Circulating cell-free DNA in serum as a biomarker of colorectal cancer

Filho, Benisio Ferreira da Silva; Gurgel, Ana Pavla Almeida Diniz; Neto, Manoel Álvaro de Freitas Lins; Azevedo, D.A.; Freitas, Antônio Carlos de; Neto, Jacinto da Costa Silva; Silva, Luiz Antonio Ferreira

doi:10.1136/jclinpath-2013-201521

Cited by 38 publications

(32 citation statements)

References 30 publications

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“…In general, the levels are higher in mCRC patients than in healthy controls, as shown in Table 1 [15,20,47,58,[63][64][65][66][67][68][69][70][71][72]; and the levels have some correlation to stage as reported in a limited number of studies [15,41,68,73] in primary CRC. These findings give important biological information, and researchers suggest that cfDNA has potential as a diagnostic or screening tool; a potential that is currently being investigated by several groups.…”

Section: Methodsmentioning

confidence: 71%

“…Although the potential that lies in detection and measurement of the tumor-specific DNA has been established, the clinical value of total cfDNA quantification is still being debated. Only few studies take the total levels of cfDNA into consideration as a picture of the overall complex biology, but recently a series of studies reported a clear correlation between total cfDNA levels and mutated DNA [45,[54][55][56][57][58][59][60][61][62][63].…”

Section: Methodsmentioning

confidence: 99%

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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: Methodsmentioning

confidence: 71%

Section: Methodsmentioning

confidence: 99%

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

Spindler

2016

Acta Oncologica

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“…Other studies have shown that mutated circulating DNA may depend on tumor clonality, i.e. , whether the source is from tumor cells, tumor-associated stromal cells, or surrounding normal cells [157–163]. Methylation status of DNA in CRC has also been detected in colorectal tissues, stools, and peripheral blood.…”

Section: Neoplasmsmentioning

confidence: 99%

“…On the other hand, ALU247 and ALU247/ALU115-qPCR biomarkers may be important in detecting and monitoring CRC patients in both early and late stages. In addition, the accuracy of early stage detection of tumor increased when CCFDNA was used in combination with CEA measurement [24,163,172–174]. Other mutations that have been identified as clinically significant include microsatellite instability, BRAF , and SMAD4 [173,174].…”

Section: Neoplasmsmentioning

confidence: 99%

The Clinical Utilization of Circulating Cell Free DNA (CCFDNA) in Blood of Cancer Patients

Elshimali

Khaddour

Sarkissyan

et al. 2013

IJMS

211

158

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“…With the discovery of genetic aberrations that induce the initiation and progression of malignant tumors, the detection of specific mutations is increasingly being used as a biomarker to predict local recurrence. Moreover, the detection of genetic mutations, either as freely circulating tumor (ctDNA) or in circulating tumor cells (CTCs), has proven to be a promising tool to determine the early spread of cancer cells in the blood [5,6] . More recently, these so-called liquid biopsies have already shown promising results as genetic biomarkers to predict early recurrences in different cancer types [6][7][8] .…”

Section: Introductionmentioning

confidence: 99%

Liquid Biopsy: A Future Tool for Posttreatment Surveillance in Head and Neck Cancer?

Ginkel

Huibers²,

Noorlag

et al. 2016

Pathobiology

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The prognosis of head and neck squamous cell carcinoma (HNSCC) is largely based on disease stage. Despite improvements in treatment, recurrence rates are still considered high. Currently, disease progression or regression after curative treatment is monitored by clinical evaluation combined with flexible endoscopy and/or imaging. However, specificity of imaging is low due to the posttreatment effects. Detection of circulating tumor DNA (ctDNA) from blood samples of HNSCC patients is a minimally invasive technique that could lead to an earlier detection of recurrence. In addition, digital droplet PCR (ddPCR) could be used to sensitively detect these mutational targets. Future study on ctDNA using ddPCR in blood samples of HNSCC patients is recommended during the follow-up stage to detect recurrences in a timely manner.

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Circulating cell-free DNA in serum as a biomarker of colorectal cancer

Abstract: Thus, the ALU247 and ALU247/ALU115-qPCR biomarkers may be important in detecting and monitoring CRC patients in both early and late stages.

Cited by 38 publications

References 30 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

The Clinical Utilization of Circulating Cell Free DNA (CCFDNA) in Blood of Cancer Patients

Liquid Biopsy: A Future Tool for Posttreatment Surveillance in Head and Neck Cancer?

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