|
Cutaneous Melanoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We identified germline mutations in highly CM-associated genes (CDKN2A and CDK4) and low/medium-penetrance variants (MC1R and MITF) in patients with multiple primary CMs or individuals with one or more CM and a positive family history for CM or pancreatic cancer among first- or second-degree relatives.
|
27473757 |
2016 |
|
Cutaneous Melanoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our study documents the important role of all the main MC1R variants in sporadic CM and suggests that they have a direct effect on melanoma risk, independently on the phenotypic characteristics of carriers.
|
24917043 |
2015 |
|
Cutaneous Melanoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Dermoscopic features of cutaneous melanoma are associated with clinical characteristics of patients and tumours and with MC1R genotype.
|
24588892 |
2014 |
|
Cutaneous Melanoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in CDKN2A and/or red hair color variants in MC1R genes are associated with an increased susceptibility to develop cutaneous melanoma or non melanoma skin cancer.
|
24742402 |
2014 |
|
Cutaneous Melanoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Recent research has investigated the role of melanocortin 1 receptor (MC1R), a gene associated with red-hair phenotype in White individuals and with increased risk for developing CMM, in the mitogen-activated protein kinase (MAPK) pathway.
|
24443365 |
2014 |
|
Cutaneous Melanoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
NRAS and BRAF mutations in cutaneous melanoma and the association with MC1R genotype: findings from Spanish and Austrian populations.
|
23096702 |
2013 |
|
Cutaneous Melanoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Inherited variants in the MC1R gene and survival from cutaneous melanoma: a BioGenoMEL study.
|
22325793 |
2012 |
|
Cutaneous Melanoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
MC1R variants predisposing to concomitant primary cutaneous melanoma in a monozygotic twin pair.
|
22978401 |
2012 |
|
Cutaneous Melanoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Multivariate analysis showed that MC1R variation, number of nevi and childhood sunburns doubled CM risk in CDKN2A-negative individuals.
|
22804906 |
2012 |
|
Cutaneous Melanoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Melanocortin 1 receptor and risk of cutaneous melanoma: a meta-analysis and estimates of population burden.
|
21128237 |
2011 |
|
Cutaneous Melanoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Eight loci were identified in the main meta-analyses as being associated with a risk of CM (P < .05) of which four loci showed a genome-wide statistically significant association (P < 1 × 10(-7)), including 16q24.3 (MC1R), 20q11.22 (MYH7B/PIGU/ASIP), 11q14.3 (TYR), and 5p13.2 (SLC45A2).
|
21693730 |
2011 |
|
Cutaneous Melanoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
We explored the presence of germline alterations in CDK4 exon 2, CDKN2A and MC1R in a hospital-based study of 89 melanoma cases from 89 families with at least two members affected by cutaneous melanoma.
|
20539244 |
2010 |
|
Cutaneous Melanoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In this paper, we test a selected set of polymorphisms in pigmentation loci (ASIP (Agouti signalling protein, nonagouti homolog (mouse) gene), TYR (tyrosinase), TYRP1 (tyrosinase-related protein 1), MC1R, OCA2, IRF4 (interferon regulatory factor 4), SLC24A4 (solute carrier family 24, member 4), and SLC45A2 (solute carrier family 45, member 2)) for association with CMM risk in a large Australian population-based case-control study.
|
19710684 |
2010 |
|
Cutaneous Melanoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The association between MC1R genotype and BRAF mutation status in cutaneous melanoma: findings from an Australian population.
|
19571821 |
2010 |
|
Cutaneous Melanoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population.
|
18637131 |
2009 |
|
Cutaneous Melanoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Recently, germline variants of the melanocortin-1 receptor (MC1R) have been shown to be associated with an increased risk for BRAF mutant but not BRAF wild-type cutaneous melanoma.
|
19493000 |
2009 |
|
Cutaneous Melanoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We investigated MC1R and CDKN2A variation in relation to phenotype, clinical factors and CMM risk in the Swedish population.
|
19077144 |
2009 |
|
Cutaneous Melanoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
After adjusting for gender, Clark's level, phototype, eyes and hair colour, the risk for cutaneous malignant melanoma at any age was 2.07 times higher (95% CI: 1.21-3.52; p=0.008) among MC1R 84E carriers.
|
18657399 |
2008 |
|
Cutaneous Melanoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Interaction between p53 codon 72 polymorphism and melanocortin 1 receptor variants on suntan response and cutaneous melanoma risk.
|
18510673 |
2008 |
|
Cutaneous Melanoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A haplotype near ASIP, known to affect a similar spectrum of pigmentation traits as MC1R variants, conferred significant risk of CM (odds ratio (OR) = 1.45, P = 1.2 x 10(-9)) and BCC (OR = 1.33, P = 1.2 x 10(-6)).
|
18488027 |
2008 |
|
Cutaneous Melanoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline variation of the melanocortin 1 receptor gene (MC1R) is a risk factor for cutaneous melanoma.
|
18761657 |
2008 |
|
Cutaneous Melanoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Variations of the melanocortin-1 receptor and the glutathione-S transferase T1 and M1 genes in cutaneous malignant melanoma.
|
17072629 |
2007 |
|
Cutaneous Melanoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
p53 codon 72 Pro homozygosity increases the risk of cutaneous melanoma in individuals with dark skin complexion and among noncarriers of melanocortin 1 receptor red hair variants.
|
17223878 |
2007 |
|
Cutaneous Melanoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk southern European population.
|
16601669 |
2006 |
|
Cutaneous Melanoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We investigated the contribution of the MC1R genotype to the risk of sporadic cutaneous melanoma in a population in central Italy.
|
16567973 |
2006 |