Content » Vol 100, 100-year theme: Skin malignancies (June)


Melanoma Risk and Melanocyte Biology

Julie U. Bertrand, Eirikur Steingrimsson, Fanélie Jouenne, Brigitte Bressac-de Paillerets, Lionel Larue
DOI: 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.


Inherited variants or de novo mutations in approximately 20 genes have been shown to contribute to approximately 10% of cases of cutaneous melanoma. This paper evaluates the function(s) of these proteins in the establishment of the lineage during embryogenesis, melanogenesis, renewal and, of course, during melanomagenesis.

Supplementary content


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