LINE-1 Retrotransposons as Cell-free DNA Biomarkers for Multicancer Early Detection.

Szymanski, Jeffrey J; Chauhan, Pradeep S; Chaudhuri, Aadel A · Clin Cancer Res · 2025

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Abstract

LINE-1 retrotransposons, comprising 17% of the genome, drive cancer instability through hypomethylation. The Detection of long Interspersed nuclear element Altered Methylation ON plasma DNA (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. See related article by Michel et al., p. 1275.

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