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 GeneticVariation disease BEFREE Southern blotting and polymerase chain reaction/single strand conformation polymorphism (PCR-SSCP) analyses were performed to search for MDM2, ras family and p53 gene alterations in 17 patients with high-grade osteosarcomas. 9793960 1998
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE Therefore, when compared with low-grade central and parosteal osteosarcomas, MDM2 and CDK4 markers cannot be used diagnostically to differentiate this subtype of osteosarcoma. 25680902 2015
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE These findings from the study demonstrated that Ras-ERK1/2 signaling could promote the development of OS via regulating H2BK12ac through MDM2-mediated CBP degradation. 31695502 2019
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE MDM2 amplification was observed in 1 of 8 osteosarcomas; 3 showed CHR12 aneusomy. 20881839 2011
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE On the other hand, late events such as the loss of RB1 and gain of MDM2, crucial regulators of cell cycle, appear to be related to the final mechanisms contributing to the metastatic establishment of osteosarcoma. 23845465 2013
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE A two- to threefold increase in the copy number of MDM2 was detected in 7 of 37 samples, 5 of which were osteosarcomas. 8781571 1996
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE Strong and uniform CDK4 and MDM2 immunoreactivity was found respectively in three of three and two of three dedifferentiated parosteal osteosarcomas. 10943202 2000
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE Amplification of the CDK4 gene without MDM2 amplification was observed in osteosarcomas and a chondrosarcoma but not in soft tissue tumors, whereas amplification of MDM2 gene alone was observed in malignant fibrous histiocytomas (MFHs), liposarcomas, and lipomas, but not in bone tumors. 9703873 1998
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease HPO
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE This fact has been described recently and its relation with the amplification of the MDM2 gene observed in osteosarcomas is as yet unknown. 8780749 1996
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE G-banding, comparative genomic hybridization (CGH), and real-time PCR for the MDM2 and CDK4 genes were performed to describe the genetic profile of this tumor and revealed aberrations that are common findings of parosteal osteosarcomas. 22749040 2012
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 GeneticVariation disease BEFREE Whereas MDM2 amplification and/or over-expression were found only in two (U2OS and OSA cell lines) of 18 osteosarcomas, one of 20 malignant fibrous histiocytomas (MFHs), and in none of 14 leiomyosarcomas, such alterations were observed in two of two fibrosarcomas, three of six malignant schwannomas, three of 19 liposarcomas, and in the one hemangiopericytoma examined. 8064888 1994
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 AlteredExpression disease BEFREE Our results show that some diagnosed high-grade osteosarcomas are differentiated/dedifferentiated osteosarcomas and harbor an overexpression and amplification of MDM2. 26997440 2016
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE Using the SJSA-1 osteosarcoma cell line which harbors an amplified MDM2 gene and wild-type p53, we have investigated the acquired resistance mechanisms both in vitro and in vivo to SAR405838. 26070072 2015
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE In conclusion, these results testified that Ras-ERK1/2 signalling promoted the development of OS by mediating H4K12ac through MDM2-mediated HAT1 degradation. 30942624 2019
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE Amplification of the MDM2 gene has recently been observed in soft tissue sarcoma and in osteosarcoma. 7519048 1994
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE Alterations of the p53/MDM2 pathway are frequent in OS and usually represent mutually exclusive tumorigenic events. p53 does not appear to be a major determinant of proliferative rate in OS. 9118036 1997
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 AlteredExpression disease BEFREE MDM2 alterations and p21WAF1 expression might be involved in the tumorigenesis of low-grade central osteosarcomas. 15310147 2004
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 AlteredExpression disease BEFREE To determine the frequency of alterations in these genes and their correlation with clinicopathologic features, we analyzed the MDM2 and CDK4 protein levels by immunohistochemistry and assessed MDM2, CDK4 and SAS amplification by real-time PCR in nine osteosarcomas of the jaws. 11564577 2001
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 GeneticVariation disease BEFREE Results from this study suggest that MDM2 genetic variants are potentially related to OS susceptibility in Chinese Han population, and might be used as molecular markers for assessing OS susceptibility. 23933591 2013
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 AlteredExpression disease BEFREE The hdm-2 oncogene is overexpressed in several types of malignancies including osteosarcomas, soft tissue sarcomas and gliomas and hdm-2 has been associated with accelerated tumor formation in both hereditary and sporadic cancers. 16732328 2006
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE Circular RNA circ_0102049 promotes cell progression as ceRNA to target MDM2 via sponging miR-1304-5p in osteosarcoma. 31727503 2019
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 AlteredExpression disease BEFREE These mice did not develop malignancies; however, these animals and the MG63 human osteosarcoma cell line with high levels of Mdm2 showed an increase in bone mineralization. 30011084 2018
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE Analysis of SAS gene and CDK4 and MDM2 proteins in low-grade osteosarcoma. 10101594 1999
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.200 Biomarker disease BEFREE Our data suggest that MDM2 gene amplification may be associated with tumor progression and metastasis in osteosarcoma. 8416741 1993