Sensitive mutation detection in heterogeneous cancer specimens by massively parallel picoliter reactor sequencing
Sensitive mutation detection in heterogeneous cancer specimens by massively parallel picoliter reactor sequencing
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DOI：
10.1038/nm1437
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发表时间：
2006-07-01
期刊：
影响因子：
82.9
通讯作者：
Meyerson, Matthew
中科院分区：
文献类型：
--
作者：
Thomas, Roman K.;Nickerson, Elizabeth;Meyerson, Matthew
肿瘤活检中常规DNA测序的敏感性受到基质污染以及癌症内部遗传异质性的限制。在此，我们表明基于微反应器的焦磷酸测序能够通过对给定DNA片段的多个代表进行独立且平行的采样来检测罕见的癌症相关序列变异。因此，该技术能够促进对异质性癌症样本进行准确的分子诊断，并使患者能够被筛选以接受靶向癌症治疗。
The sensitivity of conventional DNA sequencing in tumor biopsies is limited by stromal contamination and by genetic heterogeneity within the cancer. Here, we show that microreactor-based pyrosequencing can detect rare cancer-associated sequence variations by independent and parallel sampling of multiple representatives of a given DNA fragment. This technology can thereby facilitate accurate molecular diagnosis of heterogeneous cancer specimens and enable patient selection for targeted cancer therapies.