RT Journal Article
SR Electronic
T1 Clinical Utility of Functional RNA Analysis for the Reclassification of Splicing Gene Variants in Hereditary Cancer
JF Cancer Genomics - Proteomics
JO Cancer Genomics Proteomics
FD International Institute of Anticancer Research
SP 285
OP 294
DO 10.21873/cgp.20259
VO 18
IS 3
A1 KONSTANTINOS AGIANNITOPOULOS
A1 GEORGIA PEPE
A1 EIRINI PAPADOPOULOU
A1 GEORGIOS N. TSAOUSIS
A1 STAVROULA KAMPOURI
A1 SONIA MARAVELAKI
A1 ATHANASSIOS FASSAS
A1 CHRISTOS CHRISTODOULOU
A1 RODONIKI IOSIFIDOU
A1 SOFIA KARAGEORGOPOULOU
A1 CHRISTOS MARKOPOULOS
A1 IOANNIS NATSIOPOULOS
A1 KONSTANTINOS PAPAZISIS
A1 MARIA VASILAKI-ANTONATOU
A1 VASSILEIOS VENIZELOS
A1 VAHIT OZMEN
A1 SUALP TANSAN
A1 KERIM KABAN
A1 DAN TUDOR ENIU
A1 ANGELICA CHIOREAN
A1 GEORGE NASIOULAS
YR 2021
UL http://cgp.iiarjournals.org/content/18/3/285.abstract
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.