As a senior scientist I am involved in routine diagnostics and scientific research. Diagnostics-related part of my work involves the detection of germline tumor susceptibility variants in patients with characteristic clinical syndromes, mainly focusing on breast cancer and colorectal cancer cases, but also including rare cancer syndromes, i. e. endocrine and multiplex tumors.
My research activities aim at functional evaluation of germline variants with clinically uncertain significance. This involves comprehensive interpretation of multi-layer evidence harnessing in silico predictions, transcript-level studies as well as tumor DNA analysis and family characteristics. Besides translational research, my interest extends to basic knowledge, such as alternative and aberrant splicing patterns and regulations, as well as the extent and conditions of nonsense-mediated decay.