Browsing NTNU Open by Author "Talseth-Palmer, Bente"
Now showing items 1-6 of 6
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Enhancing Palliative Care in Primary Healthcare for Patients with Cancer: Integrating Advance Care Planning to Support Home-Based Care at the End-of-Life
Driller, Bardo (Doctoral theses at NTNU;2024:295, Doctoral thesis, 2024)According to the World Health Organization (WHO), cancer is a significant global health issue and one of the leading causes of death worldwide. An increasing number of cancer patients, live longer with modern oncology ... -
Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations
Sjursen, Wenche; McPhillips, Mary; Scott, Rodney J.; Talseth-Palmer, Bente (Peer reviewed; Journal article, 2016)Background Lynch syndrome, the most frequent hereditary colorectal cancer syndrome, is caused by defects in mismatch repair genes. Genetic testing is important in order to identify mutation carriers who can benefit from ... -
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 genetic basis of colonic adenomatous polyposis syndromes
Talseth-Palmer, Bente (Journal article; Peer reviewed, 2017)Colorectal cancer (CRC) is one of the most common forms of cancer worldwide and familial adenomatous polyposis (FAP) accounts for approximately 1% of all CRCs. Adenomatous polyposis syndromes can be divided into; familial ... -
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 ...