Clinical trial · Observational
Integrative Sequencing In Germline and Hereditary Tumours
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (4)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Germline Mutation | — | UNRESOLVED | — |
| Hereditary Cancer Syndrome | — | UNRESOLVED | — |
| High-Risk | — | UNRESOLVED | — |
| Mutation | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (1)
- label
- Individuals at risk of hereditary cancer syndrome
- description
- All individuals at risk of a hereditary cancer syndrome with or without a known germline mutation from clinical genetic testing.
Primary outcomes (2)
- measure
- Number of genomic contributors to inherited cancer through genome-wide germline analysis
- timeFrame
- Through study completion, up to 3 years
- measure
- Number of identified novel mechanisms of tumorigenesis in hereditary cancer patients
- timeFrame
- Through study completion, up to 3 years
Secondary outcomes (2)
- measure
- Utilization rate of whole genome sequencing of the germline in identifying hereditary disorders
- timeFrame
- Through study completion, up to 3 years
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
Show eligibility criteria text
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.
References
Publications (1)
- DERIVEDWang 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. PMID 37481477