|
rs1034265990
|
|
Hereditary Melanoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma.
|
30586141 |
2019 |
|
rs1034265990
|
|
melanoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
POT1 p.I78T is a newly identified, likely pathogenic, variant meriting screening for in families with melanoma after more common predisposition genes such as CDKN2A have been excluded.
|
30586141 |
2019 |
|
rs104894094
|
|
MELANOMA-PANCREATIC CANCER SYNDROME
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Mutations associated with familial melanoma impair p16INK4 function.
|
7647780 |
1995 |
|
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
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
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 |
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 |
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 |
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, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline p16 mutations in familial melanoma.
|
7987387 |
1994 |
|
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, 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, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population.
|
8710906 |
1996 |
|
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, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel germline p16 mutation in familial malignant melanoma in southern Sweden.
|
8653684 |
1996 |
|
rs104894094
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline mutations of the CDKN2 gene in UK melanoma families.
|
9328469 |
1997 |
|
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, 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 |
|
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 reassessment of P16 variants using a transfection-based assay.
|
10389768 |
1999 |
|
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-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
|
|
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
|
A |
0.800 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
rs104894094
|
|
MELANOMA-PANCREATIC CANCER SYNDROME
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Germline p16 mutations in familial melanoma.
|
7987387 |
1994 |