|
rs104894097
|
|
melanoma
|
|
0.750 |
GeneticVariation
|
BEFREE |
One novel germline mutation was found in exon one, Arg24Pro, which segregates with melanoma in 1/17 kindreds.
|
8570179 |
1995 |
|
rs1805006
|
|
melanoma
|
|
0.040 |
GeneticVariation
|
BEFREE |
The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma.
|
8894704 |
1996 |
|
rs34886500
|
|
melanoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Nucleotide-sequence analysis identified a single point mutation leading to a substitution of leucine for proline in codon 48 of exon 1 in a family with a history of melanoma and several other cancers.
|
9168184 |
1997 |
|
rs11547328
|
|
melanoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The recent discovery of a common missense mutation (Arg24Cys) in both sporadic and familial forms of malignant melanoma strongly supports the candidacy of CDK4 as a proto-oncogene.
|
9311594 |
1997 |
|
rs771138120
|
|
melanoma
|
|
0.070 |
GeneticVariation
|
BEFREE |
The recent discovery of a common missense mutation (Arg24Cys) in both sporadic and familial forms of malignant melanoma strongly supports the candidacy of CDK4 as a proto-oncogene.
|
9311594 |
1997 |
|
rs104894095
|
|
melanoma
|
|
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 |
|
rs1554653960
|
|
melanoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We have identified two novel CDKN2 mutations (88delG and Ala118Thr) which are likely to be associated with the development of melanoma, because of their co-segregation with the disease and their likely functional effect on the CDKN2 protein.
|
9328469 |
1997 |
|
rs104894097
|
|
melanoma
|
|
0.750 |
GeneticVariation
|
BEFREE |
This mutation, Arg24Pro, has previously been identified in a melanoma kindred.
|
9334810 |
1997 |
|
rs11547328
|
|
melanoma
|
|
0.100 |
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
|
|
melanoma
|
|
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 |
|
rs104894097
|
|
melanoma
|
|
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 |
|
rs104894095
|
|
melanoma
|
|
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 |
|
rs866551255
|
|
melanoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Intriguingly, the subclass exemplified by the melanoma-derived N50S mutant may promote tumorigenesis, by both attenuating CDK-inhibitory function and concomitantly activating the proto-oncogenic cyclin D-dependent kinases.
|
9823309 |
1998 |
|
rs138106763
|
|
melanoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Intriguingly, the subclass exemplified by the melanoma-derived N50S mutant may promote tumorigenesis, by both attenuating CDK-inhibitory function and concomitantly activating the proto-oncogenic cyclin D-dependent kinases.
|
9823309 |
1998 |
|
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 |
|
rs104894098
|
|
melanoma
|
|
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 |
|
rs878853647
|
|
melanoma
|
|
0.020 |
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 |
|
rs759763964
|
|
melanoma
|
|
0.020 |
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 |
|
rs559848002
|
|
melanoma
|
|
0.020 |
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 |
|
rs11552823
|
|
melanoma
|
|
0.010 |
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
|
|
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
|
|
melanoma
|
|
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 |
|
rs1805007
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
MC1R gene variants have previously been associated with red hair and fair skin color, moreover skin ultraviolet sensitivity and a strong association with melanoma has been demonstrated for three variant alleles that are active in influencing pigmentation: Arg151Cys, Arg160Trp, and Asp294His.
|
11179997 |
2001 |
|
rs1805008
|
|
melanoma
|
|
0.090 |
GeneticVariation
|
BEFREE |
MC1R gene variants have previously been associated with red hair and fair skin color, moreover skin ultraviolet sensitivity and a strong association with melanoma has been demonstrated for three variant alleles that are active in influencing pigmentation: Arg151Cys, Arg160Trp, and Asp294His.
|
11179997 |
2001 |
|
rs1805009
|
|
melanoma
|
|
0.070 |
GeneticVariation
|
BEFREE |
MC1R gene variants have previously been associated with red hair and fair skin color, moreover skin ultraviolet sensitivity and a strong association with melanoma has been demonstrated for three variant alleles that are active in influencing pigmentation: Arg151Cys, Arg160Trp, and Asp294His.
|
11179997 |
2001 |