Genetic Modifiers of BRCA1/BRCA2-Related Breast Cancer Risk in BRCA1/BRCA2 Mutation Carriers
- 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.
Identification of potential genetic modifiers of breast cancer risk
Philip J. DiSaia, MD
Gynecologic Oncology Group
United States: Federal Government