Integrative Sequencing In Germline and Hereditary Tumours

Official Title

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.

Trial Description

Primary Outcome:

  • Number of genomic contributors to inherited cancer through genome-wide germline analysis
  • Number of identified novel mechanisms of tumourigenesis in hereditary cancer patients
Secondary Outcome:
  • Utilization rate of whole genome sequencing of the germline in identifying hereditary disorders
  • Utilization rate of genome scale/targeted analysis of tumours in identifying potential therapeutic modalities

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Canadian Cancer Society

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