The promise of circulating tumor DNA

A potential future alternative to invasive tissue biopsies

Circulating Tumor DNA Sequencing

Cell-free circulating tumor DNA (ctDNA) can act as a noninvasive cancer biomarker, offering a potential alternative to invasive tissue biopsies. Translational cancer researchers are investigating the use of liquid biopsies to detect ctDNA from tumors.1 In the future, ctDNA sequencing could potentially serve as a noninvasive approach for real-time monitoring of treatment response and identifying candidates for therapy.2

Next-generation sequencing (NGS) offers the sensitivity and specificity that researchers need to detect low levels of ctDNA in the bloodstream. In addition to targeting a single gene or a subset of genes, NGS can also identify genome-wide tumor-derived alterations in ctDNA.

Traditionally, serum-based proteins have been used as cancer biomarkers, but this method has limited utility, as it does not provide information about driver mutations or tumor heterogeneity.1 Somatic mutations in tumor DNA offer a much more specific and accurate biomarker.

The advent of NGS and increased knowledge of genomic alterations associated with cancer are making it feasible to identify rare somatic mutations sensitively and accurately.

Learn more about the benefits of NGS for liquid biopsy applications in cancer research. Understand the advantages of liquid biopsies over solid tissue biopsies, and explore common molecular technologies used to analyze ctDNA.

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ctDNA Analysis Samples

In the future, circulating tumor DNA sequencing might play a role in cancer diagnosis, prognosis, and measuring treatment response.

The Future Potential of ctDNA Sequencing in Cancer
Companion Diagnostics
  • Identify actionable alterations in tumors without an invasive biopsy
  • Measure tumor heterogeneity
Monitoring for Therapeutic Response
  • Determine treatment efficacy
  • Test for new actionable alterations
Monitoring for Residual Disease
  • Assess remission or progression
  • Determine presence of disease with no prior evidence

ctDNA Sequencing Research Articles

Variant Data from Blood
Analyzing Exosomal DNA from Pancreatic Cancer Samples

NGS analysis of exosomal DNA found in the blood of pancreatic cancer subjects gives researchers insight into the potential of liquid biopsies.

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Nucleosome Patterns
Searching for Cancer Driver Gene Expression Clues in ctDNA

Whole-genome sequencing of ctDNA samples enables researchers to analyze nucleosome patterns and infer the gene expression status of cancer driver genes.

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Liquid Biopsy Sample
The Power and Promise of Liquid Biopsies

Dr. Phil Febbo, Chief Medical Officer at Illumina, discusses the future potential of liquid biopsies and circulating tumor DNA analysis.

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According to Professor Jo Vandesompele, PhD, DNA-based liquid biopsy sequencing is growing rapidly for cancer applications. He also sees significant growth opportunities for RNA analysis. He discusses ongoing research aimed at deciphering the role of long non-coding RNA in cancer.   

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Deciphering the Role of Long Non-Coding RNA in Cancer
TruSight Oncology 500 ctDNA

Assay targeting multiple somatic variant types from plasma, including tumor mutational burden and microsatellite instability.

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TruSight Oncology UMI Reagents

These unique molecular identifiers reduce background noise in sequencing data, enabling detection of low-frequency variants.

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NovaSeq 6000 System

Combines scalable throughput, speed, and flexibility for virtually any sequencing method, genome, and scale of project.

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Cancer RNA Sequencing

This method provides functional information about cancer gene expression and the gene fusions that drive tumor progression.

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Somatic Mutation Analysis

NGS offers high sensitivity, ease of use, and accurate data quality for identifying even rare mutations successfully.

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Pan-Cancer Analysis

Expert-defined pan-cancer NGS panels can comprehensively assesses gene variants and abnormalities associated with many common cancers, regardless of tumor origin.

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ctDNA and Noninvasive Prenatal Screening

Scientists detected indications of maternal malignancies by analyzing cell-free DNA.

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Detecting ctDNA in Early- and Late-Stage Human Malignancies

Bettegowda et al. demonstrate the use of ctDNA as a cancer biomarker in multiple tumor types.

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An Ultrasensitive Method for Quantitating ctDNA

Newman et al. introduce cancer personalized profiling by deep sequencing (CAPP-Seq) for quantifying ctDNA.

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Analysis of ctDNA as a Metastatic Breast Cancer Biomarker

Dawson et al. use ctDNA to monitor metastatic breast cancer.

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Drug Development
RNA Biomarkers for Drug Response

Find resources designed to help you adopt RNA-Seq for drug response RNA biomarker discovery and profiling.

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  1. Bettegowda C, Sausen M, Leary RJ, et al. Detection of circulating tumor DNA in early- and late-stage human malignancies. Sci Transl Med. 2014;6:224ra24.
  2. DeMartin T (2014) Gene Trek: Clinical Impacts of Next Generation Sequencing. AG Scientific (