Expired Study
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New York, New York 10065


Purpose:

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).


Study summary:

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.


Criteria:

Inclusion Criteria: 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. Exclusion Criteria: 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.


Study is Available At:


Original ID:

04-045


NCT ID:

NCT00597987


Secondary ID:


Study Acronym:


Brief Title:

BRCA1 Haploinsufficiency and Gene Expression


Official Title:

BRCA1 Haploinsufficiency and Gene Expression


Overall Status:

Completed


Study Phase:

N/A


Genders:

Female


Minimum Age:

N/A


Maximum Age:

N/A


Quick Facts

Healthy Volunteers
Oversight Has DMC
Study Is FDA Regulated
Study Is Section 801
Has Expanded Access

Study Source:

Memorial Sloan-Kettering Cancer Center


Oversight Authority:

United States: Institutional Review Board


Reasons Why Stopped:


Study Type:

Observational


Study Design:

Observational Model: Case Control, Time Perspecti


Number of Arms:

0


Number of Groups:

1


Total Enrollment:

120


Enrollment Type:

Actual


Overall Contact Information

Official Name:Tari King, MD
Principal Investigator
Memorial Sloan-Kettering Cancer Center

Study Dates

Start Date:September 2004
Completion Date:September 2012
Completion Type:Actual
Primary Completion Date:September 2012
Primary Completion Type:Actual
Verification Date:September 2012
Last Changed Date:September 12, 2012
First Received Date:January 9, 2008

Study Outcomes

Outcome Type: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
Safety Issues:False

Study Interventions

There are no available Study Interventions

Study Arms

Study Arm Type:Other
Arm Name:1
Description:RNA samples

Study Agencies

Agency Class:Other
Agency Type:Lead Sponsor
Agency Name:Memorial Sloan-Kettering Cancer Center
Agency Class:Other
Agency Type:Collaborator
Agency Name:Memorial Health University Medical Center

Samples and Retentions

Sample Retention:Samples With DNA
Description: 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.
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.
Sample Method:Non-Probability Sample

Study References

There are no available Study References

Data Source: ClinicalTrials.gov

Date Processed: January 21, 2020

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