CDKN2A Unclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment. Issue 7 (21st May 2014)

• Record Type: Journal Article
• Authors: 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.
• Is Part Of: Human mutation. Volume 35:Issue 7(2014:Jul.)
• Page Start: 828
• Page End: 840
• Publication Date: 2014-05-21
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22550
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22550-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Our work tested an integrated model for the characterization of p16INK4a unclassified variants providing a robust tool for the interpretation of their structural and functional impact.</p> <p>We <list id="humu22550-list-0001" list-type="roman-lower"><list-item><p>assessed the ability of new in silico tools to discriminate neutral/deleterious p16INK4a variants;</p></list-item><list-item><p>combined in silico/in vitro assays;</p></list-item><list-item><p>used a Bayesian method to obtain a final classification</p></list-item></list></p> <p>Evaluation of in silico/functional data disclosed a high agreement for 15/16 variants, suggesting that this approach could represent a pilot study. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pghmgm4wnf" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>