Clinical genetic testing for familial melanoma in Italy: a cooperative study.
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.
Bruno
William
W
Department of Oncology, Biology, and Genetics, University of Genoa, Genoa, Italy. william.bruno@unige.it
Ghiorzo
Paola
P
Battistuzzi
Linda
L
Ascierto
Paolo A
PA
Barile
Monica
M
Gargiulo
Sara
S
Gensini
Francesca
F
Gliori
Sara
S
Guida
Michele
M
Lombardo
Maurizio
M
Manoukian
Siranoush
S
Menin
Chiara
C
Nasti
Sabina
S
Origone
Paola
P
Pasini
Barbara
B
Pastorino
Lorenza
L
Peissel
Bernard
B
Pizzichetta
Maria Antonietta
MA
Queirolo
Paola
P
Rodolfo
Monica
M
Romanini
Antonella
A
Scaini
Maria Chiara
MC
Testori
Alessandro
A
Tibiletti
Maria Grazia
MG
Turchetti
Daniela
D
Leachman
Sancy A
SA
Bianchi Scarrà
Giovanna
G
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*
D019941:Cyclin-Dependent Kinase Inhibitor p16