NCT03857594

Integrative Sequencing In Germline and Hereditary Tumours

• Status: Active Not Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 10 (estimated)
• Sponsor: University Health Network, Toronto · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Hereditary Cancer Syndrome
• High-Risk
• Mutation
• Germline Mutation

Timeline

• Start date: 2018-10-02
• Primary completion: 2026-09-01
• Completion: 2026-09-01
• First posted: 2019-02-28
• Last updated: 2025-12-03

Locations

1 site across 1 country: Canada