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Article Dans Une Revue Human Mutation Année : 2016

BRCA Share: A Collection of Clinical BRCA Gene Variants

Stanley I Letovsky
  • Fonction : Auteur
Corey D Braastad
  • Fonction : Auteur
Crystal M Buell
  • Fonction : Auteur
Christina Divincenzo
  • Fonction : Auteur
Christopher D Elzinga
  • Fonction : Auteur
Izabela Karbassi
  • Fonction : Auteur
Angela Love
  • Fonction : Auteur
Narasimhan Nagan
  • Fonction : Auteur
Camille R Nery
  • Fonction : Auteur
Edwin Trautman
  • Fonction : Auteur
Paul Vilquin
  • Fonction : Auteur
Katelyn S Weymouth
  • Fonction : Auteur
Marcia Eisenberg
  • Fonction : Auteur
Charles M Strom
  • Fonction : Auteur

Résumé

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.
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Dates et versions

hal-01670197 , version 1 (21-12-2017)

Identifiants

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Christophe Béroud, Stanley I Letovsky, Corey D Braastad, Sandrine M Caputo, Olivia Beaudoux, et al.. BRCA Share: A Collection of Clinical BRCA Gene Variants. Human Mutation, 2016, Next Generation Sequencing and Human Genetic Disease, 37 (12), pp.1318-1328. ⟨10.1002/humu.23113⟩. ⟨hal-01670197⟩
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