Master i biomedisin Elisabeth Jarhelle disputerer for ph.d.-graden i helsevitenskap og vil offentlig forsvare avhandlingen:
“What are the molecular consequences of germline mutations in breast and ovarian cancer susceptibility genes in a Norwegian breast and ovarian cancer population?”
Kort sammendrag av avhandlingen:
It is estimated that 5-10% of breast cancers (BC) and 25% of ovarian cancers (OC) are caused by inherited sequence variants in genes. In the mid 90’s, the two genes BRCA1 and BRCA2 were discovered to be directly associated with increased risk of BC and OC. Molecular screening of these two genes has revealed several disease causing variants as well as variants of unknown clinical significance (VUS). In this study, we investigated several BRCA1/2 VUSs for their impact on gene expression and protein product. Additionally, we investigated patients with BC and/or OC for disease causing variants in 92 additional genes. We identified five BRCA1/2 variants affecting the gene expression and/or protein product and further identified 13 patients with disease causing variants in other genes, demonstrating the need for broader genetic evaluation of patients with BC and OC.
(Avhandlingen er tilgjengelig for utlån hos Seksjon forutdanningstjenester frem til disputasdato)
Veiledere
Hovedveileder førsteamanuensis Marijke Van Ghelue, Institutt for klinisk medisin, UiT Norges arktiske universitet
Biveileder seniorforsker Hilde Monica Stensland, UNN-Tromsø
Bedømmelseskomiteen
1.opponent : Professor Kathleen B. Claes, Department of Pediatrics and medical genetics, Faculty of Medicine and Health Sciences, Gent, Belgium
2. opponent: Professor Åke Borg, BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation, Lund Universitet, Sverige
Leder av komiteen: Førsteamanuensis Gro Østli Eilertsen, Institutt for klinisk medisin, Det helsevitenskapelige fakultet, UiT – Norges arktiske universitet
Disputasleder
Professor Lars Marius Ytrebø, Institutt for klinisk medisin, Det helsevitenskapelige fakultet, UiT Norges arktiske universitet
Prøveforelesning over oppgitt emne holdes kl. 10.15, samme sted: “Immunotherapy, mechanisms of action and applicability of immune checkpoint inhibitors”