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Updated: Apr 21, 2026
11:15
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
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Driver and passenger mutations in cancer.
1Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, Canada V5Z 1L3;
Annual Review of Pathology
|October 24, 2014
Summary
Identifying cancer drivers is crucial. This study reviews methods for distinguishing cancer-driving genetic and epigenetic changes, focusing on often-missed drivers like noncoding mutations and epigenetic alterations.
Area of Science:
- Genomics
- Cancer Biology
- Epigenetics
Background:
- Next-generation sequencing (NGS) identifies millions of somatic mutations and epigenetic changes in cancer.
- Distinguishing cancer-driving alterations from passenger mutations is a key challenge in cancer genomics.
Purpose of the Study:
- To review methods for identifying cancer driver mutations and epigenetic changes.
- To highlight challenges and recent advancements in driver identification.
- To focus on under-detected driver types.
Main Methods:
- Discussion of frequency-based and function-based approaches for driver identification.
- Analysis of advantages, drawbacks, and refinements of existing methods.
- Focus on specific driver types: copy number alterations, noncoding mutations, microRNA dysregulation, epigenetic changes, and chromatin modifier mutations.
Main Results:
- Frequency and function-based methods have limitations in identifying all cancer drivers.
- Certain driver types, including noncoding mutations and epigenetic alterations, are frequently missed by standard approaches.
- Refined methods are needed to accurately detect a broader spectrum of cancer drivers.
Conclusions:
- Accurate identification of cancer drivers is essential for understanding tumorigenesis.
- A comprehensive approach is required to detect all types of drivers, including those in noncoding regions and epigenetic modifications.
- Further development of analytical methods is necessary to improve the detection of subtle and complex cancer-driving alterations.
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