CDKN2A, cyclin dependent kinase inhibitor 2A, 1029

N. diseases: 1314; N. variants: 146
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 Biomarker disease BEFREE Low dose dinaciclib enhances doxorubicin-induced senescence in myeloma RPMI8226 cells by transformation of the p21 and p16 pathways. 30405800 2018
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 GeneticVariation disease BEFREE The cyclin-dependent kinase inhibitor 1 (CDKN2B or p15(INK4B) ) gene lies adjacent to the tumor suppressor gene, cyclin-dependent kinase inhibitor 2 (CDKN2A), and is frequently mutated and deleted in a wide variety of tumors, including MM. 25382971 2014
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 Biomarker disease BEFREE Alterations of the cyclin D1/pRb/p16(INK4A) pathway in multiple myeloma. 12200702 2002
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 GeneticVariation disease GWASCAT Genome-wide association study identifies multiple susceptibility loci for multiple myeloma. 27363682 2016
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 Biomarker disease BEFREE Selective methylation was found in 19% for p16(INK4a), 36% for p15(INK4b), and 6.5% for both genes in MGUS, and frequencies were similar in MM suggesting that methylation of these genes is an early event, not associated with transition from MGUS to MM. p15(INK4b) and p16(INK4a) gene methylation might contribute to immortalization of plasma cells rather than malignant transformation in the natural history of MM. 11418489 2001
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 GeneticVariation disease BEFREE To examine the function of p18 as a putative tumor suppressor in myeloma cells, a zinc-inducible p18 construct was stably transfected into KMS12, a MM cell line with biallelic p18 and monoallelic p16 deletions as well as cyclin D1 overexpression. 11840272 2002
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 GeneticVariation disease BEFREE Our results indicate that ANRIL may be involved in melphalan-mediated apoptosis via down-regulating p14ARF and subsequent p53, and that the rs2151280 polymorphism may be a potential prognostic biomarker for relapse in melphalan-treated MM patients. 28150872 2017
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 GeneticVariation disease BEFREE Subjects carrying the KCNQ1rs2237892T allele or the CDKN2A-2Brs2383208G/G, IGF1rs35767T/T and MADDrs7944584T/T genotypes had a significantly increased risk of MM (odds ratio (OR)=1.32-2.13) whereas those carrying the KCNJ11rs5215C, KCNJ11rs5219T and THADArs7578597C alleles or the FTOrs8050136A/A and LTArs1041981C/C genotypes showed a significantly decreased risk of developing the disease (OR=0.76-0.85). 26099684 2015
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 PosttranslationalModification disease BEFREE These results suggest that inactivation of the p16 gene by methylation may be associated with decreased growth control and the development of PCL in a subset of patients with MM. 9815612 1997
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 GeneticVariation disease BEFREE We have tested whether CpG methylation of both CDKN2A and TP73 occurs in 45 individuals with multiple myeloma (24 male and 21 female, mean age 66.4 years) and in 4 patients (2 male and 2 female, mean age 61.7 years) with Waldenström's macroglobulinemia. 19423161 2009
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 PosttranslationalModification disease BEFREE As regards p16 methylation, we confirmed a high prevalence of p16 methylation (40%) in patients affected by MM and demonstrated that MTHFR 677CC is associated with a higher prevalence of p16 hypermethylation. 16541270 2006
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 GeneticVariation disease BEFREE We also found no association between p16 methylation and the main cytogenetic categories, although it was more common among patients with 17p13.1 deletions (p53 locus), a genetic progression event in MM. 16840723 2007
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 PosttranslationalModification disease BEFREE Therefore, p16 methylation seems to have no correlation with angiogenesis and VEGF expression, neither with overall and event-free survival in MM patients. 15863274 2005
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 PosttranslationalModification disease BEFREE Of the putative tumour suppressor genes in the DAP kinase/p14/HDM2/p53/Apaf-1 apoptosis pathway, only DAP kinase is frequently methylated in MM, which is associated with gene silencing and might be of prognostic significance. p14 and Apaf-1 were not methylated in MM. 17557868 2007
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 PosttranslationalModification disease BEFREE This data favours the importance of p16 methylation on cell cycle regulation in multiple myeloma. 16166769 2005
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 Biomarker disease LHGDN These findings showed methylation of the p16 gene was a frequent event inMM patients at diagnosis, and was associated with an increased proliferative rate of plasma cells and a poor prognosis, indicating an important role for p16 gene in the cell cycle regulation of multiple myeloma tumour cells, and thus in the clinical outcome of the disease. 12199782 2002
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 Biomarker disease BEFREE Our findings suggest methylation of TP73, ARF, p15 INK4B , and p16 INK4A as early events in the pathogenesis and development of plasma cell disorders; meanwhile, SOCS-1 methylation would be an important step in the clonal evolution from MGUS to MM. 19727727 2010
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 GeneticVariation disease BEFREE This is the second case report of germline mutation of CDKN2A being associated with myeloma.CDKN2A is a stabiliser of p53. 29110637 2017
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 PosttranslationalModification disease BEFREE It is possible that hypermethylation of the p16INK4A gene promoter contributes to progression to aggressive MM from indolent PCD, especially to extra-PC development. 11243384 2001
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 GeneticVariation disease BEFREE We have analyzed the methylation pattern of exon E1alpha of the p16 gene in 101 untreated MM and five primary plasma cell leukemias (PCL). 10637494 2000
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 AlteredExpression disease BEFREE The association of increased p14ARF/p16INK4a and p15INK4a gene expression with proliferative activity and the clinical course of multiple myeloma. 17043023 2006
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 Biomarker disease BEFREE We investigated the methylation status of p16 and its association with common cytogenetic changes, clinicolaboratory findings, and survival in MM. 20721556 2011
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 PosttranslationalModification disease BEFREE In 32 cases of multiple myeloma and 19 cases of MGUS, significantly more frequent methylation of p16 (p = 0.001), SHP1 (p< or =0.001) and E-cadherin (p< or =0.001) genes was found in multiple myeloma than in MGUS. 17213358 2007
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 PosttranslationalModification disease BEFREE The current meta-analysis confirms and reinforces existing findings that p15 (INK4b) and p16 (INK4a) promoter methylation may be closely implicated in the pathogenesis of MM. 24908414 2014
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 Biomarker disease BEFREE However, hypermethylation was observed in 75% for p16 and 67% for p15 in our group of MM patients. 9116295 1997