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Genetics of Mammographic Appearances and Patterns (The GenMap Study)

30 Years
50 Years
Open (Enrolling)
High Mammographic Density, Breast Cancer

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Trial Information

Genetics of Mammographic Appearances and Patterns (The GenMap Study)

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(Registered Trademark) 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 frequencies and distributions of key risk factors and demographics
of participants. This collection of specimens and data will be used to inform the launch of
phase two, the full-scale study to identify determinants of mammographic volumetric density
among 10,000 women less than 50 years of age for whom raw images and density data are
already collected.

Inclusion Criteria


- Women who undergo screening in Vermont are asked about their willingness to
participate in research through the VBCSS.

- The phase one feasibility study will enroll women who have agreed to participate in
research and were below age 50 years at the time of their screening mammograms
between two time periods: February 1, 2008- February 29, 2008 and February 1, 2009-
February 28, 2009.

These periods were chosen because all mammograms performed during this interval were
performed using Hologic machines equipped with density phantoms as required for this
method and these time periods represent the first and second years of density data
collection. If the feasibility study proves successful, then phase two of the study will
enroll women who have agreed to participate in research and were below age 50 years at the
time of their screening mammograms between: February 1, 2008-present time.


-We will exclude women who at the time of their mammogram: had a prior history of breast
cancer, had an excisional breast biopsy within the prior year, had implants in place, or
had received non-surgical treatments (i.e., systemic therapies or radiation) for cancers
of other organs. We will also exclude women who are a participant in the current BREAST
Stamp Project.

Type of Study:


Study Design:

Time Perspective: Retrospective

Outcome Measure:

High mammographic density

Principal Investigator

Jonine Figueroa, Ph.D.

Investigator Role:

Principal Investigator

Investigator Affiliation:

National Cancer Institute (NCI)


United States: Federal Government

Study ID:




Start Date:

June 2010

Completion Date:

Related Keywords:

  • High Mammographic Density
  • Breast Cancer
  • Genetic Markers
  • Mammographic Density Screening
  • Breast Neoplasms



Vermont Cancer Center - Univ of VermontBurlington, Vermont