Multidimensional cell-free DNA fragmentomics enables early detection of breast cancer.

ABSTRACT:

Background

Cell-free DNA (cfDNA) fragmentomics represents a transformative approach for early breast cancer detection, offering significant potential to improve patient survival through timely intervention. Despite this promise, existing cfDNA-based methods demonstrate inadequate sensitivity for clinical implementation, particularly in early-stage malignancies. There remains an urgent need to develop robust, cost-effective diagnostic strategies integrating cfDNA fragmentomic profiling with advanced machine learning algorithms.

Methods

This research involved a total of 191 participants who did not have cancer and 204 participants diagnosed with breast cancer. The plasma cfDNA samples from the participants underwent profiling through whole-genome sequencing. A variety of cfDNA

SUBMITTER: Yang L 

PROVIDER: S-EPMC12801790 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature