English
norskWhat are the molecular consequences of germline mutations in breast and ovarian cancer susceptibility genes in a Norwegian breast and ovarian cancer population?
Permanent link
https://hdl.handle.net/10037/12811
Date
2018-06-01Type
Doctoral thesisDoktorgradsavhandling
Abstract
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.
Description
The papers II and III are not available in Munin.
Paper I: Jarhelle, E., Stensland, H. M. F. R., Mæhle, L. & Van Ghelue, M. (2017). Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort. Available in Familial Cancer, 16(1): p. 1-16. Manuscript version available in Munin at http://hdl.handle.net/10037/10579 .
Paper II: Jarhelle, E., Stensland, H. M. F. R. & Van Ghelue, M. Comparing the quality of RNA preserved in PAXgene and Tempus Blood RNA tubes using BRCA1 splicing events as a model system. (Manuscript).
Paper III: Jarhelle, E., Stensland, H. M.F. R., Hansen, G. Å. M., Skarsfjord, S., Jonsrud, C., Ingebrigtsen, M., Strømsvik, N. & Van Ghelue, M. Identifying sequence variants contributing to hereditary breast/ovarian cancer in BRCA1/2 negative breast and ovarian cancer patients. (Manuscript).
Paper I: Jarhelle, E., Stensland, H. M. F. R., Mæhle, L. & Van Ghelue, M. (2017). Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort. Available in Familial Cancer, 16(1): p. 1-16. Manuscript version available in Munin at http://hdl.handle.net/10037/10579 .
Paper II: Jarhelle, E., Stensland, H. M. F. R. & Van Ghelue, M. Comparing the quality of RNA preserved in PAXgene and Tempus Blood RNA tubes using BRCA1 splicing events as a model system. (Manuscript).
Paper III: Jarhelle, E., Stensland, H. M.F. R., Hansen, G. Å. M., Skarsfjord, S., Jonsrud, C., Ingebrigtsen, M., Strømsvik, N. & Van Ghelue, M. Identifying sequence variants contributing to hereditary breast/ovarian cancer in BRCA1/2 negative breast and ovarian cancer patients. (Manuscript).
Publisher
UiT The Arctic University of NorwayUiT Norges arktiske universitet
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