BRCA1 MutationsNCT00597987
BRCA1 Haploinsufficiency and Gene Expression
An observational study of BRCA1 Mutations, run by Memorial Sloan Kettering Cancer Center at 1 site in United States.
Trial summary
The purpose of this study is to collect a blood sample from patients that may be used for research purposes. These blood samples will be used by researchers at this institution to study the causes of breast and ovarian cancer, and to better understand how these cancers develop. Read more about this study
- Who is it for?
- Any age, women onlyHealthy volunteers can take part
- Conditions the study is for
- BRCA1 Mutations
- How many people
- 120 participants
- Where
- 1 siteUnited States
- Study dates
- Sep 2004to Sep 2012
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- Women only
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: The study will be performed using lymphocyte RNA samples from 50 women with BRCA1 mutations and 50 age-matched controls without BRCA1 mutations. Class comparison analysis will be performed on the gene expression data.
Who may be able to join
- For acquisition of control specimens, samples already collected under IRB approved protocol 99-030 will be used. This protocol was a tissue and blood acquisition protocol entitled "Collection of Tissue, Blood, and Cells to Be Used for Studying the Causes, Prevention, Diagnosis, and Treatment of Breast Cancer". Patients have already given consent and signed a research authorization for to use their blood specimens for this purpose. Controls will also be collected from patients who have previously undergone genetic counseling through the Clinical Genetics Service at MSKCC and tested negative for a germline mutations in BRCA1. These individuals will be approached and asked to donate a sample at the time of their results appointment. Blood samples from cases will be collected from patients who have tested positive for a germline mutation in BRCA1. These women will have been participants in MSKCC protocols such as 96-51 and 97-29, or tested at outside institutions and receiving followup care at MSKCC. Any patient with a presumed pathogenic mutation in BRCA1 will be eligible for inclusion.
Who cannot join
- Subjects will be eligible without regard to age, racial, or ethnic status. Subjects with any personal history of cancer will be excluded. Attending physicians authorized to obtain informed consent may exercise discretion in excluding individuals for appropriate medical or other (e.g., minors, mentally impaired) reasons. Patients with an unclassified variant in BRCA1 will be excluded as the functional significance of these variations is unknown.
Trial locations and contacts
1 site in 1 country.
United States1 site
Memorial Sloan Kettering Cancer Center
New York, New York, 10065
About this study
The purpose of this study is to collect a blood sample from patients that may be used for research purposes. These blood samples will be used by researchers at this institution to study the causes of breast and ovarian cancer, and to better understand how these cancers develop. We are trying to discover differences in the ways cells work in women with a high genetic risk of developing breast or ovarian cancer. Early data suggest that some genes may be turned on or off in different ways based upon whether or not a woman has a high genetic risk of developing breast or ovarian cancer. The primary objective is to test the hypothesis that BRCA1 haploinsufficiency regulates gene expression on the X chromosome. This hypothesis will be tested by comparing the gene expression profiles of BRCA1 heterozygotes (cases) to an age-matched group of unaffected women who are not BRCA1 mutation carriers (controls).
Read the detailed description
The specific aim of this project is to test the hypothesis that BRCA1 haploinsufficiency regulates gene expression on the X chromosome. This hypothesis will be examined by determining if X chromosome gene expression profiles, derived from lymphocyte RNA, of BRCA1 mutation carriers (cases) can be distinguished from an age-matched group of women who do not have BRCA1 mutations (controls). Neither cases nor controls will have a history of cancer. This investigation will provide valuable insight into the biologic function of BRCA1 and its role in breast and/or ovarian tumorigenesis. Blood samples from cases will be collected from patients who have previously undergone genetic counseling through the Clinical Genetics Service at MSKCC and tested positive for a germline mutation in BRCA1. Blood samples from controls will be obtained from two sources.
First from specimens already collected under IRB Protocol #99-030, entitled "Collection of Tissue, Blood, and Cells to be Used for Studying the Causes, Prevention, Diagnosis, and Treatment of Breast Cancer (T. King, PI). Controls will also be collected from patients who have previously undergone genetic counseling through the Clinical Genetics Service at MSKCC and tested negative for germline mutations in BRCA1. Isolation of total RNA from blood will be performed using the PAXgene™ Blood RNA System. This study will use lymphocyte RNA samples from 50 individuals with BRCA1 mutations and 50 age-matched controls. Gene expression profiling will be performed in the Genomics Core Laboratory of MSKCC under the supervision of Agnes Viale, PhD. Class comparison analysis will be performed on the gene expression data in the Biostatistics Department under the supervision of Adam Olshen, PhD. It is anticipated that this study will be completed in approximately 1 year.
- Conditions
- BRCA1 Mutations
- Keywords
- BRCA1
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 1 | RNA samples |
What is being measured
The primary outcome is the main question the study is designed to answer.
The primary analysis of these data will be paired t-tests between the age-matched cases and controls for all genes on the X chromosome.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Jan 2008 (estimated)
- Study startSep 2004
- Primary completionSep 2012
- Study completionSep 2012
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for BRCA1 MutationsStudies of the same condition, open and under way.
- More trials run by Memorial Sloan Kettering Cancer CenterThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 120 participants (actual)
Sponsor and investigators
- Lead sponsor
- Memorial Sloan Kettering Cancer Center
- Sponsor type
- University, hospital or other
- Collaborators
- Memorial Health University Medical Center
- Responsible party
- Sponsor
- Investigators
- Tari King, MD, Principal investigator, Memorial Sloan Kettering Cancer Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00597987
- Sponsor's protocol ID
- 04-045
- Status last verified
- Sep 2012
- First submitted
- 9 Jan 2008
- Last updated
- 13 Sep 2012
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Sep 2012. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- BRCA1 Haploinsufficiency and Gene Expression
- ClinicalTrials.gov ID
- NCT00597987
- Acronym / sponsor ID
- 04-045
- Conditions
- BRCA1 Mutations
- Keywords
- BRCA1
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 120 participants (actual)
- Lead sponsor
- Memorial Sloan Kettering Cancer CenterUniversity, hospital or other
- Collaborators
- Memorial Health University Medical Center
- Study start
- Sep 2004
- Primary completion
- Sep 2012 (actual)
- Study completion
- Sep 2012 (actual)
- First posted
- 18 Jan 2008 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The purpose of this study is to collect a blood sample from patients that may be used for research purposes. These blood samples will be used by researchers at this institution to study the causes of breast and ovarian cancer, and to better understand how these cancers develop. We are trying to discover differences in the ways cells work in women with a high genetic risk of developing breast or ovarian cancer. Early data suggest that some genes may be turned on or off in different ways based upon whether or not a woman has a high genetic risk of developing breast or ovarian cancer. The primary objective is to test the hypothesis that BRCA1 haploinsufficiency regulates gene expression on the X chromosome. This hypothesis will be tested by comparing the gene expression profiles of BRCA1 heterozygotes (cases) to an age-matched group of unaffected women who are not BRCA1 mutation carriers (controls).
Detailed description
The specific aim of this project is to test the hypothesis that BRCA1 haploinsufficiency regulates gene expression on the X chromosome. This hypothesis will be examined by determining if X chromosome gene expression profiles, derived from lymphocyte RNA, of BRCA1 mutation carriers (cases) can be distinguished from an age-matched group of women who do not have BRCA1 mutations (controls). Neither cases nor controls will have a history of cancer. This investigation will provide valuable insight into the biologic function of BRCA1 and its role in breast and/or ovarian tumorigenesis. Blood samples from cases will be collected from patients who have previously undergone genetic counseling through the Clinical Genetics Service at MSKCC and tested positive for a germline mutation in BRCA1. Blood samples from controls will be obtained from two sources.
First from specimens already collected under IRB Protocol #99-030, entitled "Collection of Tissue, Blood, and Cells to be Used for Studying the Causes, Prevention, Diagnosis, and Treatment of Breast Cancer (T. King, PI). Controls will also be collected from patients who have previously undergone genetic counseling through the Clinical Genetics Service at MSKCC and tested negative for germline mutations in BRCA1. Isolation of total RNA from blood will be performed using the PAXgene™ Blood RNA System. This study will use lymphocyte RNA samples from 50 individuals with BRCA1 mutations and 50 age-matched controls. Gene expression profiling will be performed in the Genomics Core Laboratory of MSKCC under the supervision of Agnes Viale, PhD. Class comparison analysis will be performed on the gene expression data in the Biostatistics Department under the supervision of Adam Olshen, PhD. It is anticipated that this study will be completed in approximately 1 year.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 1 | – | –RNA samples |
Who may qualify
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The study will be performed using lymphocyte RNA samples from 50 women with BRCA1 mutations and 50 age-matched controls without BRCA1 mutations. Class comparison analysis will be performed on the gene expression data.
Key inclusion criteria (1 listed)
- For acquisition of control specimens, samples already collected under IRB approved protocol 99-030 will be used. This protocol was a tissue and blood acquisition protocol entitled "Collection of Tissue, Blood, and Cells to Be Used for Studying the Causes, Prevention, Diagnosis, and Treatment of Breast Cancer". Patients have already given consent and signed a research authorization for to use their blood specimens for this purpose. Controls will also be collected from patients who have previously undergone genetic counseling through the Clinical Genetics Service at MSKCC and tested negative for a germline mutations in BRCA1. These individuals will be approached and asked to donate a sample at the time of their results appointment. Blood samples from cases will be collected from patients who have tested positive for a germline mutation in BRCA1. These women will have been participants in MSKCC protocols such as 96-51 and 97-29, or tested at outside institutions and receiving followup care at MSKCC. Any patient with a presumed pathogenic mutation in BRCA1 will be eligible for inclusion.
Key exclusion criteria (1 listed)
- Subjects will be eligible without regard to age, racial, or ethnic status. Subjects with any personal history of cancer will be excluded. Attending physicians authorized to obtain informed consent may exercise discretion in excluding individuals for appropriate medical or other (e.g., minors, mentally impaired) reasons. Patients with an unclassified variant in BRCA1 will be excluded as the functional significance of these variations is unknown.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
The primary analysis of these data will be paired t-tests between the age-matched cases and controls for all genes on the X chromosome.
Time frame: 5 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Sep 2012.
- Memorial Sloan-Kettering Cancer CenterLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Tari King, MD principal investigator
Memorial Sloan Kettering Cancer Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of BRCA1 Mutations, run by Memorial Sloan Kettering Cancer Center at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 13 Sep 2012. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
The primary analysis of these data will be paired t-tests between the age-matched cases and controls for all genes on the X chromosome. (time frame: 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Sep 2012.