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Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.

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第一作者: Gorka,Ruiz de Garibay
第一单位: ProCURE, Oncobell, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet del Llobregat, Barcelona, Catalonia, Spain.
作者单位: ProCURE, Oncobell, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet del Llobregat, Barcelona, Catalonia, Spain. [1] Department of Radiation Oncology, New York University School of Medicine, New York, New York, USA. [2] Equipe GENDEV, INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, Université Lyon 1, Université St Etienne, Lyon, France. [3] School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK. [4] Department of Biopathology, Pathology Research Platform, Centre Léon Bérard, Lyon, France. [5] Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark. [6] Gene Regulation, Stem Cells and Cancer, Center for Genomic Regulation (CRG), Barcelona, Catalonia, Spain. [7] Regenerative Medicine Program, Bellvitge Institute for Biomedical Research (IDIBELL) and Program for Clinical Translation of Regenerative Medicine in Catalonia (P-CMRC), L'Hospitalet del Llobregat, Barcelona, Spain. [8] Regenerative Medicine Program, Bellvitge Institute for Biomedical Research (IDIBELL) and Program for Clinical Translation of Regenerative Medicine in Catalonia (P-CMRC), L'Hospitalet del Llobregat, Barcelona, Spain.;Centre for Networked Biomedical Research on Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Madrid, Spain.;Catalan Institution for Research and Advanced Studies, Barcelona, Spain. [9] Catalan Institution for Research and Advanced Studies, Barcelona, Spain.;Department of Genome Sciences, The John Curtin School of Medical Research, EMBL Australia Partner Laboratory Network, Australian National University, Canberra, Australia. [10] Department of Biochemistry and Molecular Biology, University Institute of Oncology, University of Oviedo, Oviedo, Spain.;Biomedical Research Centre in Cancer (CIBERONC), Instituto Salud Carlos III, Madrid, Spain. [11] Hereditary Cancer Program, Catalan Institute of Oncology, Oncobell, Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet del Llobregat, and Girona Biomedical Research Institute (IDIBGI), Girona, Catalonia, Spain. [12] Biomedical Research Centre in Cancer (CIBERONC), Instituto Salud Carlos III, Madrid, Spain.;Hereditary Cancer Program, Catalan Institute of Oncology, Oncobell, Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet del Llobregat, and Girona Biomedical Research Institute (IDIBGI), Girona, Catalonia, Spain. [13] Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon/Centre Léon Bérard, Lyon, France. [14] Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK. [15] Unit of Molecular Bases of Genetic Risk and Genetic Testing, Research Department, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy. [16] Genetics and Computational Division, QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia. [17] Biomedical Research Centre in Cancer (CIBERONC), Instituto Salud Carlos III, Madrid, Spain.;Molecular Oncology Laboratory, Hospital Clínico San Carlos, Health Research Institute of the Hospital Clínico San Carlos (IdISSC), Madrid, Spain. [18] School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.;Wessex Clinical Genetics Service, Southampton University Hospital NHS Trust, Southampton, UK. [19] Department of Radiation Oncology, New York University School of Medicine, New York, New York, USA.;Department of Radiation Oncology, School of Medicine, University of California San Francisco, San Francisco, California, USA. [20]
DOI 10.1002/humu.24276
PMID 34420246
发布时间 2022-05-17
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