Blar i St. Olavs hospital på tidsskrift "Molecular Genetics & Genomic Medicine"

Viser treff 1-3 av 3

    • A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes 

      Hansen, Maren Fridtjofsen; Neckmann, Ulrike; Lavik, Liss Anne; Vold, Trine; Gilde, Bodil; Toft, Ragnhild Karlgård; Sjursen, Wenche (Journal article; Peer reviewed, 2014)
      The purpose of this study was to develop a massive parallel sequencing (MPS) workflow for diagnostic analysis of mismatch repair (MMR) genes using the GS Junior system (Roche). A pathogenic variant in one of four MMR genes, ...

    • 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) ...

    • 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 ...