An Approach for Differential Diagnosis of Breast Tumors by ctDNA Methylation Sequencing.

ABSTRACT:

Background

Breast ultrasonography and mammography remain predominant in breast tumor evaluations, yet they often result in false positives, particularly for tumors classified as BI-RADS 4a or those no more than 10 mm, which are not ideal for core needle biopsy (CNB). Early-stage breast cancer detection via circulating tumor DNA (ctDNA) methylation holds potential to bridge these diagnostic gaps.

Methods

We curated a breast cancer-specific panel by harnessing methylation profiles from in-house and public databases. Leveraging breast tissue-plasma-leukocyte samples, we identified breast cancer-specific markers, culminating in a 103-marker methylation model which underwent rigorous validation in two independent cohorts. To assess its performance, we compared it against the accu

SUBMITTER: Zhang X 

PROVIDER: S-EPMC12180084 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature