Article
Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes.
International journal of molecular sciences - 4 Jul 2022
Dragoš Vita Šetrajčič, Strojnik Ksenija, Klančar Gašper, Škerl Petra, Stegel Vida, Blatnik Ana, Banjac Marta, Krajc Mateja, Novaković Srdjan
Abstract excerpt
Pathogenic/likely pathogenic variants in susceptibility genes that interrupt RNA splicing are a well-documented mechanism of hereditary cancer syndromes development. However, if RNA studies are not performed, most of the variants beyond the canonical GT-AG splice site are characterized as variants of uncertain significance (VUS). To decrease the VUS burden, we have bioinformatically evaluated all novel VUS...
Topics
- Genetic Predisposition to Disease
- Humans
- Introns
- Mutation
- Neoplasms
- RNA Splice Sites
- RNA Splicing
- RNA, Messenger
- Transcription Factors