Cell-free DNA in cancer: current insights

doi:10.1007/s13402-018-0413-5

Review

. 2019 Feb;42(1):13-28.

doi: 10.1007/s13402-018-0413-5. Epub 2018 Oct 26.

Cell-free DNA in cancer: current insights

Heidi Fettke¹, Edmond M Kwan^{2

3}, Arun A Azad^{2

3}

Affiliations

¹ Department of Medicine, School of Clinical Sciences, Monash University, Melbourne, Australia. Heidi.Fettke@monash.edu.
² Department of Medicine, School of Clinical Sciences, Monash University, Melbourne, Australia.
³ Department of Medical Oncology, Monash Health, Melbourne, Australia.

PMID: 30367445
DOI: 10.1007/s13402-018-0413-5

Review

Cell-free DNA in cancer: current insights

Heidi Fettke et al. Cell Oncol (Dordr). 2019 Feb.

. 2019 Feb;42(1):13-28.

doi: 10.1007/s13402-018-0413-5. Epub 2018 Oct 26.

Authors

Heidi Fettke¹, Edmond M Kwan^{2

3}, Arun A Azad^{2

3}

Affiliations

¹ Department of Medicine, School of Clinical Sciences, Monash University, Melbourne, Australia. Heidi.Fettke@monash.edu.
² Department of Medicine, School of Clinical Sciences, Monash University, Melbourne, Australia.
³ Department of Medical Oncology, Monash Health, Melbourne, Australia.

PMID: 30367445
DOI: 10.1007/s13402-018-0413-5

Abstract

Background: The field of liquid biopsies in oncology is rapidly expanding, with the application of cell-free circulating tumour DNA (ctDNA) showing promise in this era of precision medicine. Compared with traditional clinical and radiographic tumour monitoring methods, the analysis of ctDNA provides a minimally-invasive and technically feasible approach to assess temporal and spatial molecular evolutions of the tumour landscape. The constantly advancing technological platforms available for ctDNA extraction and analysis allow greater analytical sensitivities than ever before. The potential translational impact of ctDNA as a blood-based biomarker for the identification, characterization and monitoring of cancer has been demonstrated in numerous proof-of-concept studies, with ctDNA analysis beginning to be applied clinically across multiple facets of oncology.

Conclusions: In this review we discuss the biology, recent advancements, technical considerations and clinical implications of ctDNA in the context of cancer, and highlight important challenges and future directions for the integration of ctDNA into standardised patient care.

Keywords: Cell-free DNA; Circulating tumour DNA; cancer; liquid biopsy.

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References

1. M. Ilié, P. Hofman, Pros: Can tissue biopsy be replaced by liquid biopsy? Transl Lung Cancer Res 5, 420–423 (2016) - DOI - PubMed - PMC
1. N. Krishnamurthy, E. Spencer, A. Torkamani, L. Nicholson, Liquid biopsies for cancer: Coming to a patient near you. J Clin Med 6, 3 (2017) - DOI - PMC
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1. S.Q. Wong, J. Li, A.Y.C. Tan, R. Vedururu, J.-M.B. Pang, H. Do, J. Ellul, K. Doig, A. Bell, G.A. McArthur, S.B. Fox, D.M. Thomas, A. Fellowes, J.P. Parisot, A. Dobrovic, Sequence artefacts in a prospective series of formalin-fixed tumours tested for mutations in hotspot regions by massively parallel sequencing. BMC Med Genet 7, 23 (2014)

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[1] M. Ilié, P. Hofman, Pros: Can tissue biopsy be replaced by liquid biopsy? Transl Lung Cancer Res 5, 420–423 (2016) - DOI - PubMed - PMC

[2] M. Ilié, P. Hofman, Pros: Can tissue biopsy be replaced by liquid biopsy? Transl Lung Cancer Res 5, 420–423 (2016) - DOI - PubMed - PMC

[3] N. Krishnamurthy, E. Spencer, A. Torkamani, L. Nicholson, Liquid biopsies for cancer: Coming to a patient near you. J Clin Med 6, 3 (2017) - DOI - PMC

[4] N. Krishnamurthy, E. Spencer, A. Torkamani, L. Nicholson, Liquid biopsies for cancer: Coming to a patient near you. J Clin Med 6, 3 (2017) - DOI - PMC

[5] M.J. Overman, J. Modak, S. Kopetz, R. Murthy, J.C. Yao, M.E. Hicks, J.L. Abbruzzese, A.L. Tam, Use of research biopsies in clinical trials: Are risks and benefits adequately discussed? J Clin Oncol 31, 17–22 (2013) - DOI - PubMed

[6] M.J. Overman, J. Modak, S. Kopetz, R. Murthy, J.C. Yao, M.E. Hicks, J.L. Abbruzzese, A.L. Tam, Use of research biopsies in clinical trials: Are risks and benefits adequately discussed? J Clin Oncol 31, 17–22 (2013) - DOI - PubMed

[7] P.A. VanderLaan, N. Yamaguchi, E. Folch, D.H. Boucher, M.S. Kent, S.P. Gangadharan, A. Majid, M.A. Goldstein, M.S. Huberman, O.N. Kocher, D.B. Costa, Success and failure rates of tumor genotyping techniques in routine pathological samples with non-small-cell lung cancer. Lung Cancer 84, 39–44 (2014) - DOI - PubMed

[8] P.A. VanderLaan, N. Yamaguchi, E. Folch, D.H. Boucher, M.S. Kent, S.P. Gangadharan, A. Majid, M.A. Goldstein, M.S. Huberman, O.N. Kocher, D.B. Costa, Success and failure rates of tumor genotyping techniques in routine pathological samples with non-small-cell lung cancer. Lung Cancer 84, 39–44 (2014) - DOI - PubMed

[9] S.Q. Wong, J. Li, A.Y.C. Tan, R. Vedururu, J.-M.B. Pang, H. Do, J. Ellul, K. Doig, A. Bell, G.A. McArthur, S.B. Fox, D.M. Thomas, A. Fellowes, J.P. Parisot, A. Dobrovic, Sequence artefacts in a prospective series of formalin-fixed tumours tested for mutations in hotspot regions by massively parallel sequencing. BMC Med Genet 7, 23 (2014)

[10] S.Q. Wong, J. Li, A.Y.C. Tan, R. Vedururu, J.-M.B. Pang, H. Do, J. Ellul, K. Doig, A. Bell, G.A. McArthur, S.B. Fox, D.M. Thomas, A. Fellowes, J.P. Parisot, A. Dobrovic, Sequence artefacts in a prospective series of formalin-fixed tumours tested for mutations in hotspot regions by massively parallel sequencing. BMC Med Genet 7, 23 (2014)

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Cell-free DNA in cancer: current insights

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Cell-free DNA in cancer: current insights

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