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Active, Not Recruiting

NCT Number: NCT03857594

Integrative Sequencing In Germline and Hereditary Tumours

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Hereditary Cancer Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Germline Mutation High-risk Mutation Neoplasms Neoplastic Syndromes, Hereditary

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

University Health Network

Toronto, Ontario, Canada

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Patients must be ≥18 years of age
  • 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:

  • Individuals with multiple primary malignancies
  • Families with a strong family history of cancer suggestive of a hereditary cancer syndrome
  • Young individuals with cancer (10 years earlier than the age of onset of sporadic cases) and no identified gene mutation
  • 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.

Treatment and study plan

Primary outcomes

  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 outcomes

  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

Sponsors and collaborators

Lead sponsor

University Health Network, Toronto

Other

Registry information

Acronym: INSIGHT

Important dates

Study start
2018
Primary completion
2026
Study completion
2026
First posted
Feb 28, 2019
Registry last updated
Dec 3, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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