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Evaluation of Colorectal Cancer Risk and Prevalence by Stool DNA Integrity Detection

Evaluation of Colorectal Cancer Risk and Prevalence by Stool DNA Integrity Detection

Published on: June 8, 2020

A Novel Blood-Based Test for Colorectal Cancer Detection Using Cell-Free DNA Fragmentomics.

Seung Wook Hong¹, Juntae Park², Junnam Lee²

¹Department of Gastroenterology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

The American Journal of Gastroenterology

|November 19, 2025

Summary

This summary is machine-generated.

A new blood test using cell-free DNA (cfDNA) fragmentomics shows high accuracy for colorectal cancer (CRC) screening. This noninvasive test also demonstrated acceptable performance for detecting advanced adenomas (AA).

Keywords:

cell-free DNA colorectal cancer screening

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Detection of Cell-Free DNA in Blood Plasma Samples of Cancer Patients

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Published on: September 9, 2020

Cell-Free DNA Integrity Analysis in Urine Samples

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Published on: January 5, 2017

Area of Science:

Oncology
Genomics
Biomarkers

Background:

Fragmentomic analysis of cell-free DNA (cfDNA) is a promising noninvasive approach for cancer screening.
Developing accurate blood tests for colorectal cancer (CRC) and advanced adenoma (AA) is crucial for early detection and improved patient outcomes.

Purpose of the Study:

To develop and evaluate a novel cfDNA-based blood test for diagnosing colorectal cancer (CRC) and advanced adenoma (AA).
To assess the diagnostic performance of the cfDNA test in a prospective case-control study.

Main Methods:

A prospective case-control study enrolled 1,677 participants, including those with normal colonoscopy, CRC, and AA.
Whole-genome sequencing of cfDNA was used to extract fragmentomic features.
A diagnostic model was developed using the Residual Enrichment From Independent Normal Ensemble method and validated in a separate cohort.

Main Results:

The cfDNA test achieved 90.4% sensitivity for CRC and 58.3% for AA in the validation cohort.
Overall accuracy for advanced neoplasia was 84.8%, with 94.7% specificity in normal individuals.
High diagnostic accuracy was observed across all CRC stages and consistent performance across subgroups.

Conclusions:

The developed cfDNA-based blood test shows high diagnostic accuracy for CRC and acceptable performance for AA.
This noninvasive test holds potential as an effective screening tool for colorectal cancer, with consistent performance across various clinical subgroups.