NCT03857594进行中（未招募）不适用
Integrative Sequencing In Germline and Hereditary Tumours
适应症
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 10
- 试验地点
- 1
- 主要终点
- Number of genomic contributors to inherited cancer through genome-wide germline analysis
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- 未提供
结局指标
主要结局
Number of genomic contributors to inherited cancer through genome-wide germline analysis
时间窗: Through study completion, up to 3 years
Number of identified novel mechanisms of tumorigenesis in hereditary cancer patients
时间窗: Through study completion, up to 3 years
次要结局
- Utilization rate of genome scale/targeted analysis of tumours in identifying potential therapeutic modalities(Through study completion, up to 3 years)
- Utilization rate of whole genome sequencing of the germline in identifying hereditary disorders(Through study completion, up to 3 years)
研究者
研究点 (1)
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