ArticleBioMed research international2014
A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.
Article in BioMed research international, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 21 citations in OpenAlex.
- 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
- Article
- Plasticity of Drug-Naïve and Vemurafenib- or Trametinib-Resistant Melanoma Cells in Execution of Differentiation/Pigmentation Program.Journal of oncology · 2019Article
- A new POT1 germline mutation-expanding the spectrum of POT1-associated cancers.Familial cancer · 2017Article
- Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.PloS one · 2015Article
- Total body mapping in the follow-up of melanocytic lesions: recommendations of the Brazilian Society of Dermatology.Anais brasileiros de dermatologiaArticle
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14 authors at 4 institutions in 1 country.
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Abstract
backgroundThe MC1R gene implicated in melanogenesis and skin pigmentation is highly polymorphic. Several alleles are associated with red hair and fair skin phenotypes and contribute to melanoma risk.
objectiveThis work aims to assess the effect of different classes of MC1R variants, notably rare variants, on melanoma risk. Methods. MC1R coding region was sequenced in 1131 melanoma patients and 869 healthy controls. MC1R variants were classified as RHC (R) and non-RHC (r). Rare variants (frequency < 1%) were subdivided into two subgroups, predicted to be damaging (D) or not (nD).
resultsBoth R and r alleles were associated with melanoma (OR = 2.66 [2.20-3.23] and 1.51 [1.32-1.73]) and had similar population attributable risks (15.8% and 16.6%). We also identified 69 rare variants, of which 25 were novel. D variants were strongly associated with melanoma (OR = 2.38 [1.38-4.15]) and clustered in the same MC1R domains as R alleles (intracellular 2, transmembrane 2 and 7).
conclusionThis work confirms the role of R and r alleles in melanoma risk in the French population and proposes a novel class of rare D variants as important melanoma risk factors. These findings may improve the definition of high-risk subjects that could be targeted for melanoma prevention and screening.
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