Article
Clinical Utility of Functional RNA Analysis for the Reclassification of Splicing Gene Variants in Hereditary Cancer.
Cancer genomics & proteomics - 1 Jan 2000
Agiannitopoulos Konstantinos, Pepe Georgia, Papadopoulou Eirini, Tsaousis Georgios N, Kampouri Stavroula, Maravelaki Sonia, Fassas Athanassios, Christodoulou Christos, Iosifidou Rodoniki, Karageorgopoulou Sofia, Markopoulos Christos, Natsiopoulos Ioannis, Papazisis Konstantinos, Vasilaki-Antonatou Maria, Venizelos Vassileios, Ozmen Vahit, Tansan Sualp, Kaban Kerim, Eniu Dan Tudor, Chiorean Angelica, Nasioulas George
Abstract excerpt
BACKGROUND: Classification of splicing variants (SVs) in genes associated with hereditary cancer is often challenging. The aim of this study was to investigate the occurrence of SVs in hereditary cancer genes and the clinical utility of RNA analysis. MATERIAL AND METHODS: 1518 individuals were tested for cancer predisposition, using a Next Generation Sequencing (NGS) panel of 36 genes. Splicing variant analysis...
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