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The shared frameshift mutation landscape of microsatellite-unstable cancers suggests immunoediting during tumor evolution.
Ballhausen A, Przybilla MJ, Jendrusch M, Haupt S, Pfaffendorf E, Seidler F, Witt J, Hernandez Sanchez A, Urban K, Draxlbauer M, Krausert S, Ahadova A, Kalteis MS, Pfuderer PL, Heid D, Stichel D, Gebert J, Bonsack M, Schott S, Bläker H, Seppälä T, Mecklin JP, Ten Broeke S, Nielsen M, Heuveline V, Krzykalla J, Benner A, Riemer AB, von Knebel Doeberitz M, Kloor M. Ballhausen A, et al. Among authors: nielsen m. Nat Commun. 2020 Sep 21;11(1):4740. doi: 10.1038/s41467-020-18514-5. Nat Commun. 2020. PMID: 32958755 Free PMC article.
A PMS2-specific colorectal surveillance guideline.
ten Broeke SW, Nielsen M. ten Broeke SW, et al. Among authors: nielsen m. Genet Med. 2015 Aug;17(8):684. doi: 10.1038/gim.2015.91. Genet Med. 2015. PMID: 26240978 Free article. No abstract available.
ClinGen and Genetic Testing.
Nielsen M, ten Broeke S, Sijmons R. Nielsen M, et al. N Engl J Med. 2015 Oct;373(14):1377. doi: 10.1056/NEJMc1508700. N Engl J Med. 2015. PMID: 26422739 No abstract available.
The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect.
Ten Broeke SW, Rodríguez-Girondo M, Suerink M, Aretz S, Bernstein I, Capellá G, Engel C, Gomez-Garcia EB, van Hest LP, von Knebel Doeberitz M, Lagerstedt-Robinson K, Letteboer TGW, Moller P, van Os TA, Pineda M, Rahner N, Olderode-Berends MJW, von Salomé J, Schackert HK, Spruijt L, Steinke-Lange V, Wagner A, Tops CMJ, Nielsen M. Ten Broeke SW, et al. Among authors: nielsen m. Cancer Epidemiol Biomarkers Prev. 2019 Jun;28(6):1010-1014. doi: 10.1158/1055-9965.EPI-18-0576. Epub 2019 Mar 1. Cancer Epidemiol Biomarkers Prev. 2019. PMID: 30824524
Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.
Seppälä TT, Ahadova A, Dominguez-Valentin M, Macrae F, Evans DG, Therkildsen C, Sampson J, Scott R, Burn J, Möslein G, Bernstein I, Holinski-Feder E, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Lautrup CK, Lindblom A, Plazzer JP, Winship I, Tjandra D, Katz LH, Aretz S, Hüneburg R, Holzapfel S, Heinimann K, Valle AD, Neffa F, Gluck N, de Vos Tot Nederveen Cappel WH, Vasen H, Morak M, Steinke-Lange V, Engel C, Rahner N, Schmiegel W, Vangala D, Thomas H, Green K, Lalloo F, Crosbie EJ, Hill J, Capella G, Pineda M, Navarro M, Blanco I, Ten Broeke S, Nielsen M, Ljungmann K, Nakken S, Lindor N, Frayling I, Hovig E, Sunde L, Kloor M, Mecklin JP, Kalager M, Møller P. Seppälä TT, et al. Among authors: nielsen m. Hered Cancer Clin Pract. 2019 Feb 28;17:8. doi: 10.1186/s13053-019-0106-8. eCollection 2019. Hered Cancer Clin Pract. 2019. PMID: 30858900 Free PMC article.
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Dominguez-Valentin M, Sampson JR, Seppälä TT, Ten Broeke SW, Plazzer JP, Nakken S, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de Vos Tot Nederveen Cappel WH, Sijmons RH, Bertario L, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A, Lopez-Köstner F, Gluck N, Katz LH, Heinimann K, Vaccaro CA, Büttner R, Görgens H, Holinski-Feder E, Morak M, Holzapfel S, Hüneburg R, Knebel Doeberitz MV, Loeffler M, Rahner N, Schackert HK, Steinke-Lange V, Schmiegel W, Vangala D, Pylvänäinen K, Renkonen-Sinisalo L, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Wadt K, Therkildsen C, Okkels H, Ketabi Z, Moreira L, Sánchez A, Serra-Burriel M, Pineda M, Navarro M, Blanco I, Green K, Lalloo F, Crosbie EJ, Hill J, Denton OG, Frayling IM, Rødland EA, Vasen H, Mints M, Neffa F, Esperon P, Alvarez K, Kariv R, Rosner G, Pinero TA, Gonzalez ML, Kalfayan P, Tjandra D, Winship IM, Macrae F, Möslein G, Mecklin JP, Nielsen M, Møller P. Dominguez-Valentin M, et al. Among authors: nielsen m. Genet Med. 2020 Jan;22(1):15-25. doi: 10.1038/s41436-019-0596-9. Epub 2019 Jul 24. Genet Med. 2020. PMID: 31337882 Free PMC article.
4,504 results