The contribution of the 20th century discoveries on the circulating DNA as biomarkers for cancer screening

Alves, Gilda; Chantre, Mariana; Delmonico, Lucas

doi:10.1590/0001-3765202020200919

Cited by 2 publications

(2 citation statements)

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“…Circulating biomarkers detected in biofluids are represented by cell-free DNA and RNA (cfDNA and cfRNA), circulating tumor cells (CTCs), and extracellular vesicles (EVs). cfDNA and cfRNA are circulating nucleic acids usually derived from processes of cell death (e.g., apoptosis, necrosis, and autophagy) or active cellularsecretions, being released into biofluids in both physiological and pathological conditions; however, differences in amounts and genetic signatures are observed between these conditions [ 6 , 7 ]. CTCs are tumor cells in circulation detached from the primary tumor that are able to reach distant sites and thus facilitate the metastatic processes [ 8 , 9 ].…”

Section: Introductionmentioning

confidence: 99%

Clinical applications of liquid biopsy in HPV‐negative and HPV‐positive head and neck squamous cell carcinoma: advances and challenges

Chantre-Justino

Alves

Delmonico³

2022

Exploration of Targeted Anti-Tumor Therapy

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Head and neck squamous cell carcinomas (HNSCCs) represent the most common epithelial tumors that arise from mucosa of the oral cavity, pharynx, and larynx. The development of HNSCCs is usually associated with tobacco use, alcohol consumption, and human papillomavirus (HPV) infection. Most HNSCCs are diagnosed in advanced states, leading to a worse clinical outcome. Screening tests based on potential biomarkers associated with HNSCCs could improve this scenario. Liquid biopsy has emerged as a promising area of cancer investigation, offering a minimally invasive approach to track circulating biomarkers in body fluids that could potentially contribute to the diagnosis, predict prognosis, and monitor response to treatment. This review will discuss translational studies describing the clinical applications of liquid biopsy in HPV‐negative and HPV‐positive HNSCCs focused on circulating nucleic acids [cell-free DNA (cfDNA) and cell-free RNA (cfRNA)], circulating tumor cells (CTCs), and extracellular vesicles (EVs), which can be found in plasma, serum, and saliva.

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Section: Introductionmentioning

confidence: 99%

Clinical applications of liquid biopsy in HPV‐negative and HPV‐positive head and neck squamous cell carcinoma: advances and challenges

Chantre-Justino

Alves

Delmonico³

2022

Exploration of Targeted Anti-Tumor Therapy

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“…As an alternative to a tissue biopsy, the liquid biopsy is minimally invasive and can be easily acquired, thus often being used in clinical practice when a tumor sample is unavailable or difficult to obtain. The detection of circulating nucleic acids in human plasma was first described in 1948 ( 5 ). In recent years, liquid biopsy has achieved clinical utility for predicting the responsiveness of treatment, drug resistance, and disease recurrence through analyzing circulating tumor DNA (ctDNA) in blood samples.…”

Section: Introductionmentioning

confidence: 99%

Urine- and Blood-Based Molecular Profiling of Human Prostate Cancer

Chen

Jia

Xie³

et al. 2022

Front. Oncol.

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ObjectiveProstate cancer (PCa) is one of the most common malignant tumors, accounting for 20% of total tumors ranked first in males. PCa is usually asymptomatic at the early stage and the specificity of the current biomarkers for the detection of PCa is low. The present study evaluates circulating tumor DNA (ctDNA) in blood or urine, which can be used as biomarkers of PCa and the combination of these markers may increase the sensitivity and specificity of the detection of PCa.MethodsTissue, blood, and urine samples were collected from patients with PCa. All prostate tissue specimens underwent pathological examination. A hybrid-capture-based next-generation sequencing assay was used for plasma and urinary ctDNA profiling. Sequencing data were analyzed by an in-house pipeline for mutation calling. Mutational profiles of PCa and BPH were compared in both plasma and urine samples. Associations of detected mutations and clinical characteristics were statistically analyzed.ResultsA significant association of mutation allele frequencies (MAFs) in the blood samples with patients with metastatic PCa rather than patients with primary PCa, and MAFs are changed after treatment in patients with PCa. Further, the number of mutations in urine is not associated with clinical characteristics of PCa patients, but the frequencies of mutation alleles in the urine are associated with patient age. Comparison of cfDNA aberration profiles between urine and blood reveals more alterations in urine than in blood, including TP53, AR, ATM, MYC, and SPOP mutations.ConclusionThis work provides the potential clinical application of urine, in addition to blood, as a powerful and convenient non-invasive approach in personalized medicine for patients with PCa.

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The contribution of the 20th century discoveries on the circulating DNA as biomarkers for cancer screening

Cited by 2 publications

References 44 publications

Clinical applications of liquid biopsy in HPV‐negative and HPV‐positive head and neck squamous cell carcinoma: advances and challenges

Clinical applications of liquid biopsy in HPV‐negative and HPV‐positive head and neck squamous cell carcinoma: advances and challenges

Urine- and Blood-Based Molecular Profiling of Human Prostate Cancer

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