|
rs771138120
|
|
|
0.070 |
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 |
|
rs771138120
|
|
|
0.070 |
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 |
|
rs771138120
|
|
|
0.070 |
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 |
|
rs771138120
|
|
|
0.070 |
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 |
|
rs771138120
|
|
|
0.070 |
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 |
|
rs3731249
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Our data suggest that CDKN2A p.A148T</span> is a m</span>elanoma susceptibility allele in Southern Brazil and is particularly common in patients with melanoma of predominantly European ancestry.
|
21895773 |
2011 |
|
rs104894095
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scottish ancestry.
|
17171691 |
2007 |
|
rs3731249
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The proportion of cases with polymorphisms in this Latvian me</span>lanoma population was Ala148Thr (c.442G>A) (6%), 500 C/G (c.*29C>G) (18%), and 540 C/T (c.*69C>T) (20%); however, only the frequency of the Ala148Thr polymorphism was higher in melanoma patients than in 203 controls (6 versus 1%, P=0.03).
|
17505264 |
2007 |
|
rs3731249
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The obtained results allow us to conclude: (i) survival times of 500 C/G carriers vs. cumulating proportion surviving was not statistically significant; (ii) CDKN2a polymorphism 500 C/G correlated with Ala148Thr; (iii) no correlation was observed between the 500 C/G polymorphism and age of diagnosis, localization of primary melanoma and survival time; (iv) we did not find correlation between 500 C/G and type of cancer in the family; (v) changes in the CDKN2a gene were not found in patients with second cancer.
|
17351674 |
2007 |
|
rs3731249
|
|
|
0.060 |
GeneticVariation |
BEFREE |
A common missense variant of the CDKN2A gene (A148T) predisposes to malignant melanoma in Poland.
|
15879498 |
2005 |
|
rs3731249
|
|
|
0.060 |
GeneticVariation |
BEFREE |
In conclusion, the A148T variant of the CDKN2A gene seems to be associated with an increased risk of development of MM.
|
15705881 |
2005 |
|
rs104894095
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The previously described Met53Ile CDKN2A mutation located in exon 2 was detected in a female patient with melanoma metastatic to the regional lymph nodes, multiple primary cutaneous lesions, atypical naevi and a first-degree relative with melanoma.
|
12459645 |
2002 |
|
rs3731249
|
|
|
0.060 |
GeneticVariation |
BEFREE |
There was no association between Ala148Thr status and nevus number or history of melanoma, and therefore the results did not support the hypothesis that the Ala148Thr variant is a low penetrance melanoma or nevus susceptibility allele.
|
12406345 |
2002 |
|
rs104894095
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The cellular activities of four melanoma-associated p16(INK4a) mutations (Arg24Pro, Ala36Pro, Met53Ile, and Val126Asp) were compared by use of inducible expression in stably transfected melanoma cells, deficient in expression of the endogenous protein, and compared with their ability to bind CDK4.
|
11595726 |
2001 |
|
rs104894095
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Among a group of 49 patients, we detected 1 (2%; 95% confidence interval, 0.07%-10.8%) Met 53 Ile CDKN2A mutation, which was found in a patient with a strong family history of melanoma.
|
10987867 |
2000 |
|
rs104894095
|
|
|
0.060 |
GeneticVariation |
BEFREE |
One multiple primary melanoma patient also has the Met 53 Ile mutation and a second has a G-T substitution at the IVS2 + 1 splice donor site.
|
9699728 |
1998 |
|
rs104894095
|
|
|
0.060 |
GeneticVariation |
BEFREE |
In binding assays the protein expressed from the previously described mutation, Met53Ile, did not bind to CDK4/CDK6, confirming its role as a causal mutation in the development of melanoma.
|
9328469 |
1997 |
|
rs104894098
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We found the disease-associated mutations p.R24P (8×), p.N71T (1×), p.G101W (1×), and p.V126D (1×) in the group with affected relatives and p.R24P (2×) in the group with several primary melanomas.
|
26225579 |
2015 |
|
rs104894098
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We compared the gene expression profile of SFs from FM individuals with two distinct CDKN2A/p16 mutations (V126D-p16 and R87P-p16) with the gene expression profile of SFs from age-matched individuals without p16 mutations and with no family history of melanoma.
|
23371019 |
2013 |
|
rs104894098
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Phenotypic characteristics of members of a melanoma prone kindred with a V126D CDKN2A gene mutation were monitored over approximately 15 y. Thirty-eight previously studied subjects were recruited.
|
15304099 |
2004 |
|
rs104894098
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The cellular activities of four melanoma-associated p16(INK4a) mutations (Arg24Pro, Ala36Pro, Met53Ile, and Val126Asp) were compared by use of inducible expression in stably transfected melanoma cells, deficient in expression of the endogenous protein, and compared with their ability to bind CDK4.
|
11595726 |
2001 |
|
rs104894098
|
|
|
0.050 |
GeneticVariation |
BEFREE |
All other variants detected either constitutionally in familial melanoma patients (I49T, R87P, G101W and V126D) or somatically in melanomas (N71S, and P81L), appeared functionally impaired in this assay.
|
10389768 |
1999 |
|
rs786204195
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Furthermore, the germline P48T mutation was found in the CDKN2A gene exon 1, which is known to be associated with melanoma and pancreatic cancer.
|
18299477 |
2008 |
|
rs786204195
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our data suggest that the P48T mutation of p16 is a strong melanoma-predisposing factor, but the fact that the heterozygous mutant parents have not yet exhibited melanoma or atypical moles indicates that the penetrance of this allele might depend on modifying factors.
|
17625456 |
2007 |
|
rs786204195
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The P48T germline mutation and polymorphism in the CDKN2A gene of patients with melanoma.
|
16470311 |
2006 |