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 Compared with having a truncal melanoma, CDK4 (vs. noncarriers: lower extremities OR = 14.5, 95% confidence interval [CI] = 5.02-42.0, P < 0.001; upper extremities OR = 6.88, 95% CI = 2.37-19.9, P < 0.001; head and neck OR = 18.6, 95% CI = 4.04-85.2, P < 0.001) and CDKN2A (vs. noncarriers: lower extremities OR = 3.01, 95% CI = 1.56-5.82, P < 0.05; upper extremities OR = 1.91, 95% CI = 1.03-3.52, P < 0.05; head and neck OR = 5.40, 95% CI = 2.10-13.9, P < 0.001) carriers had higher odds of developing melanoma at all other sites. 31326397 2020
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation disease BEFREE This study investigated whether genetic counseling and test reporting for the highly penetrant CDKN2A melanoma predisposition gene promoted decreases in sun exposure. 31371819 2020
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.800 Biomarker group BEFREE This study investigated the immunohistochemical expression of retinoblastoma (RB) protein and p16 protein in 10 neuroendocrine carcinomas (NECs), in comparison to two mixed-type NECs; 28 squamous cell carcinomas (SCCs), and 12 carcinosarcomas (CSs) from patients with esophageal cancer. 30952735 2019
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.800 Biomarker group BEFREE To conclude, systemic p16 peptide administration decreased lung tumor development in a mouse metastatic BT model without severe adverse events, as assessed by blood analyses and histological evaluation. 30655885 2019
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.800 Biomarker group BEFREE <b>Patients & methods:</b> Lung tumor tissue microarray (n = 163), immunohistochemical study of p16 and p53, and HPV <i>in-situ</i> hybridization were analyzed. 31157548 2019
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation disease BEFREE In summary, targeted germline sequencing of patients with ≥3 primary melanomas revealed a high rate of pathogenic variants in CDKN2A and other known cancer genes. 31567591 2019
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation disease BEFREE CDKN2A mutations were detected in 6/16 (37.5%) and 3/86 (3.5%) MPM cases with and without family history for melanoma, respectively. 31382929 2019
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation disease BEFREE Assessing a single SNP located at TERT/CLPTM1L multi-cancer risk region as a genetic modifier for risk of pancreatic cancer and melanoma in Dutch CDKN2A mutation carriers. 31203567 2019
CUI: C0025202
Disease: melanoma
melanoma
0.800 Biomarker disease BEFREE CDKN2A was first identified as melanoma predisposition tumour suppressor gene and has been successively studied. 30039340 2019
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation disease BEFREE Pancreatic cancer and melanoma related perceptions and behaviors following disclosure of CDKN2A variant status as a research result. 30992552 2019
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation disease BEFREE This particular CDKN2A mutation has not been previously reported in prior large studies of melanoma kindreds or patients with multiple primary melanomas. 31001908 2019
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation disease BEFREE Coinheritance of germline mutation in cyclin-dependent kinase inhibitor 2A (CDKN2A) and loss-of-function (LOF) melanocortin 1 receptor (MC1R) variants is clinically associated with exaggerated risk for melanoma. 30117292 2019
CUI: C0025202
Disease: melanoma
melanoma
0.800 Biomarker disease BEFREE We sought to determine whether p15 is a useful immunohistochemical marker to distinguish Spitz nevi from spitzoid melanomas and to compare p15 and p16 staining in this population. 30666677 2019
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation disease BEFREE Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families. 30414346 2019
CUI: C0025202
Disease: melanoma
melanoma
0.800 Biomarker disease BEFREE Methylation frequency of CLDN11 (OR, 25.56; 95% CI, 2.32-281.66; p = 0.008), MGMT (OR, 4.64; 95% CI, 1.98-10.90; p = 0.0004), p16 (OR, 4.31; 95% CI, 1.33-13.96; p = 0.01), and RASSF1A (OR, 10.10; 95% CI, 2.87-35.54; p = 0.0003) was significantly higher in metastasis melanoma compared with controls. 30370527 2019
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation disease BEFREE From this cohort, we selected 106 MUT<sup>+</sup> patients (with familial melanoma or apparently sporadic melanoma) and 199 CDKN2A germline mutation-negative (MUT<sup>-</sup>) patients with sporadic melanoma who were matched by age and sex and had a similar tumor stage distribution. 30274933 2019
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation disease BEFREE We examined pigmentation characteristics, total body naevus ≥ 5 mm count, and MC1R, ASIP and CDKN2A genotype in participants with and without a personal history of melanoma, living in Queensland, Australia, which is an area of high ultraviolet radiation. 30820946 2019
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation disease BEFREE GenoMELPREDICT is a simple tool for predicting CDKN2A mutational status among melanoma patients from melanoma-prone families and can aid in directing these patients to receive genetic testing or cancer risk counseling. 30731170 2019
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation disease BEFREE Our findings also show that progression from naevi to malignant melanoma may be driven by the acquisition of additional genetic alterations, including CDKN2A homozygous deletions. 30791119 2019
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation disease BEFREE Germline mutations in CDKN2A result in Familial Atypical Multiple Mole Melanoma Syndrome (FAMMM), which is associated with an increased risk for pancreatic ductal adenocarcinoma and melanoma. 31261289 2019
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation disease BEFREE POT1 p.I78T is a newly identified, likely pathogenic, variant meriting screening for in families with melanoma after more common predisposition genes such as CDKN2A have been excluded. 30586141 2019
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation disease BEFREE From the internal risk factors, family history (odds ratio [OR], 1.76; 95% CI, 1.22-2.55; P = .006), CDKN2A high-risk mutations (OR, 4.03; 95% CI, 1.28-12.70; P = .02), and high numbers of nevi as a phenotypic risk factor (ORs, 2.23 [95% CI, 1.56-3.28, P < .001] for 20-30 smaller nevi and 2.56 [95% CI, 1.50-4.36; P = .003] for 20-30 larger nevi) were significantly associated with the risk of developing a subsequent primary melanoma using multivariate logistic regression analysis. 30566178 2019
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.800 GeneticVariation disease BEFREE This can have implications for screening and for the diagnosis of pancreatic neoplasms in carriers of germline CDKN2A mutations. 31261289 2019
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.800 AlteredExpression group BEFREE SNHG7 can partly promote the development of esophageal cancer by regulating the expression of p15 and p16. 29771415 2018
CUI: C0025202
Disease: melanoma
melanoma
0.800 Biomarker disease BEFREE All patients with melanoma were CDKN2A carriers and all melanomas were discovered at a very early stage. 29542807 2018