|
rs1805008
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Three active alleles (Arg151Cys, Arg160Trp, and Asp294His), previously associated with red hair, doubled CMM risk for each additional allele carried (odds ratio 2.0; 95% confidence interval 1.6-2.6).
|
10631149 |
2000 |
|
rs1805009
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Three active alleles (Arg151Cys, Arg160Trp, and Asp294His), previously associated with red hair, doubled CMM risk for each additional allele carried (odds ratio 2.0; 95% confidence interval 1.6-2.6).
|
10631149 |
2000 |
|
rs1805006
|
|
|
0.020 |
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 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The activating V599E mutation accounted for 80% of all mutations detected in cutaneous melanoma cell lines.
|
12917419 |
2003 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The activating V599E mutation accounted for 80% of all mutations detected in cutaneous melanoma cell lines.
|
12917419 |
2003 |
|
rs758389471
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a Gly67Ser missense CDKN2A germline mutation in a melanoma-prone family, where one carrier was affected by UM and the other by a CM.
|
14506702 |
2003 |
|
rs121913227
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In addition, a double mutation resulting in V599K substitution was detected in two suspect ocular metastases of cutaneous melanoma.
|
14522889 |
2003 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The most common mutation in CM was V599E, but a novel point mutation (L596Q) was identified in two cases and an in-frame deletion/insertion (VKSRWK599-604D) was discovered in one case.
|
14522897 |
2003 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The most common mutation in CM was V599E, but a novel point mutation (L596Q) was identified in two cases and an in-frame deletion/insertion (VKSRWK599-604D) was discovered in one case.
|
14522897 |
2003 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The most common mutation, occurring in 80% of cutaneous melanoma samples, is a T-to-A transition resulting in a single amino acid substitution (V599E).
|
15179189 |
2004 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The most common mutation, occurring in 80% of cutaneous melanoma samples, is a T-to-A transition resulting in a single amino acid substitution (V599E).
|
15179189 |
2004 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The purpose of this study was to determine whether the T1799A BRAF mutation found in cutaneous melanoma is also present in conjunctival melanoma.
|
15277467 |
2004 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
With regard to the frequency of V599E BRAF mutations, AM significantly differs from CM (P < or = .0001), which suggests that BRAF mutations distinguish anorectal from cutaneous melanoma at the molecular level.
|
15578519 |
2004 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
With regard to the frequency of V599E BRAF mutations, AM significantly differs from CM (P < or = .0001), which suggests that BRAF mutations distinguish anorectal from cutaneous melanoma at the molecular level.
|
15578519 |
2004 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Preponderance of the oncogenic V599E and V599K mutations in B-raf kinase domain is enhanced in melanoma cutaneous/subcutaneous metastases.
|
15935100 |
2005 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Preponderance of the oncogenic V599E and V599K mutations in B-raf kinase domain is enhanced in melanoma cutaneous/subcutaneous metastases.
|
15935100 |
2005 |
|
rs121913227
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Preponderance of the oncogenic V599E and V599K mutations in B-raf kinase domain is enhanced in melanoma cutaneous/subcutaneous metastases.
|
15935100 |
2005 |
|
rs25487
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In a hospital-based case-control study of 602 CM patients and 603 cancer-free control subjects frequency matched on age, sex and ethnicity, we genotyped for three non-synonymous single nucleotide polymorphisms (SNPs) (i.e. the ADPRT Val762Ala, XRCC1 Arg399Gln and APE1Asp148Glu) and assessed their associations with risk of CM.
|
16621887 |
2006 |
|
rs1136410
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a hospital-based case-control study of 602 CM patients and 603 cancer-free control subjects frequency matched on age, sex and ethnicity, we genotyped for three non-synonymous single nucleotide polymorphisms (SNPs) (i.e. the ADPRT Val762Ala, XRCC1 Arg399Gln and APE1Asp148Glu) and assessed their associations with risk of CM.
|
16621887 |
2006 |
|
rs137854599
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The G89D variant was present in about 2% of Icelandic invasive cutaneous malignant melanoma cases.
|
18178632 |
2008 |
|
rs1126809
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The variant in TYR encoding the R402Q amino acid substitution, previously shown to affect eye color and tanning response, conferred risk of CM (OR = 1.21, P = 2.8 x 10(-7)) and BCC (OR = 1.14, P = 6.1 x 10(-4)).
|
18488027 |
2008 |
|
rs13006529
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, multivariate logistic regression analysis revealed that CASP8 D302 H, CASP8 -652 6N del, and CASP10 I522L were independent risk factors for CM.
|
18563783 |
2008 |
|
rs3834129
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a hospital-based study of 805 non-Hispanic white patients with CM and 835 cancer-free age-, sex-, and ethnicity-matched controls, we genotyped three reported putatively functional polymorphisms of CASP8 and CASP10-CASP8 D302 H (rs1045485:G>C), CASP8 -652 6N del (rs3834129:-/CTTACT), and CASP10 I522L (rs13006529:A>T)-and assessed their associations with risk of CM and interactions with known risk factors for CM.
|
18563783 |
2008 |
|
rs1805007
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Especially, variant R151C significantly increased the risk of both MM and BCC.
|
18637131 |
2009 |
|
rs1805006
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Although our findings need to be confirmed by independent and larger studies we have described for the first time the association of D84E variant of the alpha-MSH receptor 1 gene as an independent risk factor for an earlier onset of cutaneous malignant melanoma.
|
18657399 |
2008 |