Alternative splicing is a key molecular mechanism for increasing the
functional diversity of the eukaryotic proteomes. A large body of experimental data
implicates aberrant splicing in various human diseases, including cancer. Both
mutations in cis-acting splicing elements and alterations in the expression and/or
activity of splicing regulatory factors drastically affect the splicing profile of many
cancer-associated genes. In addition, the splicing profile of several cancer-associated
genes is altered in particular types of cancer arguing for a direct role of specific splicing
isoforms in tumor progression. Deciphering the mechanisms underlying aberrant
splicing in cancer may prove crucial to understand how splicing machinery is controlled
and integrated with other cellular processes, in particular transcription and signaling
pathways. Moreover, the characterization of splicing deregulation in cancer will lead to
a better comprehension of malignant transformation. Cancer-associated alternative
splicing variants may be new tools for the diagnosis and classification of cancers and
could be the targets for innovative therapeutical interventions based on highly selective
splicing correction approaches.
Keywords: Alternative splicing, cancer, EMT, splicing correction, splicing
factors, biomarkers.
