Article
CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment.
Human mutation - 1 Jul 2014
Scaini Maria Chiara, Minervini Giovanni, Elefanti Lisa, Ghiorzo Paola, Pastorino Lorenza, Tognazzo Silvia, Agata Simona, Quaggio Monica, Zullato Daniela, Bianchi-Scarrà Giovanna, Montagna Marco, D'Andrea Emma, Menin Chiara, Tosatto Silvio C E
Abstract excerpt
CDKN2A codes for two oncosuppressors by alternative splicing of two first exons: p16INK4a and p14ARF. Germline mutations are found in about 40% of melanoma-prone families, and most of them are missense mutations mainly affecting p16INK4a. A growing number of p16INK4a variants of uncertain significance (VUS) are being identified but, unless their pathogenic role can be demonstrated, they cannot be used for...
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