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BRCA Share: A Collection of Clinical BRCA Gene Variants

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  • معلومة اضافية
    • Contributors:
      Génétique Médicale et Génomique Fonctionnelle (GMGF); Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS); Institut Curie Paris; Institut Jean Godinot Reims; UNICANCER; Centre Jean Perrin Clermont-Ferrand (UNICANCER/CJP); Variabilité Génétique et Maladies Humaines; Institut Universitaire d'Hématologie (IUH); Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM); Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE); Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL); Génétique épidémiologique et moléculaire des pathologies cardiovasculaires; Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-Institut National de la Santé et de la Recherche Médicale (INSERM); Institut de biochimie et génétique cellulaires (IBGC); Université Bordeaux Segalen - Bordeaux 2-Centre National de la Recherche Scientifique (CNRS); Service de génétique médicale - Unité de génétique clinique Nantes; Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes); Université Paris Descartes - Paris 5 (UPD5); Département de Biologie et pathologie des tumeurs Centre Georges-François Leclerc; Centre Régional de Lutte contre le cancer Georges-François Leclerc Dijon (UNICANCER/CRLCC-CGFL); UNICANCER-UNICANCER; Centre Paul Strauss; CRLCC Paul Strauss; Laboratoire d'Oncologie Moléculaire Humaine; Centre Régional de Lutte contre le Cancer Oscar Lambret Lille (UNICANCER/Lille); Université Lille Nord de France (COMUE)-UNICANCER-Université Lille Nord de France (COMUE)-UNICANCER; Institut Bergonié Bordeaux; Centre Léon Bérard Lyon; Institut Paoli-Calmettes; Fédération nationale des Centres de lutte contre le Cancer (FNCLCC); Service de Génétique Oncologique; Equipe 11-E.Moyal/C.Toulas; Laboratoire de biologie clinique et oncologique; Centre Régional de Lutte contre le Cancer François Baclesse Caen (UNICANCER/CRLC); UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU); McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
    • بيانات النشر:
      HAL CCSD
      Wiley
    • الموضوع:
      2016
    • Collection:
      Archive ouverte HAL (Hyper Article en Ligne, CCSD - Centre pour la Communication Scientifique Directe)
    • نبذة مختصرة :
      International audience ; As next-generation sequencing increases access to human genetic variation, the challenge of determining clinical significance of variants becomes ever more acute. Germline variants in the BRCA1 and BRCA2 genes can confer substantial lifetime risk of breast and ovar-ian cancer. Assessment of variant pathogenicity is a vital part of clinical genetic testing for these genes. A database Additional Supporting Information may be found in the online version of this article. † These authors contributed equally to this work. ‡ This author is deceased. of clinical observations of BRCA variants is a critical resource in that process. This article describes BRCA Share TM , a database created by a unique international alliance of academic centers and commercial testing laboratories. By integrating the content of the Universal Mutation Database generated by the French Unicancer Genetic Group with the testing results of two large commercial laboratories, Quest Diagnostics and Laboratory Corporation of America (LabCorp), BRCA Share TM has assembled one of the largest publicly accessible collections of BRCA variants currently available. Although access is available to academic researchers without charge, commercial participants in the project are required to pay a support fee and contribute their data. The fees fund the ongoing cu-ration effort, as well as planned experiments to functionally characterize variants of uncertain significance. BRCA Share TM databases can therefore be considered as models of successful data sharing between private companies and the academic world.
    • Relation:
      info:eu-repo/semantics/altIdentifier/pmid/27633797; hal-01670197; https://hal.archives-ouvertes.fr/hal-01670197; https://hal.archives-ouvertes.fr/hal-01670197/document; https://hal.archives-ouvertes.fr/hal-01670197/file/2016-HumMut%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20HAL%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20BRCA%20Share.pdf; PUBMED: 27633797
    • الرقم المعرف:
      10.1002/humu.23113
    • Rights:
      info:eu-repo/semantics/OpenAccess
    • الرقم المعرف:
      edsbas.7CB85024