Cutaneous Melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We identified germline mutations in highly CM-associated genes (CDKN2A and CDK4) and low/medium-penetrance variants (MC1R and MITF) in patients with multiple primary CMs or individuals with one or more CM and a positive family history for CM or pancreatic cancer among first- or second-degree relatives.
|
27473757 |
2016 |
Cutaneous Melanoma
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Cutaneous Melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To conclude, we propose that mutation screening of CDKN2A and CDK4 in Denmark should predominantly be performed in families with at least 3 cases of CM.
|
25803691 |
2015 |
Cutaneous Melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This is the first estimate of the contribution of BAP1 and CDK4 to a population-based sample of CMM and supports the previously reported estimate of CDKN2A germline mutation prevalence.
|
25787093 |
2015 |
Cutaneous Melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The current study sought to investigate whether the presence of germline CDKN2A mutations or the occurrence of cutaneous melanoma would result in constitutive genome-wide DNA methylation changes.
|
25236571 |
2014 |
Cutaneous Melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in CDKN2A and/or red hair color variants in MC1R genes are associated with an increased susceptibility to develop cutaneous melanoma or non melanoma skin cancer.
|
24742402 |
2014 |
Cutaneous Melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the cyclin-dependent kinase inhibitor-2A (CDKN2A) gene have been associated with a number of malignancies, most notably cutaneous malignant melanoma (CMM).
|
23613284 |
2013 |
Cutaneous Melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
CDKN2A and CDK4 are high risk susceptibility genes for cutaneous malignant melanoma.
|
23384855 |
2013 |
Cutaneous Melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The association of longer TL with CMM risk was seen in CDKN2A- cases but not in CDKN2A+ cases.
|
23990928 |
2013 |
Cutaneous Melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our findings did not support a significant association between constitutional LINE-1 methylation in PBMCs and risk of CMM in melanoma-prone families with or without CDKN2A mutations.
|
23222549 |
2013 |
Cutaneous Melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
A total of 586 individuals (183 CMM) from 53 families (23 CDKN2A (+), 30 CDKN2A (-)) were genotyped for 2964 tagSNPs in 131 DNA repair genes.
|
21671477 |
2012 |
Cutaneous Melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study shows that factors associated with CDKN2A mutations differ by extent of CM family clustering.
|
22841127 |
2012 |
Cutaneous Melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Occupational sun exposure increased CM risk (three to sixfold) in both CDKN2A-negative and CDKN2A-positive individuals, reflecting the occupational habits of the Ligurian population and the geographical position of Liguria.
|
22804906 |
2012 |
Cutaneous Melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
CDKN2A mutations confer a substantial risk of cutaneous melanoma; however, the magnitude of risk is uncertain.
|
21325014 |
2011 |
Cutaneous Melanoma
|
0.700 |
Biomarker
|
disease |
CTD_human |
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.
|
22080950 |
2011 |
Cutaneous Melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma.
|
21801156 |
2011 |
Cutaneous Melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Brazil.
|
21895773 |
2011 |
Cutaneous Melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Germline testing for CDKN2A might be reserved for patients with UM with a family history of two or more CM.
|
21412176 |
2011 |
Cutaneous Melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In the supplementary meta-analyses, a locus at 9p21.3 (CDKN2A/MTAP) reached genome-wide statistical significance with CM and had strong epidemiological credibility.
|
21693730 |
2011 |
Cutaneous Melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
CDKN2A and CDK4 are the only known high-penetrant genes conferring proneness to cutaneous melanoma.
|
20132244 |
2010 |
Cutaneous Melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this review we describe some of the important risk loci and their association to risk of developing cutaneous melanoma and also address the current clinical challenges in CDKN2A genetic testing.
|
21051013 |
2010 |
Cutaneous Melanoma
|
0.700 |
PosttranslationalModification
|
disease |
BEFREE |
High frequency of p16(INK4A) promoter methylation in NRAS-mutated cutaneous melanoma.
|
20703244 |
2010 |
Cutaneous Melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To identify 9p21 variants that influence susceptibility to CMM and number of nevi in CMM-prone families with and without CDKN2A mutations, we analyzed 562 individuals (183 CMM) from 53 families (23 CDKN2A+, 30 CDKN2A-) for 233 tagging SNPs in 21 genes at 9p21.
|
20574843 |
2010 |
Cutaneous Melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This report suggests that INK4a germline mutations associated with FAMMM/FAMMM-PC can also be associated with HNSCC.
|
19360740 |
2009 |
Cutaneous Melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We investigated MC1R and CDKN2A variation in relation to phenotype, clinical factors and CMM risk in the Swedish population.
|
19077144 |
2009 |