publication date: Jan. 11, 2019
NCI’s BRCA Exchange aggregates data on BRCA variants to inform understanding of risk
A global resource that includes data on thousands of inherited variants in the BRCA1 and BRCA2 genes is available to the public. The BRCA Exchange was created through the BRCA Challenge, a long-term demonstration project initiated by the Global Alliance for Genomics and Health to enhance sharing of BRCA1 and BRCA2 data.
The five-year BRCA Challenge project was funded in part by NCI and Cancer Moonshot. PLOS Genetics published the paper detailing development of the BRCA Exchange on Jan. 8.
The resource, available through a website and a new smartphone app, allows clinicians to review expert classifications of variants in these major cancer predisposition genes as part of their individual assessment of complex questions related to cancer prevention, screening, and intervention for high-risk patients.
Certain inherited variants in these genes can increase the risk of breast, ovarian, and other cancers by varying degrees, whereas others are not associated with disease. Clinicians and patients need to know whether a given variant is likely to be disease-associated and how likely a pathogenic variant is to cause cancer. Until now, the available data on the inherited variants in these genes were not aggregated in a comprehensive way.
The BRCA Exchange dataset is composed of information from existing clinical databases—the Breast Cancer Information Core, ClinVar, and the Leiden Open Variation Database—as well as population databases and data from clinicians, clinical laboratories, and researchers worldwide. It currently includes more than 20,000 unique BRCA1 and BRCA2 variants.
More than 6,100 variants in the database have been classified by an expert panel, the Evidence-based Network for the Interpretation of Germline Mutant Alleles, … Continue reading NCI’s BRCA Exchange aggregates data on BRCA variants to inform understanding of risk
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