Blar i NTNU Open på forfatter "Sjursen, Wenche"
-
Optimalisering av RNA-analyser; utprøving av Epstein-Barr virus-transformerte lymfoblastoide cellelinjer som kontrollmateriale
Brændvik, Sofie Emilie; Grønli, Elisabeth (Bachelor thesis, 2022)Avdeling for medisinsk genetikk (AMG) på St. Olavs Hospital har behov for nytt kontrollmateriale til analyser av RNA. Gentesting kan utføres på RNA-nivå som et supplement til gentesting på DNA-nivå. Dette utføres som regel ... -
Optimalisering av sangersekvensering av BRCA1- og BRCA2-genene
Johnsen, Torill; Haugen, Larina (Bachelor thesis, 2023)I denne bacheloroppgaven er hensikten å optimalisere primere for sangersekvensering av BRCA1 og BRCA2. Dette gjelder for de primerne som ikke følger standard betingelser for rutinen ved Avdeling for medisinsk genetikk ... -
The prognostic value of methylation signatures and NF2 mutations in atypical meningiomas
Meta, Rahmina; Boldt, Henning B.; Kristensen, Bjarne W.; Sahm, Felix; Sjursen, Wenche; Torp, Sverre Helge (Peer reviewed; Journal article, 2021)Background: Due to the solely subjective histopathological assessment, the WHO 2016 classification of human meningiomas is subject to interobserver variation. Consequently, the need for more reliable and objective markers ... -
Small RNA expression from viruses, bacteria and human miRNAs in colon cancer tissue and its association with microsatellite instability and tumor location
Mjelle, Robin; Sjursen, Wenche; Thommesen, Liv; Sætrom, Pål; Hofsli, Eva (Journal article; Peer reviewed, 2019)Background MicroRNAs (miRNA) and other small RNAs are frequently dysregulated in cancer and are promising biomarkers for colon cancer. Here we profile human, virus and bacteria small RNAs in normal and tumor tissue from ... -
sMETASeq: combined profiling of microbiota and host small RNAs
Mjelle, Robin; Aass, Kristin Roseth; Sjursen, Wenche; Hofsli, Eva; Sætrom, Pål (Peer reviewed; Journal article, 2020)Understanding microbial communities' roles in human health and disease requires methods that accurately characterize the microbial composition and their activity and effects within human biological samples. We present ... -
Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families
Talseth-Palmer, Bente; Bauer, Denis; Sjursen, Wenche; Evans, Tiffany-Jane; McPhillips, Mary; Proietto, Anthony; Otten, Geoffrey; Spigelman, Allan D.; Scott, Rodney J. (Peer reviewed; Journal article, 2016)Causative germline mutations in mismatch repair (MMR ) genes can only be identified in ~50% of families with a clinical diagnosis of the inherited colorectal cancer (CRC ) syndrome hereditary nonpolyposis colorectal cancer ... -
Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer
Singh, Ashish Kumar; McPhillips, Mary; Talseth-Palmer, Bente; Lavik, Liss Ane; Xavier, Alexandre; Drabløs, Finn; Sjursen, Wenche (Peer reviewed; Journal article, 2020)Germline variants inactivating the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 cause Lynch syndrome that implies an increased cancer risk, where colon and endometrial cancer are the most frequent. Identification ... -
The Norwegian PMS2 founder mutation c.989-1G>T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry
Grindedal, Eli Marie; Aarset, Harald; Bjørnevoll, Inga; Røyset, Elin Synnøve; Mæhle, Lovise Olaug; Stormorken, Astrid T.; Heramb, Cecilie; Medvik, Heidi; Møller, Pål; Sjursen, Wenche (Journal article; Peer reviewed, 2014)Background Using immunohistochemistry (IHC) to select cases for mismatch repair (MMR) genetic testing, we failed to identify a large kindred with the deleterious PMS2 mutation c.989-1G > T. The purpose of the study was ... -
Update on genetic predisposition to colorectal cancer and polyposis
Valle, Laura; de Voer, Richarda M.; Goldberg, Yael; Sjursen, Wenche; Försti, Asta; Ruiz-Ponte, Clara; Caldés, Trinidad; Garré, Pilar; Olsen, Maren Fridtjofsen; Nordling, Margareta; Castellví-Bel, Sergi; Hemminki, Kari (Journal article; Peer reviewed, 2019)The present article summarizes recent developments in the characterization of genetic predisposition to colorectal cancer (CRC). The main themes covered include new hereditary CRC and polyposis syndromes, non-CRC hereditary ... -
Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome
Hansen, Maren; Johansen, Jostein; Sylvander, Anna Elisabeth; Bjørnevoll, Inga; Talseth-Palmer, Bente Anita; Lavik, Liss Ane; Xavier, Alexandre; Engebretsen, Lars Fredri; Scott, Rodney; Drabløs, Finn Sverre; Sjursen, Wenche (Journal article; Peer reviewed, 2017)Background Many families with a high burden of colorectal cancer fulfil the clinical criteria for Lynch Syndrome. However, in about half of these families, no germline mutation in the mismatch repair genes known to be ... -
Use of new sequencing technology to improve clinical diagnostics of hereditary colorectal cancer
Olsen, Maren Fridtjofsen (Doctoral theses at NTNU;2018:94, Doctoral thesis, 2018)Backgroud: Identification of a germline pathogenic variant that causes increased risk and aggregation of CRC in a family is important for the clinical management of the family members. Next generation sequencing technology ...