Clinical and Laboratory Analysis of Familial Cancer
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 19
- 试验地点
- 1
- 主要终点
- investigate relationship of familial genetic mutation to a particular cancer
研究概览
简要总结
Background:
DNA makes up the instruction book for people s cells. Cancer is a disease caused by DNA changes that build up and affect cell function. Researchers want to learn more about what may cause cancer by testing the DNA of people with the disease and their family members.
Objective:
To find DNA changes that may be inherited and may cause or influence whether a person gets cancer. To study families with clusters of cancer to find out if there is a DNA mutation specific to certain cancers.
Eligibility:
People 18 years of age and older who:
Participated in the familial genetic part of NIH study 09-C-0079, a previous study or had family members enrolled in this study
Design:
Participants may have been screened in the previous study. They will give permission for researchers to use their data and their tissue or blood samples collected in the study.
Participants may give blood samples.
At each stage of testing, participants will meet with a genetics health care provider. The provider will explain the tests and answer questions.
If researchers find a DNA change that might increase the risk for cancer or other health issues, they will confirm this result in a testing lab. This will require a blood sample.
Participants personal DNA data and health information will be put in a database for research purposes.
详细描述
Background:
- This study is to continue the analysis begun on 09C0079 which was focused on identification of the genetic mutation associated with a new gastric polyposis syndrome, Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS).
- GAPPS is an autosomal dominant gastric polyposis syndrome that confers a substantial risk for gastric adenocarcinoma and has been found to be associated with germline point variants in APC promoter 1B.
- At this time, any non-gastric phenotype associated with GAPPS is unknown and is being explored using a phenotyping survey interview.
Objective
- To specifically investigate families with clusters of cancer to determine if there is a potential familial genetic mutation specific to a particular cancer and if present, to compare these genetic abnormalities with individuals from the same family without cancer.
Eligibility:
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 10 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
investigate relationship of familial genetic mutation to a particular cancer
时间窗: 1 year
linkage analysis performed for familial clustering of malignant and pre-malignant disease in families
次要结局
- To assess the phenotype of Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS)(1-2 years)