I have a PhD (faculty of medicine) in Medical Genetics and are working as a Research Scientist at the Dept. of Oncology & Pathology, Karolinska Institutet, and as a Genetic Counselor at the Hereditary Cancer Unit, Karolinska University Hospital.
My research focus is to reveal genetic mechanisms behind melanoma susceptibility and response to novel treatments.
One research project aiming at discovering novel melanoma susceptibility genes by next-generation sequencing of melanoma-prone families. Approximately, 5- 10 % of all melanoma patients belong to a family with an inherited predisposition for melanoma (and in some cases also other malignancies). The most common high-penetrance gene for melanoma is the tumor suppressor gene, CDKN2A. In Sweden, less than 10% of the melanoma families carries a pathogenic variant in the CDKN2A gene. We have also a few families with a pathogenic variant in another tumor suppressor gene, BAP1. Pathogenic variants in BAP1 is correlated to uveal melanoma, skin melanoma, mesothelioma and renal cell carcinoma. Knowledge about the genetic background is important for identifying high-risk individuals and facilitates primary and secondary prevention of melanoma. By exome sequencing of melanoma families without a mutation in a known melanoma gene, we are now in the process of new gene discovery by further genetic analyses and functional investigations of candidate genes.
The development of targeted therapies and immune checkpoint inhibitors have substantially improved the outcome for patients with metastatic melanoma. However, not all patients benefit from these therapies or do it only for a limited period of time. The identification of biomarkers that predicts the treatment response are important to improve and also personalize the treatment options for melanoma patients. We are interested in understanding how inherited genetic variation can affect/predict clinical outcome by correlating host genotypes to response and survival of patients with advanced melanoma, treated with immunotherapy and/or targeted therapy.