Genetic Predisposition Testing Program for Pancreatic Neuroendocrine Neoplasms
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 300
- 试验地点
- 3
- 主要终点
- Rate of overall pathogenic germline mutations
研究概览
简要总结
This is a prospective observational multi-center pilot study of germline testing for participants receiving care at University of California participating locations with a new or existing diagnosis of Pancreatic Neuroendocrine Neoplasms (PanNEN). This protocol is an extension of existing Genetic Testing Station efforts at University of California, San Francisco (UCSF)
详细描述
PRIMARY OBJECTIVE:
I. To assess the frequency of germline mutations in patients with PanNEN.
SECONDARY OBJECTIVES:
I. To assess the rates of different types of germline mutations in patients PanNEN.
II. To assess the rates of different types of variants of uncertain significance in patients with PanNEN.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
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
- •Histologically confirmed PanNEN.
- •a. The diagnostic biopsy may have been taken from any site (primary or metastatic).
- •New and existing PanNEN participants will be eligible (any grade, any stage, any age > 18 years).
- •Participants willing and able to comply with the study procedures.
排除标准
- •Inability to provide informed consent.
- •For participants who have not had prior testing with a dedicated germline pane of at least 80 genes:
- •Inability to speak/read a language supported by the germline testing station (GTS). The supported languages currently include English, Korean, Japanese, Vietnamese, Russian, Tagalog, Farsi, Spanish, Cantonese, Mandarin, and Arabic).
- •Active hematologic malignancy.
- •History of allogenic bone marrow transplant or stem cell transplant.
研究组 & 干预措施
Participants with Pancreatic Neuroendocrine Neoplasms
干预措施: Hereditary Cancer Panel (Diagnostic Test)
结局指标
主要结局
Rate of overall pathogenic germline mutations
时间窗: Up to 2 years
The overall percentage of participants with pathogenic, or likely pathogenic germline mutations will be reported with 95% confidence intervals
次要结局
- Rate of declination for participants offered testing.(Up to 2 years)
- Rate of completion of testing(Up to 2 years)
- Rates of different types of pathogenic mutations(Up to 2 years)
- Rates of different types of variants of uncertain significance (VUS)(Up to 2 years)