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) ...
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 ...