Sensitive mutation detection in heterogeneous cancer specimens by massively parallel picoliter reactor sequencing.

Thomas, Roman K; Nickerson, Elizabeth; Simons, Jan F; Jänne, Pasi A; Tengs, Torstein; Yuza, Yuki; Garraway, Levi A; LaFramboise, Thomas et al. · Nat Med · 2006

basic_science · Level V

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Abstract

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.

Medical subject headings