title: Clinical genetic testing for familial melanoma in Italy: a cooperative study.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Oncology, Biology, and Genetics, University of Genoa, Genoa, Italy. william.bruno@unige.it
authors.forename: William
authors.initials: W
authors.lastname: Bruno
authors.forename: Paola
authors.initials: P
authors.lastname: Ghiorzo
authors.forename: Linda
authors.initials: L
authors.lastname: Battistuzzi
authors.forename: Paolo A
authors.initials: PA
authors.lastname: Ascierto
authors.forename: Monica
authors.initials: M
authors.lastname: Barile
authors.forename: Sara
authors.initials: S
authors.lastname: Gargiulo
authors.forename: Francesca
authors.initials: F
authors.lastname: Gensini
authors.forename: Sara
authors.initials: S
authors.lastname: Gliori
authors.forename: Michele
authors.initials: M
authors.lastname: Guida
authors.forename: Maurizio
authors.initials: M
authors.lastname: Lombardo
authors.forename: Siranoush
authors.initials: S
authors.lastname: Manoukian
authors.forename: Chiara
authors.initials: C
authors.lastname: Menin
authors.forename: Sabina
authors.initials: S
authors.lastname: Nasti
authors.forename: Paola
authors.initials: P
authors.lastname: Origone
authors.forename: Barbara
authors.initials: B
authors.lastname: Pasini
authors.forename: Lorenza
authors.initials: L
authors.lastname: Pastorino
authors.forename: Bernard
authors.initials: B
authors.lastname: Peissel
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Pizzichetta
authors.forename: Paola
authors.initials: P
authors.lastname: Queirolo
authors.forename: Monica
authors.initials: M
authors.lastname: Rodolfo
authors.forename: Antonella
authors.initials: A
authors.lastname: Romanini
authors.forename: Maria Chiara
authors.initials: MC
authors.lastname: Scaini
authors.forename: Alessandro
authors.initials: A
authors.lastname: Testori
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Tibiletti
authors.forename: Daniela
authors.initials: D
authors.lastname: Turchetti
authors.forename: Sancy A
authors.initials: SA
authors.lastname: Leachman
authors.forename: Giovanna
authors.initials: G
authors.lastname: Bianchi Scarrà
mesh_terms: D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics*; D005192:Family Health; D005787:Gene Frequency; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008545:Melanoma / Q000453:epidemiology / Q000235:genetics*; D009378:Neoplasms, Multiple Primary / Q000453:epidemiology / Q000235:genetics; D017354:Point Mutation; D012878:Skin Neoplasms / Q000453:epidemiology / Q000235:genetics*
chemical_list: D019941:Cyclin-Dependent Kinase Inhibitor p16