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 GeneticVariation disease BEFREE To determine if p19 genetic alterations play a role in hematopoietic malignancies, we examined DNA from 45 childhood newly diagnosed acute lymphocytic leukemias (ALLs), 30 acute myeloblastic leukemias (AMLs), 10 chronic myelocytic leukemias (CMLs), 45 adult T cell leukemias (ATLs), 70 non-Hodgkin's lymphomas (NHLs), and 20 multiple myelomas (MM) as well as 14 ALL, 20 AML, two ATL, and five lymphoma cell lines. 8946928 1996
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 GeneticVariation disease BEFREE One myeloma case had a p15 gene homozygous deletion (6%) with an intact p16 gene. 9012694 1997
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
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 Biomarker disease BEFREE The present data show that the p16 and p15 genes are silenced in MM by hypermethylation, which may play an important role in MM pathogenesis. 9792305 1998
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 PosttranslationalModification disease BEFREE Because of its high frequency, the presence of hypermethylation of p16 may prove to be a useful tumor marker for the majority of MM patients. 10492069 1999
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 AlteredExpression disease BEFREE All patients with follicular lymphoma (FL), myeloma or acute myeloid leukemia (AML) expressed p14ARF while nine of 23 patients with diffuse large B cell lymphoma (DLBCL) lost p14ARF expression. 10557050 1999
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 GeneticVariation disease BEFREE To determine whether the CDKN2A mutation predisposed the myeloma patient to her disease, we carried out loss of heterozygosity studies on sorted bone marrow from this individual and observed loss of the wild type CDKN2A allele in the malignant plasma cells. 10688850 2000
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 GeneticVariation disease BEFREE p16 gene methylation was detected in 6 of 55 patients (10.9%), who were 1 patient with M2a, 1 patient with M5a, 2 patients with chronic myelogenous leukemia (CML) in blast crisis, 1 patient with progressing multiple myeloma (MM), 1 with non-Hodgkin's lymphoma (NHL) accompanied by B-ALL, respectively. p16 gene methylation correlates with adverse prognostic features. 11189209 1998
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 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 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 GeneticVariation disease BEFREE Methylation is an inactivating mechanism of the p16 gene in multiple myeloma associated with high plasma cell proliferation and short survival. 12199782 2002
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 Biomarker disease BEFREE Since the incidence and clinical implications of abnormalities of TP53, CDKN2A (encoding for p16 and p14) and MDM2 genes (chromosome 12) in multiple myeloma (MM) is not clear, we investigated allelic loss at the former two loci and gain at the latter locus in a series of 82 MM patients. 12745272 2003
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.500 GeneticVariation disease BEFREE The methylation patterns of the genes p16(INK4a) (p16), tissue inhibitor of metalloproteinase 3 (TIMP3), p15(INK4b) (p15), E-cadherin (ECAD), death-associated protein kinase (DAPK), p73, RAS-association domain family 1A (RASSF1A), p14, O(6)-methylguanine DNA methyltransferase (MGMT), and retinoid acid receptor beta2 (RARbeta) were determined in patients with monoclonal gammopathy of undetermined significance (MGUS; n = 29), smoldering multiple myeloma (SMM; n = 5), multiple myeloma (MM; n = 113), or plasma cell leukemia (PCL; n = 7) by methylation-specific polymerase chain reaction analysis. 15197802 2004
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 Biomarker disease CTD_human These results indicate that methylation of p16 gene is essential important in the pathogenesis of MM and may provide a new diagnostic technique and drug target for the treatment of MM. 16008847 2005
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 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 PosttranslationalModification disease LHGDN 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 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