Clinical and Laboratory Analysis of Familial Cancer
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.
研究概览
地位
条件
详细说明
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:
Participants must meet one of the following:
- Have been previously enrolled on the familial genetic analysis arm of NIH study 09-C-0079; OR
- Be family members of patients previously enrolled on the familial genetic analysis arm of 09-C-0079; OR
- Have a documented pathogenic germline APC promotor 1B variant from a CLIA approved laboratory.
- Participants must be 10 years of age or older
Design:
- This protocol was originally opened to continue same use of research that was approved under protocol 09-C-0079, to analyze the data for publication, and to provide participants with any results of clinical and analytic validity and clinical utility.
- In a subsequent amendment carriers of a germline APC promoter 1B variant will participate in a phenotyping assessment survey interview to assess the phenotype of Gastric Adenocarcinoma and Proximal Polypopsis of the Stomach (GAPPS).
研究类型
注册 (实际的)
联系人和位置
学习地点
-
-
Maryland
-
Bethesda、Maryland、美国、20892
- National Institutes of Health Clinical Center, 9000 Rockville Pike
-
-
参与标准
资格标准
适合学习的年龄
接受健康志愿者
有资格学习的性别
取样方法
研究人群
描述
- INCLUSION CRITERIA:
Participants must meet one of the following:
- Have been previously enrolled on the familial genetic analysis arm of NIH study 09-C-0079; OR
- Be family members of patients previously enrolled on the familial genetic analysis arm of 09-C-0079; OR
- Have a documented pathogenic germline APC promotor 1B variant from a CLIA approved laboratory.
- Participants must be 10 years of age or older
EXCLUSION CRITERIA:
Inability to provide informed consent.
学习计划
研究是如何设计的?
设计细节
- 观测模型:以家庭为基础
- 时间观点:横截面
队列和干预
团体/队列 |
---|
1
Patients who were enrolled on protocol 09-C-0079, or family members of patients who were enrolled on protocol 09-C-0079
|
2
Individuals found to harbor a germline APC promoter 1B variant not previously enrolled in Cohort l.
|
研究衡量的是什么?
主要结果指标
结果测量 |
措施说明 |
大体时间 |
---|---|---|
investigate relationship of familial genetic mutation to a particular cancer
大体时间:1 year
|
linkage analysis performed for familial clustering of malignant and pre-malignant disease in families
|
1 year
|
次要结果测量
结果测量 |
措施说明 |
大体时间 |
---|---|---|
To assess the phenotype of Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS)
大体时间:1-2 years
|
Descriptive statistics such as median, mean and standard deviation will be calculated for all continuous quantitative variables, including age of diagnosis, frequency and duration of symptoms and medication dosage.
Frequency data will be calculated for categorical variables.
|
1-2 years
|
合作者和调查者
调查人员
- 首席研究员:Kathleen Calzone, Ph.D.、National Cancer Institute (NCI)
出版物和有用的链接
研究记录日期
研究主要日期
学习开始 (实际的)
初级完成 (实际的)
研究完成 (实际的)
研究注册日期
首次提交
首先提交符合 QC 标准的
首次发布 (估计)
研究记录更新
最后更新发布 (实际的)
上次提交的符合 QC 标准的更新
最后验证
更多信息
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