Veronica Höiom

Veronica Höiom

Senior Forskningsspecialist
E-postadress: veronica.hoiom@ki.se
Besöksadress: J6:30 BioClinicum, Akademiska stråket 1, 17164 Solna
Postadress: K7 Onkologi-Patologi, K7 Forskning Helgadottir, 171 77 Stockholm
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Om mig

  • 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.

Forskningsbeskrivning

  • 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.

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Forskningsbidrag

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