Related Experiment Video
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.
Purpose:
To summarize clinically relevant genomic alterations in solid tumor samples from over 10,000 patients.
Methods:
Descriptive statistics were used to summarize findings of retrospectively analyzed OncoExTra assay data from solid tumor samples.
Results:
The analysis cohort included 11,091 solid tumor samples from 10,768 patients. Therapeutically actionable alterations were present in 92.0% of patient samples. Biomarkers associated with on- or off-label FDA-approved therapies were detected in 29.2% and 28.0% of samples, respectively. The prevalence of hotspot alterations detected at variant allele frequency (VAF) <5% was analyzed among 7,481 samples (67.5%) harboring ≥1 of these events: 13.7% (1,022 of 7,481) had ≥1 alteration detected at VAF <5%, and 9.8% (558 of 5,690) of hotspot alterations associated with an on- or off-label FDA-approved therapy were detected at VAF <5%. Common and rare mutations in the TERT promoter were found in 8.4% (933) of samples. Whole transcriptome sequencing detected clinically relevant fusions in 7.5% of samples, with highest frequencies in prostate cancer (42.0%). The METe14 transcript was found in 14 NSCLC samples (2.7%).
Conclusions:
The broad capabilities of the OncoExTra assay detected therapeutically actionable and other clinically relevant genomic events that can inform clinical decision-making for patients with advanced solid tumors.
Insights
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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