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Updated: May 5, 2026
Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
Comprehensive genomic profiling of over 10,000 advanced solid tumors
Jean-Paul De La O1, Jess R Hoag1, Angela K Deem1
1Exact Sciences Corporation, Madison, WI 53719, USA.
Over 92% of solid tumor samples harbor therapeutically actionable genomic alterations. The OncoExTra assay identifies clinically relevant mutations and fusions, aiding treatment decisions for advanced cancers.
Area of Science:
- Genomics
- Oncology
- Molecular Diagnostics
Background:
- Genomic profiling is crucial for personalized cancer therapy.
- Understanding the landscape of genomic alterations in solid tumors is essential for clinical decision-making.
Purpose of the Study:
- To summarize clinically relevant genomic alterations in over 10,000 solid tumor samples.
- To assess the utility of the OncoExTra assay in detecting actionable mutations.
Main Methods:
- Retrospective analysis of OncoExTra assay data from 11,091 solid tumor samples.
- Descriptive statistics were used to summarize genomic findings.
Main Results:
- 92.0% of samples had therapeutically actionable alterations.
- Biomarkers for FDA-approved therapies were found in 29.2% (on-label) and 28.0% (off-label) of samples.
- Clinically relevant fusions were detected in 7.5% of samples, with high prevalence in prostate cancer.
Conclusions:
- The OncoExTra assay effectively detects therapeutically actionable genomic events.
- These findings can inform clinical decision-making for patients with advanced solid tumors.
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