Browsing NTNU Open by Author "McPhillips, Mary"
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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 ...