Mutation-based detection and monitoring of cell-free tumor DNA in peripheral blood of cancer patients

Benešová, Lucie; Belšánová, Barbora; Suchánek, Štěpán; Kopečková, Marta; Mináriková, Petra; Lipská, Ludmila; Levý, Miroslav; Visokai, V.; Zavoral, Miroslav; Minárik, Marek

doi:10.1016/j.ab.2012.06.018

Cited by 93 publications

(64 citation statements)

References 83 publications

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“…The same applies to the optimal collecting tube, where the use of anti-coagulants is favored, and it is largely agreed that the sampling procedure must be performed with great care to avoid cell lysis and contamination with DNA from normal blood cells [29]. In addition, there seems to be some consensus that a two-hour delay between sampling and blood processing is acceptable, whereas storage temperature seems less important [24,30,31]. In contrast, disagreement prevails regarding the centrifugation procedures in terms of the level of gravity (g) and regarding the use of one-or two-step procedures to ensure adequate separation and to avoid contamination and degradation prior to DNA purification and quantification procedures [24,31].…”

Section: Metastatic Colorectal Cancermentioning

confidence: 99%

Methodological, biological and clinical aspects of circulating free DNA in metastatic colorectal cancer

Spindler

2016

Acta Oncologica

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Background: Circulating DNA can be used to measure the total cell-free DNA (cfDNA) and for detection and quantification of tumor-specific genetic alterations in the peripheral blood, and the broad clinical potential of circulating DNA has attracted increasing focus over the past decade. Concentrations of circulating DNA are high in metastatic colorectal cancer (CRC), and the total levels of cfDNA have been reported to hold strong prognostic value. Colorectal tumors are characterized by a high frequency of well known, clinically relevant genetic alteration, which is readily detected in the cfDNA and holds potential for tailoring of palliative therapy and for monitoring during treatment. This review aims to present the current literature which has specifically reported data on the potential utility of cfDNA and on tumor-specific mutations in metastatic colorectal cancer (mCRC). Method: Methodological, biological and clinical aspects are discussed based on the most recent development in this specific setting, and eligible studies were identified by systematic literature searched from Pubmed and EMBASE in addition to conference papers and communications. Results: The literature regarding cfDNA in CRC is broad and heterogeneous concerning aims, nomenclature, methods, cohorts and clinical endpoints and consequently difficult to include in a single systematic search. However, the available data underline a strong clinical value of measuring both total cfDNA levels and tumor-specific mutations in the plasma of patients with mCRC, pre-and during systemic therapy. Conclusion: This paper had gathered the most recent literature on several aspects of cfDNA in mCRC, including methodological, biological and clinical aspects, and discussed the large clinical potential in this specific setting, which needs to be validated in carefully designed prospective studies in statistically relevant cohorts.

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Section: Metastatic Colorectal Cancermentioning

confidence: 99%

Methodological, biological and clinical aspects of circulating free DNA in metastatic colorectal cancer

Spindler

2016

Acta Oncologica

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“…To successfully detect the presence of ctDNA in plasma or serum, a suitable methodology needs to be selected. This consists of several essential steps: 1) processing collected blood while avoiding the rupture of blood cell membranes and subsequent plasma contamination with DNA derived from the blood cells nuclei; 2) select the most appropriate method to gain a sufficient amount of quality DNA for further analysis; 3) detection of ctDNA (through realtime PCR or digital PCR and NGS) [57]. cfDNA detection can be performed through two main methodologies: quantitative analysis and analysis based on DNA-specific mutation detection.…”

Section: Circulating Tumor Dna (Ctdna): Quantitative and Qualitative mentioning

confidence: 99%

“…DNA-specific mutation analysis in cfDNA is challenging due to the presence of high levels of wild-type DNA originating either from apoptotic or necrotic tissues. Nevertheless mutational studies can be performed using several methods, beginning from sequencing with limited sensitivity, through methods based on conformational changes and electrophoresis (e.g., denaturing capillary electrophoresis, DCE), alternatively increasing the mutant fraction by mutant-enriched PCR (ME-PCR), and opting for a dedicated approach such as "BEAMing" (beads, emulsion, amplification, and magnetics), digital PCR, or single-molecule sequencing [57]. In Table 2 there is an overview of the main techniques used for ctDNA analysis and their characteristics in terms of sensitivity and specificity.…”

Section: Circulating Tumor Dna (Ctdna): Quantitative and Qualitative mentioning

confidence: 99%

Liquid biopsies in lung cancer: The new ambrosia of researchers

Rolfo

Castiglia

Hong

et al. 2014

Biochimica et Biophysica Acta (BBA) - Reviews on Cancer

134

127

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In the last decades the approach to cancer patient management has been deeply revolutionized. We are moving from a "one-fits-all" strategy to the "personalized medicine" based on the molecular characterization of the tumor. In this new era it is becoming more and more clear that the monitoring of the disease is fundamental for the success of the treatment, thus there is the need of new biomarker discovery. More precisely in the last years the scientific community has started to use the term "liquid biopsy". A liquid biopsy is a liquid biomarker that can be easily isolated from many body fluids (blood, saliva, urine, ascites, pleural effusion, etc.) and, as well as a tissue biopsy, a representative of the tissue from which it is spread. In this review we will focus our attention on circulating tumor cells, circulating tumor DNA, exosomes and secretomes with the aim to underlie their usefulness and potential application in a clinical setting for lung cancer patient management.

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“…The application of ddPCR to the determination of haplotype frequencies can be used to assess recombination. Such applications of ddPCR are currently dramatically altering the detection and monitoring of residual disease in cancer and detection of breakthrough viral escape mutants following treatment [17][18][19][20][21][22].…”

Section: Discussionmentioning

confidence: 99%

Will droplet digital PCR become the test of choice for detecting and quantifying ocularChlamydia trachomatisinfection? Maybe

Burr

Bailey

Mabey

et al. 2014

Expert Review of Molecular Diagnostics

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Mutation-based detection and monitoring of cell-free tumor DNA in peripheral blood of cancer patients

Cited by 93 publications

References 83 publications

Methodological, biological and clinical aspects of circulating free DNA in metastatic colorectal cancer

Methodological, biological and clinical aspects of circulating free DNA in metastatic colorectal cancer

Liquid biopsies in lung cancer: The new ambrosia of researchers

Will droplet digital PCR become the test of choice for detecting and quantifying ocularChlamydia trachomatisinfection? Maybe

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