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Aberrant and alternative splicing in cancer

Julian P Venables1

  • 1University of Newcastle-upon-Tyne, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle-upon-Tyne, United Kingdom. j.venables@ncl.ac.uk

Cancer Research
|November 3, 2004
PubMed

Insights

Errors in pre-messenger RNA (mRNA) splicing, a key gene expression process, contribute to cancer development. Cancer-specific alternative splicing, even without genomic mutations, affects crucial proteins and offers potential diagnostic and therapeutic targets.

Area of Science:

  • Molecular Biology
  • Genetics
  • Cancer Research

Background:

  • Pre-messenger RNA (mRNA) splicing is a fundamental nuclear process essential for gene expression.
  • Errors in splicing, including exon skipping and alternative splicing, are increasingly recognized as significant contributors to oncogenesis.
  • These splicing aberrations can lead to truncated or non-functional tumor suppressor proteins, driving cancer initiation and progression.

Purpose of the Study:

  • To highlight the role of pre-mRNA splicing errors in cancer development.
  • To discuss cancer-specific alternative splicing events and their impact on protein function.
  • To explore the diagnostic and therapeutic potential of targeting alternative splicing in cancer.

Main Methods:

  • Review of existing literature on splicing errors and cancer.
  • Analysis of studies reporting cancer-specific alternative splicing events.
  • Examination of current diagnostic and therapeutic strategies targeting alternative splicing.

Main Results:

  • Intronic splice site mutations in tumor suppressor genes can cause exon skipping, leading to protein truncation.
  • Numerous studies have identified cancer-specific alternative splicing events independent of genomic mutations.
  • Affected proteins encompass critical cancer-related molecules like transcription factors and cell signaling components.

Conclusions:

  • Alternative splicing is a significant factor in cancer biology, often promoting tumorigenesis.
  • Antibodies targeting alternatively spliced products show promise in clinical trials.
  • Alternative splicing represents a viable target for novel cancer gene therapies and diagnostics.

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