Browsing NTNU Open by Author "Xavier, Alexandre"
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Comprehensive mismatch repair gene panel identifies variants in patients with Lynch-like syndrome
Xavier, Alexandre; Olsen, Maren Fridtjofsen; Lavik, Liss Ane; Johansen, Jostein; Singh, Ashish Kumar; Sjursen, Wenche; Scott, Rodney J.; Talseth-Palmer, Bente Anita (Journal article; Peer reviewed, 2019)AbstractBackground: Lynch‐like syndrome (LLS) represents around 50% of the patients fulfilling the Amsterdam Criteria II/revised Bethesda Guidelines, characterized by a strong family history of Lynch Syndrome (LS) ... -
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 ... -
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 ...