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Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Thomassen, Mads; Mesman, Romy L S; Hansen, Thomas V O; Menendez, Mireia; Rossing, Maria; Esteban-Sánchez, Ada; Tudini, Emma; Törngren, Therese; Parsons, Michael T; Pedersen, Inge S; Teo, Soo H; Kruse, Torben A; Møller, Pål; Borg, Åke; Jensen, Uffe B; Christensen, Lise L; Singer, Christian F; Muhr, Daniela; Santamarina, Marta; Brandao, Rita; Andresen, Brage S; Feng, Bing-Jian; Canson, Daffodil; Richardson, Marcy E; Karam, Rachid; Pesaran, Tina; LaDuca, Holly; Conner, Blair R; Abualkheir, Nelly; Hoang, Lily; Calléja, Fabienne M G R; Andrews, Lesley; James, Paul A; Bunyan, Dave; Hamblett, Amanda; Radice, Paolo; Goldgar, David E; Walker, Logan C; Engel, Christoph; Claes, Kathleen B M; Machácková, Eva; Baralle, Diana; Viel, Alessandra; Wappenschmidt, Barbara; Lazaro, Conxi; Vega, Ana; Vreeswijk, Maaike P G; de la Hoya, Miguel; Spurdle, Amanda B.
Afiliação
  • Thomassen M; Department of Clinical Genetics, Odense University Hospital, Odence C, Denmark.
  • Mesman RLS; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
  • Hansen TVO; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Menendez M; Hereditary Cancer Program, Catalan Institute of Oncology, ONCOBELL-IDIBELL-IDTP, CIBERONC, Hospitalet de Llobregat, Spain.
  • Rossing M; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Esteban-Sánchez A; Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
  • Tudini E; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
  • Törngren T; Division of Oncology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.
  • Parsons MT; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
  • Pedersen IS; Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark.
  • Teo SH; Clinical Cancer Research Center, Aalborg University Hospital, Aalborg, Denmark.
  • Kruse TA; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark.
  • Møller P; Breast Cancer Research Programme, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia.
  • Borg Å; Department of Surgery, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
  • Jensen UB; Department of Clinical Genetics, Odense University Hospital, Odence C, Denmark.
  • Christensen LL; Department of Tumour Biology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
  • Singer CF; Division of Oncology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.
  • Muhr D; Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark.
  • Santamarina M; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.
  • Brandao R; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
  • Andresen BS; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
  • Feng BJ; Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.
  • Canson D; Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, Spain.
  • Richardson ME; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
  • Karam R; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
  • Pesaran T; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense, Denmark.
  • LaDuca H; Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA.
  • Conner BR; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
  • Abualkheir N; Ambry Genetics, Aliso Viejo, California, USA.
  • Hoang L; Ambry Genetics, Aliso Viejo, California, USA.
  • Calléja FMGR; Ambry Genetics, Aliso Viejo, California, USA.
  • Andrews L; Ambry Genetics, Aliso Viejo, California, USA.
  • James PA; Ambry Genetics, Aliso Viejo, California, USA.
  • Bunyan D; Ambry Genetics, Aliso Viejo, California, USA.
  • Hamblett A; Ambry Genetics, Aliso Viejo, California, USA.
  • Radice P; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
  • Goldgar DE; Hereditary Cancer Clinic, Nelune Comprehensive Cancer Care Centre, Sydney, New South Wales, Australia.
  • Walker LC; Parkville Familial Cancer Centre, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia.
  • Engel C; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia.
  • Claes KBM; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Machácková E; Middlesex Health Shoreline Cancer Center, Westbrook, Connecticut, USA.
  • Baralle D; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy.
  • Viel A; Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA.
  • Wappenschmidt B; Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
  • Lazaro C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
  • Vega A; Centre for Medical Genetics, Ghent University, Gent, Belgium.
  • Vreeswijk MPG; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
  • de la Hoya M; Division of Functional Onco-genomics and Genetics, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano, Italy.
  • Spurdle AB; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Hum Mutat ; 43(12): 1921-1944, 2022 12.
Article em En | MEDLINE | ID: mdl-35979650
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sítios de Splice de RNA / Genes BRCA2 Tipo de estudo: Guideline Limite: Animals / Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Dinamarca País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sítios de Splice de RNA / Genes BRCA2 Tipo de estudo: Guideline Limite: Animals / Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Dinamarca País de publicação: Estados Unidos