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Research Article

Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles

  • Ella R. Thompson,

    Affiliation: Victorian Breast Cancer Research Consortium Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia

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  • Maria A. Doyle,

    Affiliation: Bioinformatics Core Facility, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia

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  • Georgina L. Ryland,

    Affiliations: Victorian Breast Cancer Research Consortium Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia, Centre for Cancer Research, Monash Institute of Medical Research, Monash University, Clayton, Victoria, Australia

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  • Simone M. Rowley,

    Affiliation: Victorian Breast Cancer Research Consortium Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia

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  • David Y. H. Choong,

    Affiliation: Victorian Breast Cancer Research Consortium Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia

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  • Richard W. Tothill,

    Affiliation: Molecular Genomics Core Facility, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia

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  • Heather Thorne,

    Affiliation: Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia

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  • kConFab,

    Affiliation: Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia

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  • Daniel R. Barnes,

    Affiliation: Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom

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  • Jason Li,

    Affiliation: Bioinformatics Core Facility, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia

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  • Jason Ellul,

    Affiliation: Bioinformatics Core Facility, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia

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  • Gayle K. Philip,

    Affiliation: Life Sciences Computation Centre, Victorian Life Sciences Computation Initiative, Carlton, Victoria, Australia

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  • Yoland C. Antill,

    Affiliation: Victorian Breast Cancer Research Consortium Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia

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  • Paul A. James,

    Affiliations: Familial Cancer Centre, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia, Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria, Australia

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  • Alison H. Trainer,

    Affiliations: Victorian Breast Cancer Research Consortium Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia, Familial Cancer Centre, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia

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  • Gillian Mitchell,

    Affiliations: Familial Cancer Centre, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia, Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria, Australia

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  • Ian G. Campbell mail

    ian.campbell@petermac.org

    Affiliations: Victorian Breast Cancer Research Consortium Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia, Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria, Australia, Department of Pathology, University of Melbourne, Parkville, Victoria, Australia

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  • Published: September 27, 2012
  • DOI: 10.1371/journal.pgen.1002894

About the Authors

Ella R. Thompson, Georgina L. Ryland, Simone M. Rowley, David Y. H. Choong, Yoland C. Antill, Alison H. Trainer, Ian G. Campbell
Victorian Breast Cancer Research Consortium Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia
Maria A. Doyle, Jason Li, Jason Ellul
Bioinformatics Core Facility, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia
Georgina L. Ryland
Centre for Cancer Research, Monash Institute of Medical Research, Monash University, Clayton, Victoria, Australia
Richard W. Tothill
Molecular Genomics Core Facility, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia
Heather Thorne, kConFab
Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia
Daniel R. Barnes
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom
Gayle K. Philip
Life Sciences Computation Centre, Victorian Life Sciences Computation Initiative, Carlton, Victoria, Australia
Paul A. James, Alison H. Trainer, Gillian Mitchell
Familial Cancer Centre, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia
Paul A. James, Gillian Mitchell, Ian G. Campbell
Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria, Australia
Ian G. Campbell
Department of Pathology, University of Melbourne, Parkville, Victoria, Australia

Corresponding Author

Email: ian.campbell@petermac.org

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: IGC GM ERT. Performed the experiments: ERT GLR RWT SMR DYHC YCA. Analyzed the data: ERT MAD JL JE GKP DRB. Contributed reagents/materials/analysis tools: kConFab HT GM PAJ AHT. Wrote the paper: ERT IGC AHT.