Jan. 14 (UPI) -- The compilation of deadly gene variants in a new database could pave the way for digitized cancer research on risk and treatment, researchers say.
The BRCA Exchange contains more than 20,000 unique BRCA1 and BRCA2 variants, known to increase the risk of breast, ovarian, and other cancers, researchers who organized it reported in a study published in the journal PLOS One. This exchange is a part of a larger information sharing initiative to help fight cancer.
The five-year BRCA Challenge that led to the database is an outgrowth of and partially funded by the Beau Biden Moonshot Act, the "Cancer Moonshot" effort launched by former President Barack Obama.
"The BRCA Challenge is a long-term data-sharing project initiated within the Global Alliance for Genomics and Health (GA4GH) to aggregate data on inherited mutations in BRCA1 and BRCA2 to generate an informed and current understanding of the impact of variation in these genes on cancer risk," Stephen J. Chanock, director of the Division of Cancer Epidemiology and Genetics at the National Cancer Institute.
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The BRCA Exchange is made up of information from the Breast Cancer Information Core, ClinVar and the Leiden Open Variation Database, along with population databases and information from clinicians, clinical laboratories and researchers around the globe.
The data has been made available on the web, making it easily accessible to clinicians, data scientists, researchers and patients. The benefits of publicly sharing this data, Chanock said, are significant.
"This 'big data' resource allows clinicians and individuals to review expert classification of variants in these major cancer predisposition genes, providing critical insights for complex questions of cancer prevention, screening, and intervention for high-risk patients," Chanock said. "As a public resource, it enhances the opportunities for subjects to be better informed about the classification of genetic variants in BRCA1/BRCA2."
In all, the database holds more than 6,100 variants, which can help clinicians know if the variant found in patients could potentially lead to cancer. The Evidence-based Network for the Interpretation of Germline Mutant Alleles, or ENIGMA, has classified those variants and identified about 3,700 of those variants as disease-causing.
Along with information sharing, the exchange also serves as a model for other researchers to create other exchange systems to combat other forms of cancer.
"So far, we are one of the first groups to make broadly available the expert classification," Chanock said. "We hope that others will be encouraged by the BRCA Exchange as proof-of-principle for similar investigations of other high-risk cancer predisposition genes."
