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: C0025202
Disease: melanoma
melanoma
0.800 Biomarker disease BEFREE Within CDKN2A + families, pediatric patients with melanoma were significantly more likely to have multiple melanomas compared with their relatives who were diagnosed at age >20 years (71% vs 38%, respectively; P = .004). 30207590 2018
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation disease BEFREE We performed the first genome-wide linkage analysis in CDKN2A-negative Spanish melanoma-prone families to identify novel melanoma susceptibility loci. 29706638 2018
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation disease BEFREE We examined the immediate and delayed psychological impact of returning a CDKN2A variant result that is associated with increased risk of pancreatic cancer and melanoma. 30999302 2018
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation disease BEFREE Members of CDKN2A mutation carrying families who test negative for their family's mutation have moderately increased risk for melanoma and should, in addition to being considered for continuing dermatologic surveillance, be encouraged to follow sun safety recommendations and practice skin self-exams. 29215650 2018
CUI: C0025202
Disease: melanoma
melanoma
0.800 Biomarker disease CTD_human Genetic alterations driving metastatic colony formation are acquired outside of the primary tumour in melanoma. 29426936 2018
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation disease BEFREE In this study, we show that in an area with low melanoma incidence, CDKN2A germline mutations in patients with melanoma and personal or family history of pancreatic cancer are mainly present in the setting of familial or multiple melanoma cases. 29543703 2018
CUI: C0025202
Disease: melanoma
melanoma
0.800 Biomarker disease BEFREE These results demonstrate a mechanism by which CDKN2A suppresses the initiation of melanoma invasion through inhibition of BRN2. 29990501 2018
CUI: C0025202
Disease: melanoma
melanoma
0.800 Biomarker disease BEFREE Genetic test reporting of CDKN2A provides informational and motivational benefits for managing melanoma risk. 29385581 2018
CUI: C0025202
Disease: melanoma
melanoma
0.800 AlteredExpression disease BEFREE The combination of highly atypical cytomorphology and architecture, increased mitoses, and p16 expression loss compelled the diagnosis of melanoma. 29771690 2018
CUI: C0025202
Disease: melanoma
melanoma
0.800 Biomarker disease BEFREE Immunohistochemistry for p16 has been recently utilized to distinguish benign nevi from melanoma. 30178478 2018
CUI: C0025202
Disease: melanoma
melanoma
0.800 Biomarker disease BEFREE Such immunogenic cell death, mediated by the combined transfer of the alternate reading frame (p14ARF in humans and p19Arf in mice) and the interferon-β cDNA in our case, was shown to promote an antitumor immune response in mouse models of melanoma and lung carcinoma. 30208166 2018
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation disease BEFREE This study investigated whether genetic counseling and test reporting for the CDKN2A/p16 mutation, which confers highly elevated melanoma risk, improved sun protection without inducing distress. 29349527 2018
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation disease BEFREE This study confirmed that, in the Greek population, the age at melanoma diagnosis was lower in patients carrying a variant in CDKN2A compared with wild-type patients. 29774366 2018
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation disease BEFREE UV-induced mutations in TP53 and CDKN2A are frequent in melanoma. 29374752 2018
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation disease BEFREE Approximately five to 10% of all melanomas occur in families with hereditary predisposition and the main high-risk melanoma susceptibility gene is the CDKN2A. 29924249 2018
CUI: C0025202
Disease: melanoma
melanoma
0.800 AlteredExpression disease BEFREE We found statistically significant differences between Spitz nevus and melanoma for the following features: pagetoid spread, atypia, maturation, elastosis, Kamino bodies, p16 expression, and the staining pattern of HMB45. 29417221 2018
CUI: C0025202
Disease: melanoma
melanoma
0.800 Biomarker disease BEFREE Analyzing melanoma cell lines (n = 46, applying next-generation targeted sequencing and single nucleotide polymorphism arrays) as well as available genomic data sets from The Cancer Genome Atlas (TCGA) tumor tissue samples (cutaneous melanoma n = 367, lung squamous cell carcinoma n = 501, bladder urothelial carcinoma n = 408, breast invasive carcinoma n = 768, colorectal adenocarcinoma n = 257), we demonstrate that the frequent chromosomal losses of the tumor suppressor CDKN2A in melanoma and other tumor entities enhance the susceptibility to IFNγ resistance by concomitant deletion of the JAK2 gene (odds ratio = 223.17, 95% confidence interval = 66.91 to 1487.38, two-sided P = 7.6×10-46). 29917141 2018
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.800 Biomarker group BEFREE Epigallocatechin-3-gallate inhibits growth and induces apoptosis in esophageal cancer cells through the demethylation and reactivation of the p16 gene. 28693288 2017
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.800 Biomarker group BEFREE Our findings indicate that CDKN2A methylation has a vital role in EC tumorigenesis and could be a biomarker for early diagnosis of EC. 28637022 2017
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.800 Biomarker group BEFREE The p53 expression was positive in 67.5% of tumor tissue, 20.0% of adjacent non-tumoral tissue and 1.8% of normal esophageal tissue. p16 was positive in 11.6% of esophageal cancer cases and 4.7% of adjacent non-tumoral tissue. p16 was undetectable among control group samples. p53 and p16 levels were not significantly associated with the HPV status. 28529620 2017
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.800 GeneticVariation group BEFREE Hypermethylation of p16 gene was not found in healthy controls. p53 Pro/Pro genotype was found to be a risk genotype in Northeast India compared with Arg/Pro and Arg/Arg. p53 variant/polymorphism was significantly associated with esophageal cancer risk in the study population under all three genetic models, namely, dominant model (Arg/Pro + Pro/Pro vs Arg/Arg odds ratio = 2.25, confidence interval = 1.19-4.26; p = 0.012), recessive model (Arg/Arg + Arg/Pro vs Pro/Pro odds ratio = 2.35, confidence interval = 1.24-4.44; p = 0.008), and homozygous model (Pro/Pro vs Arg/Arg odds ratio = 3.33, confidence interval = 1.54-7.20; p = 0.002). 28459370 2017
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.800 AlteredExpression group BEFREE HPV infection and p53 and p16 expression in esophageal cancer: are they prognostic factors? 29046713 2017
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.800 Biomarker group BEFREE Low expression of (or IHC-negative) COX2, miR-200c, ERCC1 and TS, or high expression of (or IHC-positive) CDC25B and p16 are potential biomarkers for predicting the response of esophageal cancer patients treated with chemo(radio)therapy. 29113666 2017
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation disease BEFREE Germline mutations in the CDKN2A gene are associated with an increased risk of malignant melanoma and pancreatic cancer. 27804060 2017
CUI: C0025202
Disease: melanoma
melanoma
0.800 Biomarker disease BEFREE We also used a novel mouse model of melanoma to demonstrate that several of these MEK mutants promote the development, growth and maintenance of melanoma in vivo in the context of Cdkn2a and Pten loss. 28263969 2017