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Serial monitoring of circulating tumor DNA in patients with primary breast cancer for detection of occult metastatic disease.

  • Eleonor Olsson
  • Christof Winter
  • Anthony George
  • Yilun Chen
  • Jillian Howlin
  • Man-Hung Eric Tang
  • Malin Dahlgren
  • Ralph Schulz
  • Dorthe Grabau
  • Danielle van Westen
  • Mårten Fernö
  • Christian Ingvar
  • Carsten Rose
  • Pär-Ola Bendahl
  • Lisa Rydén
  • Åke Borg
  • Sofia Gruvberger
  • Helena Jernström
  • Lao Saal
Publishing year: 2015
Language: English
Pages: 1034-1047
Publication/Series: EMBO Molecular Medicine
Volume: 7
Issue: 8
Document type: Journal article
Publisher: Federation of European Neuroscience Societies and Blackwell Publishing Ltd

Abstract english

Metastatic breast cancer is usually diagnosed after becoming symptomatic, at which point it is rarely curable. Cell-free circulating tumor DNA (ctDNA) contains tumor-specific chromosomal rearrangements that may be interrogated in blood plasma. We evaluated serial monitoring of ctDNA for earlier detection of metastasis in a retrospective study of 20 patients diagnosed with primary breast cancer and long follow-up. Using an approach combining low-coverage whole-genome sequencing of primary tumors and quantification of tumor-specific rearrangements in plasma by droplet digital PCR, we identify for the first time that ctDNA monitoring is highly accurate for postsurgical discrimination between patients with (93%) and without (100%) eventual clinically detected recurrence. ctDNA-based detection preceded clinical detection of metastasis in 86% of patients with an average lead time of 11 months (range 0-37 months), whereas patients with long-term disease-free survival had undetectable ctDNA postoperatively. ctDNA quantity was predictive of poor survival. These findings establish the rationale for larger validation studies in early breast cancer to evaluate ctDNA as a monitoring tool for early metastasis detection, therapy modification, and to aid in avoidance of overtreatment.


  • Cell and Molecular Biology


  • CREATE Health
  • ISSN: 1757-4684
Åke Borg
Åke Borg
E-mail: ake [dot] borg [at] med [dot] lu [dot] se

Principal investigator

Oncology and Pathology, MV

+46 46 275 25 52

MV 404 C21B2


Project manager

Familial Breast Cancer



Oncology and Pathology, MV

MV 404 C21C2