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Updated: Mar 9, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Clinical Application of Targeted Next Generation Sequencing for Colorectal Cancers
Quitterie Fontanges1, Ricardo De Mendonca2, Isabelle Salmon3
1Department of Pathology, Erasme Hospital, Université Libre de Bruxelles, 1070 Brussels, Belgium. quitterie.fontanges@erasme.ulb.ac.be.
Abstract:
Promising targeted therapy and personalized medicine are making molecular profiling of tumours a priority. For colorectal cancer (CRC) patients, international guidelines made RAS (KRAS and NRAS) status a prerequisite for the use of anti-epidermal growth factor receptor agents (anti-EGFR). Daily, new data emerge on the theranostic and prognostic role of molecular biomarkers, which is a strong incentive for a validated, sensitive and broadly available molecular screening test in order to implement and improve multi-modal therapy strategy and clinical trials. Next generation sequencing (NGS) has begun to supplant other technologies for genomic profiling. Targeted NGS is a method that allows parallel sequencing of thousands of short DNA sequences in a single test offering a cost-effective approach for detecting multiple genetic alterations with a minimum amount of DNA. In the present review, we collected data concerning the clinical application of NGS technology in the setting of colorectal cancer.
Insights
Next-generation sequencing (NGS) is crucial for molecular profiling in colorectal cancer (CRC). This review highlights NGS
Area of Science:
- Oncology
- Genomics
- Molecular Diagnostics
Background:
- Personalized medicine and targeted therapies necessitate molecular tumor profiling for colorectal cancer (CRC).
- RAS (KRAS and NRAS) mutational status is a prerequisite for anti-EGFR therapy in CRC patients.
- Emerging data on molecular biomarkers emphasize the need for validated, sensitive, and accessible screening tests.
Purpose of the Study:
- To review the clinical applications of Next-Generation Sequencing (NGS) technology in colorectal cancer.
- To highlight the role of NGS in molecular profiling for guiding CRC therapy and clinical trials.
Main Methods:
- Review of existing literature on NGS technology and its application in colorectal cancer.
- Focus on targeted NGS as a method for parallel sequencing of multiple genetic alterations.
- Emphasis on cost-effectiveness and minimal DNA input requirements for NGS.
Main Results:
- NGS is increasingly supplanting other genomic profiling technologies.
- Targeted NGS enables simultaneous detection of numerous genetic alterations.
- NGS offers a cost-effective solution for comprehensive molecular screening in CRC.
Conclusions:
- NGS is a powerful tool for molecular profiling in colorectal cancer.
- Its application supports the implementation of personalized medicine and multi-modal therapy strategies.
- NGS facilitates improved clinical trial design and patient stratification.
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