Clinical and Laboratory Analysis of Familial Cancer
| Status: | Recruiting |
|---|---|
| Conditions: | Cancer, Cancer |
| Therapuetic Areas: | Oncology |
| Healthy: | No |
| Age Range: | 18 - 99 |
| Updated: | 4/6/2019 |
| Start Date: | September 28, 2015 |
| End Date: | October 31, 2019 |
| Contact: | Maureen F Connolly |
| Email: | maureen.connolly@nih.gov |
| Phone: | (240) 858-3734 |
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.
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.
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 which could include individuals who are pregnant; OR
- Have a documented pathogenic germline APC promotor 1B variant from a CLIA approved
laboratory.
- Participants must be 18 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).
- 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 which could include individuals who are pregnant; OR
- Have a documented pathogenic germline APC promotor 1B variant from a CLIA approved
laboratory.
- Participants must be 18 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).
- 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 which could include individuals who are pregnant; OR
- Have a documented pathogenic germline APC promotor 1B variant from a CLIA
approved laboratory.
- Participants must be 18 years of age or older
EXCLUSION CRITERIA:
Inability to provide informed consent.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
Phone: 888-624-1937
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