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

Nat Med. 2006 Jul;12(7):852-5. doi: 10.1038/nm1437. Epub 2006 Jun 25.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosome Mapping / methods*
  • DNA, Neoplasm / genetics*
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Neoplasms / diagnosis
  • Neoplasms / genetics*
  • Sensitivity and Specificity


  • DNA, Neoplasm