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Updated: May 25, 2026
11:02
Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
Cancer genomics: technology, discovery, and translation
Ben Tran1, Janet E Dancey, Suzanne Kamel-Reid
1FRCPC, Princess Margaret Hospital, Drug Development Program, 610 University Ave, Ste 5-718, Toronto, Ontario, M5G 2M9, Canada.
Summary
Personalized cancer medicine (PCM) is advancing due to the understanding that genetic mutations drive cancer. Translating cancer genomics into clinical practice involves specific technologies, challenges, and feasibility studies.
Area of Science:
- Oncology
- Genomics
- Translational Medicine
Background:
- Somatic mutations and genetic aberrations are increasingly recognized as drivers of human malignancies.
- This understanding underpins the development of personalized cancer medicine (PCM).
- Key premises for PCM include actionable genetic aberrations and targeted anticancer agents.
Purpose of the Study:
- To highlight the technologies enabling cancer genomics.
- To examine early results and challenges in discovering new genetic aberrations.
- To discuss the translation of cancer genomics into clinical practice.
Main Methods:
- Review of technologies underlying cancer genomics.
- Examination of early genome sequencing results.
- Analysis of a feasibility study on somatic mutation genotyping and targeted exome sequencing.
Main Results:
- Identification of challenges in discovering new genetic aberrations.
- Insights into the processes and issues of translating cancer genomics to the clinic.
- Demonstration of feasibility through a multi-institutional study.
Conclusions:
- Cancer genomics technologies are advancing personalized cancer medicine.
- Translating genomic discoveries into clinical practice presents significant challenges.
- Feasibility studies are crucial for implementing genomic-guided cancer therapies.
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