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Updated: Mar 1, 2026
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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
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Early detection: the impact of genomics
M C J van Lanschot1, L J W Bosch1, M de Wit1
1Department of Pathology, Netherlands Cancer Institute, Plesmanlaan 121, 1066, CX, Amsterdam, the Netherlands.
Summary
Genomics advances early cancer detection, particularly for colorectal cancer (CRC). Molecular signatures improve diagnosis from stool and blood, though sensitivity and specificity require further enhancement for precancerous lesions.
Area of Science:
- Genomics and molecular biology
- Cancer research and diagnostics
- Biomarker discovery
Background:
- Genomics provides insights into molecular processes underlying disease development, including cancer.
- Accumulated DNA alterations drive tumor growth and metastasis.
- Identifying molecular signatures aids in early tumor detection and understanding cancer progression.
Purpose of the Study:
- To review the impact of genomics on early cancer detection, using colorectal cancer (CRC) as a model.
- To highlight the discovery of diagnostic biomarkers for adenoma-to-carcinoma progression.
- To discuss advancements in molecular tests for non-invasive CRC detection.
Main Methods:
- Review of genomic insights into cancer development.
- Analysis of biomarkers for adenoma-to-carcinoma progression.
- Evaluation of molecular tests for non-invasive CRC detection in stool and blood.
Main Results:
- Genomic understanding has led to the discovery of diagnostic biomarkers for colorectal cancer.
- Molecular tests for early CRC detection in stool and blood have been developed.
- Current tests need improved sensitivity and specificity for precancerous lesions.
Conclusions:
- Genomics significantly impacts early cancer detection strategies.
- Progression biomarkers offer a more precise measure than morphological features for assessing test effectiveness.
- Similar biomarker developments are occurring for other cancer types.
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