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Page 1
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: huneburg r. 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.
Prophylactic total gastrectomy in the management of hereditary tumor syndromes.
Pantelis D, Hüneburg R, Adam R, Holzapfel S, Gevensleben H, Nattermann J, Strassburg CP, Aretz S, Kalff JC. Pantelis D, et al. Among authors: huneburg r. Int J Colorectal Dis. 2016 Dec;31(12):1825-1833. doi: 10.1007/s00384-016-2656-9. Epub 2016 Sep 28. Int J Colorectal Dis. 2016. PMID: 27682646
No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies.
Engel C, Vasen HF, Seppälä T, Aretz S, Bigirwamungu-Bargeman M, de Boer SY, Bucksch K, Büttner R, Holinski-Feder E, Holzapfel S, Hüneburg R, Jacobs MAJM, Järvinen H, Kloor M, von Knebel Doeberitz M, Koornstra JJ, van Kouwen M, Langers AM, van de Meeberg PC, Morak M, Möslein G, Nagengast FM, Pylvänäinen K, Rahner N, Renkonen-Sinisalo L, Sanduleanu S, Schackert HK, Schmiegel W, Schulmann K, Steinke-Lange V, Strassburg CP, Vecht J, Verhulst ML, de Vos Tot Nederveen Cappel W, Zachariae S, Mecklin JP, Loeffler M; German HNPCC Consortium, the Dutch Lynch Syndrome Collaborative Group, and the Finnish Lynch Syndrome Registry. Engel C, et al. Among authors: huneburg r. Gastroenterology. 2018 Nov;155(5):1400-1409.e2. doi: 10.1053/j.gastro.2018.07.030. Epub 2018 Jul 29. Gastroenterology. 2018. PMID: 30063918
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: huneburg r. 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.
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: huneburg r. 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.
[Current recommendations for surveillance, risk reduction and therapy in Lynch syndrome patients].
Hüneburg R, Aretz S, Büttner R, Daum S, Engel C, Fechner G, Habermann JK, Heling D, Hoffmann K, Holinski-Feder E, Kloor M, von Knebel-Döberitz M, Loeffler M, Möslein G, Perne C, Redler S, Rieß O, Schmiegel W, Seufferlein T, Siebers-Renelt U, Steinke-Lange V, Tecklenburg J, Vangala D, Vilz T, Weitz J, Wiedenmann B, Strassburg CP, Nattermann J. Hüneburg R, et al. Z Gastroenterol. 2019 Nov;57(11):1309-1320. doi: 10.1055/a-1008-9827. Epub 2019 Nov 18. Z Gastroenterol. 2019. PMID: 31739377 German.
Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome.
Engel C, Ahadova A, Seppälä TT, Aretz S, Bigirwamungu-Bargeman M, Bläker H, Bucksch K, Büttner R, de Vos Tot Nederveen Cappel WT, Endris V, Holinski-Feder E, Holzapfel S, Hüneburg R, Jacobs MAJM, Koornstra JJ, Langers AM, Lepistö A, Morak M, Möslein G, Peltomäki P, Pylvänäinen K, Rahner N, Renkonen-Sinisalo L, Schulmann K, Steinke-Lange V, Stenzinger A, Strassburg CP, van de Meeberg PC, van Kouwen M, van Leerdam M, Vangala DB, Vecht J, Verhulst ML, von Knebel Doeberitz M, Weitz J, Zachariae S, Loeffler M, Mecklin JP, Kloor M, Vasen HF; German HNPCC Consortium, the Dutch Lynch Syndrome Collaborative Group; Finnish Lynch Syndrome Registry. Engel C, et al. Among authors: huneburg r. Gastroenterology. 2020 Apr;158(5):1326-1333. doi: 10.1053/j.gastro.2019.12.032. Epub 2020 Jan 8. Gastroenterology. 2020. PMID: 31926173
Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers.
Blatter R, Tschupp B, Aretz S, Bernstein I, Colas C, Evans DG, Genuardi M, Hes FJ, Hüneburg R, Järvinen H, Lalloo F, Moeslein G, Renkonen-Sinisalo L, Resta N, Spier I, Varvara D, Vasen H, Latchford AR, Heinimann K. Blatter R, et al. Among authors: huneburg r. Genet Med. 2020 Sep;22(9):1524-1532. doi: 10.1038/s41436-020-0826-1. Epub 2020 May 13. Genet Med. 2020. PMID: 32398773 Free PMC article.
53 results