Holding on to Junk Bonds: Intron Retention in Cancer and Therapy

Holding on to Junk Bonds: Intron Retention in Cancer and Therapy.

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Item Type: Review
Status: Published
Official URL: https://doi.org/10.1158/0008-5472.CAN-20-1943
Journal or Publication Title: Cancer Research
Volume: 81
Number: 4
Page Range: pp. 779-789
Date: 2020
Divisions: Gene and Stem Cell Therapy
Computational BioMedicine
Depositing User: General Admin
Identification Number: 10.1158/0008-5472.CAN-20-1943
ISSN: 0008-5472
Date Deposited: 10 Jun 2021 05:55

Intron retention (IR) in cancer was for a long time overlooked by the scientific community, as it was previously considered to be an artifact of a dysfunctional spliceosome. Technological advancements made in the last decade offer unique opportunities to explore the role of IR as a widespread phenomenon that contributes to the transcriptional diversity of many cancers. Numerous studies in cancer have shed light on dysregulation of cellular mechanisms that lead to aberrant and pathologic IR. IR is not merely a mechanism of gene regulation, but rather it can mediate cancer pathogenesis and therapeutic resistance in various human diseases. The burden of IR in cancer is governed by perturbations to mechanisms known to regulate this phenomenon and include epigenetic variation, mutations within the gene body, and splicing factor dysregulation. This review summarizes possible causes for aberrant IR and discusses the role of IR in therapy or as a consequence of disease treatment. As neoepitopes originating from retained introns can be presented on the cancer cell surface, the development of personalized cancer vaccines based on IR-derived neoepitopes should be considered. Ultimately, a deeper comprehension about the origins and consequences of aberrant IR may aid in the development of such personalized cancer vaccines.

©2020 American Association for Cancer Research.

Monteuuis, Geoffray
Schmitz, Ulf
Petrova, Veronika
Kearney, Padraic S.
Rasko, John E.J.
Last Modified: 10 Jun 2021 05:55
URI: https://eprints.centenary.org.au/id/eprint/1017

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