Genomic biomarkers for cancer detection

The promise of circulating tumor DNA as a noninvasive alternative to tissue biopsies

Noninvasive Cancer Biomarkers

Cell-free, circulating tumor DNA (ctDNA) can act as a noninvasive cancer biomarker, offering a potential alternative to invasive tissue biopsies. Today, researchers are investigating the use of ctDNA as a biomarker for detecting the presence of tumors in various cancer types.1 In the future, ctDNA 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 needed 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.

In the future, ctDNA might play a role in cancer diagnosis, prognosis, and measuring treatment response.

The Future of DNA Biomarkers in Cancer
Companion Diagnostics
  • Identify actionable alterations in tumors without 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
Presence of ctDNA as a Cancer Biomarker

Scientists detected indications of cancer by analyzing cell-free DNA.

Access PDF
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.

Read Paper
Interested in receiving newsletters, case studies, and information on cancer genomics?
Sign Up
An Ultrasensitive Method for Quantitating ctDNA

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

Read Paper
Analysis of ctDNA as a Metastatic Breast Cancer Biomarker

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

Read Paper
  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 (