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LINE-1 Retrotransposons As Cell-free DNA Biomarkers for Multi-Cancer Early Detection

Overview
Journal Clin Cancer Res
Date 2025 Jan 29
PMID 39879112
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Abstract

LINE-1 retrotransposons, comprising 17% of the genome, drive cancer instability through hypomethylation. The DIAMOND assay, targeting LINE-1 hypomethylation with bisulfite sequencing of cell free DNA, achieved AUCs of 88% to 100% across six cancer types, surpassing mutation-based diagnostics and suggesting utility in early cancer detection and management.