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: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 GeneticVariation group BEFREE The p16 coding gene is often mutated in glioblastomas, pancreatic adenocarcinomas and melanoma-prone pedigrees, but, until recently, the significance of these allelic variants has remained unclear. 7566978 1995
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 Biomarker group BEFREE MTS-1 is a candidate tumor suppressor gene on chromosome 9p21-22, a region frequently observed to have loss of heterozygosity in esophagus squamous cell carcinomas and pancreatic ductal adenocarcinomas. 7845688 1995
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 GeneticVariation group BEFREE The significance of p16 mutations in gastric tumorigenesis was examined by assessing p16 mutations as well as loss of heterozygosity (LOH) on 9p in 13 gastric adenomas and 45 adenocarcinomas. 7775254 1995
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 GeneticVariation group BEFREE Using PCR-SSCP, we analyzed exons one (126 bp) and two (307 bp) of the MTS1 gene to determine the incidence of mutation in a population of 50 primary breast adenocarcinomas and corresponding normal tissue. 7889533 1995
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 Biomarker group BEFREE These results suggest that CDKN2 plays an important role during tumorigenesis or tumor progression in a significant proportion of pancreatic adenocarcinomas. 8589035 1995
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 GeneticVariation group BEFREE We determined the prevalence of allelic loss at 9p21 and mutations in CDKN2 in esophageal adenocarcinomas and investigated the order in which they occurred relative to the development of aneuploidy and cancer during neoplastic progression. 8934532 1996
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 GeneticVariation group BEFREE Mutational analysis of the p16/CDKN2 gene was conducted by direct sequencing of the whole coding sequence (exons 1-3 and flanking splicing sites) in 21 esophageal squamous-cell carcinomas and 3 adenocarcinomas from a high-incidence area of Italy. 8621247 1996
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 GeneticVariation group BEFREE Homozygous deletion of p16 appears to be common in esophageal squamous cell carcinomas but in adenocarcinomas, both gene deletion and transcriptional silencing of p16 were infrequent. 9333024 1997
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 GeneticVariation group BEFREE No evidence of hypermethylation of the CDKN2A gene was found in 50 primary ovarian adenocarcinomas nor in 3 ovarian cancer cell lines. 9052747 1997
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 Biomarker group BEFREE Mutation analysis of the p53, APC, and p16 genes in the Barrett's oesophagus, dysplasia, and adenocarcinoma. 9155671 1997
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 GeneticVariation group BEFREE In search of genetic constellations that might indicate the progression of some PILs toward an invasive phenotype, mutations at both the K-ras and p16 genes were sought within PILs of 10 pancreata resected for adenocarcinoma. 9187111 1997
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 PosttranslationalModification group BEFREE Our data suggest that promoter hypermethylation with LOH is a common mechanism for inactivation of p16 in the pathogenesis of esophageal adenocarcinomas. 9205067 1997
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 GeneticVariation group BEFREE In the rat, 94% of adenocarcinomas induced by the tobacco specific carcinogen 4-methylnitrosamino-1-(3-pyridyl)-1-butanone were hypermethylated at the p16 gene promoter; most important, this methylation change was frequently detected in precursor lesions to the tumors: adenomas, and hyperplastic lesions. 9751761 1998
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 GeneticVariation group BEFREE No mutations in exon 2 of CDKN2 were found in 20 stomach adenocarcinomas. 9873831 1998
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 GeneticVariation group BEFREE All of these infiltrating adenocarcinomas were previously shown to contain alterations in the p16 gene or its promoter. 9788631 1998
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 AlteredExpression group BEFREE From immunohistochemical results, abnormal p16 expression was observed in 66% of NSCLCs, 80% in squamous cell carcinomas and 46% in adenocarcinomas. 9645340 1998
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 GeneticVariation group BEFREE MTS1 gene mutations were detected in 2 adenocarcinomas only; gene methylation was observed in 17 of 72 cases (24%) without any correlations with the variables investigated. 9759649 1998
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 Biomarker group BEFREE Abnormalities involving the p16 (also known as cyclin-dependent kinase N2 [CDKN2], p16 [INK4a], or MTS1) and p53 (also known as TP53) tumor suppressor genes are highly prevalent in esophageal adenocarcinomas. 10601379 1999
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 AlteredExpression group BEFREE The purpose of the present study was to evaluate patterns of p16 expression in a well-characterized cohort of prostatic adenocarcinomas while exploring potential associations between alterations of p16 and clinicopathological variables. 10353729 1999
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 AlteredExpression group BEFREE Both the adenocarcinoma and squamous cell carcinoma components revealed an inverse correlation between the expression pattern of p16 and RB proteins (p < 0.05). 10605694 1999
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 AlteredExpression group BEFREE In contrast, p16 expression was weak in normal endometrium and increased in most cases of hyperplasia, but negative or minimally positive in 74% of the carcinomas and the Hec1B adenocarcinoma cell line, and there was no significant association with Rb immunostaining. 10071231 1999
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 GeneticVariation group BEFREE The pancreatic carcinomas with homozygous p16 deletions were largely devoid of nuclear staining (admixed nonneoplastic cells served as internal positive controls); only one adenocarcinoma each reacted with DCS-50 and the polyclonal antibody, and five were positive with ZJ11, suggesting that nonspecific nuclear staining can occur under certain conditions. 10937052 2000
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 PosttranslationalModification group BEFREE The prevalence of p16 methylation was greater in squamous cell carcinoma (41%) compared with adenocarcinoma (22%; P = 0.03; Fisher's exact test). 11309302 2001
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 GeneticVariation group BEFREE The molecular changes in small cell carcinomas were similar to those of adenocarcinomas occurring at this site, with a high frequency of p53 (75%) and p16INK4a (33%) abnormalities, and a low frequency of deleted in pancreatic carcinoma-4 inactivation (0%) and K-ras codon 12 mutations (17%). 11342770 2001
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 PosttranslationalModification group BEFREE Conversely, promoter hypermethylation of p16 and DAPK was more common in SCC cases than in AC cases. 11448914 2001