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PMID: 27633797 已发表 · ppublish 英语

BRCA Share: A Collection of Clinical BRCA Gene Variants.

Human mutation ·第 37 卷 ·第 12 期 ·0000-00-00

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

摘要

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.

关键词
BRCA1 BRCA2 NGS breast cancer genetic databases ovarian cancer variant classification
文献信息
期刊
Human mutation
期刊简称
Hum Mutat
发表日期
0000-00-00
收录日期
2016-09-28
更新日期
2016-11-21
语言
英语
国家/地区
United States
NLM ID
9215429
分析服务
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