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

Published version
Peer-reviewed

Type

Article

Change log

Authors

Cline, Melissa S 
Paten, Benedict 
Alquaddoomi, Faisal  ORCID logo  https://orcid.org/0000-0003-4297-8747

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.

Description

Keywords

Alleles, Breast Neoplasms, Databases, Genetic, Female, Gene Frequency, Genes, BRCA1, Genes, BRCA2, Genetic Predisposition to Disease, Genetic Variation, Humans, Information Dissemination, Male, Mutation, Ovarian Neoplasms, Penetrance, Phenotype, Risk Factors

Journal Title

PLoS Genet

Conference Name

Journal ISSN

1553-7390
1553-7404

Volume Title

14

Publisher

Public Library of Science (PLoS)

Rights

CC0 No rights reserved