A multi-center study for colorectal cancer early detection in high-risk disease patients using cell-free fragmentomics assay.

ABSTRACT:

Background

Early detection of colorectal cancer (CRC) is crucial for improving patient survival. This innovative multi-center study aims to develop a non-invasive blood-based assay using cell-free DNA (cfDNA) fragmentomics to differentiate CRC from advanced colorectal adenomas and non-cancerous colorectal and other digestive diseases.

Methods

A total of 167 CRC patients and 227 with benign colorectal conditions were divided into training and validation cohorts (1:1 ratio). Plasma cfDNA underwent Low-depth whole-genome sequencing to profile three fragmentomics features, which were integrated into a stacked ensemble model. The model was validated on 69 CRC patients and 96 benign controls, with an additional cohort of 31 advanced adenoma patients included to assess its performa

SUBMITTER: Chen J 

PROVIDER: S-EPMC12574013 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature