rs104894094
|
|
melanoma
|
|
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
|
|
melanoma
|
|
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
|
|
melanoma
|
|
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
|
|
melanoma
|
|
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
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients.
|
15577313 |
2004 |
rs104894094
|
|
melanoma
|
|
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
|
|
melanoma
|
|
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
|
|
melanoma
|
|
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
|
|
melanoma
|
|
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 |
rs104894094
|
|
melanoma
|
|
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
|
|
melanoma
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|