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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
Published on: August 24, 2017
Next-Generation Sequencing-Based Analysis of the Genetic Mutation Spectrum in Colorectal Cancer: A Large
Huijuan Xu1,2, Ruichen Luo1,2, Weiyuan Chen2,3
1Department of Pathology, Zhongshan Hospital (Xiamen), Fudan University, Xiamen, China.
Molecular Carcinogenesis
|April 21, 2026
Summary
This study analyzed gene mutations in 381 colorectal cancer (CRC) patients. Key mutations like TP53, KRAS, and PIK3CA were linked to tumor location and MSI status, aiding precise CRC stratification.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Colorectal cancer (CRC) is characterized by significant molecular heterogeneity.
- Understanding the genetic drivers and their clinicopathological correlations is crucial for effective treatment strategies.
Purpose of the Study:
- To delineate the mutational landscape of CRC in a single-center cohort.
- To investigate associations between frequently mutated genes and clinicopathological features using next-generation sequencing (NGS).
Main Methods:
- Targeted sequencing of 40 cancer-related genes in 381 CRC patients.
- Analysis of somatic variants and their correlation with tumor location, clinical stage, and microsatellite instability (MSI) status.
- Statistical assessment using the chi-squared test.
Main Results:
- Somatic variants were identified in 369 out of 381 patients across 30 genes.
- The most frequent mutations were TP53 (76.9%), KRAS (47.8%), and PIK3CA (18.9%).
- TP53 mutations correlated with left-sided CRC, while KRAS and PIK3CA mutations were associated with right-sided CRC. PIK3CA mutations were more frequent in MSI-high tumors.
Conclusions:
- Specific gene mutations in CRC are significantly associated with distinct clinicopathological characteristics.
- Molecular profiling, integrated with clinicopathological data, is essential for precise CRC patient stratification.
- Findings highlight the importance of genetic analysis for personalized CRC management.
