Article
Genomic rearrangements of the CDKN2A locus are infrequent in Italian malignant melanoma families without evidence of CDKN2A/CDK4 point mutations.
Melanoma research - 1 Dec 2008
Vignoli Marina, Scaini Maria Chiara, Ghiorzo Paola, Sestini Roberta, Bruno William, Menin Chiara, Gensini Francesca, Piazzini Mauro, Testori Alessandro, Manoukian Siranoush, Orlando Claudio, D'Andrea Emma, Bianchi-Scarrà Giovanna, Genuardi Maurizio
Abstract excerpt
Predisposition to familial cutaneous malignant melanoma has been associated with mutations in the CDKN2A and CDK4 genes. However, only a small subgroup of melanoma pedigrees harbour CDKN2A or CDK4 germline mutations. It is possible that other types of CDKN2A rearrangements, not detectable by routine PCR-based approaches, are involved in a fraction of melanoma cases negative for point sequence changes. In order to...
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