CDK4, cyclin dependent kinase 4, 1019

N. diseases: 433; N. variants: 8
Disease: Hereditary Melanoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation disease BEFREE We conclude that multigene panel testing for familial melanoma is appropriate considering the additional 4% diagnostic yield in non-CDKN2A/CDK4 families. 30414346 2019
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 Biomarker disease BEFREE CDKN2A/CDK4 Status in Greek Patients with Familial Melanoma and Association with Clinico-epidemiological Parameters. 29774366 2018
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation disease BEFREE We carried out a mutational analysis of CDKN2A, CDK4 exon 2, POT1 p.S270N, MITF exon 10, MC1R, and the TERT promoter in 106 high-risk patients with familial melanoma (FM) and sporadic multiple primary melanoma (spMPM) from Central Italy and evaluated mutations according to the clinicopathological characteristics of patients and lesions. 28146043 2017
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation disease BEFREE Forty-eight patients have met the criteria of the Italian Society of Human Genetics (SIGU) for the diagnosis of familial melanoma and were screened for CDKN2A and CDK4 mutations. 26650572 2016
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation disease BEFREE Three hundred and four consecutive single primary melanoma (SPM), nine familial melanoma (FM) and seven multiple primary melanoma cases (MPM) were assessed for sequence variants in exons 1α, 1β and 2 of CDKN2A and exon 2 of CDK4. 21801156 2011
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 Biomarker disease BEFREE To this end, we have developed a multiplex bead-based assay for high-throughput CDKN2A/CDK4 genotyping in the context of familial melanoma. 21085193 2011
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 Biomarker disease BEFREE Melanoma susceptibility genes CDKN2A and CDK4 play a role in the development of melanoma, especially among some familial melanoma kindreds. 18025917 2007
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation disease BEFREE A CDKN2A mutation in familial melanoma that abrogates binding of p16INK4a to CDK4 but not CDK6. 17909018 2007
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation disease BEFREE Germline mutations of the CDKN2A and CDK4 genes explain a significant proportion of familial melanoma. 17505264 2007
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation disease BEFREE The familial melanoma syndromes are associated with germline mutations in three highly penetrant gene products: p16, alternate reading frame, and cyclin-dependent kinase 4. 16462187 2006
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 Biomarker disease BEFREE In the past several years, two major susceptibility genes for melanoma, CDKN2A and CDK4, have been identified, but the two genes together account for a minority of familial melanoma. 12789279 2003
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation disease BEFREE Rarity of CDK4 germline mutations in familial melanoma. 11828258 2002
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation disease BEFREE This mutation (replacement of Arg24 by Cys) was first found in patients with hereditary melanoma and renders Cdk4 insensitive to INK4 inhibitors. 11726500 2001
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation disease BEFREE Analysis of the CDKN2A and CDK4 genes and HLA-DR and HLA-DQ alleles in two Spanish familial melanoma kindreds. 11243640 2001
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation disease BEFREE This mutated CDK4 acts as a dominant oncogene and has been found in both sporadic and familial melanoma. 9712735 1998
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation disease BEFREE In summary, our results show frequent involvement of the p16 gene in familial melanoma and confirm the role of the CDK4 gene as a melanoma-predisposing gene. 9425228 1998
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 Biomarker disease BEFREE CDKN2A (9p21) and CDK4 (12q13) have been identified as melanoma susceptibility genes in certain familial melanoma (FM) kindreds. 9258659 1997
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation disease BEFREE Moreover, a CDK4 gene mutation, responsible for a functional resistance of CDK4 kinase to p16 inhibitory activity, has been described to occur in some cases of familial melanoma. 9036865 1997
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 Biomarker disease BEFREE Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population. 8710906 1996
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation disease CLINVAR