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

OBJECTIVES:

- 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.

DISEASE CHARACTERISTICS:

- 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

PATIENT CHARACTERISTICS:

- Menopausal status not specified

PRIOR CONCURRENT THERAPY:

- See Disease Characteristics