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Cancer-Critical Genes II: Tumor Suppressor Genes

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

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.

|July 25, 2025

Summary

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.

Keywords:

comprehensive genomic profiling gene fusions limit of detection matched therapy solid tumors

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Published on: February 7, 2025

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.