Biomarkers /
MDM2
Overview
MDM2 proto-oncogene, E3 ubiquitin protein ligase (MDM2) is a gene that encodes a protein that functions as a nuclear-localized E3 ubiquitin ligase. Missense mutations, silent mutations, frameshift deletions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.
MDM2 is altered in 3.14% of all cancers with lung adenocarcinoma, dedifferentiated liposarcoma, breast invasive ductal carcinoma, bladder urothelial carcinoma, and conventional glioblastoma multiforme having the greatest prevalence of alterations [3].
The most common alterations in MDM2 are MDM2 Amplification (2.85%), MDM2 Mutation (0.56%), MDM2 Fusion (0.11%), MDM2 Loss (0.02%), and MDM2 S304F (0.02%) [3].
Clinical Trials
Significance of MDM2 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.