Article
Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.
PloS one - 1 Jan 2013
Colombo Mara, De Vecchi Giovanna, Caleca Laura, Foglia Claudia, Ripamonti Carla B, Ficarazzi Filomena, Barile Monica, Varesco Liliana, Peissel Bernard, Manoukian Siranoush, Radice Paolo
Abstract excerpt
Several unclassified variants (UVs) have been identified in splicing regions of disease-associated genes and their characterization as pathogenic mutations or benign polymorphisms is crucial for the understanding of their role in disease development. In this study, 24 UVs located at BRCA1 and BRCA2 splice sites were characterized by transcripts analysis. These results were used to evaluate the ability of nine...
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