Assessment of Digital PCR as a Primary Reference Measurement Procedure to Support Advances in Precision Medicine
Assessment of Digital PCR as a Primary Reference Measurement Procedure to Support Advances in Precision Medicine
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DOI：
10.1373/clinchem.2017.285478
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发表时间：
2018-09-01
影响因子：
9.3
通讯作者：
Devonshire, Alison S.
中科院分区：
文献类型：
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作者：
Whale, Alexandra S.;Jones, Gerwyn M.;Devonshire, Alison S.
背景：对肿瘤组织和循环无细胞DNA进行体细胞变异的基因检测指导许多癌症的患者治疗。这种测量将是未来支持精准医疗的基础。然而，目前没有可用于核酸定量的主要参考测量程序，其将支持将循环肿瘤DNA的测试转化为常规使用。我们评估了数字PCR（dPCR）在结直肠癌中常见单核苷酸变异拷贝数定量的准确性结果：KRAS G12D和野生型质粒模板样品的浓度值随浓度的变化而变化。
BACKGROUND: Genetic testing of tumor tissue and circulating cell-free DNA for somatic variants guides patient treatment of many cancers. Such measurements will be fundamental in the future support of precision medicine. However, there are currently no primary reference measurement procedures available for nucleic acid quantification that would support translation of tests for circulating tumor DNA into routine use.METHODS: We assessed the accuracy of digital PCR(dPCR) for copy number quantification of a frequently occurring single-nucleotide variant in colorectal cancer (KRAS c.35G>A, p.Gly12Asp, from hereon termed G12D) by evaluating potential sources of uncertainty that influence dPCR measurement.RESULTS: Concentration values for samples of KRAS G12D and wild-type plasmid templates varied by