Article
Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.
Human mutation - 1 Jan 2014
de Garibay Gorka Ruiz, Acedo Alberto, García-Casado Zaida, Gutiérrez-Enríquez Sara, Tosar Alicia, Romero Atocha, Garre Pilar, Llort Gemma, Thomassen Mads, Díez Orland, Pérez-Segura Pedro, Díaz-Rubio Eduardo, Velasco Eladio A, Caldés Trinidad, de la Hoya Miguel
Abstract excerpt
Rare sequence variants in "high-risk" disease genes, often referred as unclassified variants (UVs), pose a serious challenge to genetic testing. However, UVs resulting in splicing alterations can be readily assessed by in vitro assays. Unfortunately, analytical and clinical interpretation of these assays is often challenging. Here, we explore this issue by conducting splicing assays in 31 BRCA2 genetic variants....
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