|
rs1034265990
|
|
|
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
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
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 |
|
rs104894095
|
|
|
0.060 |
GeneticVariation |
BEFREE |
In binding assays the protein expressed from the previously described mutation, Met53Ile, did not bind to CDK4/CDK6, confirming its role as a causal mutation in the development of melanoma.
|
9328469 |
1997 |
|
rs104894095
|
|
|
0.060 |
GeneticVariation |
BEFREE |
One multiple primary melanoma patient also has the Met 53 Ile mutation and a second has a G-T substitution at the IVS2 + 1 splice donor site.
|
9699728 |
1998 |
|
rs104894095
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scottish ancestry.
|
17171691 |
2007 |
|
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 |
|
rs104894095
|
|
|
0.060 |
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 |
|
rs104894095
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The previously described Met53Ile CDKN2A mutation located in exon 2 was detected in a female patient with melanoma metastatic to the regional lymph nodes, multiple primary cutaneous lesions, atypical naevi and a first-degree relative with melanoma.
|
12459645 |
2002 |
|
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
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
|
|
|
|
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 |
|
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 |