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.

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.

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

Substances

  • DNA, Neoplasm