rs104894094
|
|
|
0.800 |
GeneticVariation |
BEFREE |
High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families.
|
11807902 |
2002 |
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 |
rs104894094
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Three of them are CDKN2A mutations previously described in the Mediterranean population (p.G101W, p.V59G and c.358delG) in addition to an undescribed deletion (p. M54del) which has been detected in a melanoma kindred.
|
20653773 |
2010 |
rs104894094
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In two out of six families with both mesothelioma and melanoma we identified either a germline nonsense mutation (c.1153C > T, p.Arg385*) in BAP1 or a recurrent pathogenic germline mutation (c.301G > T, p.Gly101Trp) in CDKN2A.
|
27181379 |
2016 |
rs104894094
|
|
|
0.800 |
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 |
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 |
Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients.
|
15577313 |
2004 |
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 |
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 |
rs104894094
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Two p16 germline mutations were identified: G101W, which has been previously observed in a number of melanoma kindreds, and G122V, a novel missense mutation.
|
10951521 |
2000 |
rs104894097
|
|
|
0.750 |
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 |
rs104894097
|
|
|
0.750 |
GeneticVariation |
BEFREE |
This mutation, Arg24Pro, has previously been identified in a melanoma kindred.
|
9334810 |
1997 |
rs104894097
|
|
|
0.750 |
GeneticVariation |
BEFREE |
We report six of 16 U.K. melanoma families and two of 17 patients with multiple primary melanomas and a negative family history who have between them four different functionally damaging mutations of the CDKN2A (p16) gene: an Arg 24 Pro substitution in exon 1 in one family, a stop codon at codon 44 of exon 1 in one family, and a Met 53 Ile substitution in exon 2 in four families.
|
9699728 |
1998 |
rs104894097
|
|
|
0.750 |
GeneticVariation |
BEFREE |
One novel germline mutation was found in exon one, Arg24Pro, which segregates with melanoma in 1/17 kindreds.
|
8570179 |
1995 |
rs104894097
|
|
|
0.750 |
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 |
rs1064794292
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
|
|
|
rs1064794292
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We detected the p.Gly23Asp missense mutation in one of the two tested melanoma patients of a family with three melanoma cases.
|
19712690 |
2009 |
rs121913386
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
rs121913388
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Combination therapy with vemurafenib (PLX4032/RG7204) and metformin in melanoma cell lines with distinct driver mutations.
|
21609436 |
2011 |
rs121913388
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
rs36204594
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
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 |
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 |
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 |
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 |