Our team is regularly updating and curating annotations, most recently the BRCA Exchange. Breast cancer is known to occur in approximately 10% of the female population and if there is a damaging mutation in the breast cancer gene (BRCA), that rate increases to 65%. Although genetic testing can identify mutations in BRCA, a tumor suppressor gene, it has been difficult to understand the biological impact due to restrictions on population and clinical level data. This prompted the idea of a BRCA genetic database, which eventually culminated in the development of BRCA Exchange.
It was in 2014, at the meeting of Global Alliance for Genomics and Health, where Professor Sir John Burn of Newcastle University proposed a BRCA-specific data sharing experiment. The database that resulted was BRCA Exchange, which now aims to create a global repository of BRCA mutations to provide better information to patients and their family.
BRCA Exchange focuses on advancing the current understanding of the genetic basis of breast cancer, as well as ovarian, pancreatic and other cancers by pooling data on BRCA1/2 genetic variants. This database also associates the corresponding clinical data which is reviewed by international experts affiliated with the ENIGMA consortium. This information is then made public for all to use.
Figure 1: BRCA Exchange displays close to 50 individual fields.
BRCA Exchange is also curated by Golden Helix and can be found in the public annotations folder. As mentioned, it is unique as it is a single source that collects and organizes existing information and retrieves data from a variety of databases, such as ClinVar and LOVD. Currently, this database is the largest public source for information on BRCA1 and BRCA2 variants, which collectively has 40,333 unique variants that can be used for research and clinical purposes.
Figure 2: BRCA Exchange is curated by Golden Helix and offers expert information on BRCA1/2 variants.
Hopefully, this database can increase your interpretations of BRCA variants and alleviate the complexity of outsourcing to different sites. BRCA Exchange is a great resource and will continue to improve as more information is learned about BRCA variants and associated clinical data. Thank you for reading this blog and if there are any questions, please feel free to reach out to info@goldenhelix.com or check out our other blogs for other interesting news and updates.