Associated Genetic Biomarkers


Gene Location [1]
Chromatin remodeling/DNA methylation, Metabolic signaling

IDH1 Mutation is present in 2.65% of AACR GENIE cases, with oligodendroglioma, anaplastic astrocytoma, astrocytoma, acute myeloid leukemia, and conventional glioblastoma multiforme having the greatest prevalence [4].

Top Disease Cases with IDH1 Mutation

Significance of IDH1 Mutation in Diseases

Glioma +

Malignant Solid Tumor +

Acute Myeloid Leukemia +

Malignant Glioma +

Cholangiocarcinoma +

Glioblastoma +

Lymphoma +

Oligodendroglioma +

Anaplastic Astrocytoma +

Astrocytoma +

Chondrosarcoma +

Myelodysplastic Syndromes +

Non-Small Cell Lung Carcinoma +

Breast Carcinoma +

Clear Cell Renal Cell Carcinoma +

Ependymoma +

WHO Grade II Glioma +

WHO Grade III Glioma +

Oligoastrocytoma +

Anaplastic Oligodendroglioma +

Diffuse Glioma +

Leukemia +

Melanoma +

Sarcoma +

Bladder Carcinoma +

Colorectal Carcinoma +

Pancreatic Carcinoma +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Ependymoma +

Anaplastic Oligodendroglioma, IDH-Mutant And 1p/19q-Codeleted +

Anaplastic Pleomorphic Xanthoastrocytoma +

Atypical Teratoid/Rhabdoid Tumor +

Central Nervous System Embryonal Neoplasm +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Chronic Myelomonocytic Leukemia +

Diffuse Midline Glioma, H3 K27M-Mutant +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma, RELA Fusion-Positive +

Gallbladder Carcinoma +

Gastrointestinal Stromal Tumor +

Head And Neck Carcinoma +

High-Grade Glioma, NOS +

Histiocytosis +

Medulloblastoma +

Medulloblastoma, Non-WNT/Non-SHH +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Meningioma +

Mesothelioma +

Multiple Myeloma +

Myelodysplastic Syndrome With Excess Blasts-2 +

Myelofibrosis +

Ovarian Carcinoma +

Papillary Renal Cell Carcinoma +

Peritoneal Mesothelioma +

Plasma Cell Leukemia +

Pleural Mesothelioma +

Primary Brain Neoplasm +

Primary Central Nervous System Lymphoma +

Renal Cell Carcinoma +

Schwannoma +

Uveal Melanoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015.

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.