Blar i NTNU Open på tidsskrift "Hereditary Cancer in Clinical Practice"

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    • 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 ...

    • Intensive breast screening in BRCA2 mutation carriers is associated with reduced breast cancer specific and all cause mortality 

      Evans, Dafydd Gareth; Harkness, Elaine F.; Howell, Anthony; Wilson, Mary; Hurley, Emma; Holmen, Marit Muri; Tharmaratnam, Kukatharmini; Hagen, Anne Irene; Lim, Yit Yoong; Maxwell, Anthony James; Møller, Pål (Peer reviewed; Journal article, 2016)
      Background The addition of annual MRI screening to mammography has heightened optimism that intensive screening along with improved treatments may substantially improve life expectancy of women at high risk of breast ...

    • Prevalence of the CHEK2 R95* germline mutation 

      Knappskog, Stian; Leirvaag, Beryl; Gansmo, Liv Beathe; Romundstad, Pål Richard; Hveem, Kristian; Vatten, Lars Johan; Lønning, Per Eystein (Peer reviewed; Journal article, 2016)
      Background While germline CHEK2 mutations have been linked to a moderately elevated cancer risk, to date, a limited number of such mutations have been identified. Recently, we reported a germline nonsense mutation (C283T; ...

    • The genetic basis of colonic adenomatous polyposis syndromes 

      Talseth-Palmer, Bente (Journal article; Peer reviewed, 2017)
      Colorectal cancer (CRC) is one of the most common forms of cancer worldwide and familial adenomatous polyposis (FAP) accounts for approximately 1% of all CRCs. Adenomatous polyposis syndromes can be divided into; familial ...

    • The Norwegian PMS2 founder mutation c.989-1G>T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry 

      Grindedal, Eli Marie; Aarset, Harald; Bjørnevoll, Inga; Røyset, Elin Synnøve; Mæhle, Lovise Olaug; Stormorken, Astrid T.; Heramb, Cecilie; Medvik, Heidi; Møller, Pål; Sjursen, Wenche (Journal article; Peer reviewed, 2014)
      Background Using immunohistochemistry (IHC) to select cases for mismatch repair (MMR) genetic testing, we failed to identify a large kindred with the deleterious PMS2 mutation c.989-1G > T. The purpose of the study was ...