Reclassification of Splicing Gene Variants in Hereditary Cancer: Cases Report and Literature Review

Abstract

Alternative splicing (AS), a crucial cellular process, is a source of transcriptomic expansion and protein variability. Its contribution to cancer development and progression among a vast repertoire of human diseases, is highlighted lately and is under extensive investigation. In this review, the relative recent aspects of AS as a hallmark of cancer are described. In parallel, the importance of the identification of splicing-related variants through next-generation sequencing technologies is discussed. Cancer therapy and the management of patients and their families can highly benefit by the classification of these variants.

Keywords: Alternative splicing; RNA analysis; hereditary cancer; next-generation sequencing (NGS); review.