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BRCA1 Haploinsufficiency and Gene Expression

NCT ID: NCT00597987

Last Updated: 2012-09-13

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

120 participants

Study Classification

OBSERVATIONAL

Study Start Date

2004-09-30

Study Completion Date

2012-09-30

Brief Summary

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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

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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

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BRCA1 Mutations

Keywords

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BRCA1

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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1

RNA samples

No interventions assigned to this group

Eligibility Criteria

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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.
Eligible Sex

FEMALE

Accepts Healthy Volunteers

Yes

Sponsors

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Memorial Health University Medical Center

OTHER

Sponsor Role collaborator

Memorial Sloan Kettering Cancer Center

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Tari King, MD

Role: PRINCIPAL_INVESTIGATOR

Memorial Sloan Kettering Cancer Center

Locations

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Memorial Sloan Kettering Cancer Center

New York, New York, United States

Site Status

Countries

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United States

Related Links

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http://www.mskcc.org

Memorial Sloan-Kettering Cancer Center

Other Identifiers

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04-045

Identifier Type: -

Identifier Source: org_study_id