|
Oculocutaneous albinism type 2
|
0.630 |
GeneticVariation
|
disease |
CLINVAR |
Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population.
|
26197705 |
2015 |
|
Oculocutaneous albinism type 2
|
0.630 |
GeneticVariation
|
disease |
BEFREE |
We genetically screened for mutations in the OCA2 and MC1R genes as their products have previously been shown to be associated with red hair/fair skin and OCA2.
|
20019752 |
2010 |
|
Oculocutaneous albinism type 2
|
0.630 |
Biomarker
|
disease |
BEFREE |
We have previously described the role of red hair (melanocortin-1 receptor, MC1R) and blue eye (oculocutaneous albinism type II, OCA2) gene polymorphisms in modulating the risk of cutaneous malignant melanoma (CMM) in a highly sun-exposed population of European descent.
|
19710684 |
2010 |
|
Oculocutaneous albinism type 2
|
0.630 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the P gene were responsible for classic phenotype of oculocutaneous albinism type 2 (OCA2) in all eight, and mutations in the MC1R gene were responsible for the red (rather than yellow/blond) hair in the six of eight who continued to have red hair after birth.
|
12876664 |
2003 |
|
Oculocutaneous albinism type 2
|
0.630 |
GermlineModifyingMutation
|
disease |
ORPHANET |
Mutations in the P gene were responsible for classic phenotype of oculocutaneous albinism type 2 (OCA2) in all eight, and mutations in the MC1R gene were responsible for the red (rather than yellow/blond) hair in the six of eight who continued to have red hair after birth.
|
12876664 |
2003 |
|
Oculocutaneous albinism type 2
|
0.630 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients.
|
19338054 |
2009 |
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
MC1R: three novel variants identified in a malignant melanoma association study in the Spanish population.
|
17434924 |
2007 |
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
|
0.600 |
SusceptibilityMutation
|
disease |
CLINVAR |
|
|
|
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Homozygous loss of function of the melanocortin 1 receptor (MC1R) is associated with a pheomelanotic pigment phenotype and increased melanoma risk.
|
31398282 |
2020 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
We examined known sex-related prognosis factors as they relate to features of melanoma and evaluated the sex-specific role of MC1R in overall and melanoma-specific survival.
|
31016712 |
2020 |
|
melanoma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Here we show that methylation of a CpG island (CGI) within the MC1R gene can control expression of MC1R in melanoma.
|
30267482 |
2019 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Patients who live in areas of high ultraviolet radiation, and have many large naevi and the red hair colour phenotype, particularly those with the MC1R R/R genotype, have a high risk of melanoma above the threshold recommended for screening in other cancers.
|
30820946 |
2019 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Some genetic melanocortin-1 receptor (MC1R) variants responsible for human red hair color (RHC-variants) are consequently associated with increased melanoma risk.
|
30787281 |
2019 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Individuals having melanoma in a visibly UV-damaged site were more likely to carry MC1R rs75570604 (odds ratio [OR] 2.5), 9q31.2 rs10816595 (OR 2.5), and MTAP rs869329 (OR 1.4); these same alleles were more common in MPM patients diagnosed ≤40 years.
|
31794051 |
2019 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Germline variants in the melanocortin-1 receptor (MC1R) gene are common in the population and confer moderate risk for melanoma and basal cell cancers across skin types.
|
31437847 |
2019 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
As MC1R has already been suggested to affect melanogenesis and increase risk of developing melanoma, it constitutes one of the best models to understand how natural selection acts on pigmentation.
|
28486572 |
2019 |
|
melanoma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The role of microphthalmia-associated transcription factor (MITF) in the upregulation of MC1R was also examined in A2058 and MEWO cells.
|
31318566 |
2019 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Radiolabeled α-melanocyte-stimulating hormone (α-MSH) derivatives have a high potential for diagnosis and treatment of melanoma, because of high specificity and binding affinity to the melanocortin-1 receptor (MC1R).
|
30912594 |
2019 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The Melanocortin 1 Receptor (<i>MC1R</i>) contributes to pigmentation, an important risk factor for developing melanoma.
|
31488411 |
2019 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
MC1R R/R genotype was much more frequent in our amelanotic/hypomelanotic melanoma population (31.1% vs. 11%; P < 0.001; OR 26.4 vs. 5.9; control 1.0).
|
30680790 |
2019 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
The absolute lifetime risk to age 75 of getting melanoma in Australia is 23.3% for men and 19.3% for women who have 20+ moles and MC1R R/R genotype, compared to just 0.8% for men and 0.7% for women with 0-4 moles and MC1R wildtype/wildtype genotype.
|
31674665 |
2019 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Coinheritance of germline mutation in cyclin-dependent kinase inhibitor 2A (CDKN2A) and loss-of-function (LOF) melanocortin 1 receptor (MC1R) variants is clinically associated with exaggerated risk for melanoma.
|
30117292 |
2019 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
<sup>64</sup>Cu- and <sup>68</sup>Ga-labeled alpha-melanocyte-stimulating hormone (α-MSH) analogs targeting the melanocortin-1 receptor are promising positron emission tomography (PET) tracers for detecting melanoma, and the use of <sup>18</sup>F-labeling will further contribute to the detectability and availability.
|
31297699 |
2019 |