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Poster Display session 3

2283 - Prospective testing of circulating tumor DNA in metastatic breast cancer facilitates clinical trial enrollment and precision oncology


30 Sep 2019


Poster Display session 3


Translational Research

Tumour Site

Breast Cancer


Andjelija Bujak


Annals of Oncology (2019) 30 (suppl_5): v25-v54. 10.1093/annonc/mdz239


A.Z. Bujak1, C. Weng1, M. Silva2, M. Yeung1, L. Lo1, S. Ftouni1, C. Litchfield1, A. Ko1, K. Kuykhoven1, C. van Geelen1, S. Chandrashekar1, M.A. Dawson1, S. Loi1, S.Q. Wong1, S. Dawson1

Author affiliations

  • 1 Cancer Research, Peter MacCallum Cancer Center, 3000 - Melbourne/AU
  • 2 Cancer Research, Peter MacCallum Cancer Center, 3000 - Melbourne/PT


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Abstract 2283


The increasing availability of targeted agents for treatment of metastatic breast cancer (mBC) necessitates accurate and timely molecular characterisation of disease. As a minimally invasive test, circulating tumour DNA (ctDNA) is well positioned to overcome many of the limitations associated with traditional tumor biopsies. Here, we established a program to assess the feasibility of routine prospective ctDNA testing for the clinical management of mBC patients.


Detection of somatic mutations from patient plasma was performed using a multiplexed droplet digital PCR (ddPCR) approach to identify hotspot mutations in PIK3CA, ESR1, ERBB2 and AKT1. In parallel, a subset of samples were also analysed via next generation sequencing (targeted amplicon (TA) sequencing and low-coverage whole-genome sequencing). Results were discussed at a multidisciplinary breast cancer meeting prior to therapy selection.


234 mBC patients were enrolled on this study, with a median age at diagnosis of 54 years (28-80) and a median of 2 lines of prior therapy. The average turnaround time for ctDNA testing using ddPCR was 9 days (1-49). Using ddPCR, 80/234 (34.2%) patients had ≥1 mutation identified, with 52/234 (22.2%) patients having an alteration in PIK3CA, 35/234 (15.0%) in ESR1, 9/234 (3.8%) in AKT1 and 2/234 (0.9%) in ERBB2. TA sequencing performed in the first 159 patients, identified actionable mutations (classified using the OncoKB database) in 63 patients (39.6%) and showed that a mean variant allele fraction of > 5% was significantly associated with inferior overall survival (Hazard ratio: 1.8; 95% Confidence interval: 1.1-3.1; p < 0.02). Of 97/234 patients where an actionable alteration was identified, the result influenced clinical management in 41 (42.3%), including 18 who were enrolled in a clinical trial. In one patient initially diagnosed with ER+/HER2- disease, a HER2 gene amplification was identified through ctDNA analysis leading to the initiation of HER2-targeted treatment and a near complete metabolic response to treatment.


Prospective ctDNA testing of mBC patients is a practical and feasible approach to guide clinical trial enrolment and patient management.

Clinical trial identification

Editorial acknowledgement

Legal entity responsible for the study

The authors.


National Health and Medical Research Council Australia.


S.Q. Wong: Travel / Accommodation / Expenses: Bio-Rad Laboratories. S. Dawson: Research grant / Funding (self): Genentech. All other authors have declared no conflicts of interest.

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