Breast Cancer Research and Treatment

, Volume 116, Issue 2, pp 379–386

BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research


    • Department of EpidemiologyUniversity of California Irvine
  • Hilmi Ozcelik
    • Division of Epidemiology and BiostatisticsSamuel Lunenfeld Research Institute, Mount Sinai Hospital
  • Melissa C. Southey
    • Department of PathologyThe University of Melbourne
  • Esther M. John
    • Northern California Cancer Center
  • Andrew K. Godwin
    • Fox Chase Cancer Center
  • Wendy Chung
    • Department of Pediatrics and MedicineColumbia University
  • Jeniffer Iriondo-Perez
    • Research Triangle Institute
  • Alexander Miron
    • Department of Cancer BiologyDana Farber Cancer Center
  • Regina M. Santella
    • Mailman School of Public HealthColumbia University
  • Alice Whittemore
    • Stanford University School of Medicine
  • Irene L. Andrulis
    • Ontario Cancer Genetics Network, Cancer Care Ontario, Fred A. Litwin Center for Cancer GeneticsSamuel Lunenfeld Research Institute, Mount Sinai Hospital
  • Saundra S. Buys
    • Huntsman Cancer Institute at the University of Utah
  • Mary B. Daly
    • Fox Chase Cancer Center
  • John L. Hopper
    • Center for Molecular, Environmental, Genetic and Analytic EpidemiologyThe University of Melbourne
  • Daniela Seminara
    • Epidemiology and Genetics Research Program, Clinical and Genetic Epidemiology Research Branch, Division of Cancer Control and Population SciencesNational Cancer Institute
  • Ruby T. Senie
    • Mailman School of Public HealthColumbia University
  • Mary Beth Terry
    • Mailman School of Public HealthColumbia University
  • Breast Cancer Family Registry

DOI: 10.1007/s10549-008-0153-8

Cite this article as:
Neuhausen, S.L., Ozcelik, H., Southey, M.C. et al. Breast Cancer Res Treat (2009) 116: 379. doi:10.1007/s10549-008-0153-8


The Breast Cancer Family Registry is a resource for interdisciplinary and translational studies of the genetic epidemiology of breast cancer. This resource is available to researchers worldwide for collaborative studies. Herein, we report the results of testing for germline mutations in BRCA1 and BRCA2. We have tested 4,531 probands for mutations in BRCA1 and 4,084 in BRCA2. Deleterious mutations in BRCA1 and BRCA2 were identified for 9.8% of probands tested [233/4,531 (5.1%) for BRCA1 and 193/4,084 (4.7%) for BRCA2]. Of 1,385 Ashkenazi Jewish women tested for only the three founder mutations, 17.4% carried a deleterious mutation. In total, from the proband and subsequent family testing, 1,360 female mutation carriers (788 in BRCA1, 566 in BRCA2, 6 in both BRCA1 and BRCA2) have been identified. The value of the resource has been greatly enhanced by determining the germline BRCA1 and BRCA2 mutation statuses of nearly 6,000 probands.


Biospecimen repositoryBreast cancerBRCA1BRCA2

Copyright information

© Springer Science+Business Media, LLC. 2008