CDK4, cyclin dependent kinase 4, 1019

N. diseases: 433; N. variants: 8
Disease: melanoma ×
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 GENOMICS_ENGLAND
CUI: C0025202
Disease: melanoma
melanoma 		0.700 Biomarker disease HPO
CUI: C0025202
Disease: melanoma
melanoma 		0.700 CausalMutation disease CGI
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE Polymerase chain reaction and Southern blot analysis confirmed the frequent deletion or rearrangement of the CDK4-inhibitor gene in melanomas, gliomas, lung cancers and leukaemias, and the absence of detectable gene transcripts. 8152487 1994
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE Recently, the inhibitor of cyclin-dependent kinase 4 (CDK4I; also known as p16INK4, multiple tumor suppressor 1, or CDKN2 gene) has been mapped to 9p21 and shown to be mutated or deleted in a large fraction of cell lines derived from many tumor types, including melanoma, suggesting that this gene could be a melanoma suppressor gene. 7923152 1994
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE A p16INK4a-insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma. 7652577 1995
CUI: C0025202
Disease: melanoma
melanoma 		0.700 AlteredExpression disease BEFREE Normal melanocytes and all melanoma lines expressed Cdk4, Cdk6, and cyclins D1 and D3. 8968104 1996
CUI: C0025202
Disease: melanoma
melanoma 		0.700 AlteredExpression disease BEFREE Although a low frequency of CDKN2 DNA aberrations was observed, the high number of tumours that lacked CDKN2 expression but showed overexpression of CDK4 and/or CCND1, suggest that functional inactivation of pRb through this pathway may be involved in the development or progression of sporadic human melanomas. 8611425 1996
CUI: C0025202
Disease: melanoma
melanoma 		0.700 Biomarker disease BEFREE We screened for germ-line mutations in p16 and in two other candidate melanoma genes, p19ARF and CDK4, in 33 consecutive patients treated for melanoma; these patients had at least one affected first or second degree relative (28 independent families). 8710906 1996
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 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 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 Altogether, our data demonstrate that point mutation of CDK4 is a rare event in melanoma pathogenesis. 9311594 1997
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE In binding assays the protein expressed from the previously described mutation, Met53Ile, did not bind to CDK4/CDK6, confirming its role as a causal mutation in the development of melanoma. 9328469 1997
CUI: C0025202
Disease: melanoma
melanoma 		0.700 Biomarker disease BEFREE These data indicate that 55 of 60 (92%) melanoma cell lines demonstrated some aberration of CDKN2A or CDK4, thus suggesting that this pathway is a primary genetic target in melanoma development. 9354451 1997
CUI: C0025202
Disease: melanoma
melanoma 		0.700 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: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE The gene for cyclin-dependent kinase 4, CDK4, has been found in mutated form in the germline from individuals belonging to 2 melanoma kindreds in the United States. 9724087 1998
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE Surprisingly, at the DNA level alone, 96% (43/45) of melanoma cell lines examined were found to be deleted/mutated/methylated for CDKN2A (34/45), homozygously deleted for CDKN2A's neighbor and homolog CDKN2B (6/45), and/or mutated/amplified for CDK4 (5/45). 9598804 1998
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE Since p16-binding deficient CDK4 has oncogenic potential, these mutations may be present in melanomas or other human neoplasms. 9712735 1998
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE Rare families carry a mutated CDK4 gene that is also responsible for inherited melanoma. 9469357 1998
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE Germline mutations in the cyclin-dependent kinase gene CDK4 (chromosome 12q14) have been described in three melanoma families. 10630172 1999
CUI: C0025202
Disease: melanoma
melanoma 		0.700 Biomarker disease BEFREE In addition to the INK4a locus, other genes involved in melanoma development are discussed here, in particular those genes that participate in the same functional pathway, such as CDK4 and Rb, and p53, which is regulated by the alternative product of INK4a. 10596908 1999
CUI: C0025202
Disease: melanoma
melanoma 		0.700 Biomarker disease BEFREE These results indicate that melanoma susceptibility genes other than CDKN2A and CDK4 do not impair net capacity to repair UV-induced DNA damage. 10380935 1999
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE CDKN2A (P16(INK4a)) and CDK4 mutation analysis in 131 Australian melanoma probands: effect of family history and multiple primary melanomas. 10398427 1999
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