I am a Consultant in Clinical Genetics at Karolinska University Hospital and Senior Researcher at MMK, Clinical Genetics group. At the clinic, I meet patients with hereditary syndromes/cancer and at our clinical laboratory I analyse constitutional mutations as well as somatic genetic alterations in haematological malignancies.
(1) Hereditary Cancer – genetic cause of hereditary cancer, genetic risk factors and optimal surveillance in rare cancer syndromes (including SWEP53 - a study of modifying factors and optimized surveillance for carriers of germline TP53 mutations.
(2) Cell-free tumour DNA (liquid biopsy) in diagnosis, prognosis and follow-up in adult and paediatric cancer patients
(3) Hereditary syndromes – genetic cause and genotype-phenotype correlations