Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 GeneticVariation BEFREE Specific single nucleotides polymorphisms (SNPs) rs4977756 (CDKN2A/B), rs6010620 (RTEL1), rs498872 (PHLDB1), rs2736100 (TERT), and rs4295627 (CCDC26) have been associated with glioma susceptibility and are potential risk biomarkers. 31721021

2020

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 GeneticVariation BEFREE The Investigating and defining if glial tumors with CDKN2A/B and MTAP homozygous loss may be vulnerable to new forms of therapy, namely those affecting the methionine salvage pathway, was proven to be of importance. 30558563

2018

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 GeneticVariation BEFREE Taken together with the facts that only one PXA preceded E-GBM among these lower-grade lesions, and that co-occurrence of BRAF V600E, TERT promoter mutations and CDKN2A/B homozygous deletions have been reported to be rare in conventional lower-grade diffuse gliomas, the diffuse glioma-like components may be distinct infiltrative components of E-GBM, reflecting intratumoral heterogeneity. 29105198

2018

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 Biomarker BEFREE Although not sufficient on its own, IDH1<sup>R132H</sup> cooperated with PDGFA and loss of Cdkn2a, Atrx, and Pten to promote glioma development in vivo. 29719265

2018

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 AlteredExpression BEFREE The median methylation level of MGMT in glioma samples was 64.65% (IQR, 54.87%-74.37%) compared to 38.30% (IQR, 34.13%-45.45%) in healthy controls, and all revealed significant differences including P16. 29100349

2017

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 GeneticVariation BEFREE The pooled results showed that there was an obvious association of CDKN2A/B rs4977756 polymorphism with risk of glioma in all four comparison models (dominant model/AG + GG vs. AA: OR = 1.36, 95 %CI = 1.20-1.54, p < 0.01; heterozygote comparison/AG vs. AA: OR = 1.31, 95 %CI = 1.12-1.53, p < 0.01; homozygote comparison/GG versus AA: OR = 1.49, 95 %CI = 1.36-1.64, p < 0.01; additive model/G vs. A: OR = 1.23, 95 %CI = 1.18-1.28, p < 0.01, respectively). 26577493

2016

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 Biomarker BEFREE These findings suggest that CDKN2A testing may provide further clinical aid in lower-grade glioma substratification beyond IDH mutation and 1p19q codeletion status, particularly in IDH/TP53 mutated astrocytomas. 25853694

2015

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 GeneticVariation BEFREE These findings show that CDKN2 p16 540 C>G, CDKN2 p16 580 C>T and MDM2 SNP309 T>G variants and their haplotypes may be risk factors for the development of primary brain tumors, especially of glioma. 26124340

2015

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 GeneticVariation BEFREE In this study, we analyzed the deletion status of all three exons of p16 and frequency of exon 2 somatic point mutations in glioma from the Indian population and its clinical implications. 24065197

2014

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 GeneticVariation BEFREE Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci influencing glioma risk: rs2736100 (TERT), rs11979158 and rs2252586 (EGFR), rs4295627 (CCDC26), rs4977756 (CDKN2A/CDKN2B), rs498872 (PHLDB1), and rs6010620 (RTEL1). 23161787

2013

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 GeneticVariation BEFREE The genetic variants associated with the risk of glioma in the EGFR gene have also been associated with specific somatic aberrations, including loss at the CDKN2A/B locus and allele specific loss of EGFR in the tumors. 24184969

2013

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 GeneticVariation BEFREE In analyses including glioma cases with a family history of brain tumours (n = 104) and control subjects free of glioma at baseline, three of seven SNPs were associated with glioma risk: rs2736100 (5p15.33, TERT), rs4977756 (9p21.3, CDKN2A-CDKN2B) and rs6010620 (20q13.33, RTEL1). 23115063

2013

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 AlteredExpression BEFREE Despite the dependency of primary gliomas on continued KRas signaling, a significant percentage of tumors progressed to a KRas-independent state in the absence of Ink4a/Arf expression, demonstrating that these tumor suppressors play a critical role in the suppression of glioma recurrence. 22015595

2012

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 Biomarker BEFREE Our previous study has shown that inhibitor of differentiation 4 (ID4) dedifferentiates Ink4a/Arf(-/-) mouse astrocytes and human glioma cells to glioma stem-like cells (induced GSCs or iGSCs). 21531766

2011

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 Biomarker BEFREE Glioma progression is associated with elevated growth factor signaling and loss of function of tumor suppressors Ink4a, Arf and Pten. 21754979

2011

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 GeneticVariation BEFREE Three of the gene variants (rs4295627, a variant of CCDC26; rs4977756, a variant of CDKN2A and CDKN2B; and rs6010620, a variant of RTEL1) were statistically significantly associated with glioma risk in the present population. 21920947

2011

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 GeneticVariation BEFREE The average percentage of methylation in the promoter region of p14ARF gene in brain samples from glioma patients is 39.4%, while 0 from autopsy donors. 20714943

2011

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 GeneticVariation BEFREE Genome-wide association study identifies that CDKN2A was a susceptibility loci for glioma. 21843312

2011

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 GeneticVariation BEFREE Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs2736100, TERT), 8q24.21 (rs4295627, CCDC26), 9p21.3 (rs4977756, CDKN2A-CDKN2B), 20q13.33 (rs6010620, RTEL1), and 11q23.3 (rs498872, PHLDB1), and two loci at 7p11.2 (rs11979158 and rs2252586, EGFR). 21825990

2011

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 Biomarker BEFREE Activated MEK cooperates with Ink4a/Arf loss or Akt activation to induce gliomas in vivo. 21057530

2011

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 Biomarker BEFREE Two recent genome-wide association studies reported that single nucleotide polymorphisms (SNPs) in (or near) TERT (5p15), CCDC26 (8q24), CDKN2A/B (9p21), PHLDB1 (11q23), and RTEL1 (20q13) are associated with infiltrating glioma. 21356187

2011

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 AlteredExpression BEFREE Reactivation of p53 by either gene transfer or pharmacologic approaches may compensate for loss of p19Arf or excess mdm2 expression, common events in melanoma and glioma. 20569441

2010

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 GeneticVariation BEFREE Our findings provide no evidence that p16(INK4A)/p14(ARF) and p53 mutations contribute significantly to familial glioma. 20455025

2010

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 GeneticVariation BEFREE Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8q24.21 (rs4295627, CCDC26), 9p21.3 (rs4977756, CDKN2A-CDKN2B), 11q23.3 (rs498872, PHLDB1), and 20q13.33 (rs6010620, RTEL1) as determinants of glioma risk. 20462933

2010

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0017638
Disease: Glioma
Glioma
0.600 GeneticVariation BEFREE Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in five loci at 5p15.33 (rs2736100, TERT), 8q24.21 (rs4295627, CCDC26), 9p21.3 (rs4977756, CDKN2A/CDKN2B), 20q13.33 (rs6010620, RTEL1), and 11q23.3 (rs498872, PHLDB1) to be associated with glioma risk. 20847058

2010