• 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 ...