Liquid biopsies: Genotyping circulating tumor DNA

Luis A. Diaz, Alberto Bardelli

Research output: Contribution to journalReview articlepeer-review

1237 Scopus citations


Genotyping tumor tissue in search of somatic genetic alterations for actionable information has become routine practice in clinical oncology. Although these sequence alterations are highly informative, sampling tumor tissue has significant inherent limitations; tumor tissue is a single snapshot in time, is subject to selection bias resulting from tumor heterogeneity, and can be difficult to obtain. Cell-free fragments of DNA are shed into the bloodstream by cells undergoing apoptosis or necrosis, and the load of circulating cell-free DNA (cfDNA) correlates with tumor staging and prognosis. Moreover, recent advances in the sensitivity and accuracy of DNA analysis have allowed for genotyping of cfDNA for somatic genomic alterations found in tumors. The ability to detect and quantify tumor mutations has proven effective in tracking tumor dynamics in real time as well as serving as a liquid biopsy that can be used for a variety of clinical and investigational applications not previously possible.

Original languageEnglish (US)
Pages (from-to)579-586
Number of pages8
JournalJournal of Clinical Oncology
Issue number6
StatePublished - Feb 20 2014
Externally publishedYes

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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