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

Genetic Modifiers of BRCA1/BRCA2-Related Breast Cancer Risk in BRCA1/BRCA2 Mutation Carriers

This research study is looking at breast cancer risk in women who are BRCA1/BRCA2 mutation carriers. Studying samples of DNA in the laboratory from women who are BRCA1/BRCA2 mutation carriers may help doctors identify biomarkers related to cancer.

Study Overview

• Status: Withdrawn
• Conditions: Breast Carcinoma; BRCA1 Mutation Carrier; BRCA2 Mutation Carrier
• Intervention / Treatment: Other: Laboratory Biomarker Analysis

Detailed Description

OBJECTIVE:

I. 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.

• Study Type: Observational

Contacts and Locations

Study Locations

• United States
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19103
      • Gynecologic Oncology Group

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 80 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Female

• Sampling Method: Probability Sample

Description

Inclusion Criteria:

• Women with or without a personal history of breast cancer prior to enrollment in Gynecologic Oncology Group (GOG)-0199

  • Known currently to be BRCA1/2 mutation carrier either by confirmed outside report or by research testing

    • No BRCA1/2 mutation-negative or mutation-unknown status

• Enrolled on clinical trial GOG-0199 AND meets the following criteria:

  • Completed baseline questionnaire (BQ-199)
  • Provided information on previous breast cancer history, including date of diagnosis
  • Provided complete data from the DNA analysis on the genetic variants of interest
• Available DNA samples for analysis
• Hormone receptor status not specified
• Pre- or post-menopausal status

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Intervention / Treatment

Ancillary-Correlative (biomarker sampling and analysis); 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., 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 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.

Other: Laboratory Biomarker Analysis; Correlative studies

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Identification of potential genetic modifiers of breast cancer risk	Up to 2 years

Collaborators and Investigators

• Sponsor: Gynecologic Oncology Group
• Collaborators: National Cancer Institute (NCI)
• Investigators: Principal Investigator: Mark Greene, Gynecologic Oncology Group

Study record dates

Study Major Dates

• Study Start: May 1, 2008
• Primary Completion (Actual): January 1, 2010

Study Registration Dates

• First Submitted: May 9, 2009
• First Submitted That Met QC Criteria: May 9, 2009
• First Posted (Estimate): May 12, 2009

Study Record Updates

• Last Update Posted (Actual): July 13, 2017
• Last Update Submitted That Met QC Criteria: July 11, 2017
• Last Verified: July 1, 2017

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Skin Diseases; Neoplasms; Neoplasms by Site; Breast Diseases; Breast Neoplasms
• Other Study ID Numbers: GOG-0246 (Other Identifier: CTEP); U10CA101165 (U.S. NIH Grant/Contract); NCI-2009-00608 (Registry Identifier: CTRP (Clinical Trial Reporting Program)); CDR0000590275