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Published on: April 11, 2016
Next-Generation Sequencing in Colorectal Cancer: Real-World Molecular Profiling and Clinical Correlations
Afonso Cunha1, Carolina Robalo2, Carolina Lemos3,4
1School of Medicine and Biomedical Sciences, University of Porto, Rua Jorge de Viterbo Ferreira, 228, 4050-313 Porto, Portugal.
International Journal of Molecular Sciences
|August 13, 2026
Summary
Routine next-generation sequencing (NGS) in colorectal cancer (CRC) reveals frequent genetic alterations but insufficient molecular subgroups for precise patient stratification. Larger studies with broader profiling are needed for personalized therapies.
Area of Science:
- Oncology
- Genomics
- Precision Medicine
Background:
- Next-generation sequencing (NGS) is crucial for precision oncology in colorectal cancer (CRC).
- Its utility in routine patient stratification requires further definition.
- Understanding the molecular landscape aids in personalized treatment strategies.
Purpose of the Study:
- To characterize the molecular landscape of CRC patients undergoing routine NGS.
- To explore associations between genomic alterations and clinicopathological features.
- To assess the adequacy of targeted NGS for patient subgroup identification.
Main Methods:
- Retrospective analysis of 97 clinically selected CRC patients.
- Targeted NGS performed on two validated platforms.
- Integration of demographic, clinicopathological, and molecular data; statistical association testing and principal component analysis employed.
Main Results:
- 93.8% of patients had at least one reportable genetic alteration.
- Most frequent alterations: TP53 (55.7%), KRAS (40.2%), PIK3CA (18.6%), BRAF (11.5%).
- Microsatellite instability detected in 19.1%; modest associations found between molecular alterations and clinicopathological features, but no robust subgroups emerged.
Conclusions:
- Routine targeted NGS provides comprehensive molecular data for CRC patients.
- Current targeted panels are insufficient for robust molecular subgroup definition in this cohort.
- Larger prospective studies with broader molecular profiling are recommended for improved patient stratification and personalized therapy.
