TY - JOUR
T1 - Clinical genetic testing for familial melanoma in Italy
T2 - A cooperative study
AU - Bruno, William
AU - Ghiorzo, Paola
AU - Battistuzzi, Linda
AU - Ascierto, Paolo A.
AU - Barile, Monica
AU - Gargiulo, Sara
AU - Gensini, Francesca
AU - Gliori, Sara
AU - Guida, Michele
AU - Lombardo, Maurizio
AU - Manoukian, Siranoush
AU - Menin, Chiara
AU - Nasti, Sabina
AU - Origone, Paola
AU - Pasini, Barbara
AU - Pastorino, Lorenza
AU - Peissel, Bernard
AU - Pizzichetta, Maria Antonietta
AU - Queirolo, Paola
AU - Rodolfo, Monica
AU - Romanini, Antonella
AU - Scaini, Maria Chiara
AU - Testori, Alessandro
AU - Tibiletti, Maria Grazia
AU - Turchetti, Daniela
AU - Leachman, Sancy A.
AU - Bianchi Scarrà, Giovanna
N1 - Funding Information:
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.
PY - 2009/11
Y1 - 2009/11
N2 - Background: 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. Objective: 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. Methods: 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. Results: 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. Limitations: We were unable to perform separate analyses for individual centers, as in some cases the number of families was too small. Conclusions: 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.
AB - Background: 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. Objective: 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. Methods: 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. Results: 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. Limitations: We were unable to perform separate analyses for individual centers, as in some cases the number of families was too small. Conclusions: 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.
KW - cyclin-dependent kinase 4
KW - cyclin-dependent kinase inhibitor 2A
KW - familial melanoma
KW - genetic testing
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U2 - 10.1016/j.jaad.2009.03.039
DO - 10.1016/j.jaad.2009.03.039
M3 - Article
C2 - 19500876
AN - SCOPUS:70349792450
SN - 0190-9622
VL - 61
SP - 775
EP - 782
JO - Journal of the American Academy of Dermatology
JF - Journal of the American Academy of Dermatology
IS - 5
ER -