Overview

Location [1]
7q36.1
Pathway
Chromatin remodeling/DNA methylation
Protein [2]
Histone-lysine N-methyltransferase EZH2
Synonyms [1]
ENX-1, EZH2b, ENX1, WVS2, KMT6, WVS, KMT6A

Enhancer of zeste 2 polycomb repressive complex 2 subunit (EZH2) is a gene that encodes the histone-lysine N-methyltransferase EZH2 protein. EZH2 is a member of the polycomb-group family. Members of this family suppress transcription of genes and are involved in embryonic development and cellular differentiation (Gene 2014Genetics Home Reference 2014). EZH2 mutations have been observed in myelodysplastic syndromes, lymphoma, colorectal cancer, and endometrial cancer. In MDS, these mutations often involve deletions or translocations which are believed to be associated with loss of function. Paradoxically, mutations in lymphomas and epithelial neoplasms are thought to involve gain of function.​

EZH2 is altered in 1.19% of all cancers with acute myeloid leukemia, lung adenocarcinoma, cutaneous melanoma, breast invasive ductal carcinoma, and colon adenocarcinoma having the greatest prevalence of alterations [3].

EZH2 GENIE Cases - Top Diseases

The most common alterations in EZH2 are EZH2 Mutation (1.45%), EZH2 c.1864-c.2195 Missense (0.47%), EZH2 Amplification (0.16%), EZH2 Nonsense (0.11%), and EZH2 Frameshift (0.11%) [3].

EZH2 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of EZH2 in Diseases

Follicular Lymphoma +

Malignant Solid Tumor +

Acute Myeloid Leukemia +

Diffuse Large B-Cell Lymphoma +

Chronic Myelomonocytic Leukemia +

Myelodysplastic Syndromes +

Non-Hodgkin Lymphoma +

Multiple Myeloma +

B-Cell Non-Hodgkin Lymphoma +

Myelofibrosis +

Lymphoma +

Myeloid Neoplasm +

Melanoma +

Anaplastic Astrocytoma +

Colorectal Carcinoma +

Bladder Carcinoma +

Glioblastoma +

Ovarian Carcinoma +

Non-Small Cell Lung Carcinoma +

Breast Carcinoma +

Sarcoma +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Epithelioid Sarcoma +

Head And Neck Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Myelodysplastic Syndrome With Excess Blasts-2 +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Pancreatic Carcinoma +

Plasma Cell Leukemia +

Rhabdoid Tumor +

Secondary Acute Myeloid Leukemia +

Synovial Sarcoma +

Therapy-Related Acute Myeloid Leukemia +

Therapy-Related Myelodysplastic Syndrome +

References

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. 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.

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