MDM2, MDM2 proto-oncogene, 4193

N. diseases: 702; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 AlteredExpression disease BEFREE We present detailed analysis of TP53 mutations and MDM2 and COPS3 expression levels in a set of 23 OS. 12917637 2003
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 AlteredExpression disease BEFREE We found that adenovirus-wt p53 (Ad-wt p53) induces significant apoptosis in HT1080 fibrosarcoma cells expressing low levels of Mdm2, but fails to induce apoptosis in SJSA osteosarcoma cells expressing high levels of Mdm2. 15026814 2004
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 GeneticVariation disease BEFREE Future studies are needed to further assess the effects of MDM2 polymorphisms on the risk and survival of osteosarcoma. 24122202 2014
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE A few cases of ESOS with MDM2 amplification have also been reported, suggesting some similarity to skeletal low-grade osteosarcoma such as parosteal osteosarcoma, where MDM2 is often amplified. 28235629 2017
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE Amplification of MDM2 was detected in all five low-grade and four high-grade osteosarcomas, all of which showed ring chromosomes. 11793439 2002
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE While p53 mutations and MDM2 amplification have been reported to occur in rhabdomyosarcoma and osteogenic sarcoma, the incidence of MDM2 in other pediatric solid tumors is not known. 8261417 1993
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE We also observed that a dedifferentiated OS harboring MDM2 amplification did not carry any other mutations. 26787232 2016
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE The results showed that MDM2 and/or CDK4 immunoreactivity was present in 89% of low-grade osteosarcoma specimens. 21336260 2011
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE In an effort to identify novel Mdm2 binding partners, we performed a large-scale immunoprecipitation of Mdm2 in the osteosarcoma U2OS cell line. 20547751 2010
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 AlteredExpression disease BEFREE Two follicular lymphomas, three leukaemias, both hepatocellular carcinomas, and the osteosarcoma sample showed transcription of the activated MDM2 gene. 9227342 1997
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 GeneticVariation disease BEFREE Results from this study indicated that the allele-A and genotype-AA of MDM2 c.346G>A genetic variant could be an increased risk factor for the susceptibility to osteosarcoma and might be used as a potential molecular marker for evaluating the risk of osteosarcoma. 25551700 2015
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 AlteredExpression disease BEFREE We found that the HDMX-S/HDMX-FL ratio associated with common somatic genetic lesions connected with p53 inhibition, such as p53 mutation and HDM2 overexpression in osteosarcoma cell lines. 22700878 2012
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE A fluorinated indole-based MDM2 antagonist selectively inhibits the growth of p53<sup>wt</sup> osteosarcoma cells. 30715803 2019
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE The different patterns of gene amplification and overexpression of CDK4, SAS and MDM2 in parosteal and intramedullary osteosarcomas may help explain the disparity in the biological behaviour of these two types of osteosarcoma. 9989829 1999
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE Molecular alterations of the RB1, TP53, and MDM2 genes in primary and xenografted human osteosarcomas. 9559293 1997
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE MDM2 and CDK4 are often amplified in low-grade osteosarcomas and their dedifferentiated counterparts, and the encoded proteins are accordingly overexpressed. 22301501 2012
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE Analysis of the p16INK4, p14ARF, p15, TP53, and MDM2 genes and their prognostic implications in osteosarcoma and Ewing sarcoma. 10942797 2000
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 AlteredExpression disease BEFREE MDM2 alteration and p21WAF1 expression were not observed in any of the cases of MFH-like OS. 12181274 2002
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE Consistent Amplification of FRS2 and MDM2 in Low-grade Osteosarcoma: A Genetic Study of 22 Cases With Clinicopathologic Analysis. 30001240 2018
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE Characterization of the 12q15 MDM2 and 12q13-14 CDK4 amplicons and clinical correlations in osteosarcoma. 20196171 2010
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 GeneticVariation disease BEFREE The study provides evidence supporting the association of MDM2 SNP309 with high-grade osteosarcoma risk in females and shows that TP53 Arg72Pro has a prognostic value for overall survival and EFS in osteosarcoma patients. 19451596 2009
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE We retrospectively reviewed 13 DLOS patients (six men, seven women; median age 32 years (interquartile range (IQR) 27 to 38)) diagnosed using the following criteria: the histological coexistence of low-grade and high-grade osteosarcoma components in the lesion, and positive immunohistochemistry of mouse double minute 2 homolog (MDM2) and cyclin-dependent kinase 4 (CDK4) associated with MDM2 amplification. 31154837 2019
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 AlteredExpression disease BEFREE GRIM-19 was proved to modulate radiation-induced osteosarcoma cells apoptosis in a p53 dependent manner by mediating MDM2 activity, which sheds light on the development of GRIM-19-based molecular target therapy on osteosarcoma. 30005830 2018
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 GeneticVariation disease BEFREE These results demonstrate that the inactivation of p53 in osteosarcomas directly by mutation versus indirectly by HDM2 amplification may have different cellular consequences with respect to the stability of the genome. 12972634 2003
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 AlteredExpression disease BEFREE Our results revealed an inactive form of p53 sporadically seen in the samples, a total loss of Rb protein expression, an increased expression of Cdk4, MDM2, c-fos, and c-myc proteins which literature currently reports being the principal alterations found in osteosarcoma. 11115584 2001