If you are a long-time user of BRCA Exchange, you may have noticed subtle differences in the visual appearance of the site. This is the start of a process that will make the platform more robust and extensible, and add new features for the user community.
We are proud and grateful to announce that in September 2025, we received a grant from the National Cancer Institute for the continued development and maintenance of BRCA Exchange! Under the five years of this grant, we will:
1. Refresh the BRCA Exchange software architecture while adopting new variant data standards. Users of our web portal will not see any major changes. For users of the API and release archives, we will be moving to a more modular data architecture, which should make working with the data considerably easier. We will continue to provide the same data that we currently provide. In addition, we will be sharing variant information with the GA4GH Variant Representation Specification (VRS) and variant annotations with the GA4GH Variant Annotation Specification (VA-Spec) to promote the interpretability of these data. Additionally, these changes will establish the foundation for BRCA Exchange to start sharing copy-number and structural variants, in addition to single-nucleotide and small insertion/deletion variants.
2. Share new data to promote variant curation and research. One of the most popular new features of BRCA Exchange are “provisional ACMG evidence code assignments” for all observed variants, in the population frequency evidence category. Within the ClinGen framework, genes including BRCA1 and BRCA2 are under the purview of Variant Curation Expert Panels (VCEPs), which specify the definitive set of expert rules for the classification of the genes under their purview. With these rules, the gene/disease experts in the VCEP refine the general ACMG/AMP variant interpretation standards and guidelines to create a set of rules which are more specific and applicable to the genes and diseases that are within their scope. BRCA1 and BRCA2 are under the purview of the ClinGen ENIGMA VCEP. The variant classification rules of this VCEP are more complex than the general ACMG/AMP guidelines, and while they promote greater rigor in BRCA variant classification, they can be challenging for biocurators to apply manually. In response, we have begun assessing the rules computationally, and sharing the computationally-derived evidence code assignments on BRCA Exchange. These assignments are “provisional” because they have not yet been vetted by the VCEP biocurator team, yet are sufficient for most variant classification. Within the next year, we will expand our suite of provisional ACMG evidence code assgnments, with the goal to provide them for all forms of non-clinical evidence. In addition, we will share new variant annotation data, as selected by the ClinGen VCEP.
3. Expand the scope of BRCA Exchange to cover more cancer susceptibility genes. The first gene which we will add to BRCA Exchange is PALB2, which we anticipate rolling out this fall. Subsequently, we will add 1-2 genes per year, following the recommendations of the ENIGMA and HBOP VCEPs and the BRCA Exchange steering committee.
If you are interested in learning more about the changes planned for BRCA Exchange, we invite you to subscribe to BRCA Exchange News.
