Hereditary Cancer SyndromeINSIGHTNCT03857594
Integrative Sequencing In Germline and Hereditary Tumours
An observational study of Hereditary Cancer Syndrome and High-Risk, run by University Health Network, Toronto at 1 site in Canada.
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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Hereditary Cancer Syndrome, High-Risk, Mutation
- How many people
- 10 participants
- Where
- 1 siteCanada
- Study dates
- 2 Oct 2018to Sep 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- None.
Trial locations and contacts
1 site in 1 country.
About this study
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:
- Whole genome sequencing (WGS) of the germline (inherited) genome
- Whole exome sequencing (WES) or targeted/panel sequencing of tumour(s) (somatic, tumour-specific mutations)
- DNA methylation (methylome) analysis of tumour(s)
- 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.
- Conditions
- Hereditary Cancer Syndrome, High-Risk, Mutation, Germline Mutation
- Keywords
- Hereditary Cancer Syndrome, High-Risk, Mutation, Germline Mutation, Rare Cancer Histology, Whole Genome Sequencing (WGS), Whole Exome Sequencing (WES)
- Medical subject headings
- Neoplastic Syndromes, Hereditary
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
Number of genomic contributors to inherited cancer through genome-wide germline analysis
Measured: Through study completion, up to 3 years
Number of identified novel mechanisms of tumorigenesis in hereditary cancer patients
Measured: Through study completion, up to 3 years
Secondary outcomes (2)
Utilization rate of whole genome sequencing of the germline in identifying hereditary disorders
Measured: Through study completion, up to 3 years
Utilization rate of genome scale/targeted analysis of tumours in identifying potential therapeutic modalities
Measured: Through study completion, up to 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Feb 2019
- Study start2 Oct 2018
- Primary completionSep 2026 (estimated)
- Study completionSep 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Hereditary Cancer SyndromeStudies of the same condition, open and under way.
- More trials run by University Health Network, TorontoThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 10 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Health Network, Toronto
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Raymond Kim, MD, Principal investigator, University Health Network, Toronto
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03857594
- Sponsor's protocol ID
- INSIGHT
- Acronym
- INSIGHT
- Status last verified
- Nov 2025
- First submitted
- 23 Oct 2018
- Last updated
- 3 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
Publications
Wang Y, Ding Q, Prokopec S, Farncombe KM, Bruce J, Casalino S, McCuaig J, Szybowska M, van Engelen K, Lerner-Ellis J, Pugh TJ, Kim RH. Germline whole genome sequencing in adults with multiple primary tumors. Fam Cancer. 2023 Oct;22(4):513-520. doi: 10.1007/s10689-023-00343-2. Epub 2023 Jul 22.
PubMed 37481477
Study at a glance
From the registry record, last updated by the sponsor on 3 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Integrative Sequencing In Germline and Hereditary Tumours
- ClinicalTrials.gov ID
- NCT03857594
- Acronym / sponsor ID
- INSIGHT / INSIGHT
- Conditions
- Hereditary Cancer Syndrome, High-Risk, Mutation, Germline Mutation
- Keywords
- Hereditary Cancer Syndrome, High-Risk, Mutation, Germline Mutation, Rare Cancer Histology, Whole Genome Sequencing (WGS), Whole Exome Sequencing (WES)
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 10 participants (estimated)
- Lead sponsor
- University Health Network, TorontoUniversity, hospital or other
- Study start
- 2 Oct 2018 (actual)
- Primary completion
- Sep 2026 (estimated)
- Study completion
- Sep 2026 (estimated)
- First posted
- 28 Feb 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- Whole genome sequencing (WGS) of the germline (inherited) genome
- Whole exome sequencing (WES) or targeted/panel sequencing of tumour(s) (somatic, tumour-specific mutations)
- DNA methylation (methylome) analysis of tumour(s)
- 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 design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (8 listed)
- 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
Key exclusion criteria (1 listed)
- None.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Number of genomic contributors to inherited cancer through genome-wide germline analysis
Time frame: 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
2 secondary outcomes
Utilization rate of whole genome sequencing of the germline in identifying hereditary disorders
Time frame: 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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Dec 2025.
- Derived from this study: PubMed 37481477Wang Y, Ding Q, Prokopec S, Farncombe KM, Bruce J, Casalino S, McCuaig J, Szybowska M, van Engelen K, Lerner-Ellis J, Pugh TJ, Kim RH. Germline whole genome sequencing in adults with multiple primary tumors. Fam Cancer. 2023 Oct;22(4):513-520. doi: 10.1007/s10689-023-00343-2. Epub 2023 Jul 22.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Raymond Kim, MD principal investigator
University Health Network, Toronto
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Cancer Syndrome and High-Risk, run by University Health Network, Toronto at 1 site in Canada.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 3 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of genomic contributors to inherited cancer through genome-wide germline analysis (time frame: Through study completion, up to 3 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03857594, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Dec 2025.