Location [1]
Synonyms [1]

Wolf-Hirschhorn syndrome candidate 1 (WHSC1; also known as MMSET or NSD2) is a gene that encodes a protein that functions as a histone methyltransferase that is implicated in the development in Wolf-Hirschhorn syndrome. Fusions, missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

WHSC1 is altered in 1.52% of all cancers with colon adenocarcinoma, lung adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and cutaneous melanoma having the greatest prevalence of alterations [3].

WHSC1 GENIE Cases - Top Diseases

The most common alterations in WHSC1 are WHSC1 Mutation (1.64%), WHSC1 Amplification (0.25%), WHSC1 Loss (0.16%), WHSC1 E1099K (0.11%), and WHSC1 T1150A (0.02%) [3].

WHSC1 GENIE Cases - Top Alterations

Significance of WHSC1 in Diseases

Multiple Myeloma +

Plasma Cell Leukemia +

Mantle Cell Lymphoma +

Non-Hodgkin Lymphoma +

Hodgkin Lymphoma +

Acute Myeloid Leukemia +

Acute Lymphoblastic Leukemia +

Chronic Lymphocytic Leukemia +

Chronic Myeloid Leukemia +

Myelodysplastic Syndromes +

Lymphoma +

Diffuse Large B-Cell Lymphoma +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Aplastic Anemia +

Chronic Myelomonocytic Leukemia +

Double-Hit Lymphoma +

Lymphoblastic Lymphoma +

Plasmacytoma +

Prolymphocytic Leukemia +

Therapy-Related Chronic Myelomonocytic Leukemia +

Therapy-Related Myelodysplastic Syndrome +

Triple-Hit Lymphoma +


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 8. 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.