Overview

Location [1]
12q15
Pathways
DNA damage/repair, Protein degradation/ubiquitination
Protein [2]
E3 ubiquitin-protein ligase Mdm2
Synonyms [1]
ACTFS, hdm2, HDMX

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 3.37% of all cancers with non-small cell lung carcinoma, sarcoma, breast carcinoma, malignant glioma, and bladder carcinoma having the greatest prevalence of alterations [3].

MDM2 GENIE Cases - Top Diseases

The most common alterations in MDM2 are MDM2 Amplification (2.83%), MDM2 Mutation (0.61%), MDM2 L321Ffs*52 (0.03%), MDM2 R185Q (0.01%), and MDM2 S304F (0.01%) [3].

MDM2 GENIE Cases - Top Alterations

Significance of MDM2 in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Breast Carcinoma +

Prostate Carcinoma +

Ovarian Carcinoma +

Colorectal Carcinoma +

Non-Hodgkin Lymphoma +

Urothelial Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Soft Tissue Sarcoma +

Cholangiocarcinoma +

Gastric Carcinoma +

Cervical Carcinoma +

Small Cell Lung Carcinoma +

Glioblastoma +

Lung Adenocarcinoma +

Non-Small Cell Lung Carcinoma +

Squamous Cell Lung Carcinoma +

Endometrial Carcinoma +

Pancreatic Carcinoma +

Anal Carcinoma +

Pancreatic Adenocarcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Clear Cell Renal Cell Carcinoma +

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

Acute Lymphoblastic Leukemia +

Mesothelioma +

Diffuse Large B-Cell Lymphoma +

Head And Neck Squamous Cell Carcinoma +

Lymphoma +

Acute Biphenotypic Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Myeloid Leukemia +

Fallopian Tube Carcinoma +

Hepatoblastoma +

Histiocytic And Dendritic Cell Neoplasm +

Mantle Cell Lymphoma +

Mixed Phenotype Acute Leukemia +

Multiple Myeloma +

Penile Carcinoma +

Peritoneal Carcinoma +

Retinoblastoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.