Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF
C. Mangas, M. Potrony, C. Mainetti, E. Bianchi, P. Carrozza Merlani, A. Mancarella Eberhardt, E. Maspoli-Postizzi, G. Marazza, A. Marcollo-Pini, F. Pelloni, C. Sessa, B. Simona, J.A. Puig-Butillé, C. Badenas and S. Puig
Version of Record online: 31 AUG 2016 | DOI: 10.1111/bjd.14897
What's already known about this topic?
- CDKN2A as a high-penetrance risk factor and MITF and MCR1, with low-to-intermediate penetrance, are the most important genes involved in melanoma susceptibility.
- Mutation detection rates in these genes are highly variable across regions.
- CDKN2A mutation detection increases with the number of melanomas, young age at diagnosis and concomitant pancreatic cancer in the family.
What does this study add?
- The genetic predisposition to melanoma in southern Switzerland is analysed for the first time.
- A CDKN2A high-risk mutation is detected in almost 10% of pedigrees and MITF p.E318K mutation in 7%.
- It is difficult to establish a rule for recommending genetic testing based on only the number of melanomas in the family or the individual.