Widespread adaptation of liquid biopsy for the early detection of cancer has yet to reach clinical utility. Circulating tumor DNA is commonly detected though the presence of genetic alterations, but only a minor fraction of tumor-derived cell-free DNA (cfDNA) fragments exhibit mutations. The cellular processes occurring in cancer development mark the chromatin. These epigenetic marks are reflected by modifications in the cfDNA methylation, fragment size, and structure. In this review, we describe how going beyond DNA sequence information alone, by analyzing cfDNA epigenetic and immune signatures, boosts the potential of liquid biopsy for the early detection of cancer.

中文翻译：

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通过解码无细胞DNA的表观遗传学指纹和环境指纹，可以对癌症进行早期检测。

液体活检用于癌症的早期检测的广泛适应尚未达到临床实用性。尽管存在遗传变异，但通常可以检测到循环肿瘤DNA，但是只有一小部分肿瘤来源的无细胞DNA（cfDNA）片段会发生突变。发生在癌症发展过程中的细胞过程标记了染色质。这些表观遗传标记通过cfDNA甲基化，片段大小和结构的修饰反映出来。在这篇综述中，我们描述了如何通过分析cfDNA表观遗传学和免疫特征，超越DNA序列信息本身，如何增强液体活检在癌症早期发现方面的潜力。