Related Experiment Video

Updated: Mar 17, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

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Sequencing Structural Variants in Cancer for Precision Therapeutics

Geoff Macintyre1, Bauke Ylstra2, James D Brenton1

  • 1Cancer Research UK Cambridge Institute, University of Cambridge, UK.

Trends in Genetics : TIG
|August 2, 2016
PubMed

Insights

Identifying cancer-driving structural variants is crucial for targeted therapies. This review explores methods for detecting these variants, addressing an unmet clinical need for rapid and affordable profiling.

Area of Science:

  • Oncology
  • Genomics
  • Molecular Diagnostics

Background:

  • Cancer therapy selection increasingly relies on identifying specific mutations.
  • Current solid tumor profiling primarily uses DNA sequencing for point mutations.
  • Many aggressive cancers are driven by structural variants missed by standard assays.

Purpose of the Study:

  • To address the unmet need for clinical assays that can rapidly and affordably profile structural variants in solid tumors.
  • To review the landscape of actionable structural variants in cancer.
  • To identify promising detection strategies for structural variants using massively-parallel sequencing.

Main Methods:

  • Literature review of current cancer profiling techniques.
  • Survey of 'actionable' structural variants in various cancers.
  • Evaluation of massively-parallel sequencing strategies for variant detection.

Main Results:

  • Standard DNA sequencing assays often fail to detect critical structural variants.
  • Specific cancers like ovarian, oesophageal, and small-cell lung cancer are driven by these variants.
  • Massively-parallel sequencing offers promising avenues for structural variant detection.

Conclusions:

  • There is a significant clinical need for improved methods to detect structural variants in solid tumors.
  • Actionable structural variants represent a key area for therapeutic targeting.
  • Advancements in massively-parallel sequencing are vital for developing effective clinical assays.
Keywords:
cancerclinical sequencingshallow whole-genome sequencingstructural variation

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