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MC1R variants in relation to naevi in melanoma cases and controls: a pooled analysis from the M-SKIP project.

作者信息

Stefanaki I, Stratigos A J, Kypreou K P, Evangelou E, Gandini S, Maisonneuve P, Polsky D, Lazovich D, Newton-Bishop J, Kanetsky P A, Puig S, Gruis N A, Ghiorzo P, Pellegrini C, De Nicolo A, Ribas G, Guida G, Garcia-Borron J C, Fargnoli M C, Nan H, Landi M T, Little J, Sera F, Raimondi S

机构信息

1st Department of Dermatology, Medical School, Andreas Sygros Hospital, National and Kapodistrian University of Athens, Athens, Greece.

Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, Greece.

出版信息

J Eur Acad Dermatol Venereol. 2021 Feb;35(2):e135-e138. doi: 10.1111/jdv.16869. Epub 2020 Sep 6.

DOI:10.1111/jdv.16869
PMID:32780924
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8327925/
Abstract
摘要

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Melanocortin 1 receptor (MC1R) variants in high melanoma risk patients are associated with specific dermoscopic ABCD features.高黑色素瘤风险患者的黑素皮质素 1 受体 (MC1R) 变体与特定的皮肤镜 ABCD 特征相关。
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High naevus count and MC1R red hair alleles contribute synergistically to increased melanoma risk.痣数量多和 MC1R 红发等位基因协同作用增加黑色素瘤风险。
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Invest Ophthalmol Vis Sci. 2025 Apr 1;66(4):62. doi: 10.1167/iovs.66.4.62.
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Common genetic variants associated with melanoma risk or naevus count in patients with wildtype MC1R melanoma.与黑素瘤风险或黑素瘤患者痣计数相关的常见遗传变异体，MC1R 黑素瘤野生型。
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The Interplay between Nevi and Melanoma Predisposition Unravels Nevi-Related and Nevi-Resistant Familial Melanoma.痣与黑色素瘤易感性之间的相互作用揭示了与痣相关的和抵抗痣的家族性黑色素瘤。
Genes (Basel). 2021 Jul 16;12(7):1077. doi: 10.3390/genes12071077.

本文引用的文献

1
High naevus count and MC1R red hair alleles contribute synergistically to increased melanoma risk.痣数量多和 MC1R 红发等位基因协同作用增加黑色素瘤风险。
Br J Dermatol. 2019 Nov;181(5):1009-1016. doi: 10.1111/bjd.17833. Epub 2019 Jul 17.
2
Melanocortin 1 receptor (MC1R) polymorphisms' influence on size and dermoscopic features of nevi.黑素皮质素 1 受体 (MC1R) 多态性对痣的大小和皮肤镜特征的影响。
Pigment Cell Melanoma Res. 2018 Jan;31(1):39-50. doi: 10.1111/pcmr.12646. Epub 2017 Oct 17.
3
Interactions between ultraviolet light and MC1R and OCA2 variants are determinants of childhood nevus and freckle phenotypes.紫外线与MC1R和OCA2基因变异之间的相互作用是儿童痣和雀斑表型的决定因素。
Cancer Epidemiol Biomarkers Prev. 2014 Dec;23(12):2829-39. doi: 10.1158/1055-9965.EPI-14-0633.
4
Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studies.黑素皮质素-1 受体、皮肤癌和表型特征（M-SKIP）项目：遗传流行病学研究结果汇总的研究设计和方法。
BMC Med Res Methodol. 2012 Aug 3;12:116. doi: 10.1186/1471-2288-12-116.
5
Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development.种系黑素皮质素 1 受体基因型与先天性黑素细胞痣皮肤表型严重程度相关：MC1R 在人类胎儿发育中的作用。
J Invest Dermatol. 2012 Aug;132(8):2026-32. doi: 10.1038/jid.2012.95. Epub 2012 May 10.
6
MC1R genotypes and risk of melanoma before age 40 years: a population-based case-control-family study.MC1R 基因型与 40 岁前黑色素瘤风险：基于人群的病例对照家系研究。
Int J Cancer. 2012 Aug 1;131(3):E269-81. doi: 10.1002/ijc.27357. Epub 2012 Jan 30.