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Åke Borg

Åke Borg

Principal investigator

Åke Borg

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

Author

  • 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
Show all

Summary, in 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.

Department/s

  • Breastcancer-genetics
  • Surgery (Lund)
  • Tumor microenvironment
  • Neuroradiology
  • Diagnostic Radiology, (Lund)
  • BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation

Publishing year

2015

Language

English

Pages

1034-1047

Publication/Series

EMBO Molecular Medicine

Volume

7

Issue

8

Document type

Journal article

Publisher

Wiley-Blackwell

Topic

  • Cell and Molecular Biology

Status

Published

Project

  • Translational development and clinical applications of circulating tumor DNA for patient stratification, therapy guidance, and disease monitoring

Research group

  • Neuroradiology

ISBN/ISSN/Other

  • ISSN: 1757-4684