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Italian Journal of Dermatology and Venereology 2024 February;159(1):34-42

DOI: 10.23736/S2784-8671.23.07761-7

Copyright © 2023 EDIZIONI MINERVA MEDICA

language: English

Genetic testing for familial melanoma

Clare A. PRIMIERO ^{1, 2}, Ellie J. MAAS ¹, Courtney K. WALLINGFORD ¹, H. Peter SOYER ^{1, 3} ✉, Aideen M. MCINERNEY-LEO ¹

¹ Frazer Institute, Dermatology Research Centre, The University of Queensland, Brisbane, Australia; ² Department of Dermatology, Hospital Clinic and Fundació Clínic per la Recerca Biomèdica - August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain; ³ Department of Dermatology, Princess Alexandra Hospital, Brisbane, Australia

While the average lifetime risk of melanoma worldwide is approximately 3%, those with inherited high-penetrance mutations face an increased lifetime risk of 52-84%. In countries of low melanoma incidence, such as in Southern Europe, familial melanoma genetic testing may be warranted when there are two first degree relatives with a melanoma diagnosis. Testing criteria for high incidence countries such as USA, or with very-high incidence, such as Australia and New Zealand, would require a threshold of 3 to 4 affected family members. A mutation in the most common gene associated with familial melanoma, CDKN2A, is identified in approximately 10-40% of those meeting testing criteria. However, the use of multi-gene panels covering additional less common risk genes can significantly increase the diagnostic yield. Currently, genetic testing for familial melanoma is typically conducted by qualified genetic counsellors, however with increasing demand on testing services and high incidence rate in certain countries, a mainstream model should be considered. With appropriate training, dermatologists are well placed to identify high risk individuals and offer melanoma genetic test in dermatology clinics. Genetic testing should be given in conjunction with pre- and post-test consultation. Informed patient consent should cover possible results, the limitations and implications of testing including inconclusive results, and potential for genetic discrimination. Previous studies reporting on participant outcomes of genetic testing for familial melanoma have found significant improvements in both sun protective behavior and screening frequency in mutation carriers.

KEY WORDS: Melanoma; Genetic testing; Dermatology