Article
The CDKN2A/p16(INK) (4a) 5'UTR sequence and translational regulation: impact of novel variants predisposing to melanoma.
Pigment cell & melanoma research - 1 Mar 2016
Andreotti Virginia, Bisio Alessandra, Bressac-de Paillerets Brigitte, Harland Mark, Cabaret Odile, Newton-Bishop Julia, Pastorino Lorenza, Bruno William, Bertorelli Roberto, De Sanctis Veronica, Provenzani Alessandro, Menin Chiara, Fronza Gilberto, Queirolo Paola, Spitale Robert C, Bianchi-Scarrà Giovanna, Inga Alberto, Ghiorzo Paola
Abstract excerpt
Many variants of uncertain functional significance in cancer susceptibility genes lie in regulatory regions, and clarifying their association with disease risk poses significant challenges. We studied 17 germline variants (nine of which were novel) in the CDKN2A 5'UTR with independent approaches, which included mono and bicistronic reporter assays, Western blot of endogenous protein, and allelic representation...
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