Multiplex Preamplification of Serum DNA to Facilitate Reliable Detection of Extremely Rare Cancer Mutations in Circulating DNA by Digital PCR
Multiplex Preamplification of Serum DNA to Facilitate Reliable Detection of Extremely Rare Cancer Mutations in Circulating DNA by Digital PCR
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DOI：
10.1016/j.jmoldx.2015.10.004
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发表时间：
2016-03-01
影响因子：
4.1
通讯作者：
Godfrey, Tony E.
中科院分区：
文献类型：
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作者：
Jackson, Jennifer B.;Choi, Daniel S.;Godfrey, Tony E.
肿瘤特异性突变可以在血浆或血清中的循环无细胞DNA中鉴定，并可作为活检的临床相关替代方法。然而，检测血浆中的肿瘤特异性突变在技术上具有挑战性。首先，突变等位基因分数通常在野生型循环、无细胞DNA的大背景中较低。其次，从血浆中获得的循环无细胞DNA的量也很低。即使使用数字PCR（dPCR），罕见突变检测也具有挑战性，因为没有足够的循环无细胞DNA来运行技术重复，并且测定或仪器噪声不容易允许突变检测
Tumor-specific mutations can be identified in circulating, cell-free DNA in plasma or serum and may serve as a clinically relevant alternative to biopsy. Detection of tumor-specific mutations in the plasma, however, is technically challenging. First, mutant allele fractions are typically low in a large background of wild-type circulating, cell-free DNA. Second, the amount of circulating, cell-free DNA acquired from plasma is also low. Even when using digital PCR (dPCR), rare mutation detection is challenging because there is not enough circulating, cell-free DNA to run technical replicates and assay or instrument noise does not easily allow for mutation detection