As part of the international BRCA Challenge project, we brought together information about a large number of variants in the BRCA1 and BRCA2 genes. While some of them indicate that a woman has the general low risk of developing breast cancer, other variants are linked to a significantly increased risk of cancer.
Our first achievement was to gather information from various locally, independently and heterogeneously organized databases into one platform. Now, all the combined information is anonymised and easy to access on the BRCA Exchange web platform. The platform holds data on more than 21,000 genetic variants, and for more than 7,250 of them, we have verified information as to their clinical relevance – whether they are indicative of cancer or not. Another achievement is the development of algorithms and workflows to automate the classification of variants.
Furthermore, we developed a smartphone app at ETH Zurich that gives users straightforward access to the data. This is particularly useful for physicians and medical geneticists. It lets them look up whether a patient’s genetic variant is already documented and perhaps even classified as pathogenic or benign. Users of the app can also subscribe to a service that will notify them when new information on a particular variant becomes available.
- The paper: PLOS genetics
- The BRCA Exchange Platform
- Video: BRCA Exchange Overview by University of California Santa Cruz