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

IF 10.2 1区 医学 Q1 ONCOLOGY Clinical Cancer Research Pub Date : 2025-01-29 DOI:10.1158/1078-0432.ccr-24-4051
Jeffrey J. Szymanski, Pradeep S. Chauhan, Aadel A. Chaudhuri
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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.
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LINE-1逆转录转座子作为多种癌症早期检测的无细胞DNA生物标志物
LINE-1逆转录转座子,占基因组的17%,通过低甲基化驱动癌症的不稳定性。DIAMOND检测以LINE-1低甲基化为目标,对游离细胞DNA进行亚硫酸盐测序,在6种癌症类型中实现了88%至100%的auc,超越了基于突变的诊断,表明在早期癌症检测和管理方面的效用。
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来源期刊
Clinical Cancer Research
Clinical Cancer Research 医学-肿瘤学
CiteScore
20.10
自引率
1.70%
发文量
1207
审稿时长
2.1 months
期刊介绍: Clinical Cancer Research is a journal focusing on groundbreaking research in cancer, specifically in the areas where the laboratory and the clinic intersect. Our primary interest lies in clinical trials that investigate novel treatments, accompanied by research on pharmacology, molecular alterations, and biomarkers that can predict response or resistance to these treatments. Furthermore, we prioritize laboratory and animal studies that explore new drugs and targeted agents with the potential to advance to clinical trials. We also encourage research on targetable mechanisms of cancer development, progression, and metastasis.
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