloid leukemia (AML) received olutasidenib monotherapy. The overall respo… (full text at CIViC) PMID 41239466 · Cortes et al., 2025 · Open in CIViC	civic
Pan-Mutant-IDH1 Inhibitor Bay-1436032	GlioblastomaCURATED_BROADER	Predictive	D	Supports Sensitivity Response	—	submitted	EID2325 In an experimental study, glioblastoma cells expressing IDH1 R132H were associated with sensitivity to (bis-2-(5-phenylacetamido-1,2,4-thiadiazol-2-yl)ethyl sulfide), comparable to cells expressing wi… (full text at CIViC) PMID 21045145 · Seltzer et al., 2010 · Open in CIViC	civic
Temozolomide	Brain GliomaUNRESOLVED	Predictive	B	Supports Sensitivity Response	1	submitted	EID2019 Isocitrate dehydrogenases (IDH) are enzymes of the citric acid cycle catalyzing the oxidative decarboxylation of isocitrate to 2-oxoglutarate. IDH1 mutations at R132H are the most frequent mutations a… (full text at CIViC) PMID 21625441 · Krell et al., 2011 · Open in CIViC	civic
〃	Brain GliomaUNRESOLVED	Predictive	B	Supports Sensitivity Response	—	submitted	EID2323 In a study of 189 low-grade gliomas, IDH (IDH1 or IDH2) mutations were found in 132 patients (70%). IDH mutations were associated with improved rate of response to temozolomide compared to wildtype ID… (full text at CIViC) PMID 20975057 · Houillier et al., 2010 · Open in CIViC	civic

IDH1 R132H24

(diagnostic)

GlioblastomaCURATED_BROADER

Diagnostic

Supports Positive

submitted

EID8629

In the 2016 WHO classification for CNS tumors, IDH-mutant glioblastoma is recognized as a distinct entity. Whereas IDH-wildtype glioblastoma constitutes about 90% of cases and correspond to de novo gl… (full text at CIViC)

PMID 27157931 · Louis et al., 2016 · Open in CIViC

IDH1 R132L6
(oncogenic)	Myelodysplastic SyndromeCURATED_BROADER	Oncogenic	C	Supports Oncogenicity	2	submitted	EID13304 Lin et al. analyzed 168 patients with de novo myelodysplastic syndrome (MDS) and identified IDH1 mutations in 7/168 (4.2%), including R132H (n=3), R132C (n=3), and R132L (n=1). In analyses of paired M… (full text at CIViC) PMID 23996483 · Lin et al., 2014 · Open in CIViC	civic
(functional)	—UNRESOLVED	Functional	D	Supports Gain Of Function	3	submitted	EID13305 Dang et al. demonstrated that IDH1 R132L confers a neomorphic gain of enzymatic function. Recombinant R132L IDH1 acquired NADPH-dependent reduction of α-ketoglutarate, whereas wild-type IDH1 lacked me… (full text at CIViC) PMID 19935646 · Dang et al., 2009 · Open in CIViC	civic
〃	—UNRESOLVED	Functional	D	Supports Neomorphic	3	submitted	EID13306 Pusch et al. demonstrated variant-specific neo-enzymatic activity of IDH1 R132L. Purified R132L protein had a reported KM of 11.8 uM for α-ketoglutarate, and HEK293T cells expressing R132L produced si… (full text at CIViC) PMID 24529257 · Pusch et al., 2014 · Open in CIViC	civic
Ivosidenib	Acute Myeloid LeukemiaCURATED_BROADER	Predictive	B	Supports Sensitivity Response	—	rejected	EID2021 In a clinical study of 17 relapsed or refractory AML patients harboring IDH1 mutations, patients were associated with response to AG-120 monotherapy; 4/7 patients who achieved a response experienced c… (full text at CIViC) PMID 25583779 · 2015 · Open in CIViC	civic
Temozolomide	Brain GliomaUNRESOLVED	Predictive	B	Supports Sensitivity Response	—	rejected	EID2017 IDH1 mutations at R132H are the most frequent mutations accounting for 70- 90% of all IDH1 mutations in secondary glioblastoma and 5% of primary glioblastomas. PMID 18772396 · Parsons et al., 2008 · Open in CIViC	civic
〃	Brain GliomaUNRESOLVED	Predictive	B	Supports Sensitivity Response	—	submitted	EID2018 In a study of 189 low-grade gliomas, IDH (IDH1 or IDH2) mutations were found in 132 patients (70%). IDH mutations were associated with improved rate of response to temozolomide compared to wildtype ID… (full text at CIViC) PMID 20975057 · Houillier et al., 2010 · Open in CIViC	civic

IDH1 R132Q2
(oncogenic)	Chondrosarcoma	Oncogenic	D	Supports Oncogenicity	3	rejected	EID11195 Conditional knock-in of IDH1 R132Q in chondrocytes in of weaned mice resulted in the development of multiple enchondroma-like lesions. Enchondromas are benign cartilage tumors and precursors to malig… (full text at CIViC) PMID 25730874 · Hirata et al., 2015 · Open in CIViC	civic
〃	Chondrosarcoma	Oncogenic	D	Supports Oncogenicity	3	submitted	EID11196 Conditional knock-in of IDH1 R132Q in chondrocytes of weaned mice resulted in the development of multiple enchondroma-like lesions. Enchondromas are benign cartilage tumors and precursors to malignan… (full text at CIViC) PMID 25730874 · Hirata et al., 2015 · Open in CIViC	civic

IDH1 R132S6
Bevacizumab	High-Grade Glioma, NOS	Predictive	B	Supports Sensitivity Response	2	submitted	EID2339 In a clinical study of 63 recurrent glioma patients, patients treated with bevacizumab monotherapy (n=11) and harboring IDH1 codon 132 mutation were associated with improved progression free survival … (full text at CIViC) PMID 22199315 · Lv et al., 2011 · Open in CIViC	civic
Cetuximab	GlioblastomaCURATED_BROADER	Predictive	B	Supports Sensitivity Response	—	submitted	EID4033 In a clinical study of 63 recurrent glioma patients, de novo glioblastoma patients treated with cetuximab monotherapy (n=27) and harboring IDH1 codon 132 mutation were associated with improved overal… (full text at CIViC) PMID 22199315 · Lv et al., 2011 · Open in CIViC	civic
Ivosidenib	Acute Myeloid LeukemiaCURATED_BROADER	Predictive	B	Supports Sensitivity Response	—	submitted	EID2340 In a clinical study of 17 relapsed or refractory AML patients harboring IDH1 mutations, patients were associated with response to AG-120 monotherapy; 4/7 patients who achieved a response experienced c… (full text at CIViC) PMID 25583779 · 2015 · Open in CIViC	civic
Temozolomide	Brain GliomaUNRESOLVED	Predictive	B	Supports Sensitivity Response	—	rejected	EID2336 IDH1 mutations at R132H are the most frequent mutations accounting for 70- 90% of all IDH1 mutations in secondary glioblastoma and 5% of primary glioblastomas. PMID 18772396 · Parsons et al., 2008 · Open in CIViC	civic
〃	Brain GliomaUNRESOLVED	Predictive	B	Supports Sensitivity Response	—	submitted	EID2337 In a study of 189 low-grade gliomas, IDH (IDH1 or IDH2) mutations were found in 132 patients (70%). IDH mutations were associated with improved rate of response to temozolomide compared to wildtype ID… (full text at CIViC) PMID 20975057 · Houillier et al., 2010 · Open in CIViC	civic
〃	Brain GliomaUNRESOLVED	Predictive	B	Supports Sensitivity Response	—	rejected	EID2338 Isocitrate dehydrogenases (IDH) are enzymes of the citric acid cycle catalyzing the oxidative decarboxylation of isocitrate to 2-oxoglutarate. IDH1 mutations at R132H are the most frequent mutations a… (full text at CIViC) PMID 21625441 · Krell et al., 2011 · Open in CIViC	civic