Melanoma Genetics
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: closed (29 February 2020) | Viewed by 9149
Special Issue Editor
Special Issue Information
Dear Colleagues,
Cutaneous melanoma is one of the most common cancers in fair-skinned populations. At the population level, risk of developing the disease is largely attributed to solar ultraviolet radiation exposure. Populations with pale skin, or living at low latitudes, have a higher incidence of melanoma than those with dark skin or who live at high latitudes. Natural variation in skin pigmentation is genetically controlled; thus, genes regulating pigment (melanin) production were among the first risk loci for melanoma identified through genome-wide association studies (GWAS). Likewise, genes influencing melanocytic naevus development, a well-characterized phenotypic risk factor for melanoma, were also found through GWAS to be strongly associated with melanoma susceptibility. Dozens of melanoma risk loci have now been identified through GWAS, and while many of these have pleiotropic effects on pigmentation or naevus development, others mediate their effects through such pathways as cell cycle control and telomere maintenance. Indeed, rare high penetrance mutations in genes related to these, and various other, cellular functions have been shown to cause ‘familial’ melanoma, or underlie more general cancer predisposition syndromes. Multiple melanoma susceptibility loci collectively contribute to an individual’s risk of melanoma, and polygenic risk scores can be estimated to predict lifetime probabilities of developing the disease. How much additional information such scores provide on top of routine phenotypic risk factor assessment is still to be determined. This is a critical point in relation to the clinical utility of implementing population-based genetic screening programmes for melanoma risk.
For this Special Issue, we solicit review articles, primary research papers, and methodological reports addressing all aspects of melanoma genetics, including, though not limited to: family and twin studies, population-based studies, associated phenotypic risk features, polygenic risk assessment, and cancer predisposition syndromes. We look forward to your contributions.
Prof. Nicholas K. Hayward
Guest Editor
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Keywords
- familial
- genetics
- genome-wide association study
- high pentrance
- low penetrance
- melanoma
- naevi
- phenotype
- pigmentation
- polygenic risk score
- population-based
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