Annotation Detail
Information
- Associated Genes
- MDM2
- Associated Variants
-
MDM2 MUTATION
MDM2 MUTATION - Associated Disease
- Liposarcoma, well differentiated
- Source Database
- DisGeNET
- Description
- Four cases of atypical lipomatous tumor/well-differentiated liposarcoma (4/26, 15%) with a low MDM2 and CDK4 amplification level (MDM2-CDK4/CEP12 ratio ranging between 2 and 2.5) detected by FISH showed no amplification by MLPA, although gain of MDM2 and CDK4 (ratios ranging between 1.6 and 1.9) was seen with MLPA.
- Pubmed
- 25679065
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 6
- Original source reporting the Gene Disease association
- BeFree,ORPHANET
- DisGENET score for the Gene Disease association
- 0.125157395569526
Drugs