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Updated: May 30, 2025

Detection of Retrotransposition Activity of Hot LINE-1s by Long-Distance Inverse PCR
Published on: July 27, 2019
LINE-1 Retrotransposons as Cell-free DNA Biomarkers for Multicancer Early Detection
Jeffrey J Szymanski1,2, Pradeep S Chauhan1,2, Aadel A Chaudhuri1,2,3,4
1Department of Radiation Oncology, Mayo Clinic, Rochester, Minnesota.
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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