ArticleJournal of the National Cancer Institute2010
Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.
Article in Journal of the National Cancer Institute, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03130569 (Personalized Genomic Testing for Skin Cancer - Maximizing Utility and Reach), which is not on this map. Cited by 59 papers, 1 of them a synthesis that pooled it.
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Personalized Genomic Testing for Skin Cancer - Maximizing Utility and Reach
Who cites it
59 citing papers in PubMed, 1 synthesis or guideline pooled it, 116 citations in OpenAlex.
- Rare presentations of primary melanoma and special populations: a systematic review.American journal of clinical oncology · 2014Pooled it
- Concomitant DNA methylation and transcriptome signatures define epidermal responses to acute solar UV radiation.Scientific reports · 2020Trial
- Interest and Uptake of MC1R Testing for Melanoma Risk in a Diverse Primary Care Population: A Randomized Clinical Trial.JAMA dermatology · 2018Trial
- 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
- Disruption of CTCF binding by germline non-coding variants inmedRxiv : the preprint server for health sciences · 2026Article
- Characterization of ADGRG6 as a potential molecular oncotarget of pancreatic cancer.Cell death & disease · 2026Article
- Prospective changes in primary care patients' family communication after skin cancer genetic test offer.PEC innovation · 2025Article
- Paradigm of biomarkers in metastatic melanoma (Review).Oncology letters · 2025Review
- High- and intermediate-risk susceptibility variants in melanoma families from the Mediterranean area: A multicentre cohort from the MelaNostrum Consortium.Journal of the European Academy of Dermatology and Venereology : JEADV · 2023Article
- Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients.International journal of molecular sciences · 2023Article
- Multiple Primary Melanoma: A Five-Year Prospective Single-Center Follow-Up Study of Two MC1R R/R Genotype Carriers.Life (Basel, Switzerland) · 2023Article
- Phenotypic and Dermoscopic Patterns of Familial Melanocytic Lesions: A Pilot Study in a Third-Level Center.Cancers · 2023Article
- Melanoma-specific survival before and after inclusion in a familial melanoma dermatologic surveillance program in CDKN2A mutation carriers and non-carriers.Journal of the European Academy of Dermatology and Venereology : JEADV · 2023Article
- Implication of Melanocortin Receptor Genes in the Familial Comorbidity of Type 2 Diabetes and Depression.International journal of molecular sciences · 2022Article
- Dysplastic nevus syndrome and pancreatic cancer: A case report.Experimental and therapeutic medicine · 2022Article
- The Dark Side of Melanin Secretion in Cutaneous Melanoma Aggressiveness.Frontiers in oncology · 2022Review
- Review
- Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma.Journal of medical genetics · 2021Article
- 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
- Review
Corrections and comments
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Authors and funding
42 authors at 20 institutions in 10 countries.
Funding
Abstract
backgroundCarrying the cyclin-dependent kinase inhibitor 2A (CDKN2A) germline mutations is associated with a high risk for melanoma. Penetrance of CDKN2A mutations is modified by pigmentation characteristics, nevus phenotypes, and some variants of the melanocortin-1 receptor gene (MC1R), which is known to have a role in the pigmentation process. However, investigation of the associations of both MC1R variants and host phenotypes with melanoma risk has been limited.
methodsWe included 815 CDKN2A mutation carriers (473 affected, and 342 unaffected, with melanoma) from 186 families from 15 centers in Europe, North America, and Australia who participated in the Melanoma Genetics Consortium. In this family-based study, we assessed the associations of the four most frequent MC1R variants (V60L, V92M, R151C, and R160W) and the number of variants (1, ≥2 variants), alone or jointly with the host phenotypes (hair color, propensity to sunburn, and number of nevi), with melanoma risk in CDKN2A mutation carriers. These associations were estimated and tested using generalized estimating equations. All statistical tests were two-sided.
resultsCarrying any one of the four most frequent MC1R variants (V60L, V92M, R151C, R160W) in CDKN2A mutation carriers was associated with a statistically significantly increased risk for melanoma across all continents (1.24 × 10(-6) ≤ P ≤ .0007). A consistent pattern of increase in melanoma risk was also associated with increase in number of MC1R variants. The risk of melanoma associated with at least two MC1R variants was 2.6-fold higher than the risk associated with only one variant (odds ratio = 5.83 [95% confidence interval = 3.60 to 9.46] vs 2.25 [95% confidence interval = 1.44 to 3.52]; P(trend) = 1.86 × 10(-8)). The joint analysis of MC1R variants and host phenotypes showed statistically significant associations of melanoma risk, together with MC1R variants (.0001 ≤ P ≤ .04), hair color (.006 ≤ P ≤ .06), and number of nevi (6.9 × 10(-6) ≤ P ≤ .02).
conclusionResults show that MC1R variants, hair color, and number of nevi were jointly associated with melanoma risk in CDKN2A mutation carriers. This joint association may have important consequences for risk assessments in familial settings.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.