|
melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Additionally, we screened these samples for mutations in CDKN2A, a gene in which alterations are well documented in primary melanoma as well as in the germline of familial melanoma.
|
10978354 |
2000 |
|
melanoma
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Age does not appear to be a major indicator of CDKN2A or CDK4 mutations in melanoma patients in Spain.
|
16314743 |
2005 |
|
melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The CDKN2A gene has been described as responsible for melanoma susceptibility in a proportion of families with CMM linked to 9p.
|
9439668 |
1997 |
|
melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The risk of identifying a CDKN2A germline mutation increases with the number of primary melanomas and with the presence of familial history of melanoma.
|
25200134 |
2015 |
|
melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, the cyclin D-dependent kinase inhibitors (CDKIs) p16INK4a and p15INK4b have been localized within chromosome 9p21, and the presence of p16INK4a point mutations has been demonstrated in familial melanoma and melanoma cell lines in vitro.
|
9536218 |
1998 |
|
melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Despite great efforts by many groups worldwide, other high-risk melanoma loci besides CDKN2A still remain elusive.
|
19464594 |
2009 |
|
melanoma
|
0.800 |
Biomarker
|
disease |
LHGDN |
Strong staining of p14 was found in 63% of nodular melanomas and was associated with strong p53 expression (p=0.014), and with high levels of CDK4 (p<0.0001).
|
15547691 |
2004 |
|
melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
MeWo cells, which alone expressed intrinsic wild-type p16 among six melanoma cell lines examined, showed higher radiosensitivity in comparison with the other five melanoma cells.
|
9097983 |
1997 |
|
melanoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The expression of p16(INK4a), the product of a tumor suppressor gene for melanoma, is upregulated in human melanocytes by UVB irradiation.
|
10775848 |
2000 |
|
melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Rare high-penetrance factors are expressed in familial clustering of melanoma and include mutations in CDKN2A (encoding p16(INK4a) and p14(ARF)) and CDK4.
|
19585149 |
2009 |
|
melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Thus, co-occurrence of aberrant BRAF and INK4A may be remnant of changes during melanoma formation without functional significance.
|
18402768 |
2008 |
|
melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The p16-Leiden germline variant in the CDKN2A gene is associated with a high risk of melanoma and pancreatic cancer.
|
25227142 |
2015 |
|
melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
CDKN2 is a tumor suppressor gene that is mutated in pancreatic cancers and is associated with a poorer prognosis and the development of melanoma.
|
9046882 |
1997 |
|
melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
We have analysed CDKN2 coding sequences in pedigrees segregating 9p melanoma susceptibility and 38 other melanoma-prone families.
|
7987388 |
1994 |
|
melanoma
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Alterations in CDKN2A locus as potential indicator of melanoma predisposition in relatives of non-familial melanoma cases.
|
12950144 |
2003 |
|
melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The combination of MMR gene mutations and abnormalities of p16 or other molecular pathways is needed to induce melanocytic carcinogenesis in a familial setting as well as in sporadic MM.
|
18460031 |
2008 |
|
melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
A gene, CDKN2, is an appealing candidate for melanoma susceptibility.
|
8970585 |
1996 |
|
melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We identified five novel CDKN2A variants (Ala57Gly, Pro81Arg, Ala118Val, Leu130Val, and Arg131Pro) and four that previously have been reported in melanoma families (Glu27X, Met53Ile, Arg87Trp, and Ala127Pro).
|
18023021 |
2008 |
|
melanoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The lack of complete concordance between p15 and p16 expression implies that the genes are not functionally redundant and that loss of either gene may be important in the pathogenesis of MM.
|
8873047 |
1996 |
|
melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to determine whether CDKN2A germline mutations are present in patients diagnosed with childhood/adolescent melanoma.
|
15305154 |
2004 |
|
melanoma
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Here we report a novel germline mutation in exon 1 of the CDKN2A gene, E27X, which we first detected in melanoma patients living in or originally from a small geographic area bordering Liguria in north-western Italy.
|
16893909 |
2006 |
|
melanoma
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Furthermore, we observed that a carrier of the founder CDKN2A [p.Leu113Leu;p.Pro114Ser] mutation as well as two MC1R moderate-risk variants, [p.Arg151Cys(+)p.Arg163Gln] developed 22 primary melanomas in the three years that followed initiation of levodopa therapy for Parkinson's disease.
|
17492760 |
2007 |
|
melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the CDKN2A gene are associated with an increased risk of malignant melanoma and pancreatic cancer.
|
27804060 |
2017 |
|
melanoma
|
0.800 |
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 |
|
melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CDKN2A germline mutations have been associated with familial predisposition to melanoma and other tumor types.
|
19712690 |
2009 |