Comprehensive Genomic Profiling in Cancer: Insights from Over 10,000 Tumors
whatshot 8 snips
Dec 15, 2025
Discover how comprehensive genomic profiling is revolutionizing cancer treatment by uncovering specific drug targets based on genetic mutations. Learn about the challenges of traditional narrow testing and the breakthroughs from a large-scale study analyzing over 11,000 tumor samples. Nearly 92% of these samples revealed actionable alterations, with significant findings in low-level variants and gene fusions. The podcast also explores the advantages of combining DNA and RNA analysis, guiding immunotherapy decisions and enhancing targeted therapy selection.
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insights INSIGHT
High Yield Of Actionable Alterations
Comprehensive profiling of >11,000 tumors found actionable alterations in nearly 92% of samples.
This reveals broad genomic testing can uncover treatment options missed by small panels.
insights INSIGHT
Many Findings Match Approved Therapies
About half the samples had mutations linked to FDA-approved therapies, including across cancer types.
This supports using genomic features, not tumor origin alone, to expand treatment options.
insights INSIGHT
Sensitive Detection Reveals Rare Events
The assay detected low-level mutations and complex events like gene fusions that routine tests often miss.
Detecting these rare changes can influence diagnosis and treatment in cancers like prostate and sarcoma.
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Cancer treatment is moving toward a more precision-based approach, where therapies are guided not just by the tumor’s location but also by its genetic features. Mutations in cancer cells can point to specific drugs that may be more effective for certain patients. However, detecting these mutations often requires broad and detailed analysis. This is where comprehensive genomic profiling becomes especially important.
One of the main challenges in cancer care is that many existing genetic tools focus on only a limited number of mutations. As a result, some treatment opportunities may be missed. Certain mutations are also difficult to detect because they occur at low levels or exist in complex forms, such as gene fusions. Without advanced screening methods, these changes may go unnoticed.
To address these challenges, researchers from Exact Sciences Corporation conducted a large-scale study using a broad genomic screening approach. The findings were recently published in the journal Oncotarget.
Full blog - https://www.oncotarget.org/2025/12/15/comprehensive-genomic-profiling-in-cancer-insights-from-over-10000-tumors/
Paper DOI - https://doi.org/10.18632/oncotarget.28757
Correspondence to - Jean-Paul De La O - jdelao@exactsciences.com
Abstract video - https://www.youtube.com/watch?v=awiRhDfiMTE
Sign up for free Altmetric alerts about this article - https://oncotarget.altmetric.com/details/email_updates?id=10.18632%2Foncotarget.28757
Subscribe for free publication alerts from Oncotarget - https://www.oncotarget.com/subscribe/
Keywords - cancer, solid tumors, comprehensive genomic profiling, matched therapy, gene fusions, limit of detection
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