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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
CDKN2A was first identified as melanoma predisposition tumour suppressor gene and has been successively studied.
|
30039340 |
2019 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |