Gene Location [1]
Chromatin remodeling/DNA methylation

EZH2 Mutation is present in 1.20% of AACR GENIE cases, with lung adenocarcinoma, follicular lymphoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, and diffuse large B-cell lymphoma, not otherwise specified having the greatest prevalence [4].

Top Disease Cases with EZH2 Mutation

Significance of EZH2 Mutation in Diseases

Malignant Solid Tumor +

Myelodysplastic Syndromes +

Chronic Myelomonocytic Leukemia +

Acute Myeloid Leukemia +

Follicular Lymphoma +

Diffuse Large B-Cell Lymphoma +

Non-Hodgkin Lymphoma +

Secondary Acute Myeloid Leukemia +

Melanoma +

B-Cell Non-Hodgkin Lymphoma +

Lymphoma +

Therapy-Related Acute Myeloid Leukemia +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myelofibrosis +

Myelodysplastic/Myeloproliferative Neoplasm +

Therapy-Related Myelodysplastic Syndrome +

Anaplastic Astrocytoma +

Bladder Carcinoma +

Colorectal Carcinoma +

Glioblastoma +

Head And Neck Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Non-Small Cell Lung Carcinoma +

Ovarian Carcinoma +

Breast Carcinoma +

Sarcoma +

Multiple Myeloma +

Pancreatic Carcinoma +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Epithelioid Sarcoma +

Malignant Peripheral Nerve Sheath Tumor +

Plasma Cell Leukemia +

Rhabdoid Tumor +

Synovial Sarcoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. 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 8. 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.