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Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
de la Hoya, Miguel; Soukarieh, Omar; López-Perolio, Irene; Vega, Ana; Walker, Logan C; van Ierland, Yvette; Baralle, Diana; Santamariña, Marta; Lattimore, Vanessa; Wijnen, Juul; Whiley, Philip; Blanco, Ana; Raponi, Michela; Hauke, Jan; Wappenschmidt, Barbara; Becker, Alexandra; Hansen, Thomas V O; Behar, Raquel; Investigators, KConFaB; Niederacher, Diether; Arnold, Norbert; Dworniczak, Bernd; Steinemann, Doris; Faust, Ulrike; Rubinstein, Wendy; Hulick, Peter J; Houdayer, Claude; Caputo, Sandrine M; Castera, Laurent; Pesaran, Tina; Chao, Elizabeth; Brewer, Carole; Southey, Melissa C; van Asperen, Christi J; Singer, Christian F; Sullivan, Jan; Poplawski, Nicola; Mai, Phuong; Peto, Julian; Johnson, Nichola; Burwinkel, Barbara; Surowy, Harald; Bojesen, Stig E; Flyger, Henrik; Lindblom, Annika; Margolin, Sara; Chang-Claude, Jenny; Rudolph, Anja; Radice, Paolo; Galastri, Laura.
Afiliação
  • de la Hoya M; Molecular Oncology Laboratory, Instituto de Investigacion Sanitaria San Carlos (IdISSC), Hospital Clinico San Carlos, Madrid, Spain amanda.spurdle@qimr.edu.au mhoya@hotmail.com.
  • Soukarieh O; Inserm U1079-IRIB, University of Rouen, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
  • López-Perolio I; Molecular Oncology Laboratory, Instituto de Investigacion Sanitaria San Carlos (IdISSC), Hospital Clinico San Carlos, Madrid, Spain.
  • Vega A; Fundacion Publica Galega de Medicina Xenómica-SERGAS Grupo de Medicina Xenómica-USC, IDIS, CIBERER, Santiago de Compostela 15706, Spain.
  • Walker LC; Department of Pathology, University of Otago, Christchurch 8140, New Zealand.
  • van Ierland Y; Department of Clinical Genetics, Leiden University Medical Centre, Leiden 2300, The Netherlands.
  • Baralle D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton S016 5YA, UK.
  • Santamariña M; CIBERER, Grupo de Medicina Xenómica-USC, Universidade de Santiago de Compostela, Fundacion Galega de Medicina Xenómica (SERGAS), Santiago de Compostela 15706, Spain.
  • Lattimore V; Department of Pathology, University of Otago, Christchurch 8140, New Zealand.
  • Wijnen J; Department of Clinical Genetics, Leiden University Medical Centre, Leiden 2300, The Netherlands Department of Clinical Genetics, Leiden University Medical Centre, Leiden 2300, The Netherlands.
  • Whiley P; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
  • Blanco A; Fundacion Publica Galega de Medicina Xenómica-SERGAS Grupo de Medicina Xenómica-USC, IDIS, CIBERER, Santiago de Compostela 15706, Spain.
  • Raponi M; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton S016 5YA, UK.
  • Hauke J; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hosptial Cologne, Cologne 50931, Germany.
  • Wappenschmidt B; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hosptial Cologne, Cologne 50931, Germany.
  • Becker A; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hosptial Cologne, Cologne 50931, Germany.
  • Hansen TV; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen DK-2100, Denmark.
  • Behar R; Molecular Oncology Laboratory, Instituto de Investigacion Sanitaria San Carlos (IdISSC), Hospital Clinico San Carlos, Madrid, Spain.
  • Investigators K; Peter MacCallum Cancer Center, University of Melbourne, Melbourne, VIC 3002, Australia.
  • Niederacher D; Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf 40225, Germany.
  • Arnold N; Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel 24105, Germany.
  • Dworniczak B; Institute of Human Genetics, University of Münster, Münster 48149, Germany.
  • Steinemann D; Institute of Human Genetics, Hannover Medical School, Hannover 30625, Germany.
  • Faust U; Institute of Medical Genetics and Applied Genomics, University Hospital Tuebingen, Tuebingen 72076, Germany.
  • Rubinstein W; National Institutes of Health, Bethesda, MD 20892-2152, USA.
  • Hulick PJ; Center for Medical Genetics, NorthShore University Health System, University of Chicago Pritzker School of Medicine, Evanston, IL 60201, USA.
  • Houdayer C; Service de Génétique, Department de Biologie des Tumeurs, Institut Curie and INSERM U830, Centre de Recherche de l'Institut Curie, Paris, and Universite Paris Descartes, Sorbonne Paris Cite, Paris 75248, France.
  • Caputo SM; Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris 75248, France.
  • Castera L; Centre Francois Baclesse, Laboratoire de Biologie et de Genetique du Cancer, 14076 Caen, Paris 75248, France.
  • Pesaran T; Ambry Genetics, Aliso Viejo, CA 92656, USA.
  • Chao E; Ambry Genetics, Aliso Viejo, CA 92656, USA.
  • Brewer C; Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK.
  • Southey MC; Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Melbourne, VIC 3010, Australia.
  • van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Centre, Leiden 2300, The Netherlands.
  • Singer CF; Department of Obstetrics and Gynaecology, Medical University of Vienna, Vienna, Austria, Waehringer Guertel 18-20, A 1090 Vienna, Austria.
  • Sullivan J; Genetic Health Service NZ, South Island Hub, Christchurch Hospital, Christchurch 8140, New Zealand.
  • Poplawski N; Adult Genetics Unit, South Australian Clinical Genetics Service, SA Pathology at the Women's and Children's Hospital, North Adelaide, SA 5067, Australia University Department of Paediatrics, University of Adelaide, North Terrace, Adelaide, SA 5000, Australia.
  • Mai P; Clinical Genetics Branch, DCEG, NCI, NIH, Bethesda, MD, USA.
  • Peto J; London School of Hygiene and Tropical Medicine, London WC1E 7HT, UK.
  • Johnson N; Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, London SW3 6JB, UK Division of Breast Cancer Research, Institute of Cancer Research, London SW3 6JB, UK.
  • Burwinkel B; Molecular Biology of Breast Cancer, Department of Gynecology and Obstetrics, University of Heidelberg, Heidelberg 69120, Germany Molecular Epidemiology Group, German Cancer Research Center, DKFZ, Heidelberg 69120, Germany.
  • Surowy H; Molecular Biology of Breast Cancer, Department of Gynecology and Obstetrics, University of Heidelberg, Heidelberg 69120, Germany Molecular Epidemiology Group, German Cancer Research Center, DKFZ, Heidelberg 69120, Germany.
  • Bojesen SE; Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen 2730, Denmark Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev 2730, Denmark Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 1165, Denmark.
  • Flyger H; Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, 2730 Denmark.
  • Lindblom A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm SE-171 77, Sweden.
  • Margolin S; Department of Oncology Pathology, Karolinska Institutet, Stockholm SE-171 77, Sweden.
  • Chang-Claude J; Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg 69120, Germany University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.
  • Rudolph A; Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg 69120, Germany.
  • Radice P; Unit of "Molecular bases of genetic risk and genetic testing", Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano 20139, Italy.
  • Galastri L; Associazione Volontari Italiani Sangue (AVIS) comunale di Milano, Milano 20139, Italy.
Hum Mol Genet ; 25(11): 2256-2268, 2016 06 01.
Article em En | MEDLINE | ID: mdl-27008870
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Ovarianas / Neoplasias da Mama / Proteína BRCA1 / Proteínas Supressoras de Tumor / Mutação Tipo de estudo: Prognostic_studies Limite: Adult / Aged / Female / Humans / Middle aged Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de publicação: Reino Unido
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Ovarianas / Neoplasias da Mama / Proteína BRCA1 / Proteínas Supressoras de Tumor / Mutação Tipo de estudo: Prognostic_studies Limite: Adult / Aged / Female / Humans / Middle aged Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de publicação: Reino Unido