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Journal of the American Academy of Dermatology
Volume 61, n° 5
pages 775-782 (novembre 2009)
Doi : 10.1016/j.jaad.2009.03.039
accepted : 20 Mars 2009
Original Articles

Clinical genetic testing for familial melanoma in Italy: A cooperative study

William Bruno, MD, PhD a, , Paola Ghiorzo, PhD a, , Linda Battistuzzi, MS a, , Paolo A. Ascierto, MD b, Monica Barile, MD c, Sara Gargiulo, PhD a, Francesca Gensini, MD d, Sara Gliori, MD a, Michele Guida, MD e, Maurizio Lombardo, MD f, Siranoush Manoukian, MD g, Chiara Menin, PhD h, Sabina Nasti, PhD a, Paola Origone, PhD a, Barbara Pasini, MD i, Lorenza Pastorino, PhD a, Bernard Peissel, MD g, Maria Antonietta Pizzichetta, MD j, Paola Queirolo, MD k, Monica Rodolfo, PhD g, Antonella Romanini, MD l, Maria Chiara Scaini, PhD m, Alessandro Testori, MD n, Maria Grazia Tibiletti, MD o, Daniela Turchetti, MD p, Sancy A. Leachman, MD q, Giovanna Bianchi Scarrà, PhD a

IMI, the Italian Melanoma Intergroup

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.

The 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.


In 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.


Cyclin-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.


A 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.


We were unable to perform separate analyses for individual centers, as in some cases the number of families was too small.


The 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.

The full text of this article is available in PDF format.

Key words : cyclin-dependent kinase 4 , cyclin-dependent kinase inhibitor 2A , familial melanoma, genetic testing

Abbreviations used : AAD, CDK4 , CDKN2A , GenoMEL, MPM, SIGU

 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.

  These authors contributed equally to this study.

© 2009  American Academy of Dermatology, Inc.@@#104156@@
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