Research Brief
Biallelic Deleterious BRCA1 Mutations in a Woman with Early-Onset Ovarian Cancer
Susan M. Domchek, Jiangbo Tang, Jill Stopfer, Dana R. Lilli, Nancy Hamel, Marc Tischkowitz, Alvaro N.A. Monteiro, Troy E. Messick, Jacquelyn Powers, Alexandria Yonker, Fergus J. Couch, David E. Goldgar, H. Rosemarie Davidson, Katherine L. Nathanson, William D. Foulkes and Roger A. Greenberg
Susan M. Domchek
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
Jiangbo Tang
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
Jill Stopfer
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
Dana R. Lilli
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
Nancy Hamel
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
Marc Tischkowitz
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
Alvaro N.A. Monteiro
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
Troy E. Messick
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
Jacquelyn Powers
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
Alexandria Yonker
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
Fergus J. Couch
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
David E. Goldgar
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
H. Rosemarie Davidson
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
Katherine L. Nathanson
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
William D. Foulkes
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
Roger A. Greenberg
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
DOI: 10.1158/2159-8290.CD-12-0421 Published April 2013
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Volume 3, Issue 4, pp. 399-405
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History
- Received September 18, 2012
- Revision received December 16, 2012
- Accepted December 21, 2012
- Published first December 26, 2012.
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- Previous version (December 26, 2012 - 11:57).
- Previous version (March 19, 2013 - 06:49).
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©2012 American Association for Cancer Research.
Author Information
- Susan M. Domchek1,2,5,
- Jiangbo Tang3,
- Jill Stopfer1,
- Dana R. Lilli1,3,
- Nancy Hamel8,9,
- Marc Tischkowitz8,9,10,
- Alvaro N.A. Monteiro12,
- Troy E. Messick6,
- Jacquelyn Powers2,
- Alexandria Yonker13,
- Fergus J. Couch14,
- David E. Goldgar15,
- H. Rosemarie Davidson11,
- Katherine L. Nathanson1,2,5,
- William D. Foulkes7,8,9 and
- Roger A. Greenberg1,3,4,5
- Authors' Affiliations:1Abramson Cancer Center, Departments of 2Medicine, 3Cancer Biology, and 4Pathology and Laboratory Medicine, 5Basser Research Center for BRCA1/2, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania; 6Vironika, Philadelphia, Pennsylvania; 7Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital; 8Program in Cancer Genetics, Departments of Oncology and Human Genetics, and 9Research Institute, McGill University Health Centre, McGill University, Montreal, Quebec, Canada; 10Department of Medical Genetics, University of Cambridge, Cambridge; and 11Ferguson Smith Centre for Clinical Genetics, Yorkhill, Glasgow, United Kingdom; 12Cancer Epidemiology Program, H. Lee Moffitt Cancer Center, Tampa, Florida; 13Cancer Genetic Risk Assessment Program, Bryan Hemming Cancer Care Center, San Francisco, California; 14Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; 15Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah
- Corresponding Authors:
Susan M. Domchek, Abramson Cancer Center, University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104. Phone: 215-615-3360; Fax: 215-615-3349; E-mail: susan.domchek{at}uphs.upenn.edu; and Roger A. Greenberg, Perelman School of Medicine, University of Pennsylvania, 421 Curie Boulevard, Philadelphia, PA 19104-6160. Phone: 215-746-2738; Fax: 215-573-2486; E-mail: rogergr{at}mail.med.upenn.edu
April 2013
Volume 3, Issue 4
Volume 3, Issue 4
Biallelic Deleterious BRCA1 Mutations in a Woman with Early-Onset Ovarian Cancer
Susan M. Domchek, Jiangbo Tang, Jill Stopfer, Dana R. Lilli, Nancy Hamel, Marc Tischkowitz, Alvaro N.A. Monteiro, Troy E. Messick, Jacquelyn Powers, Alexandria Yonker, Fergus J. Couch, David E. Goldgar, H. Rosemarie Davidson, Katherine L. Nathanson, William D. Foulkes and Roger A. Greenberg
Cancer Discov April 1 2013 (3) (4) 399-405; DOI: 10.1158/2159-8290.CD-12-0421
Biallelic Deleterious BRCA1 Mutations in a Woman with Early-Onset Ovarian Cancer
Susan M. Domchek, Jiangbo Tang, Jill Stopfer, Dana R. Lilli, Nancy Hamel, Marc Tischkowitz, Alvaro N.A. Monteiro, Troy E. Messick, Jacquelyn Powers, Alexandria Yonker, Fergus J. Couch, David E. Goldgar, H. Rosemarie Davidson, Katherine L. Nathanson, William D. Foulkes and Roger A. Greenberg
Cancer Discov April 1 2013 (3) (4) 399-405; DOI: 10.1158/2159-8290.CD-12-0421
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