title: Hereditary melanoma: Update on syndromes and management: Genetics of familial atypical multiple mole melanoma syndrome.
abstract: Malignant melanoma is considered the most lethal skin cancer if it is not detected and treated during its early stages. About 10% of melanoma patients report a family history of melanoma; however, individuals with features of true hereditary melanoma (ie, unilateral lineage, multigenerational, multiple primary lesions, and early onset of disease) are in fact quite rare. Although many new loci have been implicated in hereditary melanoma, CDKN2A mutations remain the most common. Familial melanoma in the presence of multiple atypical nevi should raise suspicion for a germline CDKN2A mutation. These patients have a high risk of developing multiple primary melanomas and internal organ malignancies, especially pancreatic cancer; therefore, a multidisciplinary approach is necessary in many cases. The value of dermoscopic examination and total body photography performed at regular intervals has been suggested by a number of studies, and should therefore be considered for these patients and their first-degree relatives. In addition, genetic counseling with the possibility of testing can be a valuable adjunct for familial melanoma patients. This must be performed with care, however, and only by qualified individuals trained in cancer risk analysis.
authors.affiliation: 1st Department of Dermatology, University Clinic, "Andreas Sygros" Hospital, Athens, Greece.
authors.forename: Efthymia
authors.initials: E
authors.lastname: Soura
authors.affiliation: Department of Dermatology, Wellman Center for Photomedicine, Massachusetts General Hospital, Boston, Massachusetts; Tufts University School of Medicine, Boston, Massachusetts.
authors.forename: Philip J
authors.initials: PJ
authors.lastname: Eliades
authors.affiliation: Melanoma Genetics Program/MGH Cancer Center, Massachusetts General Hospital, Boston, Massachusetts.
authors.forename: Kristen
authors.initials: K
authors.lastname: Shannon
authors.affiliation: 1st Department of Dermatology, University Clinic, "Andreas Sygros" Hospital, Athens, Greece.
authors.forename: Alexander J
authors.initials: AJ
authors.lastname: Stratigos
authors.affiliation: Department of Dermatology, Wellman Center for Photomedicine, Massachusetts General Hospital, Boston, Massachusetts; Melanoma Genetics Program/MGH Cancer Center, Massachusetts General Hospital, Boston, Massachusetts. Electronic address: htsao@partners.org.
authors.forename: Hensin
authors.initials: H
authors.lastname: Tsao
mesh_terms: D000465:Algorithms; D005817:Genetic Counseling; D006801:Humans; D008545:Melanoma / Q000175:diagnosis / Q000235:genetics*; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics*; D017410:Practice Guidelines as Topic; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics*
keywords: CDK4; CDKN2A; FAMMM; familial melanoma syndromes; melanoma genetics; mixed cancer syndromes