Discovery and validation of cell-free DNA methylation markers for specific diagnosis, differentiation from benign tumors, and prognosis of breast cancer.

ABSTRACT:

Background

Plasma cell-free DNA (cfDNA) methylation is emerging as a non-invasive marker for various cancers. We aimed to identify specific methylation markers for diagnosis, differentiation from benign tumors, and prognosis of breast cancer (BC), which are essential for clinical decision-making yet seldom examined together.

Methods

BC-specific methylation markers were identified using an in-house 850K dataset combined with large-scale publicly available 450 or 850K datasets. Multiplex digital droplet PCR (mddPCR) assays were developed to detect methylation in cfDNA from 201 BC patients, 83 healthy donors, and 71 individuals harboring benign tumors. Diagnostic and prognostic performance were evaluated using logistic and Cox regression models, respectively. The basic mechanis

SUBMITTER: Gao L 

PROVIDER: S-EPMC12172351 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature