Circulating Tumour DNA: A Blood Test for Monitoring Cancer
DOI:
https://doi.org/10.15173/m.v1i27.967Abstract
DNA fragments found in blood plasma, known as circulating tumour DNA (ctDNA), act novel biomarkers for cancer diagnosis. Through a simple blood draw, ctDNA allows for the genetic characterization of a patient’s cancer, which in turn can guide clinical decisions when prescribing a narrow spectrum chemotherapy drug. Current methods in cancer genotyping involve invasive biopsy resections which often compromise patient quality of life, are subject to issues regarding cell heterogeneity, make it difficult to detect secondary tumours, and often provide insufficient yields for genetic sequencing. Meanwhile, ctDNA allows clinicians and researchers alike to monitor the progression of a patient’s condition by prospectively collecting multiple blood samples. While not considered common clinical practice, ctDNA analysis has been successfully used to diagnose breast, gastric, colorectal, utero-ovarian, and lung cancers while clinical trials are currently being done for various others. Through ctDNA sequencing, clinicians are capable of characterizing a tumour in a non- invasive manner, consequently allowing them to deliver patient-specific cancer care.
References
Thomas F, Desmedt C, Aftimos P, Awada A. Impact of tumor sequencing on the use of anticancer drugs. Current Opinion in Oncology. 2014;26(3):347-356.
Overman M, Modak J, Kopetz S, Murthy R, Yao J, Hicks M et al. Use of Research Biopsies in Clinical Trials: Are Risks and Benefits Adequately Discussed? Journal of Clinical Oncology. 2012;31(1):17-22.
Mouliere F, Robert B, Arnau Peyrotte E, Del Rio M, Ychou M, Molina F et al. High Fragmentation Characterizes Tumour-Derived Circulating DNA. PLoS ONE. 2011;6(9):e23418.
Catarino R, Coelho A, Araújo A, Gomes M, Nogueira A, Lopes C et al. Circulating DNA: Diagnostic Tool and Predictive Marker for Overall Survival of NSCLC Patients. PLoS ONE. 2012;7(6):e38559.
Bozic I, Nowak M. Timing and heterogeneity of mutations associated with drug resistance in metastatic cancers. Proc Natl Acad Sci USA. 2014;111(45):15964-15968.
Gerlinger M, Rowan A, Horswell S, Larkin J, Endesfelder D, Gronroos E et al. Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing. New England Journal of Medicine. 2012;366(10):883-892.
Thomas F, Desmedt C, Aftimos P, Awada A. Impact of tumor sequencing on the use of anticancer drugs. Current Opinion in Oncology. 2014;26(3):347-356.
Overman M, Modak J, Kopetz S, Murthy R, Yao J, Hicks M et al. Use of Research Biopsies in Clinical Trials: Are Risks and Benefits Adequately Discussed?. Journal of Clinical Oncology. 2012;31(1):17-22.
Diaz L, Bardelli A. Liquid Biopsies: Genotyping Circulating Tumor DNA. Journal of Clinical Oncology. 2014;32(6):579-586.
Holdhoff M, Schmidt K, Donehower R, Diaz L. Analysis of Circulating Tumor DNA to Confirm Somatic KRAS Mutations. JNCI Journal of the National Cancer Institute. 2009;101(18):1284-1285.
Heitzer E, Ulz P, Geigl J. Circulating Tumor DNA as a Liquid Biopsy for Cancer. Clinical Chemistry. 2014;61(1):112-123.
Madhavan D, Wallwiener M, Bents K, Zucknick M, Nees J, Schott S et al. Plasma DNA integrity as a biomarker for primary and metastatic breast cancer and potential marker for early diagnosis. Breast Cancer Res Treat. 2014;146(1):163-174.
Choi J, Reich C, Pisetsky D. The role of macrophages in the in vitro generation of extracellular DNA from apoptotic and necrotic cells. Immunology. 2005;115(1):55-62.
Lebofsky R, Decraene C, Bernard V, Kamal M, Blin A, Leroy Q et al. Circulating tumor DNA as a non-invasive substitute to metastasis biopsy for tumor genotyping and personalized medicine in a prospective trial across all tumor types. Molecular Oncology. 2014.
Hamakawa T, Kukita Y, Kurokawa Y, Miyazaki Y, Takahashi T, Yamasaki M et al. Monitoring gastric cancer progression with circulating tumour DNA. British Journal of Cancer. 2014.
Lin P, Lin J, Lin C, Lin H, Yang S, Jiang J et al. Clinical Relevance of Plasma DNA Methylation in Colorectal Cancer Patients Identified by Using a Genome-Wide High-Resolution Array. Annals of Surgical Oncology. 2014.
Jin H, Ma Y, Shen Q, Wang X. Circulating Methylated DNA as Biomarkers for Cancer Detection. Methylation - From DNA, RNA and Histones to Diseases and Treatment. 2012.
