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Aberrant and Alternative Splicing in Cancer

Lookup NU author(s): Dr Julian Venables


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Pre-mRNA splicing is a sophisticated and ubiquitous nuclear process, which is a natural source of cancer-causing errors in gene expression. Intronic splice site mutations of tumor suppressor genes often cause exon-skipping events that truncate proteins just like classical nonsense mutations. Also, many studies over the last 20 years have reported cancer-specific alternative splicing in the absence of genomic mutations. Affected proteins include transcription factors, cell signal transducers, and components of the extracellular matrix. Antibodies against alternatively spliced products on cancer cells are currently in clinical trials, and competitive reverse transcription-PCR across regions of alternative splicing is being used as a simple diagnostic test. As well as being associated with cancer, the nature of the alternative gene products is usually consistent with an active role in cancer; therefore, the alternative splicing process itself is a potential target for gene therapy.

Publication metadata

Author(s): Venables JP

Publication type: Review

Publication status: Published

Journal: Cancer Research

Year: 2004

Volume: 64

Issue: 21

Pages: 7647-7654

Print publication date: 01/11/2004

ISSN (print): 0008-5472

ISSN (electronic): 1538-7445


DOI: 10.1158/0008-5472.CAN-04-1910

PubMed id: 15520162