Veronica Höiom

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.