Description
BRCAExchange.org
aims to advance our understanding of the genetic basis of breast cancer,
ovarian cancer and other diseases by pooling data on BRCA1/2 genetic variants
and corresponding clinical data from around the world.
An estimated 55 to 65% of women who inherit a pathogenic BRCA variant will develop breast cancer by the age of 70, versus 12% of all women. Further, while approximately 1.3% of women will develop ovarian cancer by age 70, this risk rises to 39% and 17% for women with pathogenic BRCA1 and BRCA2 variants respectively. This has led many women to undergo BRCA testing to understand and manage their risk. Unfortunately, many women will be informed that they carry a Variant of Unknown Significance (VUS). Research on BRCA variation was long hindered by a private gene patent. Gene patenting was struck down by the U.S. Supreme Court in 2012, but in its wake, the data on BRCA variation has remained fragmented with no single source for all available data. Consequently, most doctors and geneticists have been working with incomplete information. To address this need, the Global Alliance for Genomics and Health (GA4GH) launched the BRCA Challenge, a consortium with a goal of cataloguing all public knowledge on BRCA variation. Through this effort, we developed BRCA Exchange (http://www.brcaexchange.org), which aggregates and unifies knowledge from genetic repositories including ClinVar, LOVD, 1000 Genomes, ExAC, BIC, exLOVD, ESP and ENIGMA. BRCA Exchange is currently the largest public repository of BRCA variation, with over 16,700 variants. These data are publicly available to view, download, and query via the GA4GH API. Our collaborators in the ENIGMA consortium are utilizing this data for expert curation of BRCA variants. Since we launched BRCA Exchange one year ago, they have tripled the number of variants that they have curated, with expert reviews of close to 3300 variants. Moving forward, we are working with ENIGMA to identify and aggregate the information needed to curate additional variants, including family history and case-level data.
Display conventions
Colors are used to indicate the database-curated pathogenicity:
| Red: At least one database classified the variant as pathogenic |
| Blue: Not pathogenic by any database but classified by one database as benign |
| Grey: None of the above and a database classified as "variant of unknown significance" |
| Orange: Conflicting classification of the variant ("discordant"). |
| Black: No classification of the variant in any database. |
You can hover with your mouse over features to show more data about variants: the cDNA HGVS and annotated pathogenicity.
Data access
The database can be downloaded from the the BRCAExchange.org Download page.
References
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US Server