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Integrative Sequencing In Germline and Hereditary Tumours (INSIGHT)

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ClinicalTrials.gov Identifier: NCT03857594
Recruitment Status : Recruiting
First Posted : February 28, 2019
Last Update Posted : February 28, 2019
Sponsor:
Information provided by (Responsible Party):
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.


Condition or disease
Hereditary Cancer Syndrome High-Risk Mutation Germline Mutation

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Study Type : Observational
Estimated Enrollment : 10 participants
Observational Model: Cohort
Time Perspective: Other
Official Title: Integrative Sequencing In Germline and Hereditary Tumours
Actual Study Start Date : October 2, 2018
Estimated Primary Completion Date : September 2021
Estimated Study Completion Date : September 2021

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.



Primary Outcome Measures :
  1. Number of genomic contributors to inherited cancer through genome-wide germline analysis [ Time Frame: Through study completion, up to 3 years ]
  2. Number of identified novel mechanisms of tumorigenesis in hereditary cancer patients [ Time Frame: Through study completion, up to 3 years ]

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

Biospecimen Retention:   Samples With DNA
Archival tumor tissue, whole blood at baseline for germ-line DNA analysis


Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
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.
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.


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03857594


Contacts
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Contact: Celeste Yu 416-946-4501 ext 5281 celeste.yu@uhn.ca
Contact: Samanta Del Rossi 416-946-4501 ext 2642 samanta.delrossi@uhn.ca

Locations
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Canada, Ontario
University Health Network Recruiting
Toronto, Ontario, Canada
Contact: Celeste Yu    416-946-4501 ext 5281    celeste.yu@uhn.ca   
Contact: Samanta Del Rossi    416-946-4501 ext 2642    samanta.delrossi@uhn.ca   
Principal Investigator: Raymond Kim, MD         
Sponsors and Collaborators
University Health Network, Toronto
Investigators
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Principal Investigator: Raymond Kim, MD University Health Network, Toronto

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Responsible Party: University Health Network, Toronto
ClinicalTrials.gov Identifier: NCT03857594     History of Changes
Other Study ID Numbers: INSIGHT
First Posted: February 28, 2019    Key Record Dates
Last Update Posted: February 28, 2019
Last Verified: February 2019

Keywords provided by University Health Network, Toronto:
Hereditary Cancer Syndrome
High-Risk
Mutation
Germline Mutation
Rare Cancer Histology
Whole Genome Sequencing (WGS)
Whole Exome Sequencing (WES)

Additional relevant MeSH terms:
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Neoplastic Syndromes, Hereditary
Neoplasms
Genetic Diseases, Inborn