Biomarkers /
NSD1
Overview
Nuclear receptor binding SET domain protein 1 (NSD1) is a gene that encodes a protein that functions in the enhancement of androgen receptor transactivation. The protein may also be a nucleus-localized, basic transcriptional factor and bi-functional transcriptional regulator. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.
NSD1 is altered in 3.13% of all cancers with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and cutaneous melanoma having the greatest prevalence of alterations [3].
The most common alterations in NSD1 are NSD1 Mutation (2.66%), NSD1 Amplification (0.20%), NSD1 Loss (0.05%), NSD1 R1031* (0.02%), and NSD1 P493L (0.07%) [3].
Clinical Trials
Significance of NSD1 in Diseases
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 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.