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Studying Breast Cancer Risk in Women Who Are BRCA1/BRCA2 Mutation Carriers

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00897455
Recruitment Status : Unknown
Verified March 2011 by National Cancer Institute (NCI).
Recruitment status was:  Recruiting
First Posted : May 12, 2009
Last Update Posted : March 23, 2011
National Cancer Institute (NCI)
Information provided by:
National Cancer Institute (NCI)

Brief Summary:

RATIONALE: Studying samples of DNA in the laboratory from women who are BRCA1/BRCA2 mutation carriers may help doctors learn more about cancer and identify biomarkers related to cancer.

PURPOSE: This research study is looking at breast cancer risk in women who are BRCA1/BRCA2 mutation carriers.

Condition or disease Intervention/treatment
brca1 Mutation Carrier brca2 Mutation Carrier Breast Cancer Genetic: DNA analysis Genetic: mutation analysis Genetic: polymorphism analysis Other: laboratory biomarker analysis Procedure: evaluation of cancer risk factors

Detailed Description:


  • To identify potential genetic modifiers of breast cancer risk by contributing data and genetic information obtained from women who are BRCA1/BRCA2 mutation carriers enrolled in clinical trial GOG-0199 to an international consortium of clinical cancer genetics investigators (CIMBA).

OUTLINE: This is a multicenter study. Patients are stratified by study, country of residence, ethnicity, and birth cohort. Joint analyses of BRCA1 and BRCA2 mutation carriers are further stratified by mutation.

Previously collected DNA samples are analyzed for genetic variants in selected candidate genes (rs16942 in BRCA1, rs2237060 in RAD50, "SNP3", and rs2241193 in IGFBP5). The single nucleotide polymorphism (SNP) data from this study and selected demographic, clinical, and epidemiological data obtained from the baseline questionnaire administered in the GOG-0199 study are submitted to the Consortium of Investigators of Modifiers of BRCA-Associated Cancer (CIMBA) Central Database. The epidemiological and SNP data contributed to the Central Database are then distributed to the investigators responsible for analysis of a particular SNP or set of SNPs from a candidate gene or genetic pathway.

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Study Type : Observational
Estimated Enrollment : 10000 participants
Official Title: Genetic Modifiers of BRCA1/BRCA2-Related Breast Cancer Risk in BRCA1/BRCA2 Mutation Carriers - CIMBA 5
Study Start Date : April 2008
Estimated Primary Completion Date : December 2009

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Breast Cancer

Primary Outcome Measures :
  1. Identification of potential genetic modifiers of breast cancer risk

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years to 80 Years   (Adult, Older Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No


  • Known positive BRCA1/BRCA2 mutation carrier
  • With or without a personal history of breast cancer prior to enrollment in clinical trial GOG-0199
  • Currently enrolled in clinical trial GOG-0199 AND meets the following criteria:

    • Completed baseline questionnaire (BQ-199)
    • Provided information on prior breast cancer history, including date of diagnosis
    • Provided complete data from the DNA analysis on the genetic variants of interest
    • Signed an approved informed consent and authorization permitting release of personal health information
  • Hormone receptor status not specified


  • Menopausal status not specified


  • See Disease Characteristics

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00897455

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United States, Maryland
Warren Grant Magnuson Clinical Center - NCI Clinical Trials Referral Office Recruiting
Bethesda, Maryland, United States, 20892-1182
Contact: Clinical Trials Office - Warren Grant Magnusen Clinical Center    888-NCI-1937      
Sponsors and Collaborators
Gynecologic Oncology Group
National Cancer Institute (NCI)
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Study Chair: Mark H. Greene, MD Clinical Genetics Branch
OverallOfficial: Michael Birrer, MD, PhD NCI - Cell and Cancer Biology Branch
OverallOfficial: Phuong Mai, MD Clinical Genetics Branch
Layout table for additonal information Identifier: NCT00897455    
Other Study ID Numbers: CDR0000598427
First Posted: May 12, 2009    Key Record Dates
Last Update Posted: March 23, 2011
Last Verified: March 2011
Keywords provided by National Cancer Institute (NCI):
breast cancer
BRCA1 mutation carrier
BRCA2 mutation carrier
Additional relevant MeSH terms:
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Breast Neoplasms
Neoplasms by Site
Breast Diseases
Skin Diseases