Overview

Gene Location [1]
2q34
Pathways
Chromatin remodeling/DNA methylation, Metabolic signaling
Gene
IDH1

IDH1 Mutation is present in 2.98% of AACR GENIE cases, with malignant glioma, oligodendroglioma, astrocytoma, leukemia, and bile duct carcinoma having the greatest prevalence [4].

Top Disease Cases with IDH1 Mutation

Significance of IDH1 Mutation in Diseases

Glioma +

Acute Myeloid Leukemia +

Malignant Solid Tumor +

Cholangiocarcinoma +

Oligodendroglioma +

Astrocytoma +

Glioblastoma +

Myelodysplastic Syndromes +

Non-Small Cell Lung Carcinoma +

Breast Carcinoma +

Lymphoma +

Clear Cell Renal Cell Carcinoma +

Oligoastrocytoma +

WHO Grade II Glioma +

WHO Grade III Glioma +

Anaplastic Astrocytoma +

Chondrosarcoma +

Malignant Glioma +

Leukemia +

Melanoma +

Myelofibrosis +

Chronic Myelomonocytic Leukemia +

Bladder Carcinoma +

Pleural Mesothelioma +

Colorectal Carcinoma +

Gallbladder Carcinoma +

Mesothelioma +

Pancreatic Carcinoma +

Sarcoma +

Gastrointestinal Stromal Tumor +

Head And Neck Carcinoma +

Renal Cell Carcinoma +

Ependymoma +

Meningioma +

Multiple Myeloma +

Ovarian Carcinoma +

Papillary Renal Cell Carcinoma +

Peritoneal Mesothelioma +

Plasma Cell Leukemia +

Primary Central Nervous System Lymphoma +

Uveal Melanoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. San Francisco CA: Github;2015. https://github.com/biocommons/uta

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 4. 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.