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Updated: Mar 26, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Somatic DNA mutation analysis in targeted therapy of solid tumours.
Bing Yu1, Sandra A O'Toole1, Ronald J Trent1
11 Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, NSW 2050, Australia ; 2 Sydney Medical School (Central), the University of Sydney, NSW 2006, Australia ; 3 Department of Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, Camperdown, NSW 2050, Australia.
Somatic mutation analysis is key to personalized cancer medicine, identifying critical driver mutations for targeted therapies. Advances in DNA technology and bioinformatics will overcome current challenges, making this crucial for all cancer management.
Area of Science:
- Genomic Medicine
- Oncology
- Molecular Biology
Background:
- Cancer is fundamentally a genomic disease driven by accumulated mutations.
- The genomics era has significantly advanced understanding of melanoma, lung, and colorectal cancer biology.
- This knowledge fuels personalized medicine, enabling gene-based cancer treatments.
Purpose of the Study:
- To highlight the critical role of somatic mutation analysis in cancer genomics.
- To discuss the potential of identifying cancer's 'Achilles heel' through driver mutations.
- To explore the challenges and future directions in somatic DNA testing for targeted cancer therapy.
Main Methods:
- Genomic analysis of acquired mutations in cancer.
- Somatic mutation profiling to identify driver mutations.
- Review of current DNA technologies and bioinformatics in cancer research.
Main Results:
- Somatic mutation analysis is essential for personalized cancer treatment and targeted therapy.
- Current challenges include comprehensive genome coverage with limited DNA and timely, accurate reporting.
- Advances in DNA technologies and bioinformatics are crucial for overcoming these limitations.
Conclusions:
- Somatic mutation analysis is pivotal for advancing personalized oncology.
- Overcoming technical hurdles will maximize opportunities for targeted cancer therapies.
- This analysis is poised to become a standard component of cancer management across all malignancies.
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