|
rs121913248
|
|
melanoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
However, for a precise elucidation of the role of the N-Ras(A18T) mutant in melanoma, additional studies aimed to measure the affinity to guanine nucleotide exchange factors and GTPase-activating proteins are needed.
|
11406571 |
2001 |
|
rs11547328
|
|
melanoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
As the pivotal residues around the most predominant R24C activating CDK4 mutation are invariant between CDK2 and CDK4, we speculated that the pivotal arginine (position 22 in CDK2), or a nearby residue, may be mutated in some melanomas, resulting in the diminution of its binding and inhibition by p27KIP1 or p21CIP1.
|
11479422 |
2001 |
|
rs771138120
|
|
melanoma
|
|
0.070 |
GeneticVariation
|
BEFREE |
As the pivotal residues around the most predominant R24C activating CDK4 mutation are invariant between CDK2 and CDK4, we speculated that the pivotal arginine (position 22 in CDK2), or a nearby residue, may be mutated in some melanomas, resulting in the diminution of its binding and inhibition by p27KIP1 or p21CIP1.
|
11479422 |
2001 |
|
rs766310650
|
|
melanoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
As the pivotal residues around the most predominant R24C activating CDK4 mutation are invariant between CDK2 and CDK4, we speculated that the pivotal arginine (position 22 in CDK2), or a nearby residue, may be mutated in some melanomas, resulting in the diminution of its binding and inhibition by p27KIP1 or p21CIP1.
|
11479422 |
2001 |
|
rs1805007
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
These findings suggest that the R151C</span> variant may be involve</span>d in melanoma tumorigenesis in a dual manner, both as a determinant of fair skin and as a component in an independent additional pathway.
|
11500806 |
2001 |
|
rs885479
|
|
melanoma
|
|
0.070 |
GeneticVariation
|
BEFREE |
The Val60Leu, Val92Met, and Arg163Gln variant alleles, however, were only weakly or not associated with fair skin type and/or red hair, which further illustrates the finding that skin type, hair color, and melanoma are independent outcomes of the presence of melanocortin 1 receptor gene variants.
|
11511307 |
2001 |
|
rs2228479
|
|
melanoma
|
|
0.040 |
GeneticVariation
|
BEFREE |
The Val60Leu, Val92Met, and Arg163Gln variant alleles, however, were only weakly or not associated with fair skin type and/or red hair, which further illustrates the finding that skin type, hair color, and melanoma are independent outcomes of the presence of melanocortin 1 receptor gene variants.
|
11511307 |
2001 |
|
rs1805006
|
|
melanoma
|
|
0.040 |
GeneticVariation
|
BEFREE |
We conclude that numerous melanocortin 1 receptor variants predispose to cutaneous melanoma and that possibly the Asp84Glu variant confers the highest risk.
|
11511307 |
2001 |
|
rs104894097
|
|
melanoma
|
|
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 |
|
rs104894095
|
|
melanoma
|
|
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 |
|
rs104894098
|
|
melanoma
|
|
0.050 |
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 |
|
rs878853645
|
|
melanoma
|
|
0.010 |
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 |
|
rs11547328
|
|
melanoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The observation that a wide variety of tumors develop in mice harboring the Cdk4(R24C) mutation offers a genetic proof that Cdk4 activation may constitute a central event in the genesis of many types of cancers in addition to melanoma.
|
11756559 |
2002 |
|
rs771138120
|
|
melanoma
|
|
0.070 |
GeneticVariation
|
BEFREE |
The observation that a wide variety of tumors develop in mice harboring the Cdk4(R24C) mutation offers a genetic proof that Cdk4 activation may constitute a central event in the genesis of many types of cancers in addition to melanoma.
|
11756559 |
2002 |
|
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 |
|
rs1444669684
|
|
melanoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
We also know from mouse models that Ras/mitogen-activated protein kinase pathway activation is very important in melanoma development, either through direct activation of Ras (e.g., Hras G12V), or via activation of Ras-effector pathways by other oncogenes (e.g., Ret, Hgf/Sf).
|
12406321 |
2002 |
|
rs3731249
|
|
melanoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
There was no association between Ala148Thr status and nevus number or history of melanoma, and therefore the results did not support the hypothesis that the Ala148Thr variant is a low penetrance melanoma or nevus susceptibility allele.
|
12406345 |
2002 |
|
rs768569177
|
|
melanoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
A mutation screen in the LRAT coding region and adjacent intronic sequences revealed several novel mutations in these melanomas as well as in HFSC/2 and F:CCD-1121.Sk cells: a single nucleotide polymorphism in exon 1(37A-->G), a silent mutation in exon 2a (188 A-->G/186 G-->A), and an insertion in the 5'UTR (9-10insC).
|
12419830 |
2002 |
|
rs755878795
|
|
melanoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
A mutation screen in the LRAT coding region and adjacent intronic sequences revealed several novel mutations in these melanomas as well as in HFSC/2 and F:CCD-1121.Sk cells: a single nucleotide polymorphism in exon 1(37A-->G), a silent mutation in exon 2a (188 A-->G/186 G-->A), and an insertion in the 5'UTR (9-10insC).
|
12419830 |
2002 |
|
rs1405419494
|
|
melanoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
A mutation screen in the LRAT coding region and adjacent intronic sequences revealed several novel mutations in these melanomas as well as in HFSC/2 and F:CCD-1121.Sk cells: a single nucleotide polymorphism in exon 1(37A-->G), a silent mutation in exon 2a (188 A-->G/186 G-->A), and an insertion in the 5'UTR (9-10insC).
|
12419830 |
2002 |
|
rs1359132498
|
|
melanoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
A mutation screen in the LRAT coding region and adjacent intronic sequences revealed several novel mutations in these melanomas as well as in HFSC/2 and F:CCD-1121.Sk cells: a single nucleotide polymorphism in exon 1(37A-->G), a silent mutation in exon 2a (188 A-->G/186 G-->A), and an insertion in the 5'UTR (9-10insC).
|
12419830 |
2002 |
|
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
We observed mutations resulting in the V599E amino-acid substitution in 41 of 60 (68%) melanoma metastases, 4 of 5 (80%) primary melanomas and, unexpectedly, in 63 of 77 (82%) nevi.
|
12447372 |
2003 |
|
rs113488022
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
We observed mutations resulting in the V599E amino-acid substitution in 41 of 60 (68%) melanoma metastases, 4 of 5 (80%) primary melanomas and, unexpectedly, in 63 of 77 (82%) nevi.
|
12447372 |
2003 |
|
rs104894095
|
|
melanoma
|
|
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 |
|
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
In addition we have searched for exon 15 BRAF mutations in 24 samples of secondary melanoma from 22 cases of sporadic melanoma and detected the 1796T>A BRAF mutation which leads to a substitution of valine by glutamic acid at position 599 (V599E) in six samples.
|
12619120 |
2003 |