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Open Access
Peer-reviewed
Research Article
Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles
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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
* E-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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Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles
- Ella R. Thompson,
- Maria A. Doyle,
- Georgina L. Ryland,
- Simone M. Rowley,
- David Y. H. Choong,
- Richard W. Tothill,
- Heather Thorne,
- kConFab,
- Daniel R. Barnes,
- Jason Li
- Published: September 27, 2012
- https://doi.org/10.1371/journal.pgen.1002894