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The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer

Esther M John1, John L Hopper2, Jeanne C Beck3, Julia A Knight4, Susan L Neuhausen5, Ruby T Senie6, Argyrios Ziogas5, Irene L Andrulis7, Hoda Anton-Culver5, Norman Boyd8, Saundra S Buys9, Mary B Daly10, Frances P O'Malley11, Regina M Santella6, Melissa C Southey12, Vickie L Venne9, Deon J Venter12, Dee W West1, Alice S Whittemore13, Daniela Seminara14* and the Breast Cancer Family Registry

Author Affiliations

1 Northern California Cancer Center, Union City, California, USA

2 Center for Genetic Epidemiology, The University of Melbourne, Victoria, Australia

3 Coriell Institute for Medical Research, Camden, New Jersey, USA

4 Division of Epidemiology and Biostatistics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada

5 Division of Epidemiology, Department of Medicine, University of California Irvine, Irvine, California, USA

6 Mailman School of Public Health of Columbia University, New York, New York, USA

7 Fred A. Litwin Center for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada

8 Division of Epidemiology and Statistics, Ontario Cancer Institute, University Health Network, Toronto, Ontario, Canada

9 Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA

10 Fox Chase Cancer Center, Philadelphia, Pennsylvania, USA

11 Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada

12 Department of Pathology, The University of Melbourne, Victoria, Australia

13 Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California, USA

14 Clinical and Genetic Epidemiology Research Branch, Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, Maryland, USA

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Breast Cancer Res 2004, 6:R375-R389  doi:10.1186/bcr801

Published: 19 May 2004



The etiology of familial breast cancer is complex and involves genetic and environmental factors such as hormonal and lifestyle factors. Understanding familial aggregation is a key to understanding the causes of breast cancer and to facilitating the development of effective prevention and therapy. To address urgent research questions and to expedite the translation of research results to the clinical setting, the National Cancer Institute (USA) supported in 1995 the establishment of a novel research infrastructure, the Breast Cancer Family Registry, a collaboration of six academic and research institutions and their medical affiliates in the USA, Canada, and Australia.


The sites have developed core family history and epidemiology questionnaires, data dictionaries, and common protocols for biospecimen collection and processing and pathology review. An Informatics Center has been established to collate, manage, and distribute core data.


As of September 2003, 9116 population-based and 2834 clinic-based families have been enrolled, including 2346 families from minority populations. Epidemiology questionnaire data are available for 6779 affected probands (with a personal history of breast cancer), 4116 unaffected probands, and 16,526 relatives with or without a personal history of breast or ovarian cancer. The biospecimen repository contains blood or mouthwash samples for 6316 affected probands, 2966 unaffected probands, and 10,763 relatives, and tumor tissue samples for 4293 individuals.


This resource is available to internal and external researchers for collaborative, interdisciplinary, and translational studies of the genetic epidemiology of breast cancer. Detailed information can be found at the URL webcite.

biospecimen repository; breast cancer; familial aggregation; genetic epidemiology