Detection and Diagnostic Utilization of Cellular and Cell-Free Tumor DNA

Author:

Dudley Jonathan C.1,Diehn Maximilian2

Affiliation:

1. Ludwig Center, Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA

2. Department of Radiation Oncology, Stanford Cancer Institute, and Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, California 94305, USA;

Abstract

Because cancer is caused by an accumulation of genetic mutations, mutant DNA released by tumors can be used as a highly specific biomarker for cancer. Although this principle was described decades ago, the advent and falling costs of next-generation sequencing have made the use of tumor DNA as a biomarker increasingly practical. This review surveys the use of cellular and cell-free DNA for the detection of cancer, with a focus on recent technological developments and applications to solid tumors. It covers ( a) key principles and technology enabling the highly sensitive detection of tumor DNA; ( b) assessment of tumor DNA in plasma, including for genotyping, minimal residual disease detection, and early detection of localized cancer; ( c) detection of tumor DNA in body cavity fluids, such as urine or cerebrospinal fluid; and ( d) challenges posed to the use of tumor DNA as a biomarker by the phenomenon of benign clonal expansions.

Publisher

Annual Reviews

Subject

Pathology and Forensic Medicine

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