Observational studyThe British journal of dermatology2013
Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population.
Observational study in The British journal of dermatology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
13 citing papers in PubMed, 29 citations in OpenAlex.
- Interest and Uptake of MC1R Testing for Melanoma Risk in a Diverse Primary Care Population: A Randomized Clinical Trial.JAMA dermatology · 2018Trial
- MC1R variants in four Chinese children with red hair and hypopigmentation.Journal of human genetics · 2026Article
- Age-specific melanoma risk associated with melanocytic nevi: a pooled analysis from the M-SKIP project.Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG · 2026Article
- Assessing MC1R Variants in Lentigo Maligna Melanoma within the Utah Population.Cancer research communications · 2025Article
- Phenotypic and Dermoscopic Patterns of Familial Melanocytic Lesions: A Pilot Study in a Third-Level Center.Cancers · 2023Article
- Familial Melanoma and Susceptibility Genes: A Review of the Most Common Clinical and Dermoscopic Phenotypic Aspect, Associated Malignancies and Practical Tips for Management.Journal of clinical medicine · 2021Review
- MC1R variants and cutaneous melanoma risk according to histological type, body site, and Breslow thickness: a pooled analysis from the M-SKIP project.Melanoma research · 2020Article
- A Case of Four Synchronous Cutaneous Melanomas: Melanocortin 1 Receptor Polymorphisms and Excessive Sun Exposure.Acta dermato-venereologica · 2020Article
- 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
- CDKN2A and MC1R variants found in Cypriot patients diagnosed with cutaneous melanoma.Journal of genetics · 2017Article
- Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Risk factors for keratinocyte skin cancer in patients diagnosed with melanoma, a large retrospective study.European journal of cancer (Oxford, England : 1990) · 2016Article
- Update in genetic susceptibility in melanoma.Annals of translational medicine · 2015Review
Corrections and comments
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Authors and funding
9 authors at 6 institutions in 2 countries.
Funding
Abstract
backgroundCutaneous melanoma tumour is classified into clinicohistopathological subtypes that may be associated with different genetic and host factors. Variation in the MC1R gene is one of the main factors of risk variation in sporadic melanoma. The relationship between MC1R variants and the risk of developing a specific subtype of melanoma has not been previously explored.
objectivesTo analyse whether certain MC1R variants are associated with particular melanoma subtypes with specific clinicohistopathological features.
methodsAn association study was performed between MC1R gene variants and clinicopathological subtypes of primary melanoma derived from 1679 patients.
resultsWe detected 53 MC1R variants (11 synonymous and 42 nonsynonymous). Recurrent nonsynonymous variants were p.V60L (30·0%), p.V92M (11·7%), p.D294H (9·4%), p.R151C (8·8%), p.R160W (6·2%), p.R163Q (4·2%) p.R142H (3·3%), p.I155T (3·8%), p.V122M (1·5%) and p.D84E (1·0%). Melanoma subtypes showed differences in the total number of MC1R variants (P = 0·028) and the number of red hair colour variants (P = 0·035). Furthermore, an association between p.R163Q and lentigo maligna melanoma was detected under a dominant model of heritance (odds ratio 2·16, 95% confidence interval 1·07-4·37; P = 0·044). No association was found between p.R163Q and Fitzpatrick skin phototype, eye colour or skin colour, indicating that the association was independent of the role of MC1R in pigmentation. No association was observed between MC1R polymorphisms and other melanoma subtypes.
conclusionsOur findings suggest that certain MC1R variants could increase melanoma risk due to their impact on pathways other than pigmentation, and may therefore be linked to specific melanoma subtypes.
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