domingo, 12 de marzo de 2017

BRCA Share: A Collection of Clinical BRCA Gene Variants. - PubMed - NCBI

BRCA Share: A Collection of Clinical BRCA Gene Variants. - PubMed - NCBI



 2016 Dec;37(12):1318-1328. doi: 10.1002/humu.23113. Epub 2016 Sep 28.

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.

KEYWORDS:

BRCA1; BRCA2; NGS; breast cancer; genetic databases; ovarian cancer; variant classification

PMID:
 
27633797
 
DOI:
 
10.1002/humu.23113






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