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: C0025202
Disease: melanoma
melanoma
0.700 Biomarker disease BEFREE To investigate the underlying mechanisms, levels of c-Myc, β-catenin, phosphorylated retinoblastoma (p-Rb), cyclin-dependent kinase 4 (CDK4), and Cyclin D3 proteins were determined by western blotting in melanoma A375 cells with WSB2 knocked down. 31103822 2019
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker disease BEFREE In summary, although CDK4 is a melanoma susceptibility gene, it plays a minor role in hereditary melanoma. 11828258 2002
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker disease BEFREE Two years later, another high-penetrance gene, CDK4, was found to be responsible for melanoma development in some families. 25431349 2015
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease BEFREE Here, we generated T cells expressing a mutation-specific transgenic T cell receptor (TCR) to target different immunogenic mutations in cyclin-dependent kinase 4 (CDK4) that naturally occur in human melanoma. 26808500 2016
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker disease BEFREE In sum, deregulation of all three PPs appears central to neoplastic progression for melanoma, and the customary reference to the p16<sup>INKA</sup>/CDK4/pRB pathway may no longer be accurate; all PPs are potentially critical targets of CDK-cyclins in melanoma. 28192409 2017
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease BEFREE These data strongly support the idea that deregulation of the CDK4/cyclin D pathway, via CDKN2 or CDK4 mutations, is of biological significance in the development of melanoma. 9036865 1997
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker disease BEFREE We observed that melanoma PDXs resistant to CDK4/6i frequently displayed activation of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway, and inhibition of this pathway improved CDK4/6i response in a p21-dependent manner. 31413145 2019
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease BEFREE Mutations in CDK4 that impair the inhibitory interaction with p16INK4a also increase melanoma risk but these mutations are extremely rare. 24258989 2014
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker disease BEFREE We have examined alterations in the cyclin-dependent kinase inhibitor 2A (CDKN2A) and cyclin-dependent kinase 4 (CDK4), major melanoma predisposing genes, in a Spanish melanoma-prone population comprising 61 patients from 45 families. 20653773 2010
CUI: C0025202
Disease: melanoma
melanoma
0.700 AlteredExpression disease BEFREE Loss of nuclear receptor RXRα in epidermal keratinocytes promotes the formation of Cdk4-activated invasive melanomas. 20629968 2010
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease BEFREE In the case of CDK4, only one specific mutation, resulting in the substitution of a cysteine for an arginine at codon 24 (R24C), has been found to be associated with melanoma. 9416844 1997
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease BEFREE Less frequently, germline mutations in the CDK4 gene have also been linked with an increased risk of melanoma. 10777219 2000
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease BEFREE Nearly 100% of melanomas have a defect in the p16(INK4A):cyclin D-CDK4/6:RB pathway, leading to abnormal cell cycle control and unregulated cellular proliferation. 26810603 2016
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker disease BEFREE Melanomas also commonly show impairment of the p16(INK4A)-CDK4-Rb and ARF-HDM2-p53 tumor suppressor pathways. 15951821 2005
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker disease BEFREE Inhibition of Wee1, AKT, and CDK4 underlies the efficacy of the HSP90 inhibitor XL888 in an in vivo model of NRAS-mutant melanoma. 23538902 2013
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker disease BEFREE Regulation of PRMT5-MDM4 axis is critical in the response to CDK4/6 inhibitors in melanoma. 31439820 2019
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease BEFREE No mobility shifts indicating sequence alterations were observed in 273 tumors and 49 cell lines from diverse kinds of tumors These results suggest that in contrast to melanoma, in many other types of human neoplasms the mutation of the CDK4 gene is very rare. 12731669 2003
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker disease BEFREE CDKN2A (9p21) and CDK4 (12q13) have been identified as melanoma susceptibility genes in certain familial melanoma (FM) kindreds. 9258659 1997
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease BEFREE The cellular activities of four melanoma-associated p16(INK4a) mutations (Arg24Pro, Ala36Pro, Met53Ile, and Val126Asp) were compared by use of inducible expression in stably transfected melanoma cells, deficient in expression of the endogenous protein, and compared with their ability to bind CDK4. 11595726 2001
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker disease BEFREE These results suggest that coamplification of CDK4 and MDM2 may substitute for loss of P16INK4A and P14ARF function in a subset of melanomas. 16419059 2006
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker disease LHGDN We suggest that co-overexpression of KIT/CDK4 is a potential mechanism of oncogenic transformation in some BRAF/NRAS wild-type melanomas. 18632627 2008
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease BEFREE A proportion of melanoma-prone individuals in both familial and non-familial contexts has been shown to carry inactivating mutations in either CDKN2A or, rarely, CDK4. 12497626 2003
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease BEFREE Therefore, to localize additional loci involved in melanoma susceptibility, we have performed a genomewide scan for linkage in 49 Australian pedigrees containing at least three CMM cases, in which CDKN2A and CDK4 involvement has been excluded. 12844286 2003