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Open Access
Peer-reviewed
Research Article
Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles
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Francisco Javier Gracia-Aznarez,
Affiliation Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain
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Victoria Fernandez,
Affiliation Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain
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Guillermo Pita,
Affiliation Human Genotyping Unit –CEGEN, Spanish National Cancer Centre (CNIO), Madrid, Spain
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Paolo Peterlongo,
Affiliations IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
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Orlando Dominguez,
Affiliation Genomics Unit, Spanish National Cancer Centre (CNIO), Madrid, Spain
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Miguel de la Hoya,
Affiliation Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Madrid, Spain
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Mercedes Duran,
Affiliation Instituto de Biología y Genética Molecular (IBGM-UVA.CSIC), Valladolid, Spain
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Ana Osorio,
Affiliation Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain
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Leticia Moreno,
Affiliation Human Genotyping Unit –CEGEN, Spanish National Cancer Centre (CNIO), Madrid, Spain
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Anna Gonzalez-Neira,
Affiliation Human Genotyping Unit –CEGEN, Spanish National Cancer Centre (CNIO), Madrid, Spain
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Juan Manuel Rosa-Rosa,
Affiliation Bioinformatics Unit, Sistemas Genómicos, Valencia, Spain
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Olga Sinilnikova,
Affiliations CNRS UMR5286 INSERM U1052, Université Lyon 1, Cancer Research Center of Lyon, Center Léon Bérard, Lyon, France, Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon, Centre Léon Bérard, Lyon, France
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Sylvie Mazoyer,
Affiliation CNRS UMR5286 INSERM U1052, Université Lyon 1, Cancer Research Center of Lyon, Center Léon Bérard, Lyon, France
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John Hopper,
Affiliation Centre for Molecular, Environmental, Genetic and Analytical Epidemiology, School of Population Health, The University of Melbourne, Victoria, Australia
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Conchi Lazaro,
Affiliation Molecular Diagnostic Unit, Hereditary Cancer Program, Institut Català d’Oncologia-IDIBELL, Barcelona, Spain
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Melissa Southey,
Affiliation Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Victoria, Australia
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Fabrice Odefrey,
Affiliation Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Victoria, Australia
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Siranoush Manoukian,
Affiliation Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
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Irene Catucci,
Affiliations IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
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Trinidad Caldes,
Affiliation Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Madrid, Spain
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Henry T. Lynch,
Affiliation Department of Preventive Medicine and Public Health, Creighton University School of Medicine, Omaha, Nebraska, United States of America
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Florentine S. M. Hilbers,
Affiliation Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
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Christi J. van Asperen,
Affiliation Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
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Hans F. A. Vasen,
Affiliations Foundation for the Detection of Hereditary Tumors, Leiden, The Netherlands, Department of Gastroenterology, Leiden University Medical Center, Leiden, The Netherlands
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David Goldgar,
Affiliation Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah, United States of America
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Paolo Radice,
Affiliations IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
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Peter Devilee,
Affiliations Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands, Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands
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Javier Benitez
* E-mail: jbenitez@cnio.es
Affiliations Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain, Human Genotyping Unit –CEGEN, Spanish National Cancer Centre (CNIO), Madrid, Spain, Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain
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Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles
- Francisco Javier Gracia-Aznarez,
- Victoria Fernandez,
- Guillermo Pita,
- Paolo Peterlongo,
- Orlando Dominguez,
- Miguel de la Hoya,
- Mercedes Duran,
- Ana Osorio,
- Leticia Moreno,
- Anna Gonzalez-Neira
- Published: February 8, 2013
- https://doi.org/10.1371/journal.pone.0055681