ArticleInternational journal of cancer2015
Inherited variation at MC1R and ASIP and association with melanoma-specific survival.
Article in International journal of cancer, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- Genetic imputation of transcriptome and proteome illuminates novel therapeutic targets of cutaneous melanoma.Briefings in bioinformatics · 2025Pooled it
- Blocking ASIP to Protect MC1R Signaling and Mitigate Melanoma Risk: An In Silico Study.Pharmaceuticals (Basel, Switzerland) · 2026Article
- Germline MC1R Variant Status and Efficacy of Immune Checkpoint Inhibitors in Patients With Advanced Melanoma.Pigment cell & melanoma research · 2025Article
- Genetic Landscape of Familial Melanoma.Genes · 2025Review
- Melanocortin-1 Receptor Expression as a Marker of Progression in Melanoma.JCO precision oncology · 2024Article
- Discovering genetic mechanisms underlying the co-occurrence of Parkinson's disease and non-motor traits.NPJ Parkinson's disease · 2024Article
- MC1R signaling through the cAMP-CREB/ATF-1 and ERK-NFκB pathways accelerates G1/S transition promoting breast cancer progression.NPJ precision oncology · 2023Article
- Coding and regulatory variants are associated with serum protein levels and disease.Nature communications · 2022Article
- Skin pigmentation and its control: From ultraviolet radiation to stem cells.Experimental dermatology · 2021Review
- Inherited MC1R variants in patients with melanoma are associated with better survival in women.The British journal of dermatology · 2020Article
- Cell cycle regulatory markers in melanoma: New strategies in diagnosis and treatment.Medical journal of the Islamic Republic of Iran · 2019Review
- Genetic analysis of melanocortin 1 receptor red hair color variants in a Russian population of Eastern Siberia.European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) · 2018Article
- Genetic polymorphisms may influence the vertical growth rate of melanoma.Journal of Cancer · 2018Article
- Associations of MC1R Genotype and Patient Phenotypes with BRAF and NRAS Mutations in Melanoma.The Journal of investigative dermatology · 2017Article
- The Expression Quantitative Trait Loci in Immune Pathways and their Effect on Cutaneous Melanoma Prognosis.Clinical cancer research : an official journal of the American Association for Cancer Research · 2016Article
- Association of Interferon Regulatory Factor-4 Polymorphism rs12203592 With Divergent Melanoma Pathways.Journal of the National Cancer Institute · 2016Article
- Inhibition of melanocortin 1 receptor slows melanoma growth, reduces tumor heterogeneity and increases survival.Oncotarget · 2016Article
- Functional Characterization of MC1R-TUBB3 Intergenic Splice Variants of the Human Melanocortin 1 Receptor.PloS one · 2015Article
Corrections and comments
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Authors and funding
19 authors at 12 institutions in 5 countries.
Funding
Abstract
Melanocortin-1 receptor (MC1R) is a marker of melanoma risk in populations of European ancestry. However, MC1R effects on survival are much less studied. We investigated associations between variation at MC1R and survival in an international, population-based series of single primary melanoma patients enrolled into the Genes, Environment, and Melanoma study. MC1R genotype data was available for 2,200 participants with a first incident primary melanoma diagnosis. We estimated the association of MC1R genotypes with melanoma-specific survival (i.e., death caused by melanoma) and overall survival using COX proportional hazards modeling, adjusting for established prognostic factors for melanoma. We also conducted stratified analyses by Breslow thickness, tumor site, phenotypic index, and age. In addition, we evaluated haplotypes involving polymorphisms near the Agouti signaling protein gene (ASIP) locus for their impacts on survival. Melanoma-specific survival was inversely associated with carriage of MC1R variants in the absence of consensus alleles compared to carriage of at least one consensus allele (hazard ratio (HR) = 0.60; 95% confidence interval (CI): 0.40, 0.90). MC1R results for overall survival were consistent with no association. We did not observe any statistical evidence of heterogeneity of effect estimates in stratified analyses. We observed increased hazard of melanoma-specific death among carriers of the risk haplotype TG near the ASIP locus (HR = 1.37; 95% CI: 0.91, 2.04) when compared to carriers of the most common GG haplotype. Similar results were noted for overall survival. Upon examining the ASIP TG/TG diplotype, we observed considerably increased hazard of melanoma-specific death (HR = 5.11; 95% CI: 1.88, 13.88) compared to carriers of the most common GG/GG diplotype. Our data suggest improved melanoma-specific survival among carriers of two inherited MC1R variants.
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