Journal
PLOS GENETICS
Volume 14, Issue 12, Pages -Publisher
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pgen.1007752
Keywords
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Categories
Funding
- Intramural Research Program, Division of Cancer Epidemiology and Genetics, NCI, Bethesda, MD
- Beau Biden Moonshot Act
- NHMRC [1061779]
- Can-SHARE
- Genome Quebec
- Genome Canada
- government of Canada
- Ministere de l'Economie, Innovation et Exportation du Quebec
- Canadian Institutes of Health Research [141210, FDN-148390]
- National Cancer Institute's ITCR program [5U24CA180951-05, 5U24CA210974-02]
- National Human Genome Research Institute [R01 HG 008918, U54HG007990, U01HG008676]
- ETH Zurich (core) funding
- AstraZeneca
- ClinGen grant [U41HG006834]
- Breast Cancer Research Foundation
- MSKCC Cancer Center Support grant/Core grant [P30 CA008748]
- National Cancer Institute [U24CA210999]
- Basser Center for BRCA (Philadelphia, PA)
- [1U41HG009649]
- National Health and Medical Research Council of Australia [1061779] Funding Source: NHMRC
Ask authors/readers for more resources
The BRCA Challenge is a long-term data-sharing project initiated within the Global Alliance for Genomics and Health (GA4GH) to aggregate BRCA1 and BRCA2 data to support highly collaborative research activities. Its goal is to generate an informed and current understanding of the impact of genetic variation on cancer risk across the iconic cancer predisposition genes, BRCA1 and BRCA2. Initially, reported variants in BRCA1 and BRCA2 available from public databases were integrated into a single, newly created site, www.brcaexchange.org. The purpose of the BRCA Exchange is to provide the community with a reliable and easily accessible record of variants interpreted for a high-penetrance phenotype. More than 20,000 variants have been aggregated, three times the number found in the next-largest public database at the project's outset, of which approximately 7,250 have expert classifications. The data set is based on shared information from existing clinical databases-Breast Cancer Information Core (BIC), ClinVar, and the Leiden Open Variation Database (LOVD)-as well as population databases, all linked to a single point of access. The BRCA Challenge has brought together the existing international Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium expert panel, along with expert clinicians, diagnosticians, researchers, and database providers, all with a common goal of advancing our understanding of BRCA1 and BRCA2 variation. Ongoing work includes direct contact with national centers with access to BRCA1 and BRCA2 diagnostic data to encourage data sharing, development of methods suitable for extraction of genetic variation at the level of individual laboratory reports, and engagement with participant communities to enable a more comprehensive understanding of the clinical significance of genetic variation in BRCA1 and BRCA2.
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