| | Clinical genetic testing for familial melanoma in Italy: A cooperative studyAccepted 20 March 2009. published online 05 June 2009. BackgroundThe Italian Society of Human Genetics' (SIGU) recommendations on genetic counseling and testing for hereditary melanoma state that clinical genetic testing can be offered to Italian melanoma families with at least two affected members. ObjectiveIn the framework of a cooperative study, we sought to establish the frequency of cyclin-dependent kinase inhibitor 2A mutations in melanoma families that underwent clinical genetic counseling and testing in accordance with the SIGU recommendations at 9 centers in different Italian regions. MethodsCyclin-dependent kinase inhibitor 2A testing was conducted by direct sequencing and multiplex ligation-dependent probe amplification analysis in melanoma families with at least two affected members. ResultsA total of 33% (68/204) of the families harbored cyclin-dependent kinase inhibitor 2A mutations. In the 145 families with two affected members the mutation frequency was 25%. Three novel mutations, L94P, A86T, and c.407dupG, were identified among the cases and not in 200 controls. LimitationsWe were unable to perform separate analyses for individual centers, as in some cases the number of families was too small. ConclusionsThe availability of clinical genetic testing for melanoma to families with just two affected members in the same branch is justified in Italy in terms of the likelihood of identifying a mutation. Abbreviations used: AAD, age at first melanoma diagnosis, CDK4, cyclin-dependent kinase 4, CDKN2A, cyclin-dependent kinase inhibitor 2A, GenoMEL, International Melanoma Genetics Consortium, MPM, multiple primary melanomas, SIGU, Italian Society of Human Genetics a Department of Oncology, Biology, and Genetics, University of Genoa, Genoa, Italy b Medical Oncology and Innovative Therapy Unit, National Tumor Institute “Fondazione Pascale,” Naples, Italy c Division of Cancer Prevention and Genetics, Chemoprevention, European Institute of Oncology, Milan, Italy d Section of Medical Genetics, Department of Pathophysiology, University of Florence, Florence, Italy e Medical Oncology Department, National Cancer Institute, Bari, Italy f Dermatology, “Ospedale di Circolo,” Varese, Italy g Medical Genetics Unit, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Nazionale dei Tumori, Milan, Italy h Molecular Immunology and Diagnostic Oncology, Istituto Oncologico Veneto, IRCCS, Padua, Italy i Department of Genetics, Biology and Biochemistry, University of Turin, Turin, Italy j Division of Medical Oncology, C-Preventive Oncology, Centro di Riferimento Oncologico, National Cancer Institute, Aviano, Italy k Department of Medical Oncology A, National Institute for Cancer Research, Genoa, Italy l Department of Oncology, Division of Medical Oncology, S. Chiara Hospital, Pisa, Italy m Section of Oncology, Department of Oncology and Surgical Sciences, University of Padua, Padua, Italy n Melanoma and Muscle-Cutaneous Sarcomas Division, European Institute of Oncology, Milan, Italy o Anatomic Pathology Unit, University of Insubria, “Ospedale di Circolo,” Varese, Italy p Medical Genetics, Bologna University, “Policlinico S. Orsola Malpighi”, Bologna, Italy q Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah  Correspondence to: William Bruno, MD, PhD.
Supported by the International Melanoma Genetics Consortium 01872 Network of Excellence Grant to Dr Bianchi Scarra'; Dr Scaini is supported by a Fondazione Italiana per la Ricerca sul Cancro (FIRC) fellowship. Conflicts of interest: None declared. Reprints not available from the authors. PII: S0190-9622(09)00376-4 doi:10.1016/j.jaad.2009.03.039 © 2009 American Academy of Dermatology, Inc. Published by Elsevier Inc All rights reserved. | |
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