Skip to main content
Initial data from the BRCA Challenge is now available at

It has long been recognized that there is a need for global integration of data and activities on the genes that predispose for breast and ovarian cancer, particularly BRCA1 and BRCA2. The greatest need is for consistent data collection methodologies and variant interpretation process that operate internationally. In March 2014 at the inaugural Global Alliance for Genomics and Health meeting, Professor Sir John Burn, Human Variome Project Scientific Director for Europe and Africa, proposed a joint initiative of the Global Alliance for Genomics and Health and the Human Variome Project in this area. This collaborative initiative was approved and Sir John was named co-chair of the BRCA Challenge, alongside Stephen Channock from the Laboratory of Translational Genomics at the National Cancer Institute.

To bring focus to the BRCA Challenge, an initial meeting took place in May 2014 at the 5th Biennial Human Variome Project Meeting held at UNESCO headquarters Paris to initiate dialogue between the many groups working on the topic around the world.

Major Groups represented at the HVP5 UNESCO meeting were: 

  • BCAC
  • BIC
  • ClinGen & ClinVar
  • Global Alliance for Genomics and Health
  • HCI
  • Human Variome Project
  • InSiGHT
  • kConFab
  • LOVD Databases
  • SCRP
  • UMD

The overall aim of the BRCA Challenge is to apply the latest techniques of genetics and genomics to the delivery of health services related to breast cancer. The Challenge will seek to promote the responsible collection, curation, sharing and use of variation data derived from genomic and genetic sequencing in many countries, and create a harmonious data sharing approach between existing databases. This approach will enable the quick and cost-effective delivery of healthcare by providing clinically actionable information in a consistent fashion across the globe.

The BRCA Challenge has three deliverables:

  1. Develop population-based assessment of allele frequencies of variants using available sequencing resources
    • Develop a solution for data in existing datasets, including:
      • 1000 Genomes
      • UK10K
      • NHLBI Grand Opportunity Exome Sequencing Project
      • Cancer Genome Atlas
      • International Cancer Genome Consortium
    • Expand the resource to incorporate new NGS data
  2. Build federated data collection methodology for pathogenic variants of BRCA1 & BRCA2
    • Build structure for data sharing
      • Begin with BIC/LOVD/UMD/ClinVar
      • Fully integrate ENIGMA/CIMBA & other consortia
      • Invite diagnostic/other data sources
    • Establish consensus on terminology
      • Begin with non-controversial variants (highly pathogenic & benign)
      • Work towards common classification applied to all data available in 'Federated' data base
  3. Improve and refine penetrance for select mutations
    • Predicated on achieving deliverables 1 & 2
    • Requires extensive planning and collection- primarily of prospective data

The BRCA Challenge will not duplicate or compete with the work of already established groups; rather it will seek to work with all existing activities in the field to add value to and support their work in a sustainable way.

More information on the BRCA Challenge can be found on the website of the Global Alliance for Genomics and Health.