|
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 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 |
|
rs104894099
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We conclude that the Val59Gly mutation is a major contributor to melanoma risk in the families under study and that it may derive from a single ancestral founder of Mediterranean (possibly Jewish) origin.
|
12700603 |
2003 |
|
rs771138120
|
|
|
0.070 |
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 |
|
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 |
|
rs758389471
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a Gly67Ser missense CDKN2A germline mutation in a melanoma-prone family, where one carrier was affected by UM and the other by a CM.
|
14506702 |
2003 |
|
rs104894094
|
|
|
0.800 |
GeneticVariation |
BEFREE |
One G101W-positive PC patient with a melanoma in a first-degree relative harbored a germline deletion of the second allele, including exon 1B.
|
14679123 |
2004 |
|
rs104894094
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We investigated the frequency of the MC1R variants in the Italian region of Liguria, where the occurrence and penetrance of melanoma are low and primary susceptibility is characterized by prevalence of the CDKN2A c.301G>T [p.G101W] founder mutation.
|
15221796 |
2004 |
|
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 |
|
rs104894094
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients.
|
15577313 |
2004 |
|
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 |
|
rs3731249
|
|
|
0.060 |
GeneticVariation |
BEFREE |
A common missense variant of the CDKN2A gene (A148T) predisposes to malignant melanoma in Poland.
|
15879498 |
2005 |
|
rs1444669684
|
|
|
0.020 |
GeneticVariation |
BEFREE |
However, we identified a p14ARF exon 1beta missense germline mutation (G16D) in a melanoma-neural system tumour syndrome (CMM+NST) family and a 8474 bp germline deletion from 196 bp upstream of p14ARF exon 1beta initiation codon to 11233 bp upstream of exon 1alpha of p16(INK4A) in a family with five melanoma cases.
|
15937071 |
2006 |
|
rs786204195
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The P48T germline mutation and polymorphism in the CDKN2A gene of patients with melanoma.
|
16470311 |
2006 |
|
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 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 |
|
rs104894094
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries.
|
17397031 |
2007 |
|
rs104894104
|
|
|
0.010 |
GeneticVariation |
BEFREE |
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 |
|
rs387906410
|
|
|
0.010 |
GeneticVariation |
BEFREE |
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 |
|
rs575031539
|
|
|
0.010 |
GeneticVariation |
BEFREE |
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 |
|
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 |
|
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 |
|
rs1131691186
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy.
|
17992122 |
2007 |
|
rs137854599
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Relatives of affected G89D carriers were at significantly increased risk of melanoma, head and neck cancers, and pancreatic carcinoma compared to relatives of other melanoma patients.
|
18178632 |
2008 |
|
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 |