Studying Breast Cancer Risk in Women Who Are BRCA1/BRCA2 Mutation Carriers
brca1 Mutation Carrier - brca2 Mutation Carrier - Breast Cancer
Conditions: official terms
Breast Neoplasms
Conditions: Keywords
breast cancer, BRCA1 mutation carrier, BRCA2 mutation carrier
Study Type
Study Phase
Study Design
Name: DNA analysis Type: Genetic
Name: mutation analysis Type: Genetic
Name: polymorphism analysis Type: Genetic
Name: laboratory biomarker analysis Type: Other
Name: evaluation of cancer risk factors Type: Procedure
Overall Status
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.
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.
Criteria for eligibility
Healthy Volunteers: No
Maximum Age: 80 Years
Minimum Age: 18 Years
Gender: Female

- 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
Warren Grant Magnuson Clinical Center - NCI Clinical Trials Referral Office
Bethesda, Maryland, United States
Status: Recruiting
Contact: Clinical Trials Office - Warren Grant Magnusen Clinical Center - 888-NCI-1937
Start Date
April 2008
Gynecologic Oncology Group
National Cancer Institute (NCI)
Record processing date processed this data on July 28, 2015 page