|
Cutaneous Melanoma
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Cutaneous Melanoma
|
0.500 |
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
|
0.500 |
Biomarker
|
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
|
0.500 |
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
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We found an association between the risk of CMM and peripheral blood mononuclear cell methylation levels of TNFα [odds ratio (OR)=1.11, 95% confidence interval (CI)=1.03-1.18], CDK4 (OR=0.76, 95% CI=0.64-0.91), and MLH1 (OR=1.12, 95% CI=1.02-1.22).
|
25026000 |
2014 |
|
Cutaneous Melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Integrative sequencing of cutaneous melanoma metastases using different sequencing platforms revealed a new somatic point mutation in HRAS and a structural rearrangement affecting CDKN2C (a CDK4 inhibitor).
|
23174022 |
2013 |
|
Cutaneous Melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
CDKN2A and CDK4 are high risk susceptibility genes for cutaneous malignant melanoma.
|
23384855 |
2013 |
|
Cutaneous Melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma.
|
21801156 |
2011 |
|
Cutaneous Melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
CDKN2A and CDK4 are the only known high-penetrant genes conferring proneness to cutaneous melanoma.
|
20132244 |
2010 |
|
Cutaneous Melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We performed a genome-wide scan of two Danish pedigrees with multiple cases of OMM (N = 10) and CMM (N = 3) and other malignancies (with no germline mutations in CDKN2A, CDK4, BRCA1, and BRCA2) to identify melanoma susceptibility genes.
|
16174859 |
2005 |
|
Cutaneous Melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Although mutations in two genes, CDKN2A and CDK4, have been shown to confer an increased risk of CMM, they account for only 20%-25% of families with multiple cases of CMM.
|
12844286 |
2003 |
|
Cutaneous Melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
The median age at CMM diagnosis (P =.70) and the median numbers of CMMs (P =.73) did not differ between CMM case subjects from CDKN2A versus CDK4 families.
|
10861313 |
2000 |
|
Cutaneous Melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
: Inherited mutations in the CDKN2A tumor suppressor gene, which encodes the p16(INK4a) protein, and in the cyclin-dependent kinase 4 (CDK4) gene confer susceptibility to cutaneous malignant melanoma.
|
10922411 |
2000 |
|
Cutaneous Melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The CDKN2A gene has been implicated in cutaneous malignant melanoma (CMM) in about 40% of families with linkage to chromosome 9p21, while a small proportion of families have mutations in the CDK4 gene.
|
10874641 |
1999 |
|
Cutaneous Melanoma
|
0.500 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Cutaneous Melanoma
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|