Splicing-factor alterations in cancers

  1. Adrian R. Krainer
  1. Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA
  1. Corresponding authors: olga.anczukow{at}jax.org, krainer{at}cshl.edu
  • 1 Present address: The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA

Abstract

Tumor-associated alterations in RNA splicing result either from mutations in splicing-regulatory elements or changes in components of the splicing machinery. This review summarizes our current understanding of the role of splicing-factor alterations in human cancers. We describe splicing-factor alterations detected in human tumors and the resulting changes in splicing, highlighting cell-type-specific similarities and differences. We review the mechanisms of splicing-factor regulation in normal and cancer cells. Finally, we summarize recent efforts to develop novel cancer therapies, based on targeting either the oncogenic splicing events or their upstream splicing regulators.

Footnotes

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