Table 1.

Overview of High- and Intermediate-Penetrance Genes Involved in Melanoma Susceptibility

Gene Penetrance	Gene	Encoded Protein	Role	Mutation Prevalence	References
High-penetrance	CDKN2A	p16INK4a	Cell cycle regulator	~20%–40% of families	10–13
		p14ARF	Cell cycle regulator	~1% of families	9,14,15
	CDK4	CDK4	Cell cycle regulator	17 families	16,17
	TERT	Catalytic subunit of telomerase	Telomere elongation	2 families	18,19
	POT1	POT1	Telomere maintenance	14 families	20–22
Intermediate-penetrance	MC1R	MC1R	Melanin synthesis and melanocyte proliferation	NA	23,24
	MITF	MITF	Melanocyte development and differentiation	NA	25,26

CDK4 = cyclin-dependent kinase 4; CDKN2A = cyclin-dependent kinase 2A; MC1R = melanocortin 1 receptor; MITF = microphthalmia- associated transcription factor; NA = not applicable; POT1 = protection of telomeres 1; TERT = telomerase reverse transcriptase.