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

Authors :
Melissa S Cline
Rachel G Liao
Michael T Parsons
Benedict Paten
Faisal Alquaddoomi
Antonis Antoniou
Samantha Baxter
Larry Brody
Robert Cook-Deegan
Amy Coffin
Fergus J Couch
Brian Craft
Robert Currie
Chloe C Dlott
Lena Dolman
Johan T den Dunnen
Stephanie O M Dyke
Susan M Domchek
Douglas Easton
Zachary Fischmann
William D Foulkes
Judy Garber
David Goldgar
Mary J Goldman
Peter Goodhand
Steven Harrison
David Haussler
Kazuto Kato
Bartha Knoppers
Charles Markello
Robert Nussbaum
Kenneth Offit
Sharon E Plon
Jem Rashbass
Heidi L Rehm
Mark Robson
Wendy S Rubinstein
Dominique Stoppa-Lyonnet
Sean Tavtigian
Adrian Thorogood
Can Zhang
Marc Zimmermann
BRCA Challenge Authors
John Burn
Stephen Chanock
Gunnar Rätsch
Amanda B Spurdle
Source :
PLoS Genetics, Vol 14, Iss 12, p e1007752 (2018)
Publication Year :
2018
Publisher :
Public Library of Science (PLoS), 2018.

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, 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.

Subjects

Subjects :
Genetics
QH426-470

Details

Language :
English
ISSN :
15537390 and 15537404
Volume :
14
Issue :
12
Database :
Directory of Open Access Journals
Journal :
PLoS Genetics
Publication Type :
Academic Journal
Accession number :
edsdoj.3d040669de2049168c109d5c746eac9a
Document Type :
article
Full Text :
https://doi.org/10.1371/journal.pgen.1007752