Article
Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma.
Human molecular genetics - 15 Sept 2006
Ghiorzo Paola, Gargiulo Sara, Pastorino Lorenza, Nasti Sabina, Cusano Roberto, Bruno William, Gliori Sara, Sertoli Mario R, Burroni Anna, Savarino Vincenzo, Gensini Francesca, Sestini Roberta, Queirolo Paola, Goldstein Alisa M, Scarrà Giovanna Bianchi
Abstract excerpt
Mutations in the CDKN2A gene underlie melanoma susceptibility in as many as 50% of melanoma kindreds in selected populations, and several CDKN2A founder mutations have been described. Inherited mutations in CDKN2A have been found to be associated with other, non-melanoma cancers including pancreatic cancer (PC) and neural system tumors (NST). Here we report a novel germline mutation in exon 1 of the CDKN2A gene,...
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