Integrative Sequencing In Germline and Hereditary Tumours (INSIGHT)

November 29, 2023 updated by: University Health Network, Toronto

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 Overview

Status

Active, not recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

10

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Canada
    • Ontario
      • Toronto, Ontario, Canada
        • University Health Network

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

All individuals at risk of a hereditary cancer syndrome with or without a known germline mutation. This includes individuals with multiple primary malignancies, families with a strong family history of cancer, young individuals with cancer, rare cancer histologies.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Number of genomic contributors to inherited cancer through genome-wide germline analysis
Time Frame: Through study completion, up to 3 years
Through study completion, up to 3 years
Number of identified novel mechanisms of tumorigenesis in hereditary cancer patients
Time Frame: Through study completion, up to 3 years
Through study completion, up to 3 years

Secondary Outcome Measures

Outcome Measure
Time Frame
Utilization rate of whole genome sequencing of the germline in identifying hereditary disorders
Time Frame: Through study completion, up to 3 years
Through study completion, up to 3 years
Utilization rate of genome scale/targeted analysis of tumours in identifying potential therapeutic modalities
Time Frame: Through study completion, up to 3 years
Through study completion, up to 3 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Health Network, Toronto

Investigators

  • Principal Investigator: Raymond Kim, MD, University Health Network, Toronto

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 2, 2018

Primary Completion (Estimated)

September 1, 2024

Study Completion (Estimated)

December 1, 2024

Study Registration Dates

First Submitted

October 23, 2018

First Submitted That Met QC Criteria

February 26, 2019

First Posted (Actual)

February 28, 2019

Study Record Updates

Last Update Posted (Actual)

November 30, 2023

Last Update Submitted That Met QC Criteria

November 29, 2023

Last Verified

November 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • INSIGHT

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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