Clinical genetic testing for familial melanoma in Italy

A cooperative study

William Bruno, Paola Ghiorzo, Linda Battistuzzi, Paolo A. Ascierto, Monica Barile, Sara Gargiulo, Francesca Gensini, Sara Gliori, Michele Guida, Maurizio Lombardo, Siranoush Manoukian, Chiara Menin, Sabina Nasti, Paola Origone, Barbara Pasini, Lorenza Pastorino, Bernard Peissel, Maria Antonietta Pizzichetta, Paola Queirolo, Monica Rodolfo & 7 others Antonella Romanini, Maria Chiara Scaini, Alessandro Testori, Maria Grazia Tibiletti, Daniela Turchetti, Sancy Leachman, Giovanna Bianchi Scarrà

Research output: Contribution to journalArticle

31 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)775-782
Number of pages8
JournalJournal of the American Academy of Dermatology
Volume61
Issue number5
DOIs
StatePublished - Nov 2009
Externally publishedYes

Fingerprint

Genetic Testing
Italy
Cyclin-Dependent Kinase Inhibitor p16
Melanoma
Mutation
Genetic Counseling
Multiplex Polymerase Chain Reaction
Medical Genetics
Mutation Rate
Cutaneous Malignant Melanoma

Keywords

  • cyclin-dependent kinase 4
  • cyclin-dependent kinase inhibitor 2A
  • familial melanoma
  • genetic testing

ASJC Scopus subject areas

  • Dermatology

Cite this

Bruno, W., Ghiorzo, P., Battistuzzi, L., Ascierto, P. A., Barile, M., Gargiulo, S., ... Bianchi Scarrà, G. (2009). Clinical genetic testing for familial melanoma in Italy: A cooperative study. Journal of the American Academy of Dermatology, 61(5), 775-782. https://doi.org/10.1016/j.jaad.2009.03.039

Clinical genetic testing for familial melanoma in Italy : A cooperative study. / Bruno, William; Ghiorzo, Paola; Battistuzzi, Linda; Ascierto, Paolo A.; Barile, Monica; Gargiulo, Sara; Gensini, Francesca; Gliori, Sara; Guida, Michele; Lombardo, Maurizio; Manoukian, Siranoush; Menin, Chiara; Nasti, Sabina; Origone, Paola; Pasini, Barbara; Pastorino, Lorenza; Peissel, Bernard; Pizzichetta, Maria Antonietta; Queirolo, Paola; Rodolfo, Monica; Romanini, Antonella; Scaini, Maria Chiara; Testori, Alessandro; Tibiletti, Maria Grazia; Turchetti, Daniela; Leachman, Sancy; Bianchi Scarrà, Giovanna.

In: Journal of the American Academy of Dermatology, Vol. 61, No. 5, 11.2009, p. 775-782.

Research output: Contribution to journalArticle

Bruno, W, Ghiorzo, P, Battistuzzi, L, Ascierto, PA, Barile, M, Gargiulo, S, Gensini, F, Gliori, S, Guida, M, Lombardo, M, Manoukian, S, Menin, C, Nasti, S, Origone, P, Pasini, B, Pastorino, L, Peissel, B, Pizzichetta, MA, Queirolo, P, Rodolfo, M, Romanini, A, Scaini, MC, Testori, A, Tibiletti, MG, Turchetti, D, Leachman, S & Bianchi Scarrà, G 2009, 'Clinical genetic testing for familial melanoma in Italy: A cooperative study', Journal of the American Academy of Dermatology, vol. 61, no. 5, pp. 775-782. https://doi.org/10.1016/j.jaad.2009.03.039
Bruno, William ; Ghiorzo, Paola ; Battistuzzi, Linda ; Ascierto, Paolo A. ; Barile, Monica ; Gargiulo, Sara ; Gensini, Francesca ; Gliori, Sara ; Guida, Michele ; Lombardo, Maurizio ; Manoukian, Siranoush ; Menin, Chiara ; Nasti, Sabina ; Origone, Paola ; Pasini, Barbara ; Pastorino, Lorenza ; Peissel, Bernard ; Pizzichetta, Maria Antonietta ; Queirolo, Paola ; Rodolfo, Monica ; Romanini, Antonella ; Scaini, Maria Chiara ; Testori, Alessandro ; Tibiletti, Maria Grazia ; Turchetti, Daniela ; Leachman, Sancy ; Bianchi Scarrà, Giovanna. / Clinical genetic testing for familial melanoma in Italy : A cooperative study. In: Journal of the American Academy of Dermatology. 2009 ; Vol. 61, No. 5. pp. 775-782.
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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

AU - Bianchi Scarrà, Giovanna

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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.

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