title: Familial melanoma and multiple primary melanoma.
abstract: Cutaneous melanoma (CM) has the highest mortality rates among the most common skin cancers, and its incidence is rising worldwide, thus representing a significant health care burden. CM is considered the most lethal skin cancer if not detected and treated during its early stages. Susceptibility to CM is also associated with an increased presence of atypical nevi and the occurrence of multiple primary melanoma. Personal history of CM increases the risk of developing a second melanoma by 5-8%. A family history of melanoma has also been strongly associated with an increased risk of melanoma. Approximately 5-10% of melanoma cases occur in a familial context. The main genes involved are CDKN2A, CDK4 and MC1R. The recent technological advances have allowed the identification of new genes involved in melanoma susceptibility: breast cancer 1 (BRCA1), BRCA1-associated protein 1 (BAP1), and telomerase reverse transcriptase (TERT).Tests on these genes allow to identify a larger number of high-risk individuals with a potential of developing familial melanoma and primary multiple melanomas. These patients also have a high risk of developing internal organ malignancies, especially pancreatic cancer. It is essential that these individuals receive adequate management along with frequent dermatological examinations, dermoscopic evaluation, genetic counselling and instrumental examinations aimed at the early identification of other tumors associated with CM.
authors.affiliation: Oncological Dermatology, San Gallicano Institute for Research and Care, Rome, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: DE Simone
authors.affiliation: Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo Forlanini Hospital, Rome, Italy.
authors.forename: Michele
authors.initials: M
authors.lastname: Valiante
authors.affiliation: Department of Oncology and Dermatology, San Gallicano Institute for Research and Care, Rome, Italy - vitaliano.silipo@fo.gov.it.
authors.forename: Vitaliano
authors.initials: V
authors.lastname: Silipo
mesh_terms: D006801:Humans; D008545:Melanoma / Q000235:genetics*; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics*