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Updated: Oct 11, 2025

Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
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Circulating Tumor DNA Profiling From Breast Cancer Screening Through to Metastatic Disease.

Karen Page1, Luke J Martinson1, Daniel Fernandez-Garcia1

  • 1Leicester Cancer Research Centre, University of Leicester, Leicester, United Kingdom.

JCO Precision Oncology
|December 1, 2021
PubMed
Summary

The Oncomine Breast cfDNA Assay detects circulating tumor DNA (ctDNA) across the breast cancer spectrum. Key mutations like ESR1, TP53, and PIK3CA in metastatic breast cancer (MBC) predict poor survival.

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Area of Science:

  • Oncology
  • Molecular Diagnostics
  • Genomics

Background:

  • Circulating tumor DNA (ctDNA) analysis is emerging as a powerful tool in oncology.
  • Accurate detection of ctDNA is crucial for early diagnosis, treatment selection, and monitoring of breast cancer.
  • The Oncomine Breast cfDNA Assay offers a potential solution for comprehensive genomic profiling of breast cancer from plasma samples.

Purpose of the Study:

  • To evaluate the utility of the Oncomine Breast cfDNA Assay for detecting ctDNA in a diverse breast cancer population.
  • To assess the assay's performance across different stages of breast cancer, from screening to advanced disease.
  • To identify specific gene mutations within ctDNA that correlate with prognosis and treatment resistance.

Main Methods:

  • Blood samples were collected from 373 women, including healthy controls and patients with various stages of breast cancer.
  • Plasma and germline DNA were extracted and analyzed using the Oncomine Breast cfDNA Assay on the Ion S5 platform.
  • Somatic variants were identified and correlated with clinical outcomes and cancer stage.

Main Results:

  • The assay detected ctDNA in 116 out of 373 plasma samples, with the highest detection rate in metastatic breast cancer (MBC) (55%).
  • Mutations in ESR1, TP53, and PIK3CA were the most frequently detected variants, accounting for 93% of all identified mutations.
  • These specific mutations were associated with poor overall survival in MBC patients (HR = 3.461, P = .001) and were more prevalent in MBC patients.

Conclusions:

  • The Oncomine Breast cfDNA Assay can detect ctDNA across the breast cancer continuum, including in advanced stages.
  • Detection of specific mutations (ESR1, TP53, PIK3CA) in ctDNA can serve as a prognostic marker for overall survival in MBC.
  • The assay may aid in monitoring treatment resistance, particularly ESR1 mutations, to guide adjuvant therapy selection, though caution is advised for single-sample interpretation due to low-level detection in healthy controls.