CDK4, cyclin dependent kinase 4, 1019

N. diseases: 433; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023827
Disease: liposarcoma
liposarcoma
0.600 GeneticVariation disease BEFREE Efficacy of a CDK4/6 Inhibitor in a Patient with Breast Cancer and Liposarcoma: A Case Report and Review of the Literature. 31798393 2019
CUI: C0023827
Disease: liposarcoma
liposarcoma
0.600 GeneticVariation disease BEFREE However, these profiles did not segregate by histology (lung adenocarcinoma-appendiceal cancer (KRAS G12D and GNAS R201C), and lung adenocarcinoma-liposarcoma (CDK4 and MDM2 amplification pairs)). 26418953 2015
CUI: C0023827
Disease: liposarcoma
liposarcoma
0.600 Biomarker disease BEFREE In conclusion, MLPA proves to be an appropriate and straightforward technique for screening MDM2/CDK4 amplification in lipomatous tumors, especially when a correct cut-off value and reference samples are chosen, and could be considered a good alternative to FISH to determine MDM2 and CDK4 amplification in liposarcomas. 25679065 2015
CUI: C0023827
Disease: liposarcoma
liposarcoma
0.600 AlteredExpression disease BEFREE CDK4/6 inhibitors have antiproliferative activity in CDK4-amplified liposarcoma and neuroblastoma, suggesting CDK4/6 inhibition as a potential therapeutic strategy in fusion-positive RMS. 25810375 2015
CUI: C0023827
Disease: liposarcoma
liposarcoma
0.600 Biomarker disease BEFREE Q-PCR analysis of the liposarcomas revealed the presence of CDK4 amplification in 44 cases (91.7%) and MDM2 amplification in 46 cases (95.8%). 25121597 2014
CUI: C0023827
Disease: liposarcoma
liposarcoma
0.600 Therapeutic disease CTD_human Phase II trial of the CDK4 inhibitor PD0332991 in patients with advanced CDK4-amplified well-differentiated or dedifferentiated liposarcoma. 23569312 2013
CUI: C0023827
Disease: liposarcoma
liposarcoma
0.600 Biomarker disease CTD_human Phase II trial of the CDK4 inhibitor PD0332991 in patients with advanced CDK4-amplified well-differentiated or dedifferentiated liposarcoma. 23569312 2013
CUI: C0023827
Disease: liposarcoma
liposarcoma
0.600 Biomarker disease BEFREE These findings indicate that analysis of FRS2 in combination with CDK4 and MDM2 will more accurately characterize pathologic features of high-grade liposarcomas. 23393200 2013
CUI: C0023827
Disease: liposarcoma
liposarcoma
0.600 Biomarker disease BEFREE We demonstrate that an alteration in the CDKN2A/CDKN2B/CDK4/CCND1 pathway is present in almost all cases without CDK4 amplification, thereby confirming the pivotal role of this pathway in liposarcoma oncogenesis. 21910158 2011
CUI: C0023827
Disease: liposarcoma
liposarcoma
0.600 Biomarker disease BEFREE All of the liposarcomas had 12q13-q15 amplifications with varying peaks at CDK4 (12q14.1), HMGA2 (12q14.3), and MDM2 (12q15); 24% of the DDLS and no WDLS had 1p32.2 (JUN) amplifications; 33% WDLS and 35% DDLS had 1q24.3 amplifications involving DNM3 and miR-214/miR-199a2; 24% of the liposarcomas had 6q23-q24 amplifications (including MAP3K5). 21117066 2011
CUI: C0023827
Disease: liposarcoma
liposarcoma
0.600 Therapeutic disease CTD_human Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy. 20601955 2010
CUI: C0023827
Disease: liposarcoma
liposarcoma
0.600 Biomarker disease CTD_human Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy. 20601955 2010
CUI: C0023827
Disease: liposarcoma
liposarcoma
0.600 GeneticVariation disease BEFREE The well-differentiated and dedifferentiated family of liposarcomas demonstrates amplification of the chromosome subregion 12q13-q15 with resultant amplification of the MDM2 and CDK4 genes. 19734852 2009
CUI: C0023827
Disease: liposarcoma
liposarcoma
0.600 Biomarker disease BEFREE Selective elimination of amplified CDK4 sequences correlates with spontaneous adipocytic differentiation in liposarcoma. 19626636 2009
CUI: C0023827
Disease: liposarcoma
liposarcoma
0.600 AlteredExpression disease BEFREE Chromosome-12 copy number alterations and MDM2, CDK4 and TP53 expression in soft tissue liposarcoma. 17214366 2007
CUI: C0023827
Disease: liposarcoma
liposarcoma
0.600 Biomarker disease BEFREE An analysis of MDM2 and CDK4 amplification using real-time PCR, as well as FISH, is useful for the differential diagnosis of liposarcomas and their histologic mimickers. 16938516 2006
CUI: C0023827
Disease: liposarcoma
liposarcoma
0.600 Biomarker disease BEFREE Real-time PCR proved to be a fast and reliable method to characterize lipomas and liposarcomas by quantification of MDM2 and CDK4 gene amplification. 14694526 2004
CUI: C0023827
Disease: liposarcoma
liposarcoma
0.600 Biomarker disease BEFREE As well as confirming the synergistic effect of MDM2 and CDK4, these results are consistent with the concept that amplicon(s) excluding MDM2 may contribute to transformation and support a role of CDK4 in opposing p53 function, particularly in NR WD liposarcoma. 9713346 1998
CUI: C0023827
Disease: liposarcoma
liposarcoma
0.600 GeneticVariation disease BEFREE Both cellular flanking probes are outside the amplicon of this chromosome region identified in the OSA and RMS13 sarcoma cell lines, comprising SAS-CHOP-CDK4-MDM2 genes and where translocation breakpoints are located in liposarcomas. 7592643 1995
CUI: C0023827
Disease: liposarcoma
liposarcoma
0.600 CausalMutation disease CGI
CUI: C0023827
Disease: liposarcoma
liposarcoma
0.600 GenomicAlterations disease CGI