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Tytuł :
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.
Autorzy :
Tubeuf H; Inserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Interactive Biosoftware, Rouen, France.
Caputo SM; Department of Genetics, Institut Curie, Paris, France.; PSL Research University, Paris, France.
Sullivan T; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, Maryland.
Rondeaux J; Inserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Krieger S; Inserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Laboratory of Cancer Biology and Genetics, Centre François Baclesse, Caen, France - Normandie University, UNICAEN, Caen, France.
Caux-Moncoutier V; Department of Genetics, Institut Curie, Paris, France.; PSL Research University, Paris, France.
Hauchard J; Inserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Castelain G; Inserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Fiévet A; Department of Genetics, Institut Curie, Paris, France.; INSERM U830, University Paris Descartes, Paris, France.; Service Génétique des Tumeurs, Gustave Roussy, Villejuif, France.
Meulemans L; Inserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Révillion F; Unit of Human Molecular Oncology, Centre Oscar Lambret, Lille, France.
Léoné M; Hospices Civils de Lyon, Bron, France.
Boutry-Kryza N; Hospices Civils de Lyon, Bron, France.
Delnatte C; Department of Genetics, Nantes University Hospital, Nantes, France.
Guillaud-Bataille M; Service Génétique des Tumeurs, Gustave Roussy, Villejuif, France.
Cleveland L; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, Maryland.
Reid S; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, Maryland.
Southon E; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, Maryland.
Soukarieh O; Inserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Drouet A; Inserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Di Giacomo D; Inserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Vezain M; Inserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Bonnet-Dorion F; Inserm U1218, Department of Genetics, Institut Bergonié, Bordeaux, France.
Bourdon V; Department of Genetics, Institut Paoli-Calmettes, Marseille, France.
Larbre H; Laboratoire d'Oncogénétique Moléculaire, Institut Godinot, Reims, France.
Muller D; Unité d'Oncogénétique, Centre Paul Strauss, Strasbourg, France.
Pujol P; Unité d'Oncogénétique, CHU Arnaud de Villeneuve, Montpellier, France.
Vaz F; Breast Cancer Risk Evaluation Clinic, Portuguese Institute of Oncology of Lisbon, Lisbon, Portugal.
Audebert-Bellanger S; Département de Génétique et Biologie de la Reproduction, CHU Morvan, Brest, France.
Colas C; Department of Genetics, Institut Curie, Paris, France.; PSL Research University, Paris, France.
Venat-Bouvet L; Service Oncologie, CHU Dupuytren, Limoges, France.
Solano AR; Genotipificacion y Cancer Hereditario, Departmento de Analisis Clinicos, Centro de Educacion Medica e Investigaciones Clinicas (CEMIC), Ciudad Autonoma de Buenos Aires, Argentina.
Stoppa-Lyonnet D; Department of Genetics, Institut Curie, Paris, France.; INSERM U830, University Paris Descartes, Paris, France.
Houdayer C; Inserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Department of Genetics, University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Frebourg T; Inserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Department of Genetics, University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Gaildrat P; Inserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Sharan SK; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, Maryland.
Martins A; Inserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France. .
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Źródło :
Cancer research [Cancer Res] 2020 Sep 01; Vol. 80 (17), pp. 3593-3605. Date of Electronic Publication: 2020 Jul 08.
Typ publikacji :
Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genes, BRCA2*
Breast Neoplasms/*genetics
Genetic Predisposition to Disease/*genetics
Ovarian Neoplasms/*genetics
Alternative Splicing ; Animals ; Exons ; Female ; Humans ; Mice ; Protein Isoforms
Czasopismo naukowe
Tytuł :
HRness in Breast and Ovarian Cancers.
Autorzy :
Santana Dos Santos E; Department of Medical Biology and Pathology, Gustave Roussy, Cancer Genetics Laboratory, Gustave Roussy, 94800 Villejuif, France.; Department of Clinical Oncology, A.C. Camargo Cancer Center, São Paulo 01509-010, Brazil.
Lallemand F; Department of Genetics, Institut Curie, 75005 Paris, France.; PSL Research University, 75005 Paris, France.
Petitalot A; Department of Genetics, Institut Curie, 75005 Paris, France.; PSL Research University, 75005 Paris, France.
Caputo SM; Department of Genetics, Institut Curie, 75005 Paris, France.; PSL Research University, 75005 Paris, France.
Rouleau E; Department of Medical Biology and Pathology, Gustave Roussy, Cancer Genetics Laboratory, Gustave Roussy, 94800 Villejuif, France.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2020 May 28; Vol. 21 (11). Date of Electronic Publication: 2020 May 28.
Typ publikacji :
Journal Article; Review
Czasopismo naukowe
Tytuł :
The high protein expression of FOXO3, but not that of FOXO1, is associated with markers of good prognosis.
Autorzy :
Lallemand F; Service de génétique, unité de pharmacogénomique, Institut Curie, 26 rue d'Ulm, Paris, France.; Paris Sciences Lettres Research University, Paris, France.
Vacher S; Service de génétique, unité de pharmacogénomique, Institut Curie, 26 rue d'Ulm, Paris, France.; Paris Sciences Lettres Research University, Paris, France.
de Koning L; Translational Research Department, Institut Curie, PSL Research University, 26 rue d'Ulm, Paris, France.
Petitalot A; Service de génétique, unité de pharmacogénomique, Institut Curie, 26 rue d'Ulm, Paris, France.; Paris Sciences Lettres Research University, Paris, France.; Service de génétique, unité de génétique constitutionnelle, Institut Curie, 26 rue d'Ulm, Paris, France.
Briaux A; Service de génétique, unité de pharmacogénomique, Institut Curie, 26 rue d'Ulm, Paris, France.; Paris Sciences Lettres Research University, Paris, France.
Driouch K; Service de génétique, unité de pharmacogénomique, Institut Curie, 26 rue d'Ulm, Paris, France.; Paris Sciences Lettres Research University, Paris, France.
Callens C; Service de génétique, unité de pharmacogénomique, Institut Curie, 26 rue d'Ulm, Paris, France.; Paris Sciences Lettres Research University, Paris, France.
Schnitzler A; Service de génétique, unité de pharmacogénomique, Institut Curie, 26 rue d'Ulm, Paris, France.; Paris Sciences Lettres Research University, Paris, France.
Lecerf C; Translational Research Department, Institut Curie, PSL Research University, 26 rue d'Ulm, Paris, France.
Oulie-Bard F; Translational Research Department, Institut Curie, PSL Research University, 26 rue d'Ulm, Paris, France.
Barbet A; Translational Research Department, Institut Curie, PSL Research University, 26 rue d'Ulm, Paris, France.
Vincent A; Centre de Recherche en Cancérologie de Lyon (CRCL)/INSERM U1052-CNRS UMR5286 Centre Léon Bérard, 28 Rue Laënnec, 69373 Cedex 08, Lyon, France., Lyon, France.
Zinn-Justin S; Laboratoire de Biologie Structurale et Radiobiologie, Institute for Integrative Biology of the Cell (CEA, CNRS, University Paris South), University Paris-Saclay, Gif-sur-Yvette, France.
Lopez BS; CNRS UMR 8200, Gustave Roussy Cancer Institute, Université Paris-Saclay, équipe labélisée par la Ligue contre le cancer, Villejuif, France.; Institut Cochin, INSERM U1016, UMR 8104 CNRS, Université de Paris, 75014, Paris, France.
Lidereau R; Service de génétique, unité de pharmacogénomique, Institut Curie, 26 rue d'Ulm, Paris, France.
Bieche I; Service de génétique, unité de pharmacogénomique, Institut Curie, 26 rue d'Ulm, Paris, France.; INSERM U1016, Université Paris Descartes, 4 avenue de l'observatoire, Paris, France.
Caputo SM; Paris Sciences Lettres Research University, Paris, France. sandrine.caputo@curie.fr.; Service de génétique, unité de génétique constitutionnelle, Institut Curie, 26 rue d'Ulm, Paris, France. sandrine.caputo@curie.fr.
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Źródło :
Scientific reports [Sci Rep] 2020 Apr 24; Vol. 10 (1), pp. 6920. Date of Electronic Publication: 2020 Apr 24.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Biomarkers, Tumor/*metabolism
Breast Neoplasms/*diagnosis
Forkhead Box Protein O1/*metabolism
Forkhead Box Protein O3/*metabolism
Adult ; Aged ; Aged, 80 and over ; Apoptosis/genetics ; Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Cell Cycle/genetics ; Cell Proliferation/genetics ; DNA Damage/genetics ; DNA Repair/genetics ; Female ; Forkhead Box Protein O1/genetics ; Forkhead Box Protein O3/genetics ; Gene Expression Regulation, Neoplastic ; Humans ; Kaplan-Meier Estimate ; Middle Aged ; Phosphatidylinositol 3-Kinases/metabolism ; Prognosis ; Proto-Oncogene Proteins c-akt/metabolism ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Signal Transduction ; TOR Serine-Threonine Kinases/metabolism
Czasopismo naukowe
Tytuł :
Is BRCA2 involved in early onset colorectal cancer risk?
Autorzy :
Gay-Bellile M; Université Clermont Auvergne, INSERM, U1240 Imagerie Moléculaire et Stratégies Théranostiques, Clermont Ferrand, France.; Département d'Oncogénétique, Centre Jean Perrin, Clermont-Ferrand, France.
Privat M; Université Clermont Auvergne, INSERM, U1240 Imagerie Moléculaire et Stratégies Théranostiques, Clermont Ferrand, France.; Département d'Oncogénétique, Centre Jean Perrin, Clermont-Ferrand, France.
Martins A; INSERM U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, UNIROUEN, Normandie Université, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Caputo SM; Institut Curie, Service de Génétique, Paris, France.
Pebrel-Richard C; Université Clermont Auvergne, INSERM, U1240 Imagerie Moléculaire et Stratégies Théranostiques, Clermont Ferrand, France.; Service de Cytogénétique Médicale, CHU Clermont-Ferrand, Clermont-Ferrand, France.
Cavaillé M; Université Clermont Auvergne, INSERM, U1240 Imagerie Moléculaire et Stratégies Théranostiques, Clermont Ferrand, France.; Département d'Oncogénétique, Centre Jean Perrin, Clermont-Ferrand, France.
Viala S; Université Clermont Auvergne, INSERM, U1240 Imagerie Moléculaire et Stratégies Théranostiques, Clermont Ferrand, France.; Département d'Oncogénétique, Centre Jean Perrin, Clermont-Ferrand, France.
Corsini C; Département de Génétique Médicale, unité d'oncogénétique clinique, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France.
Rodrigues M; Université Clermont Auvergne, Laboratoire Microbes Intestin Inflammation et Susceptibilité de l'Hôte (M2iSH), Clermont-Ferrand, France.
Barnich N; Université Clermont Auvergne, Laboratoire Microbes Intestin Inflammation et Susceptibilité de l'Hôte (M2iSH), Clermont-Ferrand, France.
Bidet Y; Université Clermont Auvergne, INSERM, U1240 Imagerie Moléculaire et Stratégies Théranostiques, Clermont Ferrand, France.; Département d'Oncogénétique, Centre Jean Perrin, Clermont-Ferrand, France.
Uhrhammer N; Université Clermont Auvergne, INSERM, U1240 Imagerie Moléculaire et Stratégies Théranostiques, Clermont Ferrand, France.; Département d'Oncogénétique, Centre Jean Perrin, Clermont-Ferrand, France.
Bignon YJ; Université Clermont Auvergne, INSERM, U1240 Imagerie Moléculaire et Stratégies Théranostiques, Clermont Ferrand, France.; Département d'Oncogénétique, Centre Jean Perrin, Clermont-Ferrand, France.
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Źródło :
Clinical genetics [Clin Genet] 2020 Apr; Vol. 97 (4), pp. 668-669. Date of Electronic Publication: 2019 Dec 26.
Typ publikacji :
Letter
Opinia redakcyjna
Tytuł :
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.
Autorzy :
Meulemans L; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Mesman RLS; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Caputo SM; Department of Genetics, Institut Curie, Paris, France.; PSL Research University, Paris, France.
Krieger S; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Laboratory of Cancer Biology and Genetics, Centre François Baclesse, Caen, France.; Normandie University, UNICAEN, Caen, France.
Guillaud-Bataille M; Department of Genetics, Institut Gustave Roussy, Villejuif, France.
Caux-Moncoutier V; Department of Genetics, Institut Curie, Paris, France.; PSL Research University, Paris, France.
Léone M; Hospices Civils de Lyon, Bron, France.
Boutry-Kryza N; Hospices Civils de Lyon, Bron, France.
Sokolowska J; Department of Genetics, Nancy University Hospital, Nancy, France.
Révillion F; Unit of Human Molecular Oncology, Centre Oscar Lambret, Lille, France.
Delnatte C; Department of Genetics, Nantes University Hospital, Nantes, France.
Tubeuf H; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Interactive Biosoftware, Rouen, France.
Soukarieh O; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Bonnet-Dorion F; Inserm U916, Department of Genetics, Institut Bergonié, Bordeaux, France.
Guibert V; Department of Genetics, Nantes University Hospital, Nantes, France.
Bronner M; Department of Genetics, Nancy University Hospital, Nancy, France.
Bourdon V; Department of Genetics, Institut Paoli-Calmettes, Marseille, France.
Lizard S; Department of Genetics, Nancy University Hospital, Nancy, France.
Vilquin P; Department of Pathology and Oncobiology, Montpellier University Hospital, Montpellier, France.
Privat M; University of Clermont Auvergne, Inserm U1240, Clermont Ferrand, France.; Department of Oncogenetics, Centre Jean Perrin, Clermont Ferrand, France.
Drouet A; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Grout C; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Calléja FMGR; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Golmard L; Department of Genetics, Institut Curie, Paris, France.; PSL Research University, Paris, France.
Vrieling H; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Stoppa-Lyonnet D; Department of Genetics, Institut Curie, Paris, France.; Inserm U830, University Paris Descartes, Paris, France.
Houdayer C; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Department of Genetics, Institut Curie, Paris, France.; Department of Genetics, Rouen University Hospital, Rouen, France.
Frebourg T; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Department of Genetics, Rouen University Hospital, Rouen, France.
Vreeswijk MPG; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Martins A; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Gaildrat P; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France. .
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Źródło :
Cancer research [Cancer Res] 2020 Apr 01; Vol. 80 (7), pp. 1374-1386. Date of Electronic Publication: 2020 Feb 11.
Typ publikacji :
Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alternative Splicing*
Genetic Predisposition to Disease*
BRCA2 Protein/*genetics
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Adult ; Aged ; Aged, 80 and over ; Animals ; Cell Line, Tumor ; Embryonic Stem Cells ; Exons/genetics ; Female ; Humans ; Loss of Function Mutation ; Male ; Mice ; Middle Aged ; Pedigree ; Polymorphism, Single Nucleotide ; Recombinant Proteins/genetics
Czasopismo naukowe
Tytuł :
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Autorzy :
Leman R; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.; Normandie Univ, UNICAEN, 14000 Caen, France.
Gaildrat P; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Le Gac G; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Ka C; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Fichou Y; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Audrezet MP; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Caux-Moncoutier V; Inserm U830, Institut Curie Centre de Recherches, 75005 Paris, France.; Université Paris Descartes, Sorbonne Paris Cité, 75005 Paris, France.; Service de Génétique, Institut Curie, 75005 Paris, France.
Caputo SM; Service de Génétique, Institut Curie, 75005 Paris, France.
Boutry-Kryza N; Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon, 69000 Lyon, France.
Léone M; Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon, 69000 Lyon, France.
Mazoyer S; Lyon Neuroscience Research Center-CRNL, Inserm U1028, CNRS UMR 5292, University of Lyon, 69008 Lyon, France.
Bonnet-Dorion F; Inserm U916, Département de Pathologie, Laboratoire de Génétique Constitutionnelle, Institut Bergonié, 33000 Bordeaux, France.
Sevenet N; Inserm U916, Département de Pathologie, Laboratoire de Génétique Constitutionnelle, Institut Bergonié, 33000 Bordeaux, France.
Guillaud-Bataille M; Gustave Roussy, Université Paris-Saclay, Département de Biopathologie, 94805 Villejuif, France.
Rouleau E; Gustave Roussy, Université Paris-Saclay, Département de Biopathologie, 94805 Villejuif, France.
Bressac-de Paillerets B; Gustave Roussy, Université Paris-Saclay, Département de Biopathologie, 94805 Villejuif, France.
Wappenschmidt B; Division of Molecular Gynaeco-Oncology, Department of Gynaecology and Obstetrics, University Hospital of Cologne, 50937 Cologne, Germany.
Rossing M; Centre for Genomic Medicine, Rigshospitalet, University of Copenhagen, 1017 Copenhagen, Denmark.
Muller D; Laboratoire d'Oncogénétique, Centre Paul Strauss, 67000 Strasbourg, France.
Bourdon V; Laboratoire d'Oncogénétique Moléculaire, Institut Paoli-Calmettes, 13009 Marseille, France.
Revillon F; Laboratoire d'Oncogénétique Moléculaire Humaine, Centre Oscar Lambret, 59000 Lille, France.
Parsons MT; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, 4006 Herston, Queensland, Australia.
Rousselin A; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Davy G; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Castelain G; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Castéra L; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Sokolowska J; Service de Génétique, CHU Nancy, 54035 Nancy, France.
Coulet F; Service de génétique, Hôpital Pitié Salpétrière, AP-HP, 75013 Paris, France.
Delnatte C; Laboratoire de génétique moléculaire, CHU Nantes, 44000 Nantes, France.
Férec C; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Spurdle AB; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, 4006 Herston, Queensland, Australia.
Martins A; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Krieger S; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.; Normandie Univ, UNICAEN, 14000 Caen, France.
Houdayer C; Inserm U830, Institut Curie Centre de Recherches, 75005 Paris, France.; Université Paris Descartes, Sorbonne Paris Cité, 75005 Paris, France.; Service de Génétique, Institut Curie, 75005 Paris, France.
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Źródło :
Nucleic acids research [Nucleic Acids Res] 2020 Feb 20; Vol. 48 (3), pp. 1600-1601.
Typ publikacji :
Journal Article; Published Erratum
Czasopismo naukowe
Tytuł :
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Autorzy :
Parsons MT; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Tudini E; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Li H; Cancer Control and Population Science, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah.
Hahnen E; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Wappenschmidt B; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Feliubadaló L; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
Aalfs CM; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands.
Agata S; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV, IRCCS, Padua, Italy.
Aittomäki K; Department of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Alducci E; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV, IRCCS, Padua, Italy.
Alonso-Cerezo MC; Clinical Genetics, Hospital Universitario de la Princesa, Instituto de Investigación Sanitaria, Madrid, Spain.
Arnold N; Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany.; Institute of Clinical Molecular Biology, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany.
Auber B; Institute of Human Genetics, Hannover Medical School, Hannover, Germany.
Austin R; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.
Azzollini J; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy.
Balmaña J; High Risk and Cancer Prevention Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain.; Department of Medical Oncology, University Hospital of Vall d'Hebron, Barcelona, Spain.
Barbieri E; Department of Oncology and Haematology, University of Modena and Reggio Emilia, Modena, Italy.
Bartram CR; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
Blanco A; Fundación Pública galega Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.
Blümcke B; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Bonache S; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.
Bonanni B; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan, Italy.
Borg Å; Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.
Bortesi B; Division of Oncology, University Hospital of Parma, Parma, Italy.
Brunet J; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
Bruzzone C; Unit of Hereditary Cancer, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Bucksch K; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
Cagnoli G; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy.
Caldés T; Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
Caliebe A; Institute of Human Genetics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany.
Caligo MA; SOD Genetica Molecolare, University Hospital, Pisa, Italy.
Calvello M; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan, Italy.
Capone GL; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Medical Genetics Unit, University of Florence, Florence, Italy.
Caputo SM; Service de Génétique, Institut Curie, Paris, France.; Paris Sciences Lettres Research University, Paris, France.
Carnevali I; UO Anatomia Patologica, Ospedale di Circolo ASST Settelaghi, Varese, Italy.
Carrasco E; High Risk and Cancer Prevention Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain.
Caux-Moncoutier V; Service de Génétique, Institut Curie, Paris, France.
Cavalli P; Servizio di Genetica, ASST di Cremona, Cremona, Italy.
Cini G; Division of Functional Onco-genomics and Genetics, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano, Italy.
Clarke EM; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Concolino P; Fondazione Policlinico Universitario A.Gemelli, IRCCS, Rome, Italy.
Cops EJ; Parkville Familial Cancer Centre, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia.
Cortesi L; Department of Oncology and Haematology, University of Modena and Reggio Emilia, Modena, Italy.
Couch FJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
Darder E; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
de la Hoya M; Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
Dean M; Laboratory of Translational Genomics, DCEG, National Cancer Institute, Gaithersburg, Maryland.
Debatin I; Institute of Human Genetics, University Hospital Ulm, Ulm, Germany.
Del Valle J; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
Delnatte C; Laboratoire de Genetique Moleculaire, CHU Nantes, Nantes, France.
Derive N; Service de Génétique, Institut Curie, Paris, France.; Paris Sciences Lettres Research University, Paris, France.
Diez O; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.; Clinical and Molecular Genetics Area, University Hospital Vall d'Hebron, Barcelona, Spain.
Ditsch N; Department of Gynecology and Obstetrics, University of Munich, Munich, Germany.
Domchek SM; Basser Center for BRCA, Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania.
Dutrannoy V; Institute of Medical and Human Genetics, Charité -Universitätsmedizin Berlin, Berlin, Germany.
Eccles DM; Faculty of Medicine, University of Southampton, Southampton, UK.
Ehrencrona H; Department of Clinical Genetics and Pathology, Laboratory Medicine, Office for Medical Services - Region Skåne, Lund, Sweden.; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.
Enders U; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
Evans DG; Genomic Medicine, Division of Evolution and Genomic Sciences, The University of Manchester, Manchester Academic Health Science Centre, Manchester Universities Foundation Trust, St. Mary's Hospital, Manchester, UK.; Genomic Medicine, North West Genomics hub, Manchester Academic Health Science Centre, Manchester Universities Foundation Trust, St. Mary's Hospital, Manchester, UK.
Farra C; Medical Genetics, American University of Beirut Medical Center, Beirut, Lebanon.
Faust U; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Felbor U; Institute of Human Genetics, University Medicine Greifswald, Greifswald, Germany.
Feroce I; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan, Italy.
Fine M; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, Australia.
Foulkes WD; Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montréal, QC, Canada.
Galvao HCR; Oncogenetics Department, Barretos Cancer Hospital, São Paulo, Brazil.
Gambino G; SOD Genetica Molecolare, University Hospital, Pisa, Italy.
Gehrig A; Department of Human Genetics, University of Würzburg, Würzburg, Germany.
Gensini F; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Medical Genetics Unit, University of Florence, Florence, Italy.
Gerdes AM; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Germani A; Department of Clinical and Molecular Medicine, Sant'Andrea University Hospital, Sapienza University, Rome, Italy.
Giesecke J; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Gismondi V; Unit of Hereditary Cancer, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Gómez C; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
Gómez Garcia EB; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
González S; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
Grau E; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
Grill S; Division of Gynaecology and Obstetrics, Klinikum rechts der Isar der Technischen, Universität München, Munich, Germany.
Gross E; Department of Gynecology and Obstetrics, University of Munich, Munich, Germany.
Guerrieri-Gonzaga A; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan, Italy.
Guillaud-Bataille M; Departement de Biopathologie, Gustave Roussy, Universite Paris-Saclay, Villejuif, France.
Gutiérrez-Enríquez S; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.
Haaf T; Department of Human Genetics, University of Würzburg, Würzburg, Germany.
Hackmann K; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany.
Hansen TVO; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Harris M; Familial Cancer Centre, Monash Health, Clayton, Australia.
Hauke J; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Heinrich T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Hellebrand H; Division of Gynaecology and Obstetrics, Klinikum rechts der Isar der Technischen, Universität München, Munich, Germany.
Herold KN; The City of Hope, Duarte, California.
Honisch E; Department of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany.
Horvath J; Institute of Human Genetics, University of Münster, Münster, Germany.
Houdayer C; Department of Genetics, F76000 and Normandy University, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, Rouen, France.
Hübbel V; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Iglesias S; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
Izquierdo A; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
James PA; Parkville Familial Cancer Centre, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia.; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia.
Janssen LAM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Jeschke U; Department of Gynecology and Obstetrics, University of Munich, Munich, Germany.
Kaulfuß S; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Keupp K; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Kiechle M; Division of Gynaecology and Obstetrics, Klinikum rechts der Isar der Technischen, Universität München, Munich, Germany.
Kölbl A; Department of Gynecology and Obstetrics, University of Munich, Munich, Germany.
Krieger S; Laboratoire de Biologie Clinique et Oncologique, Centre Francois Baclesse, Caen, France.; Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Normandie Université, UNICAEN, Caen, France.
Kruse TA; Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark.
Kvist A; Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.
Lalloo F; Genomic Medicine, North West Genomics hub, Manchester Academic Health Science Centre, Manchester Universities Foundation Trust, St. Mary's Hospital, Manchester, UK.
Larsen M; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Lattimore VL; Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
Lautrup C; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.; Clinical Cancer Research Center, Aalborg University Hospital, Aalborg, Denmark.
Ledig S; Institute of Human Genetics, University of Münster, Münster, Germany.
Leinert E; Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany.
Lewis AL; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
Lim J; Breast Cancer Research Programme, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia.
Loeffler M; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
López-Fernández A; High Risk and Cancer Prevention Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain.
Lucci-Cordisco E; UOC Genetica Medica, Fondazione Policlinico Universitario A.Gemelli IRCCS and Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy.
Maass N; Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany.
Manoukian S; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy.
Marabelli M; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan, Italy.
Matricardi L; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV, IRCCS, Padua, Italy.
Meindl A; Department of Gynecology and Obstetrics, University of Munich, Munich, Germany.
Michelli RD; Oncogenetics Department, Barretos Cancer Hospital, São Paulo, Brazil.
Moghadasi S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Moles-Fernández A; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.
Montagna M; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV, IRCCS, Padua, Italy.
Montalban G; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.
Monteiro AN; Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida.
Montes E; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
Mori L; Department of Clinical and Experimental Science, University of Brescia c/o 2nd Internal Medicine, Hospital of Brescia, Brescia, Italy.
Moserle L; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV, IRCCS, Padua, Italy.
Müller CR; Department of Human Genetics, University of Würzburg, Würzburg, Germany.
Mundhenke C; Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany.
Naldi N; Division of Oncology, University Hospital of Parma, Parma, Italy.
Nathanson KL; Basser Center for BRCA, Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania.
Navarro M; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
Nevanlinna H; Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Nichols CB; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.
Niederacher D; Department of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany.
Nielsen HR; Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark.
Ong KR; West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Birmingham, UK.
Pachter N; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Faculty of Health and Medical Sciences, University of Western Australia, Perth, Australia.
Palmero EI; Molecular Oncology Research Center, Barretos Cancer Hospital, São Paulo, Brazil.; Barretos School of Health Sciences, Dr. Paulo Prata - FACISB, São Paulo, Brazil.
Papi L; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Medical Genetics Unit, University of Florence, Florence, Italy.
Pedersen IS; Clinical Cancer Research Center, Aalborg University Hospital, Aalborg, Denmark.; Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark.; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark.
Peissel B; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy.
Perez-Segura P; Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
Pfeifer K; Division of Gynaecology and Obstetrics, Klinikum rechts der Isar der Technischen, Universität München, Munich, Germany.
Pineda M; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
Pohl-Rescigno E; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Poplawski NK; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, Australia.; School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, Australia.
Porfirio B; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Medical Genetics Unit, University of Florence, Florence, Italy.
Quante AS; Division of Gynaecology and Obstetrics, Klinikum rechts der Isar der Technischen, Universität München, Munich, Germany.
Ramser J; Division of Gynaecology and Obstetrics, Klinikum rechts der Isar der Technischen, Universität München, Munich, Germany.
Reis RM; Molecular Oncology Research Center, Barretos Cancer Hospital, São Paulo, Brazil.; Health Sciences School, University of Minho, Braga, Portugal.; ICVS/3B's-PT Government Associate Laboratory, Braga, Portugal.
Revillion F; Laboratoire d'Oncogenetique Moleculaire Humaine, Centre Oscar Lambret, Lille, France.
Rhiem K; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Riboli B; Servizio di Genetica, ASST di Cremona, Cremona, Italy.
Ritter J; Institute of Medical and Human Genetics, Charité -Universitätsmedizin Berlin, Berlin, Germany.
Rivera D; Unit of Hereditary Cancer, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Rofes P; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
Rump A; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany.
Salinas M; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
Sánchez de Abajo AM; Servicio de Análisis Clínicos y Bioquímica Clínica, Complejo Hospitalario, Universitario Insular Materno-Infantil de Gran Canaria, Las Palmas de Gran Canaría, Spain.
Schmidt G; Institute of Human Genetics, Hannover Medical School, Hannover, Germany.
Schoenwiese U; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
Seggewiß J; Institute of Human Genetics, University of Münster, Münster, Germany.
Solanes A; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
Steinemann D; Institute of Human Genetics, Hannover Medical School, Hannover, Germany.
Stiller M; Institute of Human Genetics, University Hospital Leipzig, Leipzig, Germany.
Stoppa-Lyonnet D; Service de Génétique, Institut Curie, Paris, France.; Department of Tumour Biology, INSERM U830, Paris, France.; Université Paris Descartes, Paris, France.
Sullivan KJ; Genetic Health Service NZ- Northern Hub, Auckland District Health Board, Auckland, New Zealand.
Susman R; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.
Sutter C; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
Tavtigian SV; Department of Oncological Services, University of Utah School of Medicine, Salt Lake City, Utah.; Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah.
Teo SH; Breast Cancer Research Programme, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia.; Department of Surgery, Faculty of Medicine, University Malaya, Kuala Lumpur, Malaysia.
Teulé A; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
Thomassen M; Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark.
Tibiletti MG; UO Anatomia Patologica, Ospedale di Circolo ASST Settelaghi, Varese, Italy.
Tischkowitz M; Department of Medical Genetics, University of Cambridge, Cambridge, UK.
Tognazzo S; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV, IRCCS, Padua, Italy.
Toland AE; Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio.
Tornero E; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
Törngren T; Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.
Torres-Esquius S; High Risk and Cancer Prevention Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain.
Toss A; Department of Oncology and Haematology, University of Modena and Reggio Emilia, Modena, Italy.
Trainer AH; Parkville Familial Cancer Centre, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia.; Department of medicine, University of Melbourne, Melbourne, Victoria, Australia.
Tucker KM; Prince of Wales Clinical School, University of NSW, Sydney, New South Wales, Australia.; Hereditary Cancer Clinic, Department of Medical Oncology, Prince of Wales Hospital, Randwick, New South Wales, Australia.
van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
van Mackelenbergh MT; Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany.
Varesco L; Unit of Hereditary Cancer, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Vargas-Parra G; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
Varon R; Institute of Medical and Human Genetics, Charité -Universitätsmedizin Berlin, Berlin, Germany.
Vega A; Fundación Pública galega Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.
Velasco Á; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
Vesper AS; Department of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany.
Viel A; Division of Functional Onco-genomics and Genetics, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano, Italy.
Vreeswijk MPG; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Wagner SA; Department of Medicine, Hematology/Oncology, Goethe-University Frankfurt, Frankfurt, Germany.
Waha A; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Walker LC; Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
Walters RJ; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Wang-Gohrke S; Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany.
Weber BHF; Institute of Human Genetics, University Regensburg, Regensberg, Germany.
Weichert W; Institute of Pathology, Technische Universität München, Munich, Germany.
Wieland K; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
Wiesmüller L; Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany.
Witzel I; Department of Gynecology, University Medical Center Hamburg, Hamburg, Germany.
Wöckel A; Department of Gynecology and Obstetrics, University Hospital Würzburg, Würzburg, Germany.
Woodward ER; Genomic Medicine, Division of Evolution and Genomic Sciences, The University of Manchester, Manchester Academic Health Science Centre, Manchester Universities Foundation Trust, St. Mary's Hospital, Manchester, UK.; Genomic Medicine, North West Genomics hub, Manchester Academic Health Science Centre, Manchester Universities Foundation Trust, St. Mary's Hospital, Manchester, UK.
Zachariae S; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
Zampiga V; Biosciences Laboratory, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, Meldola, Italy.
Zeder-Göß C; Department of Gynecology and Obstetrics, University of Munich, Munich, Germany.
Lázaro C; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
De Nicolo A; Cancer Genomics Program, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.
Radice P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy.
Engel C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
Schmutzler RK; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Goldgar DE; Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah.
Spurdle AB; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
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Corporate Authors :
KConFab Investigators; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia.; Research Department, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia.
Źródło :
Human mutation [Hum Mutat] 2019 Sep; Vol. 40 (9), pp. 1557-1578.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Mutation, Missense*
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Computational Biology/*methods
Neoplasms/*diagnosis
Alternative Splicing ; Early Detection of Cancer ; Female ; Genetic Predisposition to Disease ; Humans ; Likelihood Functions ; Male ; Multifactorial Inheritance ; Neoplasms/genetics
Czasopismo naukowe
Tytuł :
"Decoding hereditary breast cancer" benefits and questions from multigene panel testing.
Autorzy :
Colas C; Department of Genetics, Institut Curie, Paris, France; Paris Sciences Lettres Research University, Paris, France.
Golmard L; Department of Genetics, Institut Curie, Paris, France; Paris Sciences Lettres Research University, Paris, France.
de Pauw A; Department of Genetics, Institut Curie, Paris, France; Paris Sciences Lettres Research University, Paris, France.
Caputo SM; Department of Genetics, Institut Curie, Paris, France; Paris Sciences Lettres Research University, Paris, France.
Stoppa-Lyonnet D; Department of Genetics, Institut Curie, Paris, France; Paris Descartes Sorbonne-Paris-Cité University, Paris, France; INSERM U830, Institut Curie Paris, Paris, France. Electronic address: .
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Źródło :
Breast (Edinburgh, Scotland) [Breast] 2019 Jun; Vol. 45, pp. 29-35. Date of Electronic Publication: 2019 Jan 08.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Genetic Predisposition to Disease*
Breast Neoplasms/*genetics
Early Detection of Cancer/*standards
Genetic Testing/*standards
Sequence Analysis/*standards
Biomarkers, Tumor/genetics ; Early Detection of Cancer/methods ; Female ; Genes, BRCA1 ; Genes, BRCA2 ; Genetic Testing/methods ; Genetic Variation ; Humans ; Ovarian Neoplasms/genetics ; Reproducibility of Results ; Sequence Analysis/methods
SCR Disease Name :
Breast Cancer, Familial
Czasopismo naukowe
Tytuł :
Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.
Autorzy :
Qian F; Department of Medicine, The University of Chicago, Chicago, IL.
Wang S; Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL.; Department of Epidemiology and Biostatistics, School of Public Health, Peking University Health Science Center, Beijing, China.
Mitchell J; Division of Gastroenterology, Department of Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, PA.
McGuffog L; Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Barrowdale D; Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Leslie G; Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Oosterwijk JC; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Chung WK; Departments of Pediatrics and Medicine, Columbia University, New York, NY.
Evans DG; Division of Evolution and Genomic Sciences, Genomic Medicine, Manchester Academic Health Sciences Centre, University of Manchester, Central Manchester University Hospitals, NHS Foundation Trust, Manchester, UK.
Engel C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.; LIFE - Leipzig Research Centre for Civilization Diseases, University of Leipzig, Leipzig, Germany.
Kast K; Department of Gynecology and Obstetrics, Technical University of Dresden, Dresden, Germany.; Department of Clinical Genetics and GROW, School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.
Aalfs CM; Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands.; Center for Medical Genetics, NorthShore University HealthSystem, Evanston, IL.; The University of Chicago Pritzker School of Medicine, Chicago, IL.
Adank MA; Family Cancer Clinic, Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
Adlard J; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.; Department of Clinical Genetics and GROW, School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.
Agnarsson BA; Department of Pathology, National Institute of Oncology, Budapest, Hungary.; School of Medicine, University of Iceland, Reykjavik, Iceland.
Aittomäki K; Department of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Alducci E; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy.; Department of Clinical Genetics and GROW, School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.
Andrulis IL; Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
Arun BK; Department of Breast Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX.
Ausems MGEM; Department of Medical Genetics, University Medical Center, Utrecht, the Netherlands.
Azzollini J; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy.
Barouk-Simonet E; Oncogénétique, Institut Bergonié, Bordeaux, France.; Department of Pathology and Laboratory Medicine, Kansas University Medical Center, Kansas City, KS.
Barwell J; Leicestershire Clinical Genetics Service, University Hospitals of Leicester NHS Trust, Leicester, UK.; Genetic Counseling Unit, Hereditary Cancer Program, IDIBGI (Institut d'Investigació Biomèdica de Girona), Catalan Institute of Oncology, CIBERONC, Girona, Spain.
Belotti M; Service de Génétique, Institut Curie, Paris, France.
Benitez J; Schools of Medicine and Public Health, Division of Cancer Prevention & Control Research, Jonsson Comprehensive Cancer Center, University of California Los Angeles, CA.
Berger A; Department of Oncology, Lund University and Skåne University Hospital, Lund, Sweden.
Borg A; Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, MA.; Institute of Genetic Medicine, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, UK.
Bradbury AR; Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
Brunet J; Service de Génétique, Institut Curie, Paris, France.; Human Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain.; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Valencia, Spain, Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria.
Buys SS; Department of Medicine, Huntsman Cancer Institute at the University of Utah, Salt Lake City, UT.
Caldes T; Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC, CIBERONC, Madrid, Spain.
Caligo MA; Section of Genetic Oncology, Department of Laboratory Medicine, University and University Hospital of Pisa, Pisa, Italy.
Campbell I; Peter MacCallum Cancer Center, Melbourne, Victoria, Australia.; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia.
Caputo SM; Leicestershire Clinical Genetics Service, University Hospitals of Leicester NHS Trust, Leicester, UK.; Service de Génétique, Institut Curie, Paris, France.
Chiquette J; Unité de recherche en santé des populations, Centre des maladies du sein Deschênes-Fabia, Hôpital du Saint-Sacrement, Québec, QC, Canada.
Claes KBM; Centre for Medical Genetics, Ghent University, Ghent, Belgium.
Margriet Collée J; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.
Couch FJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
Coupier I; Unité d'Oncogénétique, CHU Arnaud de Villeneuve, Montpellier, France.
Daly MB; Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA.
Davidson R; Department of Clinical Genetics, South Glasgow University Hospitals, Glasgow, UK.
Diez O; N.N. Petrov Institute of Oncology, St. Petersburg, Russia.
Domchek SM; Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
Donaldson A; Oncogenetics Group, Clinical and Molecular Genetics Area, Vall d'Hebron Institute of Oncology (VHIO), University Hospital, Vall d'Hebron, Barcelona, Spain (OD); Clinical Genetics Department, St Michael's Hospital, Bristol, UK.
Dorfling CM; Department of Genetics, University of Pretoria, Arcadia, South Africa.; City of Hope Clinical Cancer Genetics Community Research Network, Duarte, CA.
Eeles R; Ocogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, London, UK.
Feliubadaló L; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
Foretova L; Molecular Diagnostic Unit, Hereditary Cancer Program, ICO-IDIBELL (Catalan Institute of Oncology, Bellvitge Biomedical Research Institute), CIBERONC, Barcelona, Spain.; Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.
Fowler J; The Ohio State University, Columbus Cancer Council, Columbus, OH.
Friedman E; The Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.
Frost D; Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Ganz PA; Schools of Medicine and Public Health, Division of Cancer Prevention & Control Research, Jonsson Comprehensive Cancer Center, University of California Los Angeles, CA.
Garber J; Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, MA.
Garcia-Barberan V; Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC, CIBERONC, Madrid, Spain.
Glendon G; Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada.
Godwin AK; Department of Pathology and Laboratory Medicine, Kansas University Medical Center, Kansas City, KS.
Gómez Garcia EB; Department of Clinical Genetics and GROW, School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.
Gronwald J; Department of Clinical Genetics and GROW, School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.
Hahnen E; Centers for Hereditary Breast and Ovarian Cancer, Integrated Oncology and Molecular Medicine, University Hospital of Cologne, Cologne, Germany Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Hamann U
Henderson A; Institute of Genetic Medicine, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, UK.
Hendricks CB; City of Hope Clinical Cancer Genetics Community Research Network, Duarte, CA.
Hopper JL; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
Hulick PJ; Center for Medical Genetics, NorthShore University HealthSystem, Evanston, IL.; The University of Chicago Pritzker School of Medicine, Chicago, IL.
Imyanitov EN; N.N. Petrov Institute of Oncology, St. Petersburg, Russia.
Isaacs C; Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC (CI).
Izatt L; Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Izquierdo Á; Genetic Counseling Unit, Hereditary Cancer Program, IDIBGI (Institut d'Investigació Biomèdica de Girona), Catalan Institute of Oncology, CIBERONC, Girona, Spain.
Jakubowska A; Department of Clinical Genetics and GROW, School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.
Kaczmarek K; Department of Clinical Genetics and GROW, School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.
Kang E; Department of Surgery, Seoul National University Bundang Hospital, Seongnam, Korea.
Karlan BY; Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA.
Kets CM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Kim SW; Department of Surgery, Daerim Saint Mary's Hospital, Seoul, Korea.
Kim Z; Department of Surgery, Soonchunhyang University Hospital Bucheon, Bucheon, Korea.
Kwong A; Hong Kong Hereditary Breast Cancer Family Registry, Happy Valley, Hong Kong.; Department of Surgery, The University of Hong Kong, Pok Fu Lam, Hong Kong.; Department of Surgery, Hong Kong Sanatorium and Hospital, Happy Valley, Hong Kong.
Laitman Y; The Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Ramat Gan, Israel.
Lasset C; Unité de Prévention et d'Epidémiologie Génétique, Centre Léon Bérard, Lyon, France.
Hyuk Lee M; Department of Surgery, Soonchunhyang University College of Medicine and Soonchunhyang University Hospital, Seoul, Korea.
Won Lee J; Department of Surgery, Ulsan University College of Medicine and Asan Medical Center, Seoul, Korea.
Lee J; Department of Clinical Genetics and GROW, School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.; Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA.; Department of Surgery, Soonchunhyang University College of Medicine and Soonchunhyang University Hospital, Seoul, Korea.
Lester J; Department of Clinical Genetics and GROW, School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.
Lesueur F; Genetic Epidemiology of Cancer team, Institut Curie, Paris, France.; U900, INSERM, Paris, France.; PSL University, Paris, France.; Mines ParisTech, Fontainebleau, France.
Loud JT; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD.
Lubinski J; Department of Clinical Genetics and GROW, School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.
Mebirouk N; Genetic Epidemiology of Cancer team, Institut Curie, Paris, France.; U900, INSERM, Paris, France.; PSL University, Paris, France.; Mines ParisTech, Fontainebleau, France.
Meijers-Heijboer HEJ; Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands.
Meindl A; Division of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany.; NRG Oncology, Statistics and Data Management Center, Roswell Park Cancer Institute, Buffalo, NY.
Miller A; Division of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany.
Montagna M; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Mooij TM; Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, the Netherlands.
Morrison PJ; Centre for Cancer Research and Cell Biology, Queens University Belfast, Belfast, UK.
Mouret-Fourme E; Service de Génétique, Institut Curie, Paris, France.
Nathanson KL
Neuhausen SL; Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA.
Nevanlinna H; Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Niederacher D; Department of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany.
Nielsen FC; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Nussbaum RL; Cancer Genetics and Prevention Program, University of California San Francisco, San Francisco, CA.
Offit K; Clinical Genetics Research Laboratory, Department of Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, NY.; Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY.
Olah E; Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.
Ong KR; West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Birmingham, UK.
Ottini L; Department of Molecular Medicine, University La Sapienza, Rome, Italy.
Park SK; Departments of Preventive Medicine and Biomedical Sciences, and Cancer Research Institute, Seoul National University, Seoul, Korea.
Peterlongo P; IFOM, The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy.
Pfeiler G; Department of Urology, Medical University of Vienna, Vienna, Austria.
Phelan CM; Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL.
Poppe B; Centre for Medical Genetics, Ghent University, Ghent, Belgium.
Pradhan N; Clinical Genetics Research Laboratory, Department of Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, NY.
Radice P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy.
Ramus SJ; School of Women's and Children's Health, University of New South Wales Sydney, New South Wales, Australia.; The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
Rantala J; Clinical Genetics, Karolinska Institutet, Stockholm, Sweden.
Robson M; Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY.
Rodriguez GC; Division of Gynecologic Oncology, NorthShore University HealthSystem, University of Chicago, Evanston, IL.
Schmutzler RK; Centers for Hereditary Breast and Ovarian Cancer, Integrated Oncology and Molecular Medicine, University Hospital of Cologne, Cologne, Germany Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Hutten Selkirk CG; Center for Medical Genetics, NorthShore University HealthSystem, Evanston, IL.
Shah PD; Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
Simard J; Laboratoire de génétique médicale, Nancy Université, Centre Hospitalier Régional et Universitaire, Vandoeuvre-les-Nancy, France.
Singer CF; Department of Obstetrics and Gynecology and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Sokolowska J; Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, QC, Canada.
Stoppa-Lyonnet D; Department of Tumour Biology, Institut Curie, INSERM U830, Paris, France.; Université Paris Descartes, Paris, France.
Sutter C; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
Yen Tan Y; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Valencia, Spain, Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria.
Teixeira RM; Department of Genetics, Portuguese Oncology Institute, Porto, Portugal.; Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal.
Teo SH; Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia.; Breast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, Kuala Lumpur, Malaysia.
Terry MB; Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY.
Thomassen M; Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark.
Tischkowitz M; Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montréal, QC, Canada.; Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK.
Toland AE; Department of Cancer Biology and Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, OH.
Tucker KM; School of Medicine, University of New South Wales, Sydney, New South Wales, Australia.; Hereditary Cancer Centre, Prince of Wales Hospital, Sydney, New South Wales, Australia.
Tung N; Department of Medical Oncology, Beth Israel Deaconess Medical Center, Boston, MA.
van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
van Engelen K; Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands.
van Rensburg EJ; Department of Genetics, University of Pretoria, Arcadia, South Africa.
Wang-Gohrke S; Department of Gynaecology and Obstetrics, University of Ulm, Ulm, Germany.
Wappenschmidt B; Centers for Hereditary Breast and Ovarian Cancer, Integrated Oncology and Molecular Medicine, University Hospital of Cologne, Cologne, Germany Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Weitzel JN; Clinical Cancer Genetics, City of Hope, Duarte, CA.
Yannoukakos D; Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece.
Greene MH; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD.
Rookus MA; Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, the Netherlands.
Easton DF; Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Chenevix-Trench G; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Antoniou AC; Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Goldgar DE; Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT.
Olopade OI; Department of Medicine, The University of Chicago, Chicago, IL.
Rebbeck TR; Harvard T.H. Chan School of Public Health, Boston, MA.; Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA.
Huo D; Department of Medicine, The University of Chicago, Chicago, IL.; Department of Public Health Sciences, The University of Chicago, Chicago, IL (DH).
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Corporate Authors :
GEMO Study Collaborators
HEBON
EMBRACE
Źródło :
Journal of the National Cancer Institute [J Natl Cancer Inst] 2019 Apr 01; Vol. 111 (4), pp. 350-364.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Body Height*
Body Mass Index*
Mendelian Randomization Analysis*
Mutation*
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Breast Neoplasms/*etiology
Adult ; Breast Neoplasms/pathology ; Female ; Genetic Predisposition to Disease ; Humans ; Polymorphism, Single Nucleotide ; Prognosis ; Risk Factors
Czasopismo naukowe
Tytuł :
Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk.
Autorzy :
Petitalot A; Service de Génétique, Département de Biologie des Tumeurs, Institut Curie, Paris, France.; Institut de Biologie Intégrative de la Cellule, CEA, CNRS, Université Paris Sud, UMR 9198, Université Paris-Saclay, Gif-sur-Yvette, France.
Dardillac E; Institut Gustave Roussy, CNRS UMR 8200, Université Paris-Saclay, Villejuif, France.; Team labeled 'Ligue 2014,' Villejuif, France.
Jacquet E; Institut de Chimie des Substances Naturelles, CNRS UPR 2301, Université Paris-Saclay, Gif-sur-Yvette, France.
Nhiri N; Institut de Chimie des Substances Naturelles, CNRS UPR 2301, Université Paris-Saclay, Gif-sur-Yvette, France.
Guirouilh-Barbat J; Institut Gustave Roussy, CNRS UMR 8200, Université Paris-Saclay, Villejuif, France.; Team labeled 'Ligue 2014,' Villejuif, France.
Julien P; Service de Génétique, Département de Biologie des Tumeurs, Institut Curie, Paris, France.
Bouazzaoui I; Institut de Biologie Intégrative de la Cellule, CEA, CNRS, Université Paris Sud, UMR 9198, Université Paris-Saclay, Gif-sur-Yvette, France.
Bonte D; Institut Gustave Roussy, CNRS UMR 8200, Université Paris-Saclay, Villejuif, France.
Feunteun J; Institut Gustave Roussy, CNRS UMR 8200, Université Paris-Saclay, Villejuif, France.
Schnell JA; Institut de Chimie des Substances Naturelles, CNRS UPR 2301, Université Paris-Saclay, Gif-sur-Yvette, France.
Lafitte P; Service de Génétique, Département de Biologie des Tumeurs, Institut Curie, Paris, France.
Aude JC; Institut de Biologie Intégrative de la Cellule, CEA, CNRS, Université Paris Sud, UMR 9198, Université Paris-Saclay, Gif-sur-Yvette, France.
Noguès C; Service de Génétique, Département de Biologie des Tumeurs, Institut Curie, Paris, France.
Rouleau E; Service de Génétique, Département de Biologie des Tumeurs, Institut Curie, Paris, France.
Lidereau R; Service de Génétique, Département de Biologie des Tumeurs, Institut Curie, Paris, France.
Lopez BS; Institut Gustave Roussy, CNRS UMR 8200, Université Paris-Saclay, Villejuif, France.; Team labeled 'Ligue 2014,' Villejuif, France.
Zinn-Justin S; Institut de Biologie Intégrative de la Cellule, CEA, CNRS, Université Paris Sud, UMR 9198, Université Paris-Saclay, Gif-sur-Yvette, France. sandrine.caputo@curie.fr .
Caputo SM
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Corporate Authors :
UNICANCER Genetic Group BRCA network
Źródło :
Molecular cancer research : MCR [Mol Cancer Res] 2019 Jan; Vol. 17 (1), pp. 54-69. Date of Electronic Publication: 2018 Sep 26.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
BRCA1 Protein/*genetics
BRCA1 Protein/*metabolism
Breast Neoplasms/*genetics
Breast Neoplasms/*metabolism
Phosphopeptides/*genetics
Phosphopeptides/*metabolism
Animals ; Breast Neoplasms/pathology ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Homologous Recombination ; Humans ; Mice ; Models, Molecular ; Mutation, Missense ; Risk Factors
Czasopismo naukowe
Tytuł :
BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.
Autorzy :
Burke LJ; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia.
Sevcik J; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia.; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Gambino G; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia.; Section of Molecular Genetics, Department of Laboratory Medicine, University Hospital of Pisa, Pisa, Italy.
Tudini E; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia.; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Mucaki EJ; University of Western Ontario, Department of Biochemistry, Schulich School of Medicine and Dentistry, London, Ontario, Canada.
Shirley BC; CytoGnomix Inc., London, Ontario, Canada.
Whiley P; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia.; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Parsons MT; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
De Leeneer K; Center for Medical Genetics, Ghent University Hospital, and Cancer Research Institute Ghent (CRIG), Ghent University, Ghent, Belgium.
Gutiérrez-Enríquez S; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.
Santamariña M; Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.
Caputo SM; Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris, France.
Santana Dos Santos E; Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris, France.; Department of oncology, Center for Translational Oncology, Cancer Institute of the State of São Paulo - ICESP, São Paulo, Brazil.; A.C.Camargo Cancer Center, São Paulo, Brazil.
Soukupova J; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Janatova M; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Zemankova P; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Lhotova K; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Stolarova L; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Borecka M; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Moles-Fernández A; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.
Manoukian S; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy.
Bonanni B; Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy.
Edwards SL; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Blok MJ; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
van Overeem Hansen T; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Rossing M; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Diez O; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.; Area of Clinical and Molecular Genetics, University Hospital Vall d'Hebron (UHVH), Barcelona, Spain.
Vega A; Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.
Claes KBM; Center for Medical Genetics, Ghent University Hospital, and Cancer Research Institute Ghent (CRIG), Ghent University, Ghent, Belgium.
Goldgar DE; Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah.
Rouleau E; Gustave Roussy, Villejuif, France.
Radice P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy.
Peterlongo P; IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy.
Rogan PK; University of Western Ontario, Department of Biochemistry, Schulich School of Medicine and Dentistry, London, Ontario, Canada.; CytoGnomix Inc., London, Ontario, Canada.
Caligo M; Section of Molecular Genetics, Department of Laboratory Medicine, University Hospital of Pisa, Pisa, Italy.
Spurdle AB; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Brown MA; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia.
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Corporate Authors :
ENIGMA Consortium; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia.
Źródło :
Human mutation [Hum Mutat] 2018 Dec; Vol. 39 (12), pp. 2025-2039. Date of Electronic Publication: 2018 Sep 24.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Germ-Line Mutation*
Promoter Regions, Genetic*
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Breast Neoplasms/*genetics
5' Untranslated Regions ; Age of Onset ; BRCA1 Protein/chemistry ; BRCA1 Protein/metabolism ; BRCA2 Protein/chemistry ; BRCA2 Protein/metabolism ; CCAAT-Binding Factor/metabolism ; Cell Line, Tumor ; Female ; Genetic Predisposition to Disease ; Humans ; MCF-7 Cells ; PAX5 Transcription Factor/metabolism ; Protein Binding
SCR Disease Name :
Breast Cancer, Familial
Czasopismo naukowe
Tytuł :
Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Autorzy :
Leman R; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.; Normandie Univ, UNICAEN, 14000 Caen, France.
Gaildrat P; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Gac GL; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Ka C; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Fichou Y; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Audrezet MP; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Caux-Moncoutier V; Inserm U830, Institut Curie Centre de Recherches, 75005 Paris, France.; Université Paris Descartes, Sorbonne Paris Cité, 75005 Paris, France.; Service de Génétique, Institut Curie, 75005 Paris, France.
Caputo SM; Service de Génétique, Institut Curie, 75005 Paris, France.
Boutry-Kryza N; Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon, 69000 Lyon, France.
Léone M; Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon, 69000 Lyon, France.
Mazoyer S; Lyon Neuroscience Research Center-CRNL, Inserm U1028, CNRS UMR 5292, University of Lyon, 69008 Lyon, France.
Bonnet-Dorion F; Inserm U916, Département de Pathologie, Laboratoire de Génétique Constitutionnelle, Institut Bergonié, 33000 Bordeaux, France.
Sevenet N; Inserm U916, Département de Pathologie, Laboratoire de Génétique Constitutionnelle, Institut Bergonié, 33000 Bordeaux, France.
Guillaud-Bataille M; Gustave Roussy, Université Paris-Saclay, Département de Biopathologie, 94805 Villejuif, France.
Rouleau E; Gustave Roussy, Université Paris-Saclay, Département de Biopathologie, 94805 Villejuif, France.
Paillerets BB; Gustave Roussy, Université Paris-Saclay, Département de Biopathologie, 94805 Villejuif, France.
Wappenschmidt B; Division of Molecular Gynaeco-Oncology, Department of Gynaecology and Obstetrics, University Hospital of Cologne, 50937 Cologne, Germany.
Rossing M; Centre for Genomic Medicine, Rigshospitalet, University of Copenhagen, 1017 Copenhagen, Denmark.
Muller D; Laboratoire d'Oncogénétique, Centre Paul Strauss, 67000 Strasbourg, France.
Bourdon V; Laboratoire d'Oncogénétique Moléculaire, Institut Paoli-Calmettes, 13009 Marseille, France.
Revillon F; Laboratoire d'Oncogénétique Moléculaire Humaine, Centre Oscar Lambret, 59000 Lille, France.
Parsons MT; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, 4006 Herston, Queensland, Australia.
Rousselin A; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Davy G; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Castelain G; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Castéra L; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Sokolowska J; Service de Génétique, CHU Nancy, 54035 Nancy, France.
Coulet F; Service de génétique, Hôpital Pitié Salpétrière, AP-HP, 75013 Paris, France.
Delnatte C; Laboratoire de génétique moléculaire, CHU Nantes, 44000 Nantes, France.
Férec C; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Spurdle AB; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, 4006 Herston, Queensland, Australia.
Martins A; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Krieger S; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.; Normandie Univ, UNICAEN, 14000 Caen, France.
Houdayer C; Inserm U830, Institut Curie Centre de Recherches, 75005 Paris, France.; Université Paris Descartes, Sorbonne Paris Cité, 75005 Paris, France.; Service de Génétique, Institut Curie, 75005 Paris, France.
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Źródło :
Nucleic acids research [Nucleic Acids Res] 2018 Nov 30; Vol. 46 (21), pp. 11656-11657.
Typ publikacji :
Journal Article; Published Erratum
Czasopismo naukowe
Tytuł :
Non-Coding Variants in BRCA1 and BRCA2 Genes: Potential Impact on Breast and Ovarian Cancer Predisposition.
Autorzy :
Santana Dos Santos E; A.C.Camargo Cancer Center, São Paulo 01509-010, Brazil. .; Department of Oncology, Center for Translational Oncology, Cancer Institute of the State of São Paulo-ICESP, São Paulo 01246-000, Brazil. .; Department of Genetics, Institut Curie, 75005 Paris, France. .
Lallemand F; Department of Genetics, Institut Curie, 75005 Paris, France. .; Institut Curie, Paris Sciences Lettres Research University, 75230 Paris, France. .
Burke L; School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, QLD 4072, Australia. .
Stoppa-Lyonnet D; Department of Genetics, Institut Curie, 75005 Paris, France. .; Department of Genetics at Institut Curie, Université Paris Descartes, 75006 Paris, France. .; INSERM U830, Institut Curie, 75248 Paris, France. .
Brown M; School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, QLD 4072, Australia. .
Caputo SM; Department of Genetics, Institut Curie, 75005 Paris, France. sandrine.caputo@curie.fr.; Institut Curie, Paris Sciences Lettres Research University, 75230 Paris, France. sandrine.caputo@curie.fr.
Rouleau E; Institut Gustave Roussy, 94805 Villejuif, France. .
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Źródło :
Cancers [Cancers (Basel)] 2018 Nov 16; Vol. 10 (11). Date of Electronic Publication: 2018 Nov 16.
Typ publikacji :
Journal Article; Review
Czasopismo naukowe
Tytuł :
GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.
Autorzy :
Lesueur F; INSERM, U900, Institut Curie, PSL Research University, Mines ParisTech, Paris, France.
Mebirouk N; INSERM, U900, Institut Curie, PSL Research University, Mines ParisTech, Paris, France.
Jiao Y; Service de Génétique, Institut Curie, Paris, France.
Barjhoux L; Biopathologie, Centre Léon Bérard, Lyon, France.
Belotti M; Service de Génétique, Institut Curie, Paris, France.
Laurent M; Service de Génétique, Institut Curie, Paris, France.
Léone M; Hospices Civils de Lyon, Groupement Hospitalier EST, Bron, France.
Houdayer C; Service de Génétique, Institut Curie, Paris, France.
Bressac-de Paillerets B; Gustave Roussy, Université Paris-Saclay, Département de Biopathologie et INSERM U1186, Villejuif, France.
Vaur D; Département de Biopathologie, Centre François Baclesse, Caen, France.
Sobol H; Institut Paoli Calmette, Département d'Anticipation et de Suivi des Cancers, Oncogénétique, Faculté de Médecine, Université d'Aix-Marseille, Marseille, France.
Noguès C; Institut Paoli Calmette, Département d'Anticipation et de Suivi des Cancers, Oncogénétique, Faculté de Médecine, Université d'Aix-Marseille, Marseille, France.
Longy M; Biopathologie, Institut Bergonié, Bordeaux, France.
Mortemousque I; Service de Génétique, Hôpital Bretonneau, Tours, France.
Fert-Ferrer S; Service de Génétique, Centre Hospitalier de Chambéry, Chambéry, France.
Mouret-Fourme E; Service de Génétique, Institut Curie, Paris, France.
Pujol P; Service de Génétique Médicale et Oncogénétique, Hôpital Arnaud de Villeneuve, CHU Montpellier, INSERM 896, CRCM Val d'Aurelle, Montpellier, France.
Venat-Bouvet L; Service d'Oncologie Médicale, Hôpital Universitaire Dupuytren, Limoges, France.
Bignon YJ; Université Clermont Auvergne, INSERM, U1240, Centre Jean Perrin, Clermont-Ferrand, France.
Leroux D; Département de Génétique, CHU de Grenoble, Hôpital Couple-Enfant, Grenoble, France.
Coupier I; Service de Génétique Médicale et Oncogénétique, Hôpital Arnaud de Villeneuve, CHU Montpellier, INSERM 896, CRCM Val d'Aurelle, Montpellier, France.
Berthet P; Département de Biopathologie, Centre François Baclesse, Caen, France.
Mari V; Unité d'Oncogénétique, Centre Antoine Lacassagne, Nice, France.
Delnatte C; Unité d'Oncogénétique, Centre René Gauducheau, Nantes, France.
Gesta P; Service d'Oncogénétique Régional Poitou-Charentes, Niort, France.
Collonge-Rame MA; Service Génétique et Biologie du Développement-Histologie, CHU Hôpital Saint-Jacques, Besançon, France.
Giraud S; Hospices Civils de Lyon, Groupement Hospitalier EST, Bron, France.
Bonadona V; Université Claude Bernard Lyon 1, Villeurbanne, France.; CNRS UMR 5558; Unité de Prévention et Epidémiologie Génétique, Centre Léon Bérard, Lyon, France.
Baurand A; Institut GIMI, CHU de Dijon et Centre de Lutte contre le Cancer Georges François Leclerc, Dijon, France.
Faivre L; Institut GIMI, CHU de Dijon et Centre de Lutte contre le Cancer Georges François Leclerc, Dijon, France.
Buecher B; Service de Génétique, Institut Curie, Paris, France.
Lasset C; Université Claude Bernard Lyon 1, Villeurbanne, France.; CNRS UMR 5558; Unité de Prévention et Epidémiologie Génétique, Centre Léon Bérard, Lyon, France.
Gauthier-Villars M; Service de Génétique, Institut Curie, Paris, France.
Damiola F; Biopathologie, Centre Léon Bérard, Lyon, France.
Mazoyer S; INSERM, U1028, CNRS, UMR5292, Centre de Recherche en Neurosciences de Lyon, Lyon, France.
Caputo SM; Service de Génétique, Institut Curie, Paris, France.
Andrieu N; INSERM, U900, Institut Curie, PSL Research University, Mines ParisTech, Paris, France.
Stoppa-Lyonnet D; Service de Génétique, Institut Curie, Paris, France.; INSERM, U830, Université Paris Descartes, Paris, France.
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Corporate Authors :
GEMO Study Collaborators
Źródło :
Frontiers in oncology [Front Oncol] 2018 Oct 31; Vol. 8, pp. 490. Date of Electronic Publication: 2018 Oct 31 (Print Publication: 2018).
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Autorzy :
Leman R; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.; Normandie Univ, UNICAEN, 14000 Caen, France.
Gaildrat P; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Le Gac G; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Ka C; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Fichou Y; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Audrezet MP; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Caux-Moncoutier V; Inserm U830, Institut Curie Centre de Recherches, 75005 Paris, France.; Université Paris Descartes, Sorbonne Paris Cité, 75005 Paris, France.; Service de Génétique, Institut Curie, 75005 Paris, France.
Caputo SM; Service de Génétique, Institut Curie, 75005 Paris, France.
Boutry-Kryza N; Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon, 69000 Lyon, France.
Léone M; Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon, 69000 Lyon, France.
Mazoyer S; Lyon Neuroscience Research Center-CRNL, Inserm U1028, CNRS UMR 5292, University of Lyon, 69008 Lyon, France.
Bonnet-Dorion F; Inserm U916, Département de Pathologie, Laboratoire de Génétique Constitutionnelle, Institut Bergonié, 33000 Bordeaux, France.
Sevenet N; Inserm U916, Département de Pathologie, Laboratoire de Génétique Constitutionnelle, Institut Bergonié, 33000 Bordeaux, France.
Guillaud-Bataille M; Gustave Roussy, Université Paris-Saclay, Département de Biopathologie, 94805 Villejuif, France.
Rouleau E; Gustave Roussy, Université Paris-Saclay, Département de Biopathologie, 94805 Villejuif, France.
Bressac-de Paillerets B; Gustave Roussy, Université Paris-Saclay, Département de Biopathologie, 94805 Villejuif, France.
Wappenschmidt B; Division of Molecular Gynaeco-Oncology, Department of Gynaecology and Obstetrics, University Hospital of Cologne, 50937 Cologne, Germany.
Rossing M; Centre for Genomic Medicine, Rigshospitalet, University of Copenhagen, 1017 Copenhagen, Denmark.
Muller D; Laboratoire d'Oncogénétique, Centre Paul Strauss, 67000 Strasbourg, France.
Bourdon V; Laboratoire d'Oncogénétique Moléculaire, Institut Paoli-Calmettes, 13009 Marseille, France.
Revillon F; Laboratoire d'Oncogénétique Moléculaire Humaine, Centre Oscar Lambret, 59000 Lille, France.
Parsons MT; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, 4006 Herston, Queensland, Australia.
Rousselin A; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Davy G; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Castelain G; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Castéra L; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Sokolowska J; Service de Génétique, CHU Nancy, 54035 Nancy, France.
Coulet F; Service de génétique, Hôpital Pitié Salpétrière, AP-HP, 75013 Paris, France.
Delnatte C; Laboratoire de génétique moléculaire, CHU Nantes, 44000 Nantes, France.
Férec C; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Spurdle AB; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, 4006 Herston, Queensland, Australia.
Martins A; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Krieger S; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.; Normandie Univ, UNICAEN, 14000 Caen, France.
Houdayer C; Inserm U830, Institut Curie Centre de Recherches, 75005 Paris, France.; Université Paris Descartes, Sorbonne Paris Cité, 75005 Paris, France.; Service de Génétique, Institut Curie, 75005 Paris, France.
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Źródło :
Nucleic acids research [Nucleic Acids Res] 2018 Sep 06; Vol. 46 (15), pp. 7913-7923.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Computer Simulation*
Genetic Variation*
RNA Splicing*
Computational Biology/*methods
RNA Splice Sites/*genetics
BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Breast Neoplasms/diagnosis ; Breast Neoplasms/genetics ; Female ; Humans ; International Cooperation ; Internet ; Ovarian Neoplasms/diagnosis ; Ovarian Neoplasms/genetics ; Reproducibility of Results ; Sensitivity and Specificity
Czasopismo naukowe
Tytuł :
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Autorzy :
Rebbeck TR; Harvard TH Chan School of Public Health and Dana Farber Cancer Institute, Boston, USA.
Friebel TM; Harvard TH Chan School of Public Health and Dana Farber Cancer Institute, Boston, USA.
Friedman E; The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, Ramat Gan 52621, and the Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Hamann U; Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Huo D; Center for Clinical Cancer Genetics and Global Health, University of Chicago, Chicago, USA.
Kwong A; The Hong Kong Hereditary Breast Cancer Family Registry, Cancer Genetics Center, Hong Kong Sanatorium and Hospital, Hong Kong, China.
Olah E; Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.
Olopade OI; Center for Clinical Cancer Genetics and Global Health, University of Chicago, Chicago, USA.
Solano AR; INBIOMED, Faculty of Medicine, University of Buenos Aires/CONICET and CEMIC, Department of Clinical Chemistry, Medical Direction, Buenos Aires, Argentina.
Teo SH; Cancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia.
Thomassen M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Weitzel JN; Division of Clinical Cancer Genomics, City of Hope Cancer Center, California, USA.
Chan TL; Division of Molecular Pathology, Department of Pathology, Hong Kong Sanatorium & Hospital, Happy Valley, Hong Kong.
Couch FJ; Department of Laboratory Medicine and Pathology, and Health Sciences Research, Rochester, USA.
Goldgar DE; Department of Dermatology, University of Utah School of Medicine, Salt Lake City, USA.
Kruse TA; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Palmero EI; Molecular Oncology Research Center, Barretos Cancer Hospital, São Paulo, Brazil.
Park SK; Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea.; Department of Biomedical Science, Seoul National University Graduate School, Seoul, Korea.; Cancer Research Center, Seoul National University, Seoul, Korea.
Torres D; Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Institute of Human Genetics, Pontificia Universidad Javeriana, Colombia.
van Rensburg EJ; Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, South Africa.
McGuffog L; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Parsons MT; Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Leslie G; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Aalfs CM; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Abugattas J; City of Hope Clinical Cancer Genomics Community Research Network, Duarte, USA.
Adlard J; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.
Agata S; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy.
Aittomäki K; Department of Clinical Genetics, Helsinki University Hospital, Helsinki, Finland.
Andrews L; Hereditary Cancer Clinic, Prince of Wales Hospital, Randwick, Australia.
Andrulis IL; Lunenfeld-Tanenbaum Research Institute, Toronto, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Canada.
Arason A; Laboratory of Cell Biology, Department of Pathology, hus 9, Landspitali-LSH v/Hringbraut, 101 Reykjavik, Iceland and BMC (Biomedical Centre), Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
Arnold N; Department of Gynaecology & Oncology, Medical University of Vienna, Austria.
Arun BK; Department of Breast Medical Oncology and Clinical Cancer Genetics Program, University Of Texas MD Anderson Cancer Center, Houston, USA.
Asseryanis E; Dept of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Auerbach L; Dept of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Azzollini J; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Instituto Nazionale Tumori (INT), Milan, Italy.
Balmaña J; Department of Medical Oncology, Vall d'Hebron University Hospital, Barcelona, Spain.
Barile M; Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Milan, Italy.
Barkardottir RB; Laboratory of Cell Biology, Department of Pathology, hus 9, Landspitali-LSH v/Hringbraut, 101 Reykjavik, Iceland and BMC (Biomedical Centre), Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
Barrowdale D; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Benitez J; Human Genetics Group and Genotyping Unit (CEGEN), Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.; Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain.
Berger A; Dept of OB/GYN, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Berger R; The Institute of Oncology, Chaim Sheba Medical Center, Ramat Gan, Israel.
Blanco AM; UCSF Cancer Genetics and Prevention Program, San Francisco, USA.
Blazer KR; Division of Clinical Cancer Genomics, City of Hope Cancer Center, California, USA.
Blok MJ; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Bonadona V; Unité de Prévention et d'Epidémiologie Génétique, Centre Léon Bérard, 28 rue Laënnec, Lyon, France.
Bonanni B; Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Milan, Italy.
Bradbury AR; Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.
Brewer C; Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, UK.
Buecher B; Service de Génétique, Institut Curie, 26 rue d'Ulm, Paris, France.
Buys SS; Department of Medicine, Huntsman Cancer Institute, Salt Lake City, USA.
Caldes T; Molecular Oncology Laboratory, Hospital Clinico San Carlos, Instituto de Investigación Sanitaria San Carlos (IdISSC), Centro Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
Caliebe A; Institute of Human Genetics, University Hospital of Schleswig-Holstein, Kiel, Germany.
Caligo MA; Section of Molecular Genetics, Dept. of Laboratory Medicine, University Hospital of Pisa, Pisa, Italy.
Campbell I; Research Division, Peter MacCallum Cancer Centre, Melbourne, Australia.
Caputo SM; Service de Génétique, Institut Curie, 26 rue d'Ulm, Paris, France.
Chiquette J; CRCHU de Quebec-oncologie, Centre des maladies du sein Deschênes-Fabia, Hôpital du Saint-Sacrement, Sainte-Foy, Canada.
Chung WK; Departments of Pediatrics and Medicine, Columbia University, New York, USA.
Claes KBM; Center for Medical Genetics, Ghent University, Gent, Belgium.
Collée JM; Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands.
Cook J; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.
Davidson R; Department of Clinical Genetics, South Glasgow University Hospitals, Glasgow, UK.
de la Hoya M; Molecular Oncology Laboratory, Hospital Clinico San Carlos, Instituto de Investigación Sanitaria San Carlos (IdISSC), Centro Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
De Leeneer K; Center for Medical Genetics, Ghent University, Gent, Belgium.
de Pauw A; Service de Génétique, Institut Curie, 26 rue d'Ulm, Paris, France.
Delnatte C; Unité d'oncogénétique, ICO-Centre René Gauducheau, Saint Herblain, France.
Diez O; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Clinical and Molecular Genetics Area, Vall d'Hebron University Hospital, Barcelona, Spain.
Ding YC; Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, USA.
Ditsch N; Department of Gynaecology and Obstetrics, Ludwig-Maximilian University, Munich, Germany.
Domchek SM; Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.
Dorfling CM; Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, South Africa.
Velazquez C; Cáncer Hereditario, Instituto de Biología y Genética Molecular, IBGM, Universidad de Valladolid, Valladolid, Spain.
Dworniczak B; Institute of Human Genetics, University of Münster, Münster, Germany.
Eason J; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.
Easton DF; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Eeles R; Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, London, UK.
Ehrencrona H; Department of Clinical Genetics, Lund University Hospital, Lund, Sweden.
Ejlertsen B; Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Engel C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
Engert S; Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University, Munich, Germany.
Evans DG; Genomic Medicine, Manchester Academic Health Sciences Centre, Division of Evolution and Genomic Sciences, University of Manchester, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Faivre L; Centre de Lutte Contre le Cancer Georges François Leclerc, France and Genomic and Immunotherapy Medical Institute, Dijon University Hospital, Dijon, France.
Feliubadaló L; Molecular Diagnostic Unit, Hereditary Cancer Program, ICO-IDIBELL (Catalan Institute of Oncology-Bellvitge Biomedical Research Institute), Barcelona, Spain.
Ferrer SF; Laboratoire de Génétique Chromosomique, Hôtel Dieu Centre Hospitalier, Chambéry, France.
Foretova L; Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.
Fowler J; Columbus Cancer Council, Ohio State University, Columbus, USA.
Frost D; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Galvão HCR; Oncogenetics Department, Barretos Cancer Hospital, Barretos, Brazil.
Ganz PA; UCLA Schools of Medicine and Public Health, Division of Cancer Prevention & Control Research, Jonsson Comprehensive Cancer Center, Los Angeles, USA.
Garber J; Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, USA.
Gauthier-Villars M; Service de Génétique, Institut Curie, 26 rue d'Ulm, Paris, France.
Gehrig A; Centre of Familial Breast and Ovarian Cancer, Department of Medical Genetics, Institute of Human Genetics, University of Würzburg, Germany, Würzburg.
Gerdes AM; Department of Clinical Genetics, Copenhagen, Denmark.
Gesta P; Service Régional Oncogénétique Poitou-Charentes, Centre Hospitalier, Niort, France.
Giannini G; Department of Molecular Medicine, University La Sapienza, and Istituto Pasteur - Fondazione Cenci-Bolognetti, Rome, Italy.
Giraud S; Bâtiment Cheney D, Centre Léon Bérard, Lyon, France.
Glendon G; Ontario Cancer Genetics Network: Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, Canada.
Godwin AK; Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, USA.
Greene MH; Clinical Genetics Branch, DCEG, NCI, NIH, Bethesda, USA.
Gronwald J; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Gutierrez-Barrera A; Department of Breast Medical Oncology and Clinical Cancer Genetics Program, University Of Texas MD Anderson Cancer Center, Houston, USA.
Hahnen E; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Hauke J; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Henderson A; Institute of Genetic Medicine, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, UK.
Hentschel J; Institute of Human Genetics, University Leipzig, Leipzig, Germany.
Hogervorst FBL; Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands.
Honisch E; Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany.
Imyanitov EN; N.N. Petrov Institute of Oncology, St. Petersburg, Russia.
Isaacs C; Lombardi Comprehensive Cancer Center, Georgetown University, Washington, USA.
Izatt L; Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.
Izquierdo A; Genetic Counseling Unit, Hereditary Cancer Program, IDIBGI (Institut d'Investigació Biomèdica de Girona), Catalan Institute of Oncology, Girona, Spain.
Jakubowska A; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
James P; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Australia.
Janavicius R; Hematology, oncology and transfusion medicine center, Dept. of Molecular and Regenerative Medicine, Vilnius University Hospital Santariskiu Clinics, Vilnius, Lithuania.
Jensen UB; Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark.
John EM; Department of Epidemiology, Cancer Prevention Institute of California, Fremont, USA.; Department of Health Research and Policy (Epidemiology) and Stanford Cancer Institute, Stanford University School of Medicine, Stanford, USA.
Vijai J; Clinical Genetics Research Laboratory, Dept. of Medicine, Memorial Sloan-Kettering Cancer Center, New York, USA.
Kaczmarek K; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Karlan BY; Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, USA.
Kast K; Department of Gynecology and Obstetrics, Medical Faculty and University Hospital Carl Gustav Carus, Dresden, Germany.
Investigators K; Research Department, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia and The Sir Peter MacCallum Department of Oncology University of Melbourne, Parkville, Australia.
Kim SW; Department of Surgery, Daerim St. Mary's Hospital, Seoul, Korea.
Konstantopoulou I; Molecular Diagnostics Laboratory, INRASTES (Institute of Nuclear and Radiological Sciences and Technology), National Centre for Scientific Research 'Demokritos', Athens, Greece.
Korach J; The Gyneco-Oncology Department, Chaim Sheba Medical Center, Ramat Gan, Israel.
Laitman Y; The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, Ramat Gan 52621, and the Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Lasa A; Servicio de Genética-CIBERER U705, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Lasset C; Unité de Prévention et d'Epidémiologie Génétique, Centre Léon Bérard, 28 rue Laënnec, Lyon, France.
Lázaro C; Molecular Diagnostic Unit, Hereditary Cancer Program, ICO-IDIBELL (Catalan Institute of Oncology-Bellvitge Biomedical Research Institute), Barcelona, Spain.
Lee A; The Feinstein Institute for Medical Research, Manhasset, USA.
Lee MH; Department of Surgery, Soonchunhyang University and Seoul Hospital, Seoul, Korea.
Lester J; Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, USA.
Lesueur F; Inserm U900, Institut Curie, PSL Research University, Paris, France.
Liljegren A; Department of Oncology Radiumhemmet and Institution of Oncology and Patology, Karolinska University Hospital and Karolinska Institutet, Solna, Sweden.
Lindor NM; Department of Health Sciences Research, Mayo Clinic, Scottsdale, USA.
Longy M; Oncogénétique, Institut Bergonié, Bordeaux, France.
Loud JT; Clinical Genetics Branch, DCEG, NCI, NIH, Bethesda, USA.
Lu KH; Department of Gynecological Oncology and Clinical Cancer Genetics Program, University Of Texas MD Anderson Cancer Center, Houston, USA.
Lubinski J; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Machackova E; Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.
Manoukian S; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Instituto Nazionale Tumori (INT), Milan, Italy.
Mari V; Centre Antoine Lacassagne, Nice, France.
Martínez-Bouzas C; Laboratorio de Genética Molecular, Servicio de Genética, Hospital Universitario Cruces, BioCruces Health Research Institute, Barakaldo, Spain.
Matrai Z; Department of Surgery, National Institute of Oncology, Budapest, Hungary.
Mebirouk N; Inserm U900, Institut Curie, PSL Research University, Paris, France.
Meijers-Heijboer HEJ; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Meindl A; Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University, Munich, Germany.
Mensenkamp AR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Mickys U; Vilnius university Santariskiu hospital, National Center of Pathology, Vilnius, Lithuania.
Miller A; NRG Oncology, Statistics and Data Management Center, Roswell Park Cancer Institute, Buffalo, USA.
Montagna M; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy.
Moysich KB; Department of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, USA.
Mulligan AM; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada.
Musinsky J; Clinical Genetics Research Laboratory, Dept. of Medicine, Memorial Sloan-Kettering Cancer Center, New York, USA.
Neuhausen SL; Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, USA.
Nevanlinna H; Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, HUS, Finland.
Ngeow J; Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Bukit Merah, Singapore.
Nguyen HP; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Niederacher D; Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany.
Nielsen HR; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Nielsen FC; Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Nussbaum RL; Cancer Genetics and Prevention Program, University of California San Francisco, San Francisco, USA.
Offit K; Clinical Genetics Research Laboratory, Dept. of Medicine, Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, USA.
Öfverholm A; Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden.
Ong KR; West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, UK.
Osorio A; Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain.
Papi L; Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy.
Papp J; Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.
Pasini B; Department of Medical Sciences, University of Turin, Turin, Italy.
Pedersen IS; Section of Molecular Diagnostics, Department of Biochemistry, Aalborg University Hospital, Aalborg, Denmark.
Peixoto A; Department of Genetics, Portuguese Oncology Institute of Porto (IPO Porto), Porto, Portugal.; Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal.
Peruga N; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Peterlongo P; IFOM, The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy.
Pohl E; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Pradhan N; Clinical Genetics Research Laboratory, Dept. of Medicine, Memorial Sloan-Kettering Cancer Center, New York, USA.
Prajzendanc K; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Prieur F; Service de Génétique Clinique Chromosomique et Moléculaire, Hôpital Nord, St Etienne, France.
Pujol P; Unité d'Oncogénétique, CHU Arnaud de Villeneuve, Montpellier, France.
Radice P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico), Istituto Nazionale Tumori (INT), Milan, Italy.
Ramus SJ; School of Women's and Children's Health, UNSW, Sydney, Australia.; The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, Australia.
Rantala J; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Rashid MU; Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Department of Basic Sciences, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan.
Rhiem K; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Robson M; Clinical Genetics Services, Dept. of Medicine, Memorial Sloan-Kettering Cancer Center, New York, USA.
Rodriguez GC; Division of Gynecologic Oncology, North Shore University Health System, University of Chicago, Evanston, USA.
Rogers MT; All Wales Medical Genetics Services, University Hospital of Wales, Cardiff, UK.
Rudaitis V; Department of Gynecology, Vilnius University Hospital Santariskiu Clinics, Centre of Woman's Health and pathology, Vilnius, Lithuania.
Schmidt AY; Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Schmutzler RK; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Senter L; Clinical Cancer Genetics Program, Division of Human Genetics, Department of Internal Medicine, The Comprehensive Cancer Center, The Ohio State University, Columbus, USA.
Shah PD; Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.
Sharma P; Department of Internal Medicine, Division of Oncology, University of Kansas Medical Center, Westwood, USA.
Side LE; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK.
Simard J; Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec City, Canada.
Singer CF; Dept of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Skytte AB; Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark.
Slavin TP; Division of Clinical Cancer Genomics, City of Hope Cancer Center, California, USA.
Snape K; Medical Genetics Unit, University of London, St George's, UK.
Sobol H; Département Oncologie Génétique, Prévention et Dépistage, Institut Paoli-Calmettes, Marseille Medical School-AM University, Marseille, France.
Southey M; Département Oncologie Génétique, Prévention et Dépistage, Institut Paoli-Calmettes, Marseille Medical School-AM University, Marseille, France.; Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, Australia.
Steele L; Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, USA.
Steinemann D; Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany.
Sukiennicki G; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Sutter C; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
Szabo CI; National Human Genome Research Institute, National Institutes of Health, Bethesda, USA.
Tan YY; Dept of OB/GYN, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Teixeira MR; Department of Genetics, Portuguese Oncology Institute of Porto (IPO Porto), Porto, Portugal.; Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal.
Terry MB; Department of Epidemiology, Columbia University, New York, USA.
Teulé A; Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, CIBERONC, Gran Via de l'Hospitalet, Barcelona, Spain.
Thomas A; Department of Health Sciences Research, Mayo Clinic, Rochester, USA.
Thull DL; Department of Medicine, Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, USA.
Tischkowitz M; Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, Canada.
Tognazzo S; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy.
Toland AE; Division of Human Genetics, Departments of Internal Medicine and Cancer Biology and Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, USA.
Topka S; Clinical Genetics Research Laboratory, Dept. of Medicine, Memorial Sloan-Kettering Cancer Center, New York, USA.
Trainer AH; Parkville Familial Cancer Centre, Royal Melbourne Hospital, Melbourne, Australia.
Tung N; Department of Medical Oncology, Beth Israel Deaconess Medical Center, Massachusetts, USA.
van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
van der Hout AH; Department of Genetics, University Medical Center, Groningen University, Groningen, The Netherlands.
van der Kolk LE; Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands.
van der Luijt RB; Department of Medical Genetics, University Medical Center, Utrecht, The Netherlands.
Van Heetvelde M; Center for Medical Genetics, Ghent University, Gent, Belgium.
Varesco L; Unit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) AOU San Martino - IST Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy.
Varon-Mateeva R; Institute of Human Genetics, Campus Virchov Klinikum, Berlin, Germany.
Vega A; Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.
Villarreal-Garza C; Departamento de Investigacion y de Tumores Mamarios del, Instituto Nacional de Cancerologia, Mexico City, Mexico.; Centro de Cancer de Mama del Hospital Zambrano Hellion, Tecnologico de Monterrey, San Pedro Garza Garcia, Mexico.
von Wachenfeldt A; Department of Oncology, Karolinska University Hospital, Stockholm, Sweden.
Walker L; Oxford Regional Genetics Service, Churchill Hospital, Oxford, UK.
Wang-Gohrke S; Department of Gynaecology and Obstetrics, University Hospital, Ulm, Germany.
Wappenschmidt B; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Weber BHF; Institute of Human Genetics, Regensburg University, Regensburg, Germany.
Yannoukakos D; Molecular Diagnostics Laboratory, INRASTES (Institute of Nuclear and Radiological Sciences and Technology), National Centre for Scientific Research 'Demokritos', Athens, Greece.
Yoon SY; Cancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia.
Zanzottera C; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Instituto Nazionale Tumori (INT), Milan, Italy.
Zidan J; Institute of Oncology, Rivka Ziv Medical Center, Zefat, Israel.
Zorn KK; Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, USA.
Hutten Selkirk CG; Center for Medical Genetics, North Shore University Health System, Evanston, USA.
Hulick PJ; Medical Director, Center for Medical Genetics, NorthShore University HealthSystem, Clinical Assistant Professor of Medicine, University of Chicago Pritzker School of Medicine, Evanston, USA.
Chenevix-Trench G; Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Spurdle AB; Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Antoniou AC; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Nathanson KL; Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.
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Corporate Authors :
EMBRACE; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
GEMO Study Collaborators; Department of Tumour Biology, Institut Curie, Paris, France.; Institut Curie, Paris, France.
HEBON; The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Netherlands Cancer Institute, Amsterdam, The Netherlands.
Źródło :
Human mutation [Hum Mutat] 2018 May; Vol. 39 (5), pp. 593-620. Date of Electronic Publication: 2018 Mar 12.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Internationality*
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Mutation/*genetics
Databases, Genetic ; Family ; Geography ; Humans
Czasopismo naukowe
Tytuł :
Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.
Autorzy :
Caputo SM; Institut Curie, Service de Génétique, Paris, France.
Léone M; Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon/Centre Léon Bérard, Lyon, France.
Damiola F; Centre Léon Bérard, Lyon, France.
Ehlen A; Institut Curie, PSL Research University, CNRS UMR3348, Orsay, France.; Université Paris Sud, Université Paris-Saclay, CNRS UMR3348, Orsay, France.
Carreira A; Institut Curie, PSL Research University, CNRS UMR3348, Orsay, France.; Université Paris Sud, Université Paris-Saclay, CNRS UMR3348, Orsay, France.
Gaidrat P; Inserm-U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Martins A; Inserm-U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Brandão RD; Maastricht University, Maastricht, Netherlands.
Peixoto A; Department of Genetics, Portuguese Oncology Institute, Porto, Portugal.
Vega A; Department of Genetics, Portuguese Oncology Institute, Porto, Portugal.
Houdayer C; Institut Curie, Service de Génétique, Paris, France.; Université Paris Descartes, Paris, France.
Delnatte C; Service de Génétique médicale, CHU Nantes, Nantes, France.
Bronner M; Service de Génétique, CHU Nancy Brabois, Nancy, France.
Muller D; Laboratoire d'Oncogénétique, Centre Paul Strauss, Strasbourg, France.
Castera L; Laboratoire de biologie et de génétique du cancer, CLCC François Baclesse, INSERM 1079 Centre Normand de Génomique et de Médecine Personnalisée, Caen, France.
Guillaud-Bataille M; Institut Gustave Roussy, Villejuif, France.
Søkilde I; Section of Molecular Diagnostics, Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark.
Uhrhammer N; Laboratoire de Biologie Médicale, CLCC Jean Perrin, Clermont-Ferrand, France.
Demontety S; Institut Curie, Service de Génétique, Paris, France.
Tubeuf H; Inserm-U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Interactive Biosoftware, Rouen, France.
Castelain G; Inserm-U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Jensen UB; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Petitalot A; Institut Curie, Service de Génétique, Paris, France.
Krieger S; Laboratoire de biologie et de génétique du cancer, CLCC François Baclesse, INSERM 1079 Centre Normand de Génomique et de Médecine Personnalisée, Caen, France.
Lefol C; Institut Curie, Service de Génétique, Paris, France.
Moncoutier V; Institut Curie, Service de Génétique, Paris, France.
Boutry-Kryza N; Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon/Centre Léon Bérard, Lyon, France.
Nielsen HR; Department of Clinical Genetics, Vejle Hospital, Odense, Denmark.
Sinilnikova O; Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon/Centre Léon Bérard, Lyon, France.
Stoppa-Lyonnet D; Institut Curie, Service de Génétique, Paris, France.; Université Paris Descartes, Paris, France.
Spurdle AB; Genetics and Comp utational Biology Division, QIMR Berghofer Medical Research Institute, Herston, Brisbane, Australia.
Teixeira MR; Department of Genetics, Portuguese Oncology Institute, Porto, Portugal.; Institute of Biomedical Sciences, University of Porto, Porto, Portugal.
Coulet F; Laboratoire d'Oncogénétique et d'Angiogénétique Moléculaire, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Thomassen M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Rouleau E; Institut Curie, Service de Génétique, Paris, France.
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Corporate Authors :
French COVAR group collaborators
Źródło :
Oncotarget [Oncotarget] 2018 Apr 03; Vol. 9 (25), pp. 17334-17348. Date of Electronic Publication: 2018 Apr 03 (Print Publication: 2018).
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition.
Autorzy :
Dos Santos ES; Department of Oncology, Center for Translational Oncology, Cancer Institute of the State of São Paulo - ICESP, São Paulo, Brazil.; Service de Génétique, Institut Curie, Paris, France.; A.C.Camargo Cancer Center, São Paulo, Brazil.
Caputo SM; Service de Génétique, Institut Curie, Paris, France.
Castera L; Laboratoire de Biologie et de Génétique du Cancer, CLCC François Baclesse, INSERM 1079 Centre Normand de Génomique et de MédecinePersonnalisée, Caen, France.
Gendrot M; Service de Génétique, Institut Curie, Paris, France.
Briaux A; Service de Génétique, Institut Curie, Paris, France.
Breault M; Service de Génétique, Institut Curie, Paris, France.
Krieger S; Laboratoire de Biologie et de Génétique du Cancer, CLCC François Baclesse, INSERM 1079 Centre Normand de Génomique et de MédecinePersonnalisée, Caen, France.
Rogan PK; Department of Biochemistry, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Canada.
Mucaki EJ; Department of Biochemistry, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Canada.
Burke LJ; School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, Australia.
Bièche I; Service de Génétique, Institut Curie, Paris, France.; Université Paris Descartes, Paris, France.
Houdayer C; Service de Génétique, Institut Curie, Paris, France.; Université Paris Descartes, Paris, France.
Vaur D; Laboratoire de Biologie et de Génétique du Cancer, CLCC François Baclesse, INSERM 1079 Centre Normand de Génomique et de MédecinePersonnalisée, Caen, France.
Stoppa-Lyonnet D; Service de Génétique, Institut Curie, Paris, France.; Université Paris Descartes, Paris, France.
Brown MA; School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, Australia.
Lallemand F; Service de Génétique, Institut Curie, Paris, France. .
Rouleau E; Gustave Roussy, Villejuif, France. .
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Corporate Authors :
ENIGMA consortium
Źródło :
Breast cancer research and treatment [Breast Cancer Res Treat] 2018 Apr; Vol. 168 (2), pp. 311-325. Date of Electronic Publication: 2017 Dec 13.
Typ publikacji :
Journal Article
MeSH Terms :
Genes, BRCA1*
Genes, BRCA2*
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Adult ; Aged ; Cohort Studies ; Computational Biology ; Female ; Genetic Predisposition to Disease ; Germ-Line Mutation ; High-Throughput Nucleotide Sequencing ; Humans ; Introns/genetics ; Middle Aged ; Pedigree ; Polymorphism, Single Nucleotide ; Promoter Regions, Genetic/genetics ; Untranslated Regions/genetics
Czasopismo naukowe
Tytuł :
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
Autorzy :
Moghadasi S; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Meeks HD; Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA.
Vreeswijk MP; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Janssen LA; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Borg Å; Division of Oncology, Department of Clinical Sciences, Lund University, Lund, Sweden.
Ehrencrona H; Department of Clinical Genetics, Lund University, Lund, Sweden.; Department of Clinical Genetics, Laboratory Medicine, Office for Medical Services, Lund University, Lund, Sweden.
Paulsson-Karlsson Y; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
Wappenschmidt B; Centre of Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany.; Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany.; Centre for Molecular Medicine Cologne (CMMC), University Hospital of Cologne, Cologne, Germany.
Engel C; Institute for Medical Informatics, University of Leipzig, Leipzig, Germany.; Department of Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
Gehrig A; Centre of Familial Breast and Ovarian Cancer, University Würzburg, Würzburg, Germany.; Department of Medical Genetics, University Würzburg, Würzburg, Germany.; Institute of Human Genetics, University Würzburg, Würzburg, Germany.
Arnold N; Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany.
Hansen TVO; Center for Genomic Medicine, University of Copenhagen, Copenhagen, DenmarK.; Department of Rigshospitalet, University of Copenhagen, Copenhagen, DenmarK.
Thomassen M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Jensen UB; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Kruse TA; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Ejlertsen B; Department of Rigshospitalet, University of Copenhagen, Copenhagen, DenmarK.; Department of Oncology, University of Copenhagen, Copenhagen, Denmark.
Gerdes AM; Department of Rigshospitalet, University of Copenhagen, Copenhagen, DenmarK.; Department of Clinical Genetics, University of Copenhagen, Copenhagen, Denmark.
Pedersen IS; Section of Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark.; Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark.
Caputo SM; Institut Curie, Service de génétique, Paris, France.
Couch F; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Hallberg EJ; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
van den Ouweland AM; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
Collée MJ; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
Teugels E; Familial Cancer Clinic and Medical Oncology, University Hospital Brussels, Belgium.
Adank MA; Department of Clinical Genetics, VU Medical Centre, Amsterdam, The Netherlands.
van der Luijt RB; Division of Biomedical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
Mensenkamp AR; Department of Human Genetics, Radboudumc Nijmegen, The Netherlands.
Oosterwijk JC; Department of Genetics, University of Groningen, University Medical Centre, Groningen, The Netherlands.
Blok MJ; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Janin N; Department of Service de Génétique, Cliniques universitaires Saint-Luc, Bruxelles, Belgium.
Claes KB; Centre for Medical Genetics, Ghent University Hospital, Belgium.
Tucker K; Hereditary Cancer Service, Prince of Wales (and St George Hospitals) Hospital, Randwick, New South Wales, Australia.
Viassolo V; Department of Oncogenetics and Cancer Prevention Unit, Geneva University Hospitals, Geneva, Switzerland.; Division of Oncology, Geneva University Hospitals, Geneva, Switzerland.
Toland AE; Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio, USA.
Eccles DE; Faculty of Medicine, University of Southampton, Southampton, UK.
Devilee P; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Spurdle AB; Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Herston, Brisbane, Australia.
Goldgar DE; Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine Salt Lake City, Salt Lake City, Utah, USA.
García EG; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Pokaż więcej
Źródło :
Journal of medical genetics [J Med Genet] 2018 Jan; Vol. 55 (1), pp. 15-20. Date of Electronic Publication: 2017 May 10.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Predisposition to Disease*
BRCA1 Protein/*genetics
Breast Neoplasms/*genetics
Mutation/*genetics
Ovarian Neoplasms/*genetics
Chromosome Segregation ; Female ; Humans ; Risk Factors
Czasopismo naukowe
Tytuł :
Involvement of the FOXO6 transcriptional factor in breast carcinogenesis.
Autorzy :
Lallemand F; Service de génétique, unité de pharmacogénomique, Institut Curie, Paris, France.
Petitalot A; Service de génétique, unité de pharmacogénomique, Institut Curie, Paris, France.; Service de génétique, unité de génétique constitutionnelle, Institut Curie, Paris, France.
Vacher S; Service de génétique, unité de pharmacogénomique, Institut Curie, Paris, France.
de Koning L; Département de transfert, Institut Curie, Paris, France.
Taouis K; Service de génétique, unité de pharmacogénomique, Institut Curie, Paris, France.
Lopez BS; CNRS UMR 8200, Gustave Roussy Cancer Institute, Université Paris-Saclay, équipe labélisée par la Ligue contre le cancer, Villejuif, France.
Zinn-Justin S; Laboratoire de biologie structurale et radiobiologie, IBITEC-S (CEA) and I2BC (UMR 9198, CEA, CNRS, Univ. Paris South), Gif-sur-Yvette, France.
Dalla-Venezia N; Centre de Recherche en Cancérologie de Lyon (CRCL)/INSERM U1052-CNRS UMR5286, Lyon, France.
Chemlali W; Service de génétique, unité de pharmacogénomique, Institut Curie, Paris, France.
Schnitzler A; Service de génétique, unité de pharmacogénomique, Institut Curie, Paris, France.
Lidereau R; Service de génétique, unité de pharmacogénomique, Institut Curie, Paris, France.
Bieche I; Service de génétique, unité de pharmacogénomique, Institut Curie, Paris, France.; EA7331, Université Paris Descartes, Paris, France.
Caputo SM; Service de génétique, unité de génétique constitutionnelle, Institut Curie, Paris, France.
Pokaż więcej
Źródło :
Oncotarget [Oncotarget] 2017 Dec 30; Vol. 9 (7), pp. 7464-7475. Date of Electronic Publication: 2017 Dec 30 (Print Publication: 2018).
Typ publikacji :
Journal Article
Czasopismo naukowe

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