Team Helsinki

Central Finland Hospital District and Helsinki University Hospital District run the Lynch Syndrome registry of Finland. Helsinki forms the largest center in Finland responsible for identification and management of Lynch syndrome patients. Hereditary gastrointestinal syndromes have been centralized to university hospital level endoscopy units throughout the country, and are maintained by publicly funded. There is regular interaction with clinical service providers and the clinical genetics units. Laboratory research takes place in Biomedicum Helsinki and the molecular pathology unit, Jyväskylä.

Mev Dominguez-Valentin, Emma J. Crosbie, Christoph Engel, Stefan Aretz, Finlay Macrae, Ingrid Winship, Gabriel Capella, Huw Thomas, Sigve Nakken, Eivind Hovig, Maartje Nielsen, Rolf H Sijmons, Lucio Bertario, Bernardo Bonanni, Maria Grazia Tibiletti, Giulia Martina Cavestro, Miriam Mints, Nathan Gluck, Lior Katz, Karl Heinimann, Carlos A. Vaccaro, Kate Green, Fiona Lalloo, James Hill, Wolff Schmiegel, Deepak Vangala, Claudia Perne, Hans-Georg Strauß, Johanna Tecklenbur, Elke Holinski-Feder, Verena Steinke-Lange, Jukka-Pekka Mecklin, John-Paul Plazzer, Marta Pineda, Matilde Navarro, Joan Brunet Vida, Revital Kariv, Guy Rosner, Tamara Alejandra Piñero, María Laura Gonzalez, Pablo Kalfayan, Neil Ryan, Sanne W. ten Broeke, Mark A. Jenkins, Lone Sunde, Inge Bernstein, John Burn, Marc Greenblatt, Wouter H. de Vos tot Nederveen Cappel, Adriana Della Valle, Francisco Lopez-Koestner, Karin Alvarez, Reinhard Büttner, Heike Görgens, Monika Morak, Stefanie Holzapfe, Robert Hüneburg, Magnus von Knebel Doeberitz, Markus Loeffler, Nils Rahner, Jürgen Weitz, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepistö, Annika Auranen, John L. Hopper, Aung Ko Win, Robert W. Haile, Noralane M. Lindor, Steven Gallinger, Loïc Le Marchand, Polly A. Newcomb, Jane C. Figueiredo, Stephen N. Thibodeau, Christina Therkildsen, Henrik Okkels, Zohreh Ketabi, Oliver G. Denton, Einar Andreas Rødland, Hans Vasen, Florencia Neffa, Patricia Esperon, Douglas Tjandra, Gabriela Möslein, Julian R. Sampson, D. Gareth Evans, Toni T. Seppälä, Pål Møller. Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female carriers of pathogenic mismatch repair variants: A Prospective Lynch Syndrome Database report. Genet Med. 2020. IN PRESS.

Wirta EV, Szeto S, Hänninen U, Ahtiainen M, Böhm J, Mecklin JP, Aaltonen LA, Seppälä TT. Prognostic value of immune environment analysis in small bowel adenocarcinomas with verified mutational landscape and predisposing conditions. Cancers. 2020 Jul 23;12(8):E2018. doi: 10.3390/cancers12082018.

Ballhausen A, Przybilla MJ, Jendrusch J, Haupt S, Pfaffendorf E, Seidler F, Witt J, Hernandez Sanchez A, Unrban K, Draxlbauer M, Krausert S, Ahadova A, Kalteis MS, Pfudere 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. The shared frameshift mutation landscape of microsatellite-unstable cancers suggests immunoediting during tumor evolution. Nat Comm. 2020. Sep 21;11(1):4740. doi: 10.1038/s41467-020-18514-5.

Dominguez-Valentin M, Moller P, Sampson JR, Seppälä TT. Analysis in the Prospective Lynch Syndrome Database reveals sarcoma as part of the Lynch Syndrome tumor spectrum. Int J Cancer. 2020 Jul 24. doi: 10.1002/ijc.33214.

Dominguez-Valentin M, Seppälä TT, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro C, Green K, Lalloo F, Hill J, Canbay A, Vangala D, Perne P, Strauß HG, Tecklenburg J, Holinski-Feder E, Steinke-Lange V, Mecklin JP, Plazzer JP, Pineda M, Navarro M, Brunet J, Kariv R, Rosner G, Piñero TA, Gonzalez ML, Kalfayan P, Sampson JR, Ryan NAJ, Evans DGR, Moller P, Crosbie EJ. Risk-reducing gynaecological surgery in Lynch syndrome: results of an international survey from the Prospective Lynch Syndrome Database. J Clin Med. 2020 Jul 18;9(7):E2290. doi: 10.3390/jcm9072290.

Ahadova A., Seppälä TT, Engel C, Gallon R, Burn J, Holinski-Feder E, Steinke-Lange V, Möslein G, Nielsen M, ten Broeke S, Laghi L, Dominguez-Valentin M, Capella G, Macrae F, Hüneburg R, Nattermann R, Hoffmeister M, Brenner H, Bläker H, von Knebel Doeberitz M, Sampson JR, Vasen H, Mecklin JP, Møller P, Kloor M. The “unnatural” history of colorectal cancer in Lynch syndrome: lessons from colonoscopy surveillance. Int J Cancer. 2020 Jul 19. doi: 10.1002/ijc.33224.

Seppälä TT, Latchford A, Negoi I, Sampaio Soares A, Jimenez Rodriguez R, Sanches-Guillen L, Evans GD, Ryan NAJ, Crosbie EJ, Dominguez-Valentin M, Burn J, Kloor M, von Knebel Doeberitz M, van Duijnhoven FJB, Quirke P, Sampson JR, Moller P, Moeslein G. European Guidance from EHTG and ESCP for Lynch syndrome: an updated third edition of the “Mallorca Guidelines” based on Gene and Gender. Br J Surg. 2020. Sep 21. doi: 10.1002/bjs.11902.

Burn J, Harsh S, Elliott F, Reed L, Macrae F, Mecklin J, Möslein G, Mcronald F, Bertario L, Evans DG, Gerdes AM, Ho, JWC, Lindblom A, Morrison PJ, Rashbass J, Ramesar R, Seppälä TT, Thomas HJW, Pylvänäinen K, Borthwick GM, Mathers JC, Bishop DT. Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial. Lancet. 2020 Jun;395:1855-1863

Seppälä TT, Dominguez-Valentin M, Sampson, J, Møller P. Prospective observational data informs understanding and future management of Lynch syndrome: insights from the Prospective Lynch Syndrome Database (PLSD). Fam Cancer. 2020. Jun 8. doi: 10.1007/s10689-020-00193-2. [Epub ahead of print].

Kalamo MH, Mäenpää JU, Seppälä TT, Mecklin JP, Huhtala H, Sorvettula K, Pylvänäinen K, Staff S. Factors associated with decision-making on prophylactic hysterectomy and attitudes towards gynecological surveillance among women with Lynch syndrome (LS): A descriptive study. Fam Cancer. 2020 Apr;19(2):177-182. doi: 10.1007/s10689-020-00158-5.

Engel C*, Ahadova A*, Seppälä T*, Aretz S, Bigirwamungu-Bargeman M, Bläker H, Bucksch K, Büttner R, de Vos Tot Nederveen Cappel W, 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# 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. Gastroenterology. 2020 Apr;158(5):1326-1333. doi: 10.1053/j.gastro.2019.12.032