• CD36 - a plausible modifier of disease phenotype in familial adenomatous polyposis 

      Holmes, Merran; Connor, Toni; Oldmeadow, Christopher; Pockney, Peter; Scott, Rodney J.; Talseth-Palmer, Bente Anita (Journal article; Peer reviewed, 2018)
      Background: Familial adenomatous polyposis (FAP) is a well characterised genetic predisposition to early onset colorectal cancer (CRC) that is characterised by polyposis of the colon and rectum. Animal models have consistently ...
    • 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 ...
    • 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 ...