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HerediVar

The assessment of personalized risk, as well as risk-adapted prevention of disease and development of targeted therapies in case of hereditary breast and ovarian cancer rely on unambiguous classification of genetic variants for each individual patient.  

However, a high prevalence of variants of uncertain (or unknown) significance (VUS) detected in next-generation sequencing (NGS) gene panel germline diagnostics in these two cancer types present a major challenge. The three-year HerediVar project aims at integrating bioinformatics and functional genomics in the clinical classification of genetic variation in hereditary breast and ovarian cancer. HerediVar will build upon prior work done at the University of Leipzig to establish a central family database and set up a state-of-the-art interactive variant database (HerediVar) that enables the automatic integration of publicly available information for the classification of variants and will run and further develop as well as optimize in silico prediction algorithms to integrate existing data from the central database while taking into account the applicable data protection regulations.  

The project will follow a multi-disciplinary approach by including experts in the fields of cancer genetics, DNA repair, human genetics, bioinformatics and epidemiology. Since insufficient data for classification of VUS exists, the HerediVar team will also develop functional assays and conduct experimental investigations of VUS for which insufficient data for classification are available. 

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