Genome-wide discovery of circulating cell-free DNA methylation signatures for the differential diagnosis of triple-negative breast cancer.

ABSTRACT:

Background

Preoperative identification of breast cancer (BC) subtypes is essential for optimizing treatment strategies and improving patient outcomes. This study aimed to identify circulating cell-free DNA (cfDNA) methylation signatures to differentiate triple-negative breast cancer (TNBC) from other BC subtypes (non-TNBC).

Methods

We initially performed a genome-wide analysis to identify differentially methylated CpG sites (DMCs; |Δβ| > 0.10 and P < 0.05) between five TNBC and nine non-TNBC tissues using the Infinium HumanMethylationEPIC BeadChip. These DMCs were further validated using large-scale data from the Cancer Genome Atlas (TCGA, n = 774; |Δβ| > 0. 25 and P < 0.05), and only CpG sites with average β values > 0.90 or < 0.10

SUBMITTER: Gao L 

PROVIDER: S-EPMC12374692 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature