Cell-free DNA in Hereditary And High-Risk Malignancies (CHARM)

University Health Network, Toronto

Status: Active, not recruiting

Conditions: Hereditary Cancer Syndrome

Treatments: Genetic: Next generation sequencing (NGS)

Study type: Observational

Funder types: Other

Identifiers

NCT04261972

1655

Details and patient eligibility

About

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.

Full description

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.

Enrollment: 1,416 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

1. Individual with any known or suspected hereditary cancer predisposition (i.e. individuals with an identified pathogenic or likely pathogenic variant in a cancer predisposition gene and/or a family history of cancer without an identified gene mutation) at any stage in their cancer journey (ie: cancer survivor, unaffected with cancer, current cancer patient).
2. Individual must be greater than 18 years of age
3. Individual must speak English or French to participate in the qualitative interview and/or survey

Exclusion criteria

1. Individuals that do not meet the outlined inclusion criteria.

Trial design

1,416 participants in 1 patient group

CHARM

Description:

Patients identified with hereditary breast and ovarian cancer syndrome (germline BRCA1 or BRCA2 carrier) or Lynch syndrome (germline variant in EPCAM, MLH1, MSH2, MSH6, or PMS2).

Treatment:

Genetic: Next generation sequencing (NGS)