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Review
. 2015 May;2(2):165-169.
doi: 10.2217/mmt.15.7. Epub 2015 May 18.

Genetic epidemiology of malignant melanoma susceptibility

Dimitrios Papakostas  1 , Irene Stefanaki  1 , Alexander Stratigos  1
Affiliations
Review

Genetic epidemiology of malignant melanoma susceptibility

Dimitrios Papakostas et al. Melanoma Manag. 2015 May.

Abstract

Germline CDKN2A mutations were the first to be associated with familial melanoma. MC1R polymorphisms are associated, in conformity with epidemiological observations, with fair skin phenotype and a moderately increased risk for melanoma. The wider implementation of genome-wide association studies along with improved whole exome sequencing techniques made possible the identification of novel high-penetrant mutations (TERT, MITF, POT1, BAP1) beyond the established pathways of pigmentation and nevus count suggesting an additional role for pathways involved in cell cycle control and DNA repair. A multitude of common polymorphisms in the general population have been associated through candidate gene studies with a low risk for melanoma, supporting the hypothesis of a complex disease.

Keywords: CDKN2A; GWAS; MCR1; MITF; POT1; melanoma; polymorphism; susceptibility.

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Conflict of interest statement

Financial & competing interests disclosure The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties. No writing assistance was utilized in the production of this manuscript.

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