Cell-free DNA in Hereditary And High-Risk Malignancies

Official Title

Early Detection of Cancer in High-risk Patients Through Cell-free DNA


The goal of this study is to develop an effective, sensitive blood test that can detect early tumours in patients with known or suspected hereditary cancer syndromes (HCS). If this new blood test is accurate, it could be used to screen patients for cancer and allow for earlier cancer detection. The study will also use questionnaires and interviews to understand how patients feel about incorporating these tests into routine medical care, and the perceptions of the medical value of test results.

Trial Description

Primary Outcome:

  • Collection of biospecimens from 1500 HSC carriers.
  • Collection of clinical data from 1500 HSC carriers.
  • Detection of early stage cancer in HCS patients using cfDNA.
  • Evaluation of the clinical utility of a cfDNA test for HSC patients.
  • Evaluation of the optimal implementation of cfDNA in clinical practice.
  • Evaluation of cfDNA test implementation through cost-effectiveness analysis of cfDNA versus standard of care.
The objective of this protocol is to develop a method to detect early signs of cancer in 'previvors' (people with HCS that do not yet have a cancer diagnosis). This will enable prediction of cancer onset so that patients and their doctors can make decisions to treat or prevent the cancers. HCS patients will be recruited from across Canada to provide blood samples before and after cancer diagnosis. In parallel, there will be development of a circulating tumour DNA (ctDNA) -based test to detect early stage cancer and evaluation on the cost-effectiveness and feasibility of integrating such screening protocols into routine clinical care. In concert, consultation with patients and health care providers will occur to create recommendations for use within clinical care.

View this trial on ClinicalTrials.gov

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Canadian Cancer Society

These resources are provided in partnership with the Canadian Cancer Society