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: C0025202
Disease: melanoma
melanoma
0.800 Biomarker 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

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation 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

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation 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

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation 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

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation 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

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 Biomarker BEFREE CDKN2A was first identified as melanoma predisposition tumour suppressor gene and has been successively studied. 30039340

2019

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Pancreatic cancer and melanoma related perceptions and behaviors following disclosure of CDKN2A variant status as a research result. 30992552

2019

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation 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

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation 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

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 Biomarker 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

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families. 30414346

2019

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 Biomarker 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

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation 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

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation 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

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation 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

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation 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

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation 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

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation 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

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation 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

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 Biomarker BEFREE All patients with melanoma were CDKN2A carriers and all melanomas were discovered at a very early stage. 29542807

2018

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 Biomarker 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

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE We performed the first genome-wide linkage analysis in CDKN2A-negative Spanish melanoma-prone families to identify novel melanoma susceptibility loci. 29706638

2018

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation 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

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation 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

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation 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