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Updated: Mar 21, 2026
Evaluation of Colorectal Cancer Risk and Prevalence by Stool DNA Integrity Detection
Published on: June 8, 2020
Driver Gene Mutations in Stools of Colorectal Carcinoma Patients Detected by Targeted Next-Generation Sequencing
Gemma Armengol1, Virinder K Sarhadi2, Reza Ghanbari3
1Department of Pathology, Faculty of Medicine, University of Helsinki, Helsinki, Finland; Unit of Biological Anthropology, Department of Animal Biology, Plant Biology and Ecology, Autonomous University of Barcelona, Barcelona, Spain.
Abstract:
Detection of driver gene mutations in stool DNA represents a promising noninvasive approach for screening colorectal cancer (CRC). Amplicon-based next-generation sequencing (NGS) is a good option to study mutations in many cancer genes simultaneously and from a low amount of DNA. Our aim was to assess the feasibility of identifying mutations in 22 cancer driver genes with Ion Torrent technology in stool DNA from a series of 65 CRC patients. The assay was successful in 80% of stool DNA samples. NGS results showed 83 mutations in cancer driver genes, 29 hotspot and 54 novel mutations. One to five genes were mutated in 75% of cases. TP53, KRAS, FBXW7, and SMAD4 were the top mutated genes, consistent with previous studies. Of samples with mutations, 54% presented concomitant mutations in different genes. Phosphatidylinositol 3-kinase/mitogen-activated protein kinase pathway genes were mutated in 70% of samples, with 58% having alterations in KRAS, NRAS, or BRAF. Because mutations in these genes can compromise the efficacy of epidermal growth factor receptor blockade in CRC patients, identifying mutations that confer resistance to some targeted treatments may be useful to guide therapeutic decisions. In conclusion, the data presented herein show that NGS procedures on stool DNA represent a promising tool to detect genetic mutations that could be used in the future for diagnosis, monitoring, or treating CRC.
Insights
Next-generation sequencing (NGS) of stool DNA can detect colorectal cancer (CRC) driver gene mutations. This noninvasive approach shows promise for future CRC diagnosis, monitoring, and treatment guidance.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Colorectal cancer (CRC) screening can be improved by noninvasive methods.
- Detection of driver gene mutations in stool DNA offers a promising avenue for early CRC detection.
- Next-generation sequencing (NGS) enables simultaneous analysis of multiple cancer genes from limited DNA amounts.
Purpose of the Study:
- To evaluate the feasibility of using Ion Torrent technology for identifying mutations in 22 cancer driver genes within stool DNA samples from CRC patients.
- To assess the prevalence and patterns of driver gene mutations in colorectal cancer using a noninvasive stool DNA assay.
Main Methods:
- Utilized amplicon-based next-generation sequencing (NGS) with Ion Torrent technology.
- Analyzed stool DNA samples from 65 colorectal cancer (CRC) patients to detect mutations in 22 cancer driver genes.
- Assessed the success rate of the NGS assay and characterized the identified mutations.
Main Results:
- The NGS assay was successful in 80% of stool DNA samples.
- Identified 83 mutations in cancer driver genes, including 29 hotspot and 54 novel mutations.
- TP53, KRAS, FBXW7, and SMAD4 were the most frequently mutated genes; 75% of cases had 1–5 mutated genes, and 54% showed concomitant mutations.
Conclusions:
- NGS on stool DNA is a feasible and promising tool for detecting genetic mutations relevant to colorectal cancer (CRC).
- The findings support the potential use of this technology for future CRC diagnosis, monitoring, and guiding therapeutic decisions, especially concerning targeted treatments.
- Identification of mutations in pathways like PI3K/MAPK can inform treatment strategies for CRC patients receiving epidermal growth factor receptor blockade.
