DNA methylation as a universal biomarker.

DNA methylation as a universal biomarker.
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DOI:
10.1586/erm.10.17
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发表时间:
2010-05
影响因子:
5.1
通讯作者:
Levenson VV
Levenson VV
中科院分区:
医学3区
文献类型:
--
作者:
Levenson VV

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无细胞循环DNA不仅在其序列中携带肿瘤特异性变化,而且在某些富含GC的片段中还携带独特的表观遗传标记,即DNA甲基化。这些片段通常位于许多基因的启动子和第一外显子内,包括CpG岛。使用无细胞循环DNA分析DNA甲基化可以促进非常准确的生物标志物的开发,用于检测、诊断、预测对治疗的反应和预后结果。最近的数据表明,良性和炎性疾病在无细胞循环DNA中具有非常特异性的甲基化模式,这与同一器官的恶性肿瘤的模式不同。此外,已经检测到不同器官癌症的特定甲基化模式,因此对位点特异性癌症的鉴别诊断似乎是可行的。目前,癌症相关的应用占主导地位的领域,虽然甲基化为基础的生物标志物也可能用于其他疾病,包括神经退行性疾病和精神疾病。
Cell-free circulating DNA carries not only tumor-specific changes in its sequence but also distinctive epigenetic marks, namely DNA methylation, in certain GC-rich fragments. These fragments are usually located within the promoters and first exons of many genes, comprising CpG islands. Analysis of DNA methylation using cell-free circulating DNA can facilitate development of very accurate biomarkers for detection, diagnosis, prediction of response to therapy and prognosis of outcomes. Recent data suggest that benign and inflammatory diseases have very specific methylation patterns within cell-free circulating DNA, which are different from the pattern of a malignant tumor of the same organ. In addition, specific methylation patterns have been detected for cancers of different organs, so a differential diagnosis of site-specific cancer appears feasible. Currently, cancer-related applications dominate the field, although methylation-based biomarkers may also be possible for other diseases, including neurodegenerative and psychiatric disorders.
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