Breast Cancer Research and Treatment

, Volume 116, Issue 2, pp 379–386 | Cite as

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

  • Susan L. NeuhausenEmail author
  • Hilmi Ozcelik
  • Melissa C. Southey
  • Esther M. John
  • Andrew K. Godwin
  • Wendy Chung
  • Jeniffer Iriondo-Perez
  • Alexander Miron
  • Regina M. Santella
  • Alice Whittemore
  • Irene L. Andrulis
  • Saundra S. Buys
  • Mary B. Daly
  • John L. Hopper
  • Daniela Seminara
  • Ruby T. Senie
  • Mary Beth Terry
  • Breast Cancer Family Registry


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 repository Breast cancer BRCA1 BRCA2 



This work was supported by the National Cancer Institute, National Institutes of Health under RFA # CA-95-011 and through cooperative agreements with members of the Breast Cancer Family Registry and Principal Investigators, including Cancer Care Ontario (U01 CA69467), Columbia University (U01 CA69398), Fox Chase Cancer Center (U01 CA69631), Huntsman Cancer Institute (U01 CA69446), Huntsman Cancer Institute (U01 CA69446), Northern California Cancer Center (U01 CA69417), University of Melbourne (U01 CA69638), and Research Triangle Institute Informatics Support Center (RFP No. N02PC45022-46). Mutation testing in Australia was supported by grants from the National Health and Medical Research Council (NHMRC) and the Victorian Breast Cancer Research Consortium (VBCRC). Mutation testing at Fox Chase Cancer Center was in part supported by an Ovarian Cancer SPORE grant (P50 CA83638). Mutation testing in Ontario was supported in part by Cancer Care Ontario. We wish to thank members of the Ontario Cancer Genetics Network for their contributions to the study. MCS is a Senior Research Fellow of the NHMRC and JLH is an Australia Fellow and a VBCRC Group Leader. The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast CFR, nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government or the Breast CFR.


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Copyright information

© Springer Science+Business Media, LLC. 2008

Authors and Affiliations

  • Susan L. Neuhausen
    • 1
    Email author
  • Hilmi Ozcelik
    • 2
  • Melissa C. Southey
    • 3
  • Esther M. John
    • 4
  • Andrew K. Godwin
    • 5
  • Wendy Chung
    • 6
  • Jeniffer Iriondo-Perez
    • 7
  • Alexander Miron
    • 8
  • Regina M. Santella
    • 9
  • Alice Whittemore
    • 10
  • Irene L. Andrulis
    • 11
  • Saundra S. Buys
    • 12
  • Mary B. Daly
    • 5
  • John L. Hopper
    • 13
  • Daniela Seminara
    • 14
  • Ruby T. Senie
    • 9
  • Mary Beth Terry
    • 9
  • Breast Cancer Family Registry
    • 15
  1. 1.Department of EpidemiologyUniversity of California IrvineIrvineUSA
  2. 2.Division of Epidemiology and BiostatisticsSamuel Lunenfeld Research Institute, Mount Sinai HospitalTorontoCanada
  3. 3.Department of PathologyThe University of MelbourneParkvilleAustralia
  4. 4.Northern California Cancer CenterFremontUSA
  5. 5.Fox Chase Cancer CenterPhiladelphiaUSA
  6. 6.Department of Pediatrics and MedicineColumbia UniversityNew YorkUSA
  7. 7.Research Triangle InstituteRaleighUSA
  8. 8.Department of Cancer BiologyDana Farber Cancer CenterBostonUSA
  9. 9.Mailman School of Public HealthColumbia UniversityNew YorkUSA
  10. 10.Stanford University School of MedicinePalo AltoUSA
  11. 11.Ontario Cancer Genetics Network, Cancer Care Ontario, Fred A. Litwin Center for Cancer GeneticsSamuel Lunenfeld Research Institute, Mount Sinai HospitalTorontoCanada
  12. 12.Huntsman Cancer Institute at the University of UtahSalt Lake CityUSA
  13. 13.Center for Molecular, Environmental, Genetic and Analytic EpidemiologyThe University of MelbourneParkvilleAustralia
  14. 14.Epidemiology and Genetics Research Program, Clinical and Genetic Epidemiology Research Branch, Division of Cancer Control and Population SciencesNational Cancer InstituteBethesdaUSA
  15. 15.BethesdaUSA

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