Genetic Modifiers of BRCA1/BRCA2-Related Breast Cancer Risk in BRCA1/BRCA2 Mutation Carriers - CIMBA 5
18 Years
80 Years
Female
brca1 Mutation Carrier, brca2 Mutation Carrier, Breast Cancer
Trial Information
Genetic Modifiers of BRCA1/BRCA2-Related Breast Cancer Risk in BRCA1/BRCA2 Mutation Carriers - CIMBA 5
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.
Inclusion Criteria
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
Type of Study:
Observational
Study Design:
N/A
Outcome Measure:
Identification of potential genetic modifiers of breast cancer risk
Safety Issue:
No
Principal Investigator
Mark H. Greene, MD
Investigator Role:
Study Chair
Investigator Affiliation:
Clinical Genetics Branch
Authority:
Unspecified
Study ID:
CDR0000598427
NCT ID:
NCT00897455
Start Date:
April 2008
Completion Date:
Related Keywords:
- brca1 Mutation Carrier
- brca2 Mutation Carrier
- Breast Cancer
- breast cancer
- BRCA1 mutation carrier
- BRCA2 mutation carrier
- Breast Neoplasms
Name | Location |
|---|---|
| Warren Grant Magnuson Clinical Center - NCI Clinical Trials Referral Office | Bethesda, Maryland 20892-1182 |
