|
rs104894340
|
|
|
0.740 |
GeneticVariation |
BEFREE |
We observed no disease-related mutations in CDKN2A, but one patient had a CDK4 R24H mutation and strong family history of melanoma.
|
19238106 |
2009 |
|
rs104894340
|
|
|
0.740 |
GeneticVariation |
BEFREE |
No disease-related CDKN2A germline mutations were identified in any of the melanoma patients analysed but the previously described CDK4 mutation, Arg24His, was found in one patient with a family history of melanoma.
|
17505264 |
2007 |
|
rs104894340
|
|
|
0.740 |
GeneticVariation |
BEFREE |
In this article, we report that CDK4 codon 24 is mutated from CGT to CAT (Arg24His) in this unusually large melanoma kindred.
|
15880589 |
2005 |
|
rs104894340
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Dominant activating mutations affecting codon 24 of the CDK4 gene (replacement of Arg24 by Cys or His) render CDK4 insensitive to p16(INK4) inhibition and are responsible for melanoma susceptibility in some kindreds.
|
12904177 |
2003 |
|
rs11547328
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To study the mutagenic mechanisms by which acute sunburn accelerates MM, we sequenced the exomes of spontaneous and neonatal UVB-induced Cdk4-R24C::Tyr-NRASQ61K mouse MMs.
|
26477315 |
2016 |
|
rs11547328
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (constitutively active RAS) or mutant activated CDK4(R24C/R24C) (prevents binding of CDK4 by kinase inhibitor p16(INK4A)) with an epidermis-specific knockout of the nuclear retinoid X receptor alpha (RXRα(ep-/-)) results in increased melanoma formation after chronic ultraviolet-B (UVB) irradiation compared with control mice with functional RXRα.
|
25189354 |
2015 |
|
rs11547328
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Taken together, our results demonstrate that primary and metastatic melanomas developing spontaneously in Hgf-Cdk4(R24C) mice effectively evade cellular immune surveillance.
|
20649939 |
2010 |
|
rs11547328
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We previously showed that mice carrying an activated Cdk4 mutation together with melanocyte-specific mutant Hras (Cdk4(R24C/R24C)/TPras) develop melanoma spontaneously, but penetrance is increased and age of onset reduced after neonatal ultraviolet radiation (UVR) exposure.
|
18386818 |
2008 |
|
rs11547328
|
|
|
0.100 |
GeneticVariation |
BEFREE |
HGF x CDK4(R24C) mice rapidly develop multiple invasive melanomas</span> in the skin following neonatal carcinogen treatment, which spontaneously metastasize to lymph nodes and lungs.
|
16707471 |
2006 |
|
rs11547328
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Dominant activating mutations affecting codon 24 of the CDK4 gene (replacement of Arg24 by Cys or His) render CDK4 insensitive to p16(INK4) inhibition and are responsible for melanoma susceptibility in some kindreds.
|
12904177 |
2003 |
|
rs11547328
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A mutation of the p16(INK4a)-binding domain of the cyclin dependent kinase 4 (CDK4) gene, R24C, has been reported in some cases of melanoma.
|
12731669 |
2003 |
|
rs11547328
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The observation that a wide variety of tumors develop in mice harboring the Cdk4(R24C) mutation offers a genetic proof that Cdk4 activation may constitute a central event in the genesis of many types of cancers in addition to melanoma.
|
11756559 |
2002 |
|
rs11547328
|
|
|
0.100 |
GeneticVariation |
BEFREE |
As the pivotal residues around the most predominant R24C activating CDK4 mutation are invariant between CDK2 and CDK4, we speculated that the pivotal arginine (position 22 in CDK2), or a nearby residue, may be mutated in some melanomas, resulting in the diminution of its binding and inhibition by p27KIP1 or p21CIP1.
|
11479422 |
2001 |
|
rs11547328
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In the case of CDK4, only one specific mutation, resulting in the substitution of a cysteine for an arginine at codon 24 (R24C), has been found to be associated with melanoma.
|
9416844 |
1997 |
|
rs11547328
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The recent discovery of a common missense mutation (Arg24Cys) in both sporadic and familial forms of malignant melanoma strongly supports the candidacy of CDK4 as a proto-oncogene.
|
9311594 |
1997 |
|
rs143670820
|
|
|
0.010 |
GeneticVariation |
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 |