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Melanoma risk and melanocyte biology

Melanoma risk and melanocyte biology

Title: Melanoma risk and melanocyte biology
Author: Bertrand, Juliette U.
Steingrimsson, Eirikur   orcid.org/0000-0001-5826-7486
Jouenne, Fanélie
Bressac-De Paillerets, Brigitte
Larue, Lionel   orcid.org/0000-0002-2010-6107
Date: 2020
Language: English
Scope: 12
Department: Faculty of Medicine
Series: Acta Dermato-Venereologica; 100(100-year theme Skin malignancies)
ISSN: 0001-5555
DOI: https://doi.org/10.2340/00015555-3494
Subject: Embryonic development; Germline mutation; Inherited melanoma; Melanocyte stem cells; Dermatology
URI: https://hdl.handle.net/20.500.11815/3429

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Bertrand , J U , Steingrimsson , E , Jouenne , F , Bressac-De Paillerets , B & Larue , L 2020 , ' Melanoma risk and melanocyte biology ' , Acta Dermato-Venereologica , vol. 100 , no. 100-year theme Skin malignancies , adv00139 , pp. 272-283 . https://doi.org/10.2340/00015555-3494


Cutaneous melanoma arises from melanocytes following genetic, epigenetic and allogenetic (i.e. other than epi/genetic) modifications. An estimated 10% of cutaneous melanoma cases are due to inherited variants or de novo mutations in approximately 20 genes, found using linkage, next-generation sequencing and association studies. Based on these studies, 3 classes of predisposing melanoma genes have been defined based on the frequency of the variants in the general population and lifetime risk of developing a melanoma: (i) ultra-rare variants with a high risk, (ii) rare with a moderate risk, and (iii) frequent variants with a low risk. Most of the proteins encoded by these genes have been shown to be involved in melanoma initiation, including proliferation and senescence bypass. This paper reviews the role(s) of these genes in the transformation of melanocytes into melanoma. It also describes their function in the establishment and renewal of melanocytes and the biology of pigment cells, if known.


Funding text This work was supported by the Ligue Contre le Cancer, INCa, ITMO Cancer, Fondation ARC (PGA), and is under the program “Investissements d’Avenir” launched by the French Government and implemented by ANR Labex CelTisPhyBio (ANR-11-LA-BX-0038 and ANR-10-IDEX-0001-02 PSL). This work was also supported by a grant from the Icelandic Research Fund (grant number 184861-051 to ES). BBdP is nationwide coordinator of melanoma oncogenetics for INCA. Publisher Copyright: © 2020 Acta Dermato-Venereologica.

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