title: BRCA Share: A Collection of Clinical BRCA Gene Variants.
abstract: 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 ovarian cancer. Assessment of variant pathogenicity is a vital part of clinical genetic testing for these genes. A database of clinical observations of BRCA variants is a critical resource in that process. This article describes BRCA Share™, 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™ 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 curation effort, as well as planned experiments to functionally characterize variants of uncertain significance. BRCA Share™ databases can therefore be considered as models of successful data sharing between private companies and the academic world.
authors.affiliation: Aix Marseille Univ, INSERM, GMGF, Marseille, France.|APHM, Hôpital TIMONE Enfants, Laboratoire de Génétique Moléculaire, Marseille, France.
authors.forename: Christophe
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authors.lastname: Béroud
authors.affiliation: Laboratory Corporation of America, Westborough, Massachusetts.
authors.forename: Stanley I
authors.initials: SI
authors.lastname: Letovsky
authors.affiliation: Quest Diagnostics, Marlborough, Massachusetts.
authors.forename: Corey D
authors.initials: CD
authors.lastname: Braastad
authors.affiliation: Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris, France.
authors.forename: Sandrine M
authors.initials: SM
authors.lastname: Caputo
authors.affiliation: CHU et Institut Jean Godinot, Reims, France.
authors.forename: Olivia
authors.initials: O
authors.lastname: Beaudoux
authors.affiliation: Centre Jean Perrin, Clermont-Ferrand, France.
authors.forename: Yves Jean
authors.initials: YJ
authors.lastname: Bignon
authors.affiliation: Institut Gustave Roussy, Villejuif, France.
authors.forename: Brigitte
authors.initials: B
authors.lastname: Bressac-De Paillerets
authors.affiliation: CHU de Nancy-Brabois, Vandoeuvre-lés-Nancy, France.
authors.forename: Myriam
authors.initials: M
authors.lastname: Bronner
authors.affiliation: Quest Diagnostics, Marlborough, Massachusetts.
authors.forename: Crystal M
authors.initials: CM
authors.lastname: Buell
authors.affiliation: Aix Marseille Univ, INSERM, GMGF, Marseille, France.
authors.forename: Gwenaëlle
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authors.lastname: Collod-Béroud
authors.affiliation: Groupe hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Laboratoire d'Oncogénétique et Angiogénétique moléculaire, Université Pierre et Marie Curie, Paris, France.
authors.forename: Florence
authors.initials: F
authors.lastname: Coulet
authors.affiliation: Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Derive
authors.affiliation: Quest Diagnostics, Marlborough, Massachusetts.
authors.forename: Christina
authors.initials: C
authors.lastname: Divincenzo
authors.affiliation: Quest Diagnostics, Marlborough, Massachusetts.
authors.forename: Christopher D
authors.initials: CD
authors.lastname: Elzinga
authors.affiliation: CHU, Institut de Biologie, Hôtel Dieu, Nantes, France.
authors.forename: Céline
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authors.lastname: Garrec
authors.affiliation: Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris, France.|Université Paris Descartes, Paris, France.
authors.forename: Claude
authors.initials: C
authors.lastname: Houdayer
authors.affiliation: Quest Diagnostics, Marlborough, Massachusetts.
authors.forename: Izabela
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authors.lastname: Karbassi
authors.affiliation: CHU de Dijon, Hôpital d'Enfants, Service de Génétique Médicale, Dijon, France.
authors.forename: Sarab
authors.initials: S
authors.lastname: Lizard
authors.affiliation: Quest Diagnostics, Marlborough, Massachusetts.
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authors.initials: A
authors.lastname: Love
authors.affiliation: Centre Paul Strauss, Strasbourg, France.
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authors.lastname: Muller
authors.affiliation: Laboratory Corporation of America, Westborough, Massachusetts.
authors.forename: Narasimhan
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authors.affiliation: Quest Diagnostics, San Juan Capistrano, California.
authors.forename: Camille R
authors.initials: CR
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authors.affiliation: Aix Marseille Univ, INSERM, GMGF, Marseille, France.
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authors.lastname: Rai
authors.affiliation: Centre Oscar Lambret, Unité d'Oncologie Moléculaire Humaine, Lille, France.
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authors.lastname: Revillion
authors.affiliation: Aix Marseille Univ, INSERM, GMGF, Marseille, France.
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authors.lastname: Salgado
authors.affiliation: Institut Bergonié, Bordeaux, France.
authors.forename: Nicolas
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authors.lastname: Sévenet
authors.affiliation: Hospices Civils de Lyon and Centre Léon Bérard, Lyon, France.
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authors.lastname: Sinilnikova
authors.affiliation: Institut Paoli-Calmettes, Marseille, France.
authors.forename: Hagay
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authors.lastname: Sobol
authors.affiliation: Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris, France.|Université Paris Descartes, Paris, France.
authors.forename: Dominique
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authors.lastname: Stoppa-Lyonnet
authors.affiliation: Institut Claudius Régaud, Toulouse, France.
authors.forename: Christine
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authors.lastname: Toulas
authors.affiliation: Laboratory Corporation of America, Westborough, Massachusetts.
authors.forename: Edwin
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authors.lastname: Trautman
authors.affiliation: Laboratoire de biologie et de génétique du cancer, CLCC François Baclesse, INSERM 1079 Centre Normand de Génomique et de Médecine Personnalisée, Caen, France.
authors.forename: Dominique
authors.initials: D
authors.lastname: Vaur
authors.affiliation: Laboratoire de Biologie Cellulaire et Hormonale (CHU Arnaud de Villeneuve), Montpellier, France.
authors.forename: Paul
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authors.lastname: Vilquin
authors.affiliation: Laboratory Corporation of America, Westborough, Massachusetts.
authors.forename: Katelyn S
authors.initials: KS
authors.lastname: Weymouth
authors.affiliation: Laboratory Corporation of America, Research Triangle Park, North Carolina.
authors.forename: Alecia
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authors.lastname: Willis
authors.affiliation: Laboratory Corporation of America, Westborough, Massachusetts.|Laboratory Corporation of America, Research Triangle Park, North Carolina.
authors.affiliation: Quest Diagnostics, Marlborough, Massachusetts.|Quest Diagnostics, San Juan Capistrano, California.
authors.affiliation: Laboratory Corporation of America, Research Triangle Park, North Carolina.
authors.forename: Marcia
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authors.lastname: Eisenberg
authors.affiliation: Quest Diagnostics, San Juan Capistrano, California.
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mesh_terms: D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D066289:Data Curation; D016208:Databases, Factual / Q000191:economics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics*
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein; C551750:BRCA2 protein, human
keywords: BRCA1; BRCA2; NGS; breast cancer; genetic databases; ovarian cancer; variant classification