BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2 Journal Article

Authors: Cline, M. S.; Liao, R. G.; Parsons, M. T.; Paten, B.; Alquaddoomi, F.; Antoniou, A.; Baxter, S.; Brody, L.; Cook-Deegan, R.; Coffin, A.; Couch, F. J.; Craft, B.; Currie, R.; Dlott, C. C.; Dolman, L.; den Dunnen, J. T.; Dyke, S. O. M.; Domchek, S. M.; Easton, D.; Fischmann, Z.; Foulkes, W. D.; Garber, J.; Goldgar, D.; Goldman, M. J.; Goodhand, P.; Harrison, S.; Haussler, D.; Kato, K.; Knoppers, B.; Markello, C.; Nussbaum, R.; Offit, K.; Plon, S. E.; Rashbass, J.; Rehm, H. L.; Robson, M.; Rubinstein, W. S.; Stoppa-Lyonnet, D.; Tavtigian, S.; Thorogood, A.; Zhang, C.; Zimmermann, M.; BRCA Challenge Authors; Burn, J.; Chanock, S.; Rätsch, G.; Spurdle, A. B.
Article Title: BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2
Abstract: 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, 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 6,150 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. © 2018, Public Library of Science. All rights reserved.
Journal Title: PLoS Genetics
Volume: 14
Issue: 12
ISSN: 1553-7390
Publisher: Public Library of Science  
Date Published: 2018-12-26
Start Page: e1007752
Language: English
DOI: 10.1371/journal.pgen.1007752
PUBMED: 30586411
PROVIDER: scopus
PMCID: PMC6324924
Notes: Article -- Export Date: 1 February 2019 -- Source: Scopus
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MSK Authors
  1. Kenneth Offit
    496 Offit
  2. Mark E Robson
    358 Robson
  3. Gunnar Ratsch
    44 Ratsch