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Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients

Authors

  • Ella R. Thompson,

    Corresponding author
    1. VBCRC Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia
    • VBCRC Cancer Research Laboratory, Peter MacCallum Cancer Centre, Locked Bag 1, A'Beckett St, East Melbourne, VIC 8006, Australia
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  • Samantha E. Boyle,

    1. VBCRC Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia
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  • Julie Johnson,

    1. Cancer Genetics Laboratory, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    2. School of Medicine, University of Queensland, Brisbane, Queensland, Australia
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  • Georgina L. Ryland,

    1. VBCRC Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia
    2. Centre for Cancer Research, Monash Institute of Medical Research, Monash University, Clayton, Victoria, Australia
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  • Sarah Sawyer,

    1. Familial Cancer Centre, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia
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  • David Y.H. Choong,

    1. VBCRC Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia
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  • kConFab,

    1. Kathleen Cuningham Foundation for Research into Familial Breast Cancer (kConFab), Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia
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  • Georgia Chenevix-Trench,

    1. Cancer Genetics Laboratory, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
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  • Alison H. Trainer,

    1. Familial Cancer Centre, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia
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  • Geoffrey J. Lindeman,

    1. Familial Cancer Centre, The Royal Melbourne Hospital, Parkville, Victoria, Australia
    2. Stem Cells and Cancer Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia
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  • Gillian Mitchell,

    1. Familial Cancer Centre, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia
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  • Paul A. James,

    1. Familial Cancer Centre, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia
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  • Ian G. Campbell

    1. VBCRC Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia
    2. Department of Pathology, University of Melbourne, Melbourne, Victoria, Australia
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  • Communicated by David E. Goldgar

Abstract

There is strong evidence that overtly inactivating mutations in RAD51C predispose to hereditary breast and ovarian cancer but the prevalence of such mutations, and whether they are associated with a particular clinical phenotype, remains unclear. Resolving these questions has important implications for the implementation of RAD51C into routine clinical genetic testing. Consequently, we have performed a large RAD51C mutation screen of hereditary breast and ovarian cancer families, and the first study of unselected patients diagnosed with ovarian cancer. Our data confirm a consistent but low frequency (2/335 families) of inactivating RAD51C mutations among families with a history of both breast and ovarian cancer and an absence of mutations among breast cancer only families (0/1,053 families). Our data also provide support for the designation of the missense variant p.Gly264Ser as a moderate penetrance allele. Hum Mutat 33:95–99, 2012. © 2011 Wiley Periodicals, Inc.

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