Tumor DNA as a cancer biomarker through the lens of colorectal neoplasia A C

Joshua D. Cohen, Brenda Diergaarde, Nickolas Papadopoulos, Kenneth W. Kinzler, Robert E. Schoen

Research output: Contribution to journalArticlepeer-review


Biomarkers have a wide range of applications in the clinical management of cancer, including screening and therapeutic management. Tumor DNA released from neoplastic cells has become a particularly active area of cancer biomarker development due to the critical role somatic alterations play in the pathophysiology of cancer and the ability to assess released tumor DNA in accessible clinical samples, in particular blood (i.e., liquid biopsy). Many of the early applications of tumor DNA as a biomarker were pioneered in colorectal cancer due to its well-defined genetics and common occurrence, the effectiveness of early detection, and the availability of effective therapeutic options. Herein, in the context of colorectal cancer, we describe how the intended clinical application dictates desired biomarker test performance, how features of tumor DNA provide unique challenges and opportunities for biomarker development, and conclude with specific examples of clinical application of tumor DNA as a biomarker with particular emphasis on early detection.

Original languageEnglish (US)
Pages (from-to)2441-2453
Number of pages13
JournalCancer Epidemiology Biomarkers and Prevention
Issue number12
StatePublished - Dec 2020

ASJC Scopus subject areas

  • Epidemiology
  • Oncology


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