Multifactorial Likelihood Assessment of BRCA1 and BRCA2 Missense Variants Confirms That BRCA1:c.122A>G(p.His41Arg) Is a Pathogenic Mutation

• Phillip J. Whiley,

  Affiliations QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia, School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Queensland, Australia

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• Michael T. Parsons,

  Affiliation QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia

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• Jennifer Leary,

  Affiliation Familial Cancer Service, Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Westmead Hospital, Sydney, NSW, Australia

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• Kathy Tucker,

  Affiliation Hereditary Cancer Clinic, Prince of Wales Hospital, Randwick, Sydney, NSW, Australia

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• Linda Warwick,

  Affiliation Genetics Department, The Canberra Hospital, Canberra, ACT, Australia

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• Belinda Dopita,

  Affiliation Genetics Department, The Canberra Hospital, Canberra, ACT, Australia

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• Heather Thorne,

  Affiliation kConFab, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia

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• Sunil R. Lakhani,

  Affiliation The University of Queensland, UQ Centre for Clinical Research and School of Medicine, and Pathology Queensland, The Royal Brisbane and Women’s Hospital, Brisbane, Queensland, Australia

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• David E. Goldgar,

  Affiliation Huntsman Cancer Institute and Department of Dermatology, University of Utah, Salt Lake City, Utah, United States of America

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• Melissa A. Brown,

  Affiliation School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Queensland, Australia

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• Amanda B. Spurdle

  * E-mail: Amanda.Spurdle@qimrberghofer.edu.au

  Affiliation QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia

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