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BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.

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Title: BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.
Authors: 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.
Corporate Authors: ENIGMA Consortium; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia.
Source: Human mutation [Hum Mutat] 2018 Dec; Vol. 39 (12), pp. 2025-2039. Date of Electronic Publication: 2018 Sep 24.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.
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  Data: <searchLink fieldCode="AU" term="%22Burke+LJ%22">Burke LJ</searchLink>; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia.<br /><searchLink fieldCode="AU" term="%22Sevcik+J%22">Sevcik J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Gambino+G%22">Gambino G</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Tudini+E%22">Tudini E</searchLink>; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia.; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.<br /><searchLink fieldCode="AU" term="%22Mucaki+EJ%22">Mucaki EJ</searchLink>; University of Western Ontario, Department of Biochemistry, Schulich School of Medicine and Dentistry, London, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Shirley+BC%22">Shirley BC</searchLink>; CytoGnomix Inc., London, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Whiley+P%22">Whiley P</searchLink>; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia.; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.<br /><searchLink fieldCode="AU" term="%22Parsons+MT%22">Parsons MT</searchLink>; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.<br /><searchLink fieldCode="AU" term="%22De+Leeneer+K%22">De Leeneer K</searchLink>; Center for Medical Genetics, Ghent University Hospital, and Cancer Research Institute Ghent (CRIG), Ghent University, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Gutiérrez-Enríquez+S%22">Gutiérrez-Enríquez S</searchLink>; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Santamariña+M%22">Santamariña M</searchLink>; Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.<br /><searchLink fieldCode="AU" term="%22Caputo+SM%22">Caputo SM</searchLink>; Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Santana+Dos+Santos+E%22">Santana Dos Santos E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Soukupova+J%22">Soukupova J</searchLink>; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Janatova+M%22">Janatova M</searchLink>; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Zemankova+P%22">Zemankova P</searchLink>; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Lhotova+K%22">Lhotova K</searchLink>; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Stolarova+L%22">Stolarova L</searchLink>; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Borecka+M%22">Borecka M</searchLink>; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Moles-Fernández+A%22">Moles-Fernández A</searchLink>; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Manoukian+S%22">Manoukian S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Bonanni+B%22">Bonanni B</searchLink>; Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Edwards+SL%22">Edwards SL</searchLink>; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.<br /><searchLink fieldCode="AU" term="%22Blok+MJ%22">Blok MJ</searchLink>; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Overeem+Hansen+T%22">van Overeem Hansen T</searchLink>; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Rossing+M%22">Rossing M</searchLink>; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Diez+O%22">Diez O</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Vega+A%22">Vega A</searchLink>; Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.<br /><searchLink fieldCode="AU" term="%22Claes+KBM%22">Claes KBM</searchLink>; Center for Medical Genetics, Ghent University Hospital, and Cancer Research Institute Ghent (CRIG), Ghent University, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Goldgar+DE%22">Goldgar DE</searchLink>; Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah.<br /><searchLink fieldCode="AU" term="%22Rouleau+E%22">Rouleau E</searchLink>; Gustave Roussy, Villejuif, France.<br /><searchLink fieldCode="AU" term="%22Radice+P%22">Radice P</searchLink>; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Peterlongo+P%22">Peterlongo P</searchLink>; IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Rogan+PK%22">Rogan PK</searchLink>; University of Western Ontario, Department of Biochemistry, Schulich School of Medicine and Dentistry, London, Ontario, Canada.; CytoGnomix Inc., London, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Caligo+M%22">Caligo M</searchLink>; Section of Molecular Genetics, Department of Laboratory Medicine, University Hospital of Pisa, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Spurdle+AB%22">Spurdle AB</searchLink>; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.<br /><searchLink fieldCode="AU" term="%22Brown+MA%22">Brown MA</searchLink>; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia.
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  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2018 Dec; Vol. 39 (12), pp. 2025-2039. <i>Date of Electronic Publication: </i>2018 Sep 24.
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