Integrative Sequencing In Germline and Hereditary Tumours

Mutation Clinical Trial

— INSIGHT  

Official title:

Integrative Sequencing In Germline and Hereditary Tumours

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT03857594
• Other study ID #: INSIGHT
• Status: Active, not recruiting
• Start date: October 2, 2018
• Est. completion date: December 2024

Study information

• Verified date: November 2023
• Source: University Health Network, Toronto
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 10
• Est. completion date: December 2024
• Est. primary completion date: September 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Germline Mutation
• Hereditary Cancer Syndrome
• High-Risk
• Mutation
• Neoplastic Syndromes, Hereditary

Locations

Country	Name	City	State
Canada	University Health Network	Toronto	Ontario

Sponsors (1)

Lead Sponsor	Collaborator
University Health Network, Toronto

Country where clinical trial is conducted

Canada, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of genomic contributors to inherited cancer through genome-wide germline analysis		Through study completion, up to 3 years
Primary	Number of identified novel mechanisms of tumorigenesis in hereditary cancer patients		Through study completion, up to 3 years
Secondary	Utilization rate of whole genome sequencing of the germline in identifying hereditary disorders		Through study completion, up to 3 years
Secondary	Utilization rate of genome scale/targeted analysis of tumours in identifying potential therapeutic modalities		Through study completion, up to 3 years