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: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease UNIPROT
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 PosttranslationalModification disease BEFREE Our data show a significant correlation (P = 0.00001, two-sided) between the absence of p16/CDKN2 expression and methylation of its 5' CpG island in bladder tumors, cell lines, and normal colon mucosa. 7553622 1995
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease BEFREE Homozygous deletion (both alleles lost) of the p16 and the p15 genes was observed in 11 and nine bladder tumors, respectively. 7563186 1995
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Biomarker disease BEFREE No sequence mutations were detected in exons 1 or 2 of either p15 or p16 in any of the bladder tumors. 7576106 1995
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease BEFREE The p15 and p16 genes are known to be juxtaposed on chromosome 9p21 at the locus of a putative tumour-suppressor gene involved in the initiation of bladder cancer. 7577470 1995
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Biomarker disease BEFREE At the 9p arm is located the p16 (MTS1) TSG and probably others with an effect on various human tumours such as acute lymphoblastic leukaemia, bladder cancer, gliomas, malignant mesotheliomas, melanomas and non-small cell lung carcinomas. 7585472 1995
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Biomarker disease BEFREE We conclude that p16 represents the major target for deletion at 9p21 in bladder cancer. 8541841 1995
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease BEFREE Infrequent somatic mutations of the p16 and p15 genes in human bladder cancer: p16 mutations occur only in low-grade and superficial bladder cancers. 8747595 1995
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease BEFREE Three conclusions can be drawn from our findings: (i) p16(INK4) alterations are more frequent in cell lines than in primary tumors; (ii) in primary bladder tumors (bilharziasis-associated or not), p16(INK4) deletions are much more frequent than p16(INK4) mutations; (iii) p16(INK4) alterations are more frequent in bilharziasis-associated bladder tumors than in other bladder tumors. 8900425 1996
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease BEFREE Therefore, we applied gene-specific probes for CDKN2 and the interferon alpha gene (IFNA), also located at 9p21, to characterize further the genomic deletions at this locus in bladder cancer. 9171998 1997
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease BEFREE Deletion analysis at the DEL-27, APC and MTS1 loci in bladder cancer: LOH at the DEL-27 locus on 5p13-12 is a prognostic marker of tumor progression. 9221807 1997
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease BEFREE We measured the CDKN2A/p16 tumor suppressor gene locus in bladder irrigation specimens and correlated the measurement with the clinical status of patients with bladder cancer. 9334586 1997
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Biomarker disease BEFREE Using a novel approach, we tested these hypotheses in the present study by examining p16 and pRb status in primary culture (P0) and after passage in vitro of transitional cell carcinoma (TCC) biopsies that represented both superficial bladder tumors and invasive bladder cancers. 9436977 1998
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Biomarker disease BEFREE Detailed methylation analysis using genomic bisulfite sequencing was performed on a series of subclones of a bladder cancer cell line in which a hypermethylated p16 gene had been reactivated by transient treatment with 5-aza-2'-deoxycytidine. 9515812 1998
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Biomarker disease BEFREE A comparison between microsatellite and quantitative PCR analyses to detect frequent p16 copy number changes in primary bladder tumors. 9516934 1998
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 AlteredExpression disease BEFREE Presence and location of TP53 mutation determines pattern of CDKN2A/ARF pathway inactivation in bladder cancer. 9850064 1998
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Biomarker disease BEFREE These results strongly support the hypothesis that the RB nuclear overexpression recently associated with poor prognosis in bladder cancer is also associated with loss of p16 function and implies that loss of p16 function could be equally deleterious as RB loss in bladder and likely other cancers. 10022125 1999
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 PosttranslationalModification disease BEFREE In conclusion, deletions and methylation of the INK4A gene occur frequently in superficial bladder tumors. 10393843 1999
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease BEFREE These observations as well as the observation that bladder cancer is associated with deletions of CDKN2, a gene important in normal senescence, led us to examine normal urothelial cell response to H2O2. 10938379 2000
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 PosttranslationalModification disease BEFREE To see whether normal mucosa had already acquired genetic or epigenetic changes, we examined loss of heterozygosity (LOH) at 10 microsatellite loci and methylation of the p16(INK4) CpG island in multiple tumors and pathologically normal mucosa in six patients with bladder cancer. 10945601 2000
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Biomarker disease BEFREE Alteration of the p16 and p15 genes appears to be an early event in bladder cancer which occurs more frequently in SABC and SCC, and may play an important role in the development of schistosomal bladder cancer. 10958872 2000
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Biomarker disease BEFREE High frequency of p16 alteration and high local recurrence rate of bladder cancer make this cancer an ideal target for p16 gene therapy. 11205911 2001
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Biomarker disease BEFREE To better define cytogenetic mechanisms of CDKN2 loss at 9p21 and of DBCCR1 loss at 9q33 in bladder cancer, and to determine correlation with p53 and pRb. 11410506 2001
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 PosttranslationalModification disease LHGDN In 22 paired voided urine samples of bladder cancer, methylation of DAPK, RARbeta, E-cadherin, and p16 could be detected in 45.5%, 68.2%, 59.1%, and 13.6% of the cases, respectively. 11839665 2002
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 PosttranslationalModification disease LHGDN We analyzed loss of heterozygosity in six microsatellite markers (D17S695, D17S654, D13S310, TH2, D9S747, and D9S161), p53 and K-ras mutations, and the promoter status of p14ARF and p16INK4a in the mononuclear normal blood cells, tumor, and plasma DNA of 27 bladder cancer patients. 11948103 2002