Breast Cancer Risk in Women Who Are BRCA1/BRCA2 Mutation Carriers
RATIONALE: Studying samples of DNA in the laboratory from women who are BRCA1/BRCA2 mutation carriers may help doctors identify biomarkers related to cancer.
PURPOSE: This research study is looking at breast cancer risk in women who are BRCA1/BRCA2 mutation carriers.
brca1 Mutation Carrier
brca2 Mutation Carrier
Genetic: DNA analysis
Genetic: mutation analysis
Genetic: polymorphism analysis
Other: laboratory biomarker analysis
Procedure: evaluation of cancer risk factors
|Official Title:||Genetic Modifiers of BRCA1/BRCA2-Related Breast Cancer Risk in BRCA1/BRCA2 Mutation Carriers|
- Identification of potential genetic modifiers of breast cancer risk [ Designated as safety issue: No ]
|Study Start Date:||May 2008|
|Primary Completion Date:||May 2009 (Final data collection date for primary outcome measure)|
- To identify potential genetic modifiers of breast cancer risk in women who are carriers of the breast cancer susceptibility genes, BRCA1/2, by collecting data and genetic information from GOG-0199 and contributing it to the Consortium of Investigators of Modifiers of BRCA-Associated Breast Cancer (CIMBA), an international consortium of clinical cancer genetics investigators.
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 and associated clinical information obtained from BRCA mutation-positive participants enrolled on GOG-0199 are studied. DNA samples are analyzed by mutation testing for variants (i.e., single nucleotide polymorphisms [SNPs]) in candidate genes of interest. Once genetic testing for a given set of variants has been completed, the coded laboratory data file is merged with selected demographic, clinical, and epidemiological data obtained from the GOG-0199 baseline questionnaire and submitted to the Consortium of Investigators of Modifiers of BRCA-Associated Breast Cancer (CIMBA) Central Database to analyze and publish the data. 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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT00899145
|Principal Investigator:||Philip J. DiSaia, MD||Gynecologic Oncology Group|