TY - JOUR
T1 - Detection and Diagnostic Utilization of Cellular and Cell-Free Tumor DNA
AU - Dudley, Jonathan C.
AU - Diehn, Maximilian
N1 - Funding Information:
J.C.D. is the Gordon Family Physician-Scientist of the Damon Runyon Cancer Research Foundation (PST-27-20). This work was supported by the National Cancer Institute (R01CA188298, R01CA244526, and R01CA254179 to M.D.), the US National Institutes of Health Director’s New Innovator Award Program (1-DP2-CA186569 to M.D.), the Virginia and D.K. Ludwig Fund for Cancer Research (M.D.), the Bakewell Foundation (M.D.), and the CRK Faculty Scholar Fund (M.D.).
Publisher Copyright:
© 2021 Annual Reviews Inc.. All rights reserved.
PY - 2021/1/24
Y1 - 2021/1/24
N2 - 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.
AB - 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.
KW - Benign clonal expansions
KW - Cell-free DNA
KW - CfDNA
KW - Circulating tumor DNA
KW - CtDNA
KW - Molecular genetic pathology
KW - Next-generation sequencing
KW - Oncology
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U2 - 10.1146/annurev-pathmechdis-012419-032604
DO - 10.1146/annurev-pathmechdis-012419-032604
M3 - Review article
C2 - 33228464
AN - SCOPUS:85100253900
SN - 1553-4006
VL - 16
SP - 199
EP - 222
JO - Annual Review of Pathology: Mechanisms of Disease
JF - Annual Review of Pathology: Mechanisms of Disease
ER -