Breast Cancer Research and Treatment

, Volume 115, Issue 1, pp 145–150 | Cite as

The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case–control and family analysis

  • Sharon E. Johnatty
  • Jonathan Beesley
  • Xiaoqing Chen
  • John L. Hopper
  • Melissa C. Southey
  • Graham G. Giles
  • David E. Goldgar
  • Georgia Chenevix-Trench
  • Amanda B. Spurdle
  • The Australian Ovarian Cancer Study Group
  • The Kathleen Cuningham Consortium for Research in Familial Breast Cancer


BARD1 was first identified as a BRCA1-interacting protein with tumour-suppressor functions. Some association studies suggested that the BARD1 Cys557Ser variant might be associated with increased risk of breast cancer, but the evidence remains uncertain. We found that the BARD1 Cys557Ser variant was carried by 50 of 1,136 cases (4.4%) and 30 of 623 controls (5.0%) from the population-based Australian Breast Cancer Family Study, 14 of 324 (4.3%) cases from the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), and 30 of 760 controls (4.0%) from the Australian Ovarian Cancer Study. Case–control comparisons showed no evidence that the variant frequency differed by case–control status (P ≥ 0.3). Segregation analysis of 14 kConFab variant-carrying families containing 157 genotyped individuals provided no evidence of segregation with disease. We conclude that the BARD1 Cys557Ser variant is not associated with breast cancer risk.


BARD1 Breast cancer Polymorphisms Cys557Ser 



We wish to thank Heather Thorne, Eveline Niedermayr, all the kConFab research nurses and staff, the heads and staff of the Family Cancer Clinics, and the Clinical Follow Up Study (funded by NHMRC Grants 145684 and 288704) for their contributions to this resource, and the many families who contribute to kConFab. kConFab is supported by grants from the National Breast Cancer Foundation, the National Health and Medical Research Council (NHMRC) and by the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. We thank the Margaret McCredie for her role in the establishment of the Australian Breast Cancer Family Study, and we are grateful to the physicians, surgeons and oncologists who endorsed the ABCFS project, the interviewing staff, and the many women who participated in this research. The ABCFS was funded by the National Health and Medical Research Council, the Victorian Health Promotion Foundation, the New South Wales Cancer Council, the Peter MacCallum Cancer Institute, the Inkster-Ross Memorial Fund, and in part by the National Institute of Health, as part of the Cancer Family Registry for Breast Cancer Study (CA 69638). This work used data collected from the Breast Cancer Family Registries Studies (Breast CFRs), funded by the National Cancer Institute under RFA # CA-95-003 and through cooperative agreements with the Fox Chase Cancer Center, Huntsman Cancer Institute, Columbia University, Northern California Cancer Center, Cancer Care Ontario, and University of Melbourne. 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 CFRs, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government or the CFRs Centers. This work was supported by funding from the National Health and Medical Research Council (NHMRC). GCT is supported by a NHMRC Senior Principal Research Fellowship, and JH is an NHMRC Australian Fellow. The full AOCS Study Group is listed on ( We gratefully acknowledge the cooperation of all participating institutions and the contributions of the women who participated in this study.


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Copyright information

© Springer Science+Business Media, LLC. 2008

Authors and Affiliations

  • Sharon E. Johnatty
    • 1
  • Jonathan Beesley
    • 1
  • Xiaoqing Chen
    • 1
  • John L. Hopper
    • 2
  • Melissa C. Southey
    • 3
  • Graham G. Giles
    • 4
  • David E. Goldgar
    • 5
  • Georgia Chenevix-Trench
    • 1
  • Amanda B. Spurdle
    • 1
  • The Australian Ovarian Cancer Study Group
    • 1
    • 6
  • The Kathleen Cuningham Consortium for Research in Familial Breast Cancer
    • 6
  1. 1.Cancer and Cell BiologyQueensland Institute of Medical ResearchHerston, BrisbaneAustralia
  2. 2.Centre for Genetic EpidemiologyThe University of MelbourneCarltonAustralia
  3. 3.Department of PathologyThe University of MelbourneCarltonAustralia
  4. 4.Cancer Epidemiology CentreThe Cancer Council VictoriaMelbourneAustralia
  5. 5.Genetic EpidemiologyThe University of UtahSalt Lake CityUSA
  6. 6.Peter MacCallum Cancer CentreMelbourneAustralia

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