Clinical Trial: Genetics of Mammographic Appearances and Patterns (The GenMap Study)

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Genetics of Mammographic Appearances and Patterns (The GenMap Study)

Brief Summary:

High mammographic density (HMD) is the strongest risk factor for non-familial breast cancer apart from age and gender. Studies of sisters and twins suggest that approximately 67% of the variation in density is attributable to common genetic factors. However, to date, efforts to identify genetic determinants of HMD have achieved limited success. We and others (Boyd et al Lancet Oncol 2009) postulate that this lack of progress in identifying genetic determinants of density is related to a failure to study younger women and misclassification of density. As women age, their breast tissues undergo atrophy, which is manifested radiologically as a decrease in mammographic density, resulting in a convergence of density values and a masking of inter-person variation. This protocol is intended to demonstrate the feasibility of methods that we plan to use in a full-scale analysis of mammographic density among women under age 50 years who receive care at the University of Vermont, Fletcher Allen Health Care (FAHC) and have been followed through the Vermont Breast Cancer Surveillance System (VBCSS).

The Hormonal and Reproductive Epidemiology Branch (HREB) is currently conducting a cross-sectional study entitled, Breast Radiology Evaluation and Study of Tissues (BREAST) Stamp Project which aims to understand why mammographically dense tissues are related to elevated breast cancer risk. This project is being conducted within the VBCSS using breast cancer awareness Stamp Act funds. The BREAST Stamp project has focused on women between the ages of 40-65 years who were referred for radiologically-guided biopsy to evaluate an abnormality identified on a screening mammogram. The study has successfully enrolled over 400 women with collection of questionnaires, buccal and blood samples, and tissues. The study will continue recruiting through May 2010, with a targeted enrollment of 450-500 wome

Detailed Summary:

High mammographic density (HMD) is the strongest risk factor for non-familial breast cancer apart from age and gender. Studies of sisters and twins suggest that approximately 67% of the variation in density is attributable to common genetic factors. However, to date, efforts to identify genetic determinants of HMD have achieved limited success. We and others (Boyd et al Lancet Oncol 2009) postulate that this lack of progress in identifying genetic determinants of density is related to a failure to study younger women and misclassification of density. As women age, their breast tissues undergo atrophy, which is manifested radiologically as a decrease in mammographic density, resulting in a convergence of density values and a masking of inter-person variation. This protocol is intended to demonstrate the feasibility of methods that we plan to use in a full-scale analysis of mammographic density among women under age 50 years who receive care at the University of Vermont, Fletcher Allen Health Care (FAHC) and have been followed through the Vermont Breast Cancer Surveillance System (VBCSS).

The study capitalizes on infrastructure that has been established through the BREAST Stamp project that is being carried out in two phases: phase one is a feasibility study: specifically, we propose to demonstrate that we can use a mailing to collect Oragene tube format saliva collection kits as a source of germline DNA and a short self-administered questionnaire. We have completed the phase one feasibility portion of the protocol, which targeted 200 women by mail. As of January 25, 2011, of the 200 that were mailed invitations, 195 women were contacted (5 subjects forms were returned because of bad addresses), and 106 women enrolled. We are currently analyzing data from this feasibility study to determine participation rates, quality of completed questionnaires and saliva samples, and fre
Sponsor: National Cancer Institute (NCI)

Current Primary Outcome: Mammographic density [ Time Frame: At Screening ]

Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: National Institutes of Health Clinical Center (CC)

Dates:
Date Received: July 9, 2010
Date Started: June 15, 2010
Date Completion:
Last Updated: April 21, 2017
Last Verified: February 6, 2017