|
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-PANCREATIC CANCER SYNDROME
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.
|
26681309 |
2016 |
|
rs104894094
|
|
MELANOMA-PANCREATIC CANCER SYNDROME
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup.
|
26775776 |
2016 |
|
rs104894094
|
|
MELANOMA-PANCREATIC CANCER SYNDROME
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Germline CDKN2A mutations in childhood melanoma: a case of melanoma-pancreatic cancer syndrome.
|
26381259 |
2015 |
|
rs104894094
|
|
MELANOMA-PANCREATIC CANCER SYNDROME
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
|
25645574 |
2015 |
|
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-PANCREATIC CANCER SYNDROME
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Classifying variants of CDKN2A using computational and laboratory studies.
|
21462282 |
2011 |
|
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-PANCREATIC CANCER SYNDROME
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A.
|
20340136 |
2010 |
|
rs104894094
|
|
MELANOMA-PANCREATIC CANCER SYNDROME
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.
|
19260062 |
2009 |
|
rs104894094
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.
|
19260062 |
2009 |
|
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 |
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 |
Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients.
|
15577313 |
2004 |
|
rs104894094
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.
|
14646619 |
2003 |
|
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, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline mutation of ARF in a melanoma kindred.
|
12019208 |
2002 |
|
rs104894094
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.
|
11506491 |
2001 |
|
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-PANCREATIC CANCER SYNDROME
|
A |
0.800 |
CausalMutation
|
CLINVAR |
A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families.
|
10869234 |
2000 |
|
rs104894094
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia.
|
10874641 |
1999 |
|
rs104894094
|
|
MELANOMA-PANCREATIC CANCER SYNDROME
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Functional reassessment of P16 variants using a transfection-based assay.
|
10389768 |
1999 |
|
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, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Five novel somatic CDKN2/p16 mutations identified in melanoma, glioma and carcinoma of the pancreas. Mutations in brief no. 170. Online.
|
10651484 |
1998 |