BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2
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DOI：
10.1371/journal.pgen.1007752
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发表时间：
2018-12-01
期刊：
影响因子：
4.5
通讯作者：
Tavtigian, Sean
中科院分区：
文献类型：
--
作者：
Cline, Melissa S.;Liao, Rachel G.;Tavtigian, Sean
BRCA挑战是全球基因组学与健康联盟（GA4GH）发起的一项长期数据共享项目，旨在汇总BRCA1和BRCA2数据，以支持高度合作的研究活动。它的目标是在标志性的癌症易感基因BRCA1和BRCA2中产生对遗传变异对癌症风险影响的知情和当前理解。最初，将公共数据库中报告的BRCA 1和BRCA 2变异整合到一个新创建的网站www.brcaexchange.org中。BRCA交换的目的是为社区提供可靠且易于访问的高突变率表型变异记录。已汇总了20，000多个变体，是项目开始时第二大公共数据库中发现的数量的三倍，其中约7，250个具有专家分类。该数据集基于现有临床数据库（乳腺癌信息核心（BIC）、ClinVar和莱顿开放变异数据库（LOVD））以及人口数据库的共享信息，所有数据库都链接到一个访问点。BRCA挑战赛汇集了现有的国际生殖系突变等位基因解释循证网络（ENIGMA）联盟专家小组，沿着专家临床医生，诊断医生，研究人员和数据库提供商，所有这些都有一个共同的目标，即促进我们对BRCA 1和BRCA 2变异的理解。正在进行的工作包括与能够获得BRCA 1和BRCA 2诊断数据的国家中心直接联系，以鼓励数据共享，开发适合在个体实验室报告水平提取遗传变异的方法，并与参与社区进行接触，以更全面地了解BRCA 1和BRCA 2遗传变异的临床意义。
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.