Genetic testing in familial melanoma

Maria Concetta Fargnoli, MD, form the University of L’Aquila, L’Aquila, Italy discusses genetic screening in melanoma at the 2016 World Congress on Cancers of the Skin (WCCS) and the Congress of the European Association of Dermato-Oncology (EADO) in Vienna, Austria. Dr Fargnoli begins by explaining that genetic testing and screening in melanoma primarily focuses on melanoma patients who have a hereditary predisposition, such as familial melanoma and multiple primary melanoma patients. In the past only the high penetrance susceptibility genes were screened for such as CDKN2A and CDK4 both of which encode for two negative cell cycle regulators. Now however, other intermediate penetrance genes are considered important and should also be screened for, such as MC1R and MITF. Dr Fargnoli, discusses how a patient with familial melanoma is treated, is dependent on the international guidelines and the melanoma incidence in their country of residence. Dr Fargnoli highlights the importance of screening for all known melanoma susceptibility genes as this will help in the management and the prevention of melanoma. This monitoring may also be useful in the surveillance of other cancers as well as melanoma.

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