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The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry.
Grindedal EM, Aarset H, Bjørnevoll I, Røyset E, Mæhle L, Stormorken A, Heramb C, Medvik H, Møller P, Sjursen W. Grindedal EM, et al. Among authors: sjursen w. Hered Cancer Clin Pract. 2014 Apr 21;12(1):12. doi: 10.1186/1897-4287-12-12. eCollection 2014. Hered Cancer Clin Pract. 2014. PMID: 24790682 Free PMC article.
A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing.
Bjørnstad PM, Aaløkken R, Åsheim J, Sundaram AYM, Felde CN, Østby GH, Dalland M, Sjursen W, Carrizosa C, Vigeland MD, Sorte HS, Sheng Y, Ariansen SL, Grindedal EM, Gilfillan GD. Bjørnstad PM, et al. Among authors: sjursen w. Eur J Hum Genet. 2024 May;32(5):513-520. doi: 10.1038/s41431-023-01494-7. Epub 2023 Nov 29. Eur J Hum Genet. 2024. PMID: 38030917 Free PMC article.
Publisher Correction: A 39 kb structural variant causing Lynch syndrome detected by optical genome mapping and nanopore sequencing.
Bjørnstad PM, Aaløkken R, Åsheim J, Sundaram AYM, Felde CN, Østby GH, Dalland M, Sjursen W, Carrizosa C, Vigeland MD, Sorte HS, Sheng Y, Ariansen SL, Grindedal EM, Gilfillan GD. Bjørnstad PM, et al. Among authors: sjursen w. Eur J Hum Genet. 2024 May;32(5):601-602. doi: 10.1038/s41431-023-01519-1. Eur J Hum Genet. 2024. PMID: 38172175 Free PMC article. No abstract available.
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants.
Sjursen W, Hyldebrandt HK, Lavik LAS, Haukanes BI, Ariansen S, Briskemyr S, Sylvander AE, Haavind MT, Olsen MF, Røyset ES, Vetti H, Stormorken A, Grindedal EM. Sjursen W, et al. Hered Cancer Clin Pract. 2024 Sep 27;22(1):20. doi: 10.1186/s13053-024-00292-6. Hered Cancer Clin Pract. 2024. PMID: 39334433 Free PMC article.
40 results