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

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

卷:61

Article

Bruno, William¹  Ghiorzo, Paola¹  Battistuzzi, Linda¹  Ascierto, Paolo A.²  Barile, Monica³  Gargiulo, Sara¹  Gensini, Francesca⁴  Gliori, Sara¹  Guida, Michele⁵  Lombardo, Maurizio⁶  Manoukian, Siranoush⁷  Menin, Chiara⁸  Nasti, Sabina¹  Origone, Paola¹  Pasini, Barbara⁹  Pastorino, Lorenza¹  Peissel, Bernard⁷  Pizzichetta, Maria Antonietta¹⁰  Queirolo, Paola¹¹  Rodolfo, Monica⁷  Romanini, Antonella¹²  Scaini, Maria Chiara¹³  Testori, Alessandro¹⁴  Tibiletti, Maria Grazia¹⁵  Turchetti, Daniela¹⁶  Leachman, Sancy A.¹⁷  Scarra, Giovanna Bianchi¹ 

[1] Univ Genoa, Dept Oncol Biol & Genet, I-16126 Genoa, Italy

[2] Natl Tumor Inst Fdn Pascale, Med Oncol & Innovat Therapy Unit, Naples, Italy

[3] European Inst Oncol, Div Canc Prevent & Genet, Milan, Italy

[4] Univ Florence, Dept Pathophysiol, Med Genet Sect, I-50121 Florence, Italy

[5] Natl Canc Inst, Dept Med Oncol, Bari, Italy

[6] Osped Circolo Varese, Varese, Italy

[7] Ist Nazl Tumori, Fdn Ist Ricovero & Cura Carattere Sci, Med Genet Unit, I-20133 Milan, Italy

[8] IRCCS, Ist Oncol Veneto, Padua, Italy

[9] Univ Turin, Dept Genet Biol & Biochem, I-10124 Turin, Italy

[10] Natl Canc Inst, Ctr Riferimento Oncol, Div Med Oncol, Aviano, Italy

[11] Natl Inst Canc Res, Dept Med Oncol A, Genoa, Italy

[12] Santa Chiara Hosp, Div Med Oncol, Dept Oncol, Pisa, Italy

[13] Univ Padua, Dept Oncol & Surg Sci, Sect Oncol, I-35100 Padua, Italy

[14] European Inst Oncol, Melanoma & Muscle Cutaneous Sarcomas Div, Milan, Italy

[15] Univ Insubria, Osped Circolo, Anat Pathol Unit, Varese, Italy

[16] Univ Bologna, Policlin S Orsola Malpighi, I-40126 Bologna, Italy

[17] Univ Utah, Huntsman Canc Inst, Salt Lake City, UT USA

关键词: cyclin-dependent kinase 4;    cyclin-dependent kinase inhibitor 2A;    familial melanoma;    genetic testing;   

DOI  :  10.1016/j.jaad.2009.03.039

来源: Elsevier

【 摘 要 】

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 2,4 mutations in melanoma families that underwent clinical genetic Counseling and testing in accordance with die SIGU recommendations at 9 centers in different Italian regions. Methods: 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. (J Am Acad Dermatol 20001:775-82.)

【 授权许可】

Free