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LINE-1反转录转座子作为多癌早期检测的游离DNA生物标志物

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

作者信息

Szymanski Jeffrey J, Chauhan Pradeep S, Chaudhuri Aadel A

机构信息

Department of Radiation Oncology, Mayo Clinic, Rochester, Minnesota.

Mayo Clinic Comprehensive Cancer Center, Rochester, Minnesota.

出版信息

Clin Cancer Res. 2025 Apr 1;31(7):1179-1181. doi: 10.1158/1078-0432.CCR-24-4051.

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.

摘要

LINE-1反转录转座子占基因组的17%,通过低甲基化驱动癌症不稳定性。血浆DNA中长散在核元件甲基化改变的检测(DIAMOND)检测法,通过对游离DNA进行亚硫酸氢盐测序来靶向LINE-1低甲基化,在六种癌症类型中实现了88%至100%的曲线下面积(AUC),超过了基于突变的诊断方法,并表明其在早期癌症检测和管理中的效用。见米歇尔等人的相关文章,第1275页。

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