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Risk of Breast Cancer and Hyperplastic Conditions in the Breast Cancer Serum Bank in Relation to Inherited Genetic Variants

15 Years
Not Enrolling
Breast Cancer

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Trial Information

Risk of Breast Cancer and Hyperplastic Conditions in the Breast Cancer Serum Bank in Relation to Inherited Genetic Variants

Prevention and treatment of intraepithelial neoplasia and benign pre-malignant conditions
has become an important focus of the NCI's 2015 goal of eliminating suffering and death due
to cancer, although very little is known about the factors that influence development of
frank malignancy in those with high risk benign/precursor conditions. The Radiation
Epidemiology and Biostatistics Branches of the NCI propose to evaluate the contribution of
inherited genetic variation to benign pre-malignant breast conditions, and to subsequent
breast cancer risk in women diagnosed with such conditions, in the Breast Cancer Serum Bank,
a unique biospecimen resource housed at NCI since 1995. Premenopausal participants (N=2632)
biopsied at an average age of 27 in 1977-1987, (many diagnosed with high risk benign breast
conditions (moderate/florid breast hyperplasia and atypia)) were interviewed and provided a
blood sample. Participant biopsy reports will be obtained for review and recoding, and
participants will be traced for vital status and breast cancer development (expected n = 240
cases). Variants in genes related to hormone metabolism and cell signaling, processes
implicated in the development of premalignant breast conditions, and in genes associated
with cell cycle control and apoptosis, and thus possibly related to progression to breast
cancer among women with premalignant breast conditions will be assessed at the NCI Central
Genotyping Facility. We have a remarkable opportunity in this study to address scientific
questions regarding breast carcinogenesis mechanisms at relatively little cost. Greater
comprehension of the influence of inherited factors on distinct steps in the biological
pathway, first from normal tissue to benign high risk breast tumors, and then hence the
breast cancer, should contribute to our understanding of the molecular mechanisms that shape
breast cancer development, and holds promise for the discovery and delivery of sound
risk-adapted interventions for women with high risk premalignant conditions.

Inclusion Criteria


Potentially eligible premenopausal women include 2636 who did not have a previous or
concurrent (within 60 days) diagnosis of breast cancer at the time of initial benign
breast biopsy (study entry) and who have at least 4 mls of serum stored in the Frederick

Of those 2636, four women have a code indicating "refused study" in the "follow-up"
variable, and despite evidence of their consent to the original study, will be omitted
from all future use of study data or specimens.

Participants also will be required to be Caucasian or African American (2599 or 98.6%),
and to have a pathology report successfully retrieved from a participating hospital for

All sample sizes subsequently cited in the text take these inclusion criteria into
account, and those cited for objective 2 also incorporate adjustment for loss to

Type of Study:


Study Design:



United States: Federal Government

Study ID:




Start Date:

December 2004

Completion Date:

Related Keywords:

  • Breast Cancer
  • Hyperplasia
  • Atypia
  • Polymorphism
  • Progression
  • Epidemiology
  • Breast Neoplasms



NCI Frederick Cancer Research Center Frederick, Maryland  21702-1201