Variant | Gene | Type | COSMIC ID | DNA Change (Coding Nucleotide) | Exon |
---|---|---|---|---|---|
MDM2 copy number gain | MDM2 | CNV | |||
MDM2 copy number loss | MDM2 | CNV | |||
MDM2 any mutation | MDM2 | any |
MDM2 encodes an E3 ubiquitin ligase that regulates tumor suppressor protein (eg, TP53) turnover through proteasomal degradation. MDM2 overexpression or amplification has been detected in a variety of different cancers including a subset of bladder cancer. Small molecular inhibitors of the MDM2:p53 axis are currently in early phase clinical trials for a number of malignancies.
MDM2 encodes a nuclear-localized E3 ubiquitin ligase that may promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. Overexpression or amplification of this locus has been detected in a variety of different cancers. MDM2 copy number gain has been shown to be useful in distinguishing dedifferentiated liposarcoma from spindle and pleomorphic sarcomas . The prognostic value of MDM2 copy number gain remains to be fully elucidated. Small molecular inhibitors of the MDM2:p53 axis are currently in early phase clinical trials for a number of malignancies.
This gene is a known cancer gene.
This gene is a known cancer gene.