Official Title
Integrative Sequencing In Germline and Hereditary Tumours
Brief Title
Integrative Sequencing In Germline and Hereditary Tumours
Protocol ID
NCT03857594
Lead Sponsor
University Health Network, Toronto
Brief Summary
This study will investigate the utility of integrative sequencing of individuals and
families at risk of hereditary cancer syndromes and will uncover novel contributors to
tumourigenesis. Integrative sequencing refers to:
1. Whole genome sequencing (WGS) of the germline (inherited) genome
2. Whole exome sequencing (WES) or targeted/panel sequencing of tumour(s) (somatic,
tumour-specific mutations)
3. DNA methylation (methylome) analysis of tumour(s)
4. RNA sequencing (transcriptome) of tumour(s)
Eligible patients receiving genetic care at Princess Margaret Cancer Centre and the
University Health Network may be approached by their genetic counsellor for participation
in this study.
Study Period
Enrollment Count
10 participants
Eligibility Criteria
Inclusion Criteria:
1. Patients must be ≥18 years of age
2. All patients and enrolled family members must have a signed and dated informed
consent form
All individuals at risk of a hereditary cancer syndrome without a known germline mutation
from clinical genetic testing, will be eligible for this study. This includes:
1. Individuals with multiple primary malignancies
2. Families with a strong family history of cancer suggestive of a hereditary cancer
syndrome
3. Young individuals with cancer (10 years earlier than the age of onset of sporadic
cases) and no identified gene mutation
4. Rare cancer histologies
Individuals with an identified germline mutation will also be eligible for this study, if
there are discordant family members suggesting additional genetic factors contributing to
the variable familial phenotype. For example, a family composed of mutation carriers
severely affected with cancers, and carriers unaffected with cancer.
Exclusion Criteria:
None.
Filters
Hereditary Cancer Syndrome
High-Risk
Mutation
Germline Mutation
ACTIVE_NOT_RECRUITING
ADULT
OLDER_ADULT