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abstract
As next generation sequencing
(NGS) 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 critical part of clinical
genetic testing for these genes. A database of clinical observations of BRCA
variants is a critical resource in that process. This paper 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 (UMD) generated by the
French Unicancer Genetic Group (UGG) 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.
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