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Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk.
Rocque MJ, Leipart V, Kumar Singh A, Mur P, Olsen MF, Engebretsen LF, Martin-Ramos E, Aligué R, Sætrom P, Valle L, Drabløs F, Otterlei M, Sjursen W. Rocque MJ, et al. Among authors: sjursen w. Mol Genet Genomics. 2023 May;298(3):555-566. doi: 10.1007/s00438-023-02000-w. Epub 2023 Mar 1. Mol Genet Genomics. 2023. PMID: 36856825 Free PMC article.
Mutation screening in a Norwegian cohort with pheochromocytoma.
Sjursen W, Halvorsen H, Hofsli E, Bachke S, Berge A, Engebretsen LF, Falkmer SE, Falkmer UG, Varhaug JE. Sjursen W, et al. Fam Cancer. 2013 Sep;12(3):529-35. doi: 10.1007/s10689-013-9608-0. Fam Cancer. 2013. PMID: 23407919
Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.
Grolleman JE, de Voer RM, Elsayed FA, Nielsen M, Weren RDA, Palles C, Ligtenberg MJL, Vos JR, Ten Broeke SW, de Miranda NFCC, Kuiper RA, Kamping EJ, Jansen EAM, Vink-Börger ME, Popp I, Lang A, Spier I, Hüneburg R, James PA, Li N, Staninova M, Lindsay H, Cockburn D, Spasic-Boskovic O, Clendenning M, Sweet K, Capellá G, Sjursen W, Høberg-Vetti H, Jongmans MC, Neveling K, Geurts van Kessel A, Morreau H, Hes FJ, Sijmons RH, Schackert HK, Ruiz-Ponte C, Dymerska D, Lubinski J, Rivera B, Foulkes WD, Tomlinson IP, Valle L, Buchanan DD, Kenwrick S, Adlard J, Dimovski AJ, Campbell IG, Aretz S, Schindler D, van Wezel T, Hoogerbrugge N, Kuiper RP. Grolleman JE, et al. Among authors: sjursen w. Cancer Cell. 2019 Feb 11;35(2):256-266.e5. doi: 10.1016/j.ccell.2018.12.011. Cancer Cell. 2019. PMID: 30753826 Free article.
Update on genetic predisposition to colorectal cancer and polyposis.
Valle L, de Voer RM, Goldberg Y, Sjursen W, Försti A, Ruiz-Ponte C, Caldés T, Garré P, Olsen MF, Nordling M, Castellvi-Bel S, Hemminki K. Valle L, et al. Among authors: sjursen w. Mol Aspects Med. 2019 Oct;69:10-26. doi: 10.1016/j.mam.2019.03.001. Epub 2019 Mar 18. Mol Aspects Med. 2019. PMID: 30862463 Free article. Review.
39 results