PT - JOURNAL ARTICLE AU - KONSTANTINOS AGIANNITOPOULOS AU - GEORGIA PEPE AU - EIRINI PAPADOPOULOU AU - GEORGIOS N. TSAOUSIS AU - STAVROULA KAMPOURI AU - SONIA MARAVELAKI AU - ATHANASSIOS FASSAS AU - CHRISTOS CHRISTODOULOU AU - RODONIKI IOSIFIDOU AU - SOFIA KARAGEORGOPOULOU AU - CHRISTOS MARKOPOULOS AU - IOANNIS NATSIOPOULOS AU - KONSTANTINOS PAPAZISIS AU - MARIA VASILAKI-ANTONATOU AU - VASSILEIOS VENIZELOS AU - VAHIT OZMEN AU - SUALP TANSAN AU - KERIM KABAN AU - DAN TUDOR ENIU AU - ANGELICA CHIOREAN AU - GEORGE NASIOULAS TI - Clinical Utility of Functional RNA Analysis for the Reclassification of Splicing Gene Variants in Hereditary Cancer AID - 10.21873/cgp.20259 DP - 2021 May 01 TA - Cancer Genomics - Proteomics PG - 285--294 VI - 18 IP - 3 4099 - http://cgp.iiarjournals.org/content/18/3/285.short 4100 - http://cgp.iiarjournals.org/content/18/3/285.full SO - Cancer Genomics Proteomics2021 May 01; 18 AB - 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 was performed using RT-PCR and Sanger Sequencing. Results: In total, 34 different SVs were identified, 53% of which were classified as pathogenic or likely pathogenic. The remaining 16 variants were initially classified as Variant of Uncertain Significance (VUS). RNA analysis was performed for 3 novel variants. Conclusion: The RNA analysis assisted in the reclassification of 20% of splicing variants from VUS to pathogenic. RNA analysis is essential in the case of uncharacterized splicing variants, for proper classification and personalized management of these patients.