Breast cancer is the most common malignancy in women. It is strongly influenced by hereditary risk factors, a majority of which still remains unknown. The aim of current project is to identify novel breast cancer predisposing gene defects, resolve the related disease predisposing mechanisms and if these can be targeted by drugs, and ultimately, to improve diagnostics and genetic counseling. The used approach is multidisciplinary: several next-generation sequencing based genomics and transcriptomics approaches are combined with gene editing, sophisticated biochemical assays and drug testing. Resolving the genetic susceptibility to breast cancer will improve disease risk modeling and facilitates personalized cancer screening and prevention. Improved knowledge on cancer predisposition genes and characterization of their normal and mutated versions in both normal tissues and in progression towards malignancy is expected to significantly improve cancer treatment.

2017

2022