Integrative Sequencing In Germline and Hereditary Tumours

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Total Enrollment

10 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-10-02

Study Completion Date

2026-09-30

Brief Summary

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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.

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Detailed Description

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Conditions

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Hereditary Cancer Syndrome High-Risk Mutation Germline Mutation

Study Design

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Observational Model Type

COHORT

Study Time Perspective

OTHER

Study Groups

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Individuals at risk of hereditary cancer syndrome

All individuals at risk of a hereditary cancer syndrome with or without a known germline mutation from clinical genetic testing.

No interventions assigned to this group

Eligibility Criteria

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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.