Annotation Detail

Information
Associated Genes
MDM2
Associated Variants
MDM2 MUTATION
MDM2 MUTATION
Associated Disease
Lipomatosis, Multiple
Source Database
DisGeNET
Description
To discriminate lipomas from atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDL) we perform fluorescence in situ hybridization (FISH) for MDM2 amplification in several problematic situations: lipomas >10 cm, lesions with equivocal atypia, recurrent lipomas, all retroperitoneal/pelvic/abdominal lipomas, and in cases not fitting the above criteria but having worrisome clinical or radiologic features.
Pubmed
26146760
Section of the abstract supporting the evidence
ALL_TEXT_1/3
Number of the section of the abstract supporting the evidence
1
Number of the sentence supporting the evidence
1
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00244297684872273
Drugs