|
rs104894094
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs104894097
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1064794292
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs36204594
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs755927351
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Melanomas from 10 separate patients (4.9%) were positive for IDH1 R132C (nine) or R132S (one).
|
30003571 |
2018 |
|
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 |
A common missense variant of the CDKN2A gene (A148T) predisposes to malignant melanoma in Poland.
|
15879498 |
2005 |
|
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 |
|
rs759763964
|
|
|
0.020 |
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 |
|
rs878853647
|
|
|
0.020 |
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 |
|
rs104894094
|
|
|
0.800 |
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 |
|
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 |
|
rs559848002
|
|
|
0.020 |
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 |
|
rs11552823
|
|
|
0.010 |
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 |
|
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 |
|
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 |
|
rs876658511
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Carrying any one of the four most frequent MC1R variants (V60L, V92M, R151C, R160W) in CDKN2A mutation carriers was associated with a statistically significantly increased risk for melanoma across all continents (1.24 × 10(-6) ≤ P ≤ .0007).
|
20876876 |
2010 |
|
rs121913388
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Combination therapy with vemurafenib (PLX4032/RG7204) and metformin in melanoma cell lines with distinct driver mutations.
|
21609436 |
2011 |
|
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 |
|
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 |
|
rs104894094
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients.
|
15577313 |
2004 |
|
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 |
|
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 |
|
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 |