CDKN2B, cyclin dependent kinase inhibitor 2B, 1030

N. diseases: 440; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE The methylation levels of the promoter region of ESR1 and p15 genes in monocytes of leukemia patient were significantly elevated (p < 0.05). 29364483 2018
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Single-cell multicolour FISH was used to demonstrate that the earliest detectable leukaemia subclone contained the STIL-TAL1 fusion and copy number loss of 9p21.3 (CDKN2A/CDKN2B locus), with other copy number alterations including loss of PTEN occurring as secondary subclonal events. 29556024 2018
CUI: C0023418
Disease: leukemia
leukemia
0.100 PosttranslationalModification disease BEFREE Long noncoding RNA HOTAIR promotes the self-renewal of leukemia stem cells through epigenetic silencing of p15. 30172749 2018
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE CDKN2B-related piRNAs, hsa_piR_014637 and hsa_piR_011186 were transduced into the leukemia cell line U937 to study the effect of these two piRNAs on cell-cycle progression, apoptosis, heterochromatin formation, CDKN2B methylation and expression. 26205624 2015
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE p15(INK4B) and p21(WAF1) are TGF-β targets that are silenced in leukemia by epigenetic mechanisms involving DNA methylation and/or histone modifications. 21124069 2011
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Importantly, this study (a) establishes that the gene encoding the tumor suppressor p15(INK4b) is a target of CBFbeta-SMMHC, a finding relevant to the leukemogenesis process, and (b) indicates that, in patients with inv(16)-containing AML, reexpression from the INK4b locus in the leukemia would not be predicted to occur using hypomethylating drugs. 17283131 2007
CUI: C0023418
Disease: leukemia
leukemia
0.100 AlteredExpression disease LHGDN Cyclin-dependent kinase inhibitor p15 is frequently inactivated by either methylation or deletion in patients with acute leukemia. 15755508 2005
CUI: C0023418
Disease: leukemia
leukemia
0.100 AlteredExpression disease LHGDN Methylation status of cyclin-dependent kinase inhibitor genes within the transforming growth factor beta pathway in human T-cell lymphoblastic lymphoma/leukemia. 15475071 2004
CUI: C0023418
Disease: leukemia
leukemia
0.100 PosttranslationalModification disease BEFREE Methylation of the p15INK4b promoter never seems to occur in solid tumors but is a major gene silencing mechanism in hematological malignancies. p14ARF and p16INK4a promoter methylation often occurs in solid tumors but also in leukemias and lymphomas. 15370242 2004
CUI: C0023418
Disease: leukemia
leukemia
0.100 PosttranslationalModification disease BEFREE This profile is distinct from other types of myeloid leukaemias. p15 methylation has a poor prognostic impact on DFS. 12899712 2003
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Therefore, methylation inactivation of the INK4/CDK/RB pathway in leukemia involved primarily p15 and occasionally p16, but not p18 or RB. 14513284 2003
CUI: C0023418
Disease: leukemia
leukemia
0.100 PosttranslationalModification disease BEFREE Hypermethylation of the p15(INK4B) gene occurs frequently in leukemia and high-risk MDS. 12150726 2002
CUI: C0023418
Disease: leukemia
leukemia
0.100 PosttranslationalModification disease BEFREE Moreover, two different patterns of promoter methylation distinguished the leukemias from colorectal cancer: p15 promoter hypermethylation was found only in the leukemias, and p16 promoter hypermethylation occurred only in colon tumors. 11584062 2001
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE These results revealed the frequent methylation of p16 and p15 genes in B-ALL and AML despite a low frequency of p16 and p15 deletions and mutations in these leukemias. 10634644 2000
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Adult T-cell leukemia (ATL) is a retrovirus-associated leukemia with poor prognosis and often has deletions of the p16INK4a and p15INK4b genes on chromosome 9p21. 9426690 1998
CUI: C0023418
Disease: leukemia
leukemia
0.100 PosttranslationalModification disease BEFREE Recent reports suggest frequent methylation of the p15(INK4b) gene promoter in leukemias, and it has been proposed that this methylation could be necessary for leukemic cells to escape TGF beta regulation. 9531610 1998
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Interestingly, the p15INK4B gene was frequently methylated in patients with high-risk MDS (refractory anemia with excess blasts [RAEB], RAEB in transformation [RAEB-t], and overt leukemia evolved from MDS; 14/18 [78%]) compared with patients with low-risk MDS (refractory anemia [RA] and refractory anemia with ring sideroblast [RARS]; 1/12 [8%]). 9269757 1997
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Therefore, ETV6 and p16(INK4A)/p15(INK4B) do not play a significant role in the pathogenesis of infant ALL, further emphasizing the distinctive biology of this subset of leukemias. 9204978 1997
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Therefore, considerable efforts have been made to determine the role of CDK4/6-inhibitors in hematologic malignancies: This article will review alterations of components of the cell-cycle machinery in brief and summarize the role of the CDK4/6-inhibitors p16INK4A, p15INK4B, p18INK4C and p19INK4D in leukemias and lymphomas. 9031081 1996
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Recently, two putative tumor suppressor gene(s) CDKN2 and MTS2 have been mapped to the 9p21 region, and shown to be deleted in a large number of tumors including leukemias, melanomas, bladder cancers and brain tumors. 8689637 1996
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE p16INK4A and p15INK4B gene deletions in primary leukemias. 7795238 1995
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE We found that none of acute myeloblastic leukaemias (four cases) showed the CDK4I alteration, whereas 6/13 (46%) common acute lymphoblastic leukaemias (ALLs) displayed homozygous deletions. 8555068 1995
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE The p15 and p16 genes were either deleted or mutated in myeloid leukaemia lines at a high frequency [6/15 (40%) for p15; 8/15 (53%) for p16] but alterations in primary myeloid leukaemias are much less frequent [2/46 (4%) for p15; 3/46 (6%) for p16]. 7577621 1995
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Involvement of CDKN2 (p16INK4A/MTS1) and p15INK4B/MTS2 in human leukemias and lymphomas. 7882348 1995
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Recently, it has been shown that the homozygous deletion of the cyclin-dependent kinase-4 inhibitor (CDK4I;p16) gene, which is mapped to chromosome 9p21, is frequently observed in a wide spectrum of human cancers, including leukemias. 7919362 1994