||5U01CA164920-07 Interpret this number
||Terry, Mary Beth
||Columbia University Health Sciences
||Breast Cancer Family Registry Cohort
The Breast Cancer Family Registry (BCFR) Cohort is a large and well-characterized international cohort of
multi-generational families that has been created for interdisciplinary collaborative research. Established in
1995 at six sites across the US, Canada and Australia, we recruited and followed 40,029 individuals (33,037
women and 6,992 men) from 15,056 families across the full spectrum of familial risk and/or genetic
predisposition. Through recruitment of multiple family members across generations, the BCFR Cohort is
unique from other cohorts of unrelated individuals, and has a wide range of absolute breast cancer risk, which
enables investigation of factors that modify breast cancer susceptibility and outcomes after diagnosis across
the spectrum of risk. The BCFR Cohort is also unique for its comprehensive biospecimen resources, including
cell lines for many participants complementing standard stored DNA, plasma and tissue samples. We have
followed individuals who were unaffected (n=27,671) and affected (n=12,358) with breast cancer at baseline
for up to 25 years (average length of follow-up = 15.2 and 16.1 years, respectively) and prospectively
ascertained 879 incident breast cancers and 863 second breast events, respectively. The overarching goal of
this application is to enrich the BCFR Cohort by building upon and enhancing the core infrastructure using
long-term prospective data collection and measurement of key markers to address novel hypotheses in cancer
etiology, survival and survivorship. We aim to answer questions on the role of life course accumulation of risk,
critical windows of exposure, and the factors underling the increase in breast cancer incidence in young
women. We propose to continue a systematic and coordinated approach across all six sites over the next five
years to: 1) enhance the BCFR Cohort by enrolling young women aged 18–39 years who are relatives of
enrolled family members and collecting detailed data on menstrual cycles, hormone exposure and physical
activity using mobile app technology; 2) retain and follow currently enrolled members of the BCFR Cohort
through another wave of follow-up questionnaires, and linkages to cancer and death registries; 3) create a big
data repository of multiple “omics” datasets (e.g., whole genome, serial digital mammograms); and 4) expand
the biospecimen resources, including collection of tissue and repeat blood samples. These activities will
include collection and updating of detailed risk factor, biospecimen, clinical, and outcome data through novel
approaches and technology (e.g., mobile app technologies, optical spectroscopy) and big data approaches.
With the addition of these components, we will continue to provide the research community an important and
unique family cohort to address cutting-edge research questions of clinical importance on cancer susceptibility,
survival and survivorship (e.g., risk assessment, identification of early detection markers, knowledge and
perception of risk). Through this resource, we envision a large platform for translational research that will
provide rigorous evidence on complex questions related to primary, secondary and tertiary prevention efforts.
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