Affiliation: University of Genoa
Bruno W, Pastorino L, Ghiorzo P, Andreotti V, Martinuzzi C, Menin C, et al
. Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup. J Am Acad Dermatol. 2016;74:325-32 pubmed publisher
..Rare novel susceptibility genes were not tested. Italian patients who developed 2 melanomas, even in situ, should be referred for genetic counseling even in the absence of family history. ..
Pastorino L, Bonelli L, Ghiorzo P, Queirolo P, Battistuzzi L, Balleari E, et al
. CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma. Pigment Cell Melanoma Res. 2008;21:700-9 pubmed publisher
..The high frequency of CDKN2A mutations in our MPM cases, independent of their family history, is of relevance to genetic counseling and testing in our population. ..
Pastorino L, Ghiorzo P, Nasti S, Battistuzzi L, Cusano R, Marzocchi C, et al
. Identification of a SUFU germline mutation in a family with Gorlin syndrome. Am J Med Genet A. 2009;149A:1539-43 pubmed publisher
..1022 + 1G>A SUFU germ line splicing mutation in a family that was PTCH1-negative and who had signs and symptoms of GS, including medulloblastoma. This is the first report of a germ line SUFU mutation associated with GS...