Breast Cancer Research and Treatment

, Volume 134, Issue 2, pp 895–897 | Cite as

High sensitivity for BRCA1/2 mutations in breast/ovarian kindreds: are there still other breast/ovary genes to be discovered?

  • Miriam J. Smith
  • Franchesca L. Gifford
  • Fiona Lalloo
  • William G. Newman
  • D. Gareth R. Evans
Letter to the Editor

To the editor,

Recently, two genes RAD51C [1] and RAD51D [2] have been identified as high-risk ovarian cancer genes. However, their contribution to breast cancer risk is less clear [2]. Indeed a recent analysis of both genes in the familial breast cancer study (FBCS) cohort has not suggested any increased risk of breast cancer, but a 6–8 fold increase in ovarian cancer risk for both genes [3]. We show here that the contribution of RAD51C and RAD51D gene mutations to an inherited high risk of ovarian cancer is very small.

Until the discovery of pathogenic mutations in RAD51C and RAD51D, it was assumed that the majority, if not all, of the inherited breast and ovarian cancer was due to mutations in BRCA1 or BRCA2 [4]. Ninety-five percent of families with the breast cancer linkage consortium (BCLC) criteria of at least four breast or ovarian cancers with the breast cancers diagnosed <60 years of age and at least one ovarian cancer in the family were predicted to have a mutation in either...


Breast Cancer Ovarian Cancer Ovarian Cancer Risk High Risk Family Ovarian Cancer Family 
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D. G. E., W. G. N. and F. L. are supported by the NIHR Biomedical Research Centre, Manchester. Additional grant support was from The Genesis Breast Cancer Prevention Appeal. We would also like to thank Prof Nazneen Rahman and her team at ICR for supplying us with the RAD51D results and contributing towards RAD51C testing.




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Copyright information

© Springer Science+Business Media, LLC. 2012

Authors and Affiliations

  • Miriam J. Smith
    • 1
  • Franchesca L. Gifford
    • 1
  • Fiona Lalloo
    • 1
  • William G. Newman
    • 1
  • D. Gareth R. Evans
    • 1
  1. 1.Department of Genetic Medicine, Manchester Academic Health Science CentreCentral Manchester Foundation Trust, The University of ManchesterManchesterUK

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