Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE Homozygous loss of function of the melanocortin 1 receptor (MC1R) is associated with a pheomelanotic pigment phenotype and increased melanoma risk. 31398282

2020

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker 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

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression BEFREE Here we show that methylation of a CpG island (CGI) within the MC1R gene can control expression of MC1R in melanoma. 30267482

2019

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation 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

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation 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

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation 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

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation 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

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation 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

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression BEFREE The role of microphthalmia-associated transcription factor (MITF) in the upregulation of MC1R was also examined in A2058 and MEWO cells. 31318566

2019

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker 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

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE The Melanocortin 1 Receptor (<i>MC1R</i>) contributes to pigmentation, an important risk factor for developing melanoma. 31488411

2019

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation 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

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker 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

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation 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

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker 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

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker BEFREE Although a 3-arm DOTA construct, which has three carboxylic acids, h has been applied for conjugation to many peptides, we investigated if a 4-arm DOTA construct conjugated to peptides improves chemical properties for melanoma imaging of the melanocortin 1 receptor compared to 3-arm DOTA-conjugated peptides. 30901323

2019

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE Most (43/46, 93%) patients had variants in MC1R and 11/46 (24%) had CDKN2A pathogenic variants, but only male sex and having two variants in MC1R correlated with increasing number of melanomas. 31567591

2019

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker BEFREE In addition to the well-known melanoma susceptibility genes confirmed in the meta-analysis (MC1R, CDKN2A, TERT, OCA2, and ARNT/SETDB1), we also identified additional novel genes using FUMA to map SNPs to genes. 31630191

2019

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker BEFREE The favorable melanoma targeting and imaging properties highlighted the potential of <sup>203</sup>Pb-DOTA-GGNle-CycMSH<sub>hex</sub> as a MC1R-targeting melanoma imaging probe and warranted the evaluation of <sup>212</sup>Pb-DOTA-GGNle-CycMSH<sub>hex</sub> for melanoma therapy in future studies. 30763112

2019

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression BEFREE Considering that melanocortin 1 receptor is crucial for melanocyte proliferation, regulation and differentiation do the naevi of these darker-skinned individuals have specific features that help identify them as carrying one of these melanocortin 1 receptor variants and do melanomas that develop in dark-skinned melanocortin 1 receptor variant carriers have particular characteristics? 30585306

2019

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker BEFREE The melanocortin-1 receptor reversely regulates the melanin synthesis and migration of melanoma cells via dimerization-induced conformational changes. 31472961

2019

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker BEFREE There is now ample evidence that suggests that the melanocortin 1 receptor (MC1R) is a major melanoma risk factor. 30798934

2019

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE MC1R variants contribute differently to melanoma risk in males and females. 29898205

2018

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker BEFREE αMSH peptide sequences, evaluated for conjugation to the PEG-Cy5-C' dot nanoparticles, bound to MC1-R with high affinity and targeted melanoma in syngenetic and xenografted melanoma mouse models. 29058865

2018

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE Estimates of second-level parameters gave information about the relative importance of MC1R effects on different pathways, and odds ratio estimates changed depending on prior models (e.g., the change ranged from -21% to 7% for melanoma risk assessment). 29968341

2018