Béroud Christophe, Letovsky Stanley I, Braastad Corey D, Caputo Sandrine M, Beaudoux Olivia, Bignon Yves Jean, Bressac-De Paillerets Brigitte, Bronner Myriam, Buell Crystal M, Collod-Béroud Gwenaëlle, Coulet Florence, Derive Nicolas, Divincenzo Christina, Elzinga Christopher D, Garrec Céline, Houdayer Claude, Karbassi Izabela, Lizard Sarab, Love Angela, Muller Danièle, Nagan Narasimhan, Nery Camille R, Rai Ghadi, Revillion Françoise, Salgado David, Sévenet Nicolas, Sinilnikova Olga, Sobol Hagay, Stoppa-Lyonnet Dominique, Toulas Christine, Trautman Edwin, Vaur Dominique, Vilquin Paul, Weymouth Katelyn S, Willis Alecia, Eisenberg Marcia, Strom Charles M
Aix Marseille Univ, INSERM, GMGF, Marseille, France.
APHM, Hôpital TIMONE Enfants, Laboratoire de Génétique Moléculaire, Marseille, France.
Hum Mutat. 2016 Dec;37(12):1318-1328. doi: 10.1002/humu.23113. Epub 2016 Sep 28.
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.
随着新一代测序技术使人们能够更便捷地获取人类基因变异信息,确定变异临床意义的挑战变得愈发严峻。BRCA1和BRCA2基因中的种系变异可显著增加患乳腺癌和卵巢癌的终生风险。评估变异的致病性是这些基因临床基因检测的重要组成部分。BRCA变异临床观察数据库是这一过程中的关键资源。本文介绍了BRCA Share™,这是一个由学术中心和商业检测实验室组成的独特国际联盟创建的数据库。通过将法国Unicancer遗传集团生成的通用突变数据库的内容与两家大型商业实验室(奎斯特诊断公司和美国实验室公司(LabCorp))的检测结果相结合,BRCA Share™汇集了目前可公开获取的最大的BRCA变异集合之一。虽然学术研究人员可免费访问,但该项目的商业参与者需支付支持费用并提供他们的数据。这些费用用于持续的整理工作以及计划中的对意义不确定的变异进行功能表征的实验。因此,BRCA Share™数据库可被视为私营公司与学术界成功数据共享的典范。