Integrative Sequencing In Germline and Hereditary Tumours (INSIGHT)

University Health Network, Toronto

Status: Active, not recruiting

Conditions: High-Risk; Hereditary Cancer Syndrome; Germline Mutation; Mutation

Study type: Observational

Funder types: Other

Identifiers

NCT03857594

INSIGHT

Details and patient eligibility

About

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.

Enrollment: 10 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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.

Trial design

10 participants in 1 patient group

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.