The Management of Peutz–Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline

by Anja Wagner, Stefan Aretz, Annika Auranen, Marco J. Bruno, Giulia M. Cavestro, Emma J. Crosbie, Anne Goverde, Anne Marie Jelsig, Andrew R. Latchford, Monique E. van Leerdam, Anna H. Lepisto, Marta Puzzono, Ingrid Winship, Veronica Zuber, Gabriela Möslein
Published 2021-01-01

Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.

by Claudia Perne, Sophia Peters, Maria Cartolano, Sukanya Horpaopan, Christina Grimm, Janine Altmüller, Anna K Sommer, Axel M Hillmer, Holger Thiele, Margarete Odenthal, Gabriela Möslein, Ronja Adam, Sugirthan Sivalingam, Jutta Kirfel, Michal R Schweiger, Martin Peifer, Isabel Spier, Stefan Aretz
Published 2021-01-01

Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study

by Karolin Bucksch, Silke Zachariae, Stefan Aretz, Reinhard Büttner, Elke Holinski-Feder, Stefanie Holzapfel, Robert Hüneburg, Matthias Kloor, Magnus von Knebel Doeberitz, Monika Morak, Gabriela Möslein, Jacob Nattermann, Claudia Perne, Nils Rahner, Wolff Schmiegel, Karsten Schulmann, Verena Steinke-Lange, Christian P. Strassburg, Deepak B. Vangala, Jürgen Weitz, Markus Loeffler, Christoph Engel, on behalf of the German Consortium for Familial Intestinal Cancer
Published 2020-05-01

Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated “Big Bang” pathway to CRC in three of the four Lynch syndromes

by Pål Møller, Saskia Haupt, Aysel Ahadova, Matthias Kloor, Julian R. Sampson, Lone Sunde, Toni Seppälä, John Burn, Inge Bernstein, Gabriel Capella, D. Gareth Evans, Annika Lindblom, Ingrid Winship, Finlay Macrae, Lior Katz, Ido Laish, Elez Vainer, Kevin Monahan, Elizabeth Half, Karoline Horisberger, Leandro Apolinário da Silva, Vincent Heuveline, Christina Therkildsen, Charlotte Lautrup, Louise L Klarskov, Giulia Martina Cavestro, Gabriela Möslein, Eivind Hovig, Mev Dominguez-Valentin
Published 2024-05-01

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report

by Toni Seppälä, Kirsi Pylvänäinen, Dafydd Gareth Evans, Heikki Järvinen, Laura Renkonen-Sinisalo, Inge Bernstein, Elke Holinski-Feder, Paola Sala, Annika Lindblom, Finlay Macrae, Ignacio Blanco, Rolf Sijmons, Jacqueline Jeffries, Hans Vasen, John Burn, Sigve Nakken, Eivind Hovig, Einar Andreas Rødland, Kukatharmini Tharmaratnam, Wouter H. de Vos tot Nederveen Cappel, James Hill, Juul Wijnen, Mark Jenkins, Maurizio Genuardi, Kate Green, Fiona Lalloo, Lone Sunde, Miriam Mints, Lucio Bertario, Marta Pineda, Matilde Navarro, Monika Morak, Ian M. Frayling, John-Paul Plazzer, Julian R. Sampson, Gabriel Capella, Gabriela Möslein, Jukka-Pekka Mecklin, Pål Møller, in collaboration with The Mallorca Group
Published 2017-10-01

Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report

by Mev Dominguez-Valentin, Toni T. Seppälä, Julian R. Sampson, Finlay Macrae, Ingrid Winship, D. Gareth Evans, Rodney J. Scott, John Burn, Gabriela Möslein, Inge Bernstein, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepistö, Annika Lindblom, John-Paul Plazzer, Douglas Tjandra, Huw Thomas, Kate Green, Fiona Lalloo, Emma J. Crosbie, James Hill, Gabriel Capella, Marta Pineda, Matilde Navarro, Joan Brunet Vidal, Karina Rønlund, Randi Thyregaard Nielsen, Mette Yilmaz, Louise Laurberg Elvang, Lior Katz, Maartje Nielsen, Sanne W. ten Broeke, Sigve Nakken, Eivind Hovig, Lone Sunde, Matthias Kloor, Magnus v Knebel Doeberitz, Aysel Ahadova, Noralane Lindor, Verena Steinke-Lange, Elke Holinski-Feder, Jukka-Pekka Mecklin, Pål Møller
Published 2019-10-01

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

by Toni T. Seppälä, Aysel Ahadova, Mev Dominguez-Valentin, Finlay Macrae, D. Gareth Evans, Christina Therkildsen, Julian Sampson, Rodney Scott, John Burn, Gabriela Möslein, Inge Bernstein, Elke Holinski-Feder, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepistö, Charlotte Kvist Lautrup, Annika Lindblom, John-Paul Plazzer, Ingrid Winship, Douglas Tjandra, Lior H. Katz, Stefan Aretz, Robert Hüneburg, Stefanie Holzapfel, Karl Heinimann, Adriana Della Valle, Florencia Neffa, Nathan Gluck, Wouter H. de Vos tot Nederveen Cappel, Hans Vasen, Monika Morak, Verena Steinke-Lange, Christoph Engel, Nils Rahner, Wolff Schmiegel, Deepak Vangala, Huw Thomas, Kate Green, Fiona Lalloo, Emma J. Crosbie, James Hill, Gabriel Capella, Marta Pineda, Matilde Navarro, Ignacio Blanco, Sanne ten Broeke, Maartje Nielsen, Ken Ljungmann, Sigve Nakken, Noralane Lindor, Ian Frayling, Eivind Hovig, Lone Sunde, Matthias Kloor, Jukka-Pekka Mecklin, Mette Kalager, Pål Møller
Published 2019-02-01

Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement

by Pal Møller, Toni T. Seppälä, Aysel Ahadova, Emma J. Crosbie, Elke Holinski-Feder, Rodney Scott, Saskia Haupt, Gabriela Möslein, Ingrid Winship, Sanne W. Bajwa-ten Broeke, Kelly E. Kohut, Neil Ryan, Peter Bauerfeind, Laura E. Thomas, D. Gareth Evans, Stefan Aretz, Rolf H. Sijmons, Elizabeth Half, Karl Heinimann, Karoline Horisberger, Kevin Monahan, Christoph Engel, Giulia Martina Cavestro, Robert Fruscio, Naim Abu-Freha, Levi Zohar, Luigi Laghi, Lucio Bertario, Bernardo Bonanni, Maria Grazia Tibiletti, Leonardo S. Lino-Silva, Carlos Vaccaro, Adriana Della Valle, Benedito Mauro Rossi, Leandro Apolinário da Silva, Ivana Lucia de Oliveira Nascimento, Norma Teresa Rossi, Tadeusz Dębniak, Jukka-Pekka Mecklin, Inge Bernstein, Annika Lindblom, Lone Sunde, Sigve Nakken, Vincent Heuveline, John Burn, Eivind Hovig, Matthias Kloor, Julian R. Sampson, Mev Dominguez-Valentin, On behalf of the Prospective Lynch Syndrome Database (www.plsd.eu) and The European Hereditary Tumour Group (www.ehtg.org)
Published 2023-10-01

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in <i>MLH1</i> and <i>MSH2</i>: A Prospective Lynch Syndrome Database Study

by Mev Dominguez-Valentin, John-Paul Plazzer, Julian R. Sampson, Christoph Engel, Stefan Aretz, Mark A. Jenkins, Lone Sunde, Inge Bernstein, Gabriel Capella, Francesc Balaguer, Finlay Macrae, Ingrid M. Winship, Huw Thomas, Dafydd Gareth Evans, John Burn, Marc Greenblatt, Wouter H. de Vos tot Nederveen Cappel, Rolf H. Sijmons, Maartje Nielsen, Lucio Bertario, Bernardo Bonanni, Maria Grazia Tibiletti, Giulia Martina Cavestro, Annika Lindblom, Adriana Della Valle, Francisco Lopez-Kostner, Karin Alvarez, Nathan Gluck, Lior Katz, Karl Heinimann, Carlos A. Vaccaro, Sigve Nakken, Eivind Hovig, Kate Green, Fiona Lalloo, James Hill, Hans F. A. Vasen, Claudia Perne, Reinhard Büttner, Heike Görgens, Elke Holinski-Feder, Monika Morak, Stefanie Holzapfel, Robert Hüneburg, Magnus von Knebel Doeberitz, Markus Loeffler, Nils Rahner, Jürgen Weitz, Verena Steinke-Lange, Wolff Schmiegel, Deepak Vangala, Emma J. Crosbie, Marta Pineda, Matilde Navarro, Joan Brunet, Leticia Moreira, Ariadna Sánchez, Miquel Serra-Burriel, Miriam Mints, Revital Kariv, Guy Rosner, Tamara Alejandra Piñero, Walter Hernán Pavicic, Pablo Kalfayan, Sanne W. ten Broeke, Jukka-Pekka Mecklin, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepistö, Päivi Peltomäki, John L. Hopper, Aung Ko Win, Daniel D. Buchanan, Noralane M. Lindor, Steven Gallinger, Loïc Le Marchand, Polly A. Newcomb, Jane C. Figueiredo, Stephen N. Thibodeau, Christina Therkildsen, Thomas V. O. Hansen, Lars Lindberg, Einar Andreas Rødland, Florencia Neffa, Patricia Esperon, Douglas Tjandra, Gabriela Möslein, Toni T. Seppälä, Pål Møller
Published 2021-06-01

Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

by Pål Møller, Toni Seppälä, James G. Dowty, Saskia Haupt, Mev Dominguez-Valentin, Lone Sunde, Inge Bernstein, Christoph Engel, Stefan Aretz, Maartje Nielsen, Gabriel Capella, Dafydd Gareth Evans, John Burn, Elke Holinski-Feder, Lucio Bertario, Bernardo Bonanni, Annika Lindblom, Zohar Levi, Finlay Macrae, Ingrid Winship, John-Paul Plazzer, Rolf Sijmons, Luigi Laghi, Adriana Della Valle, Karl Heinimann, Elizabeth Half, Francisco Lopez-Koestner, Karin Alvarez-Valenzuela, Rodney J. Scott, Lior Katz, Ido Laish, Elez Vainer, Carlos Alberto Vaccaro, Dirce Maria Carraro, Nathan Gluck, Naim Abu-Freha, Aine Stakelum, Rory Kennelly, Des Winter, Benedito Mauro Rossi, Marc Greenblatt, Mabel Bohorquez, Harsh Sheth, Maria Grazia Tibiletti, Leonardo S. Lino-Silva, Karoline Horisberger, Carmen Portenkirchner, Ivana Nascimento, Norma Teresa Rossi, Leandro Apolinário da Silva, Huw Thomas, Attila Zaránd, Jukka-Pekka Mecklin, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepisto, Päivi Peltomäki, Christina Therkildsen, Lars Joachim Lindberg, Ole Thorlacius-Ussing, Magnus von Knebel Doeberitz, Markus Loeffler, Nils Rahner, Verena Steinke-Lange, Wolff Schmiegel, Deepak Vangala, Claudia Perne, Robert Hüneburg, Aída Falcón de Vargas, Andrew Latchford, Anne-Marie Gerdes, Ann-Sofie Backman, Carmen Guillén-Ponce, Carrie Snyder, Charlotte K. Lautrup, David Amor, Edenir Palmero, Elena Stoffel, Floor Duijkers, Michael J. Hall, Heather Hampel, Heinric Williams, Henrik Okkels, Jan Lubiński, Jeanette Reece, Joanne Ngeow, Jose G. Guillem, Julie Arnold, Karin Wadt, Kevin Monahan, Leigha Senter, Lene J. Rasmussen, Liselotte P. van Hest, Luigi Ricciardiello, Maija R. J. Kohonen-Corish, Marjolijn J. L. Ligtenberg, Melissa Southey, Melyssa Aronson, Mohd N. Zahary, N. Jewel Samadder, Nicola Poplawski, Nicoline Hoogerbrugge, Patrick J. Morrison, Paul James, Grant Lee, Rakefet Chen-Shtoyerman, Ravindran Ankathil, Rish Pai, Robyn Ward, Susan Parry, Tadeusz Dębniak, Thomas John, Thomas van Overeem Hansen, Trinidad Caldés, Tatsuro Yamaguchi, Verónica Barca-Tierno, Pilar Garre, Giulia Martina Cavestro, Jürgen Weitz, Silke Redler, Reinhard Büttner, Vincent Heuveline, John L. Hopper, Aung Ko Win, Noralane Lindor, Steven Gallinger, Loïc Le Marchand, Polly A. Newcomb, Jane Figueiredo, Daniel D. Buchanan, Stephen N. Thibodeau, Sanne W. ten Broeke, Eivind Hovig, Sigve Nakken, Marta Pineda, Nuria Dueñas, Joan Brunet, Kate Green, Fiona Lalloo, Katie Newton, Emma J. Crosbie, Miriam Mints, Douglas Tjandra, Florencia Neffa, Patricia Esperon, Revital Kariv, Guy Rosner, Walter Hernán Pavicic, Pablo Kalfayan, Giovana Tardin Torrezan, Thiago Bassaneze, Claudia Martin, Gabriela Moslein, Aysel Ahadova, Matthias Kloor, Julian R. Sampson, Mark A. Jenkins, The European Hereditary Tumour Group (EHTG) and the International Mismatch Repair Consortium (IMRC)
Published 2022-10-01

Post-Operative Functional Outcomes in Early Age Onset Rectal Cancer

by REACCT Collaborative, Lauren V. O’Connell, Alexandra M. Zaborowski, Ahmed Abdile, Michel Adamina, Felix Aigner, Laura d’Allens, Caterina Allmer, Andrea Álvarez, Rocio Anula, Mihailo Andric, Sam Atallah Simon Bach, Miklosh Bala, Marie Barussaud, Augustinas Bausys, Andrew Beggs, Felipe Bellolio, Melissa-Rose Bennett, Vicki Bevan, Sebastiano Biondo, Gabriele Bislenghi, Marc Bludau, Carl Brown, Christiane Bruns, Daniel D. Buchanan, Pamela Buchwald, Jacobus W.A. Burger, Nikita Burlov, Michela Campanelli, Maylis Capdepont, Michele Carvello, Hwee-Hoon Chew, Dimitri Christoforidis, David Clark, Marta Climent, Rowan Collinson, Kyle G. Cologne, Tomas Contreras, Roland Croner, Ian R. Daniels, Giovanni Dapri, Justin Davies, Paolo Delrio, Quentin Denost, Michael Deutsch, Andre Dias, André D’Hoore, Evgeniy Drozdov, Daniel Duek, Malcolm Dunlop, Adam Dziki, Aleksandra Edmundson, Sergey Efetov, Alaa El-Hussuna, Brodie Elliott, Sameh Emile, Eloy Espin-Basany, Martyn Evans, Seraina Faes, Omar Faiz, Nuno Figueiredo, Fergal Fleming, Caterina Foppa, George Fowler, Matteo Frasson, Tim Forgan, Frank Frizelle, Shamil Gadaev, Jose Gellona, Tamara Glyn, Barisic Goran, Emma Greenwood, Marianne G. Guren, Stephanie Guillon, Ida Gutlic, Dieter Hahnloser, Heather Hampel, Ann Hanly, Hirotoshi Hasegawa, Lene Hjerrild Iversen, Andrew Hill, James Hill, Jiri Hoch, Roel Hompes, Luis Hurtado, Fabiano Iaquinandi, Ugne Imbrasaite, Rumana Islam, Mehrenah D Jafari, Andrea Jiménez Salido, Marta Jiménez-Toscano, Yukihide Kanemitsu, Aleksei Karachun, Ahmer A. Karimuddin, Deborah S. Keller, Justin Kelly, Rory Kennelly, Gleb Khrykov, Petr Kocian, Cherry Koh, Neils Kok, Katrina A. Knight, Joep Knol, Christos Kontovounisios, Hartwig Korner, Zoran Krivokapic, Irmgard Kronberger, Hidde Maarten Kroon, Marius Kryzauskas, Said Kural, Miranda Kusters, Zaher Lakkis, Timur Lankov, David Larson, György Lázár, Kai-Yin Lee, Suk Hwan Lee, Jérémie H. Lefèvre, Anna Lepisto, Christopher Lieu, Lynette Loi, Craig Lynch, Helene Maillou-Martinaud, Annalisa Maroli, Sean T. Martin, Anna Martling, Klaus E. Matzel, Julio Mayol, Frank McDermott, Guillaume Meurette, Monica Millan, Martin Mitteregger, Andrei Moiseenko, John RT. Monson, Stefan Morarasu, Konosuke Moritani, Gabriela Möslein, Martino Munini, Caio Nahas, Sergio Nahas, Ionut Negoi, Anastasia Novikova, Misael Ocares, Koji Okabayashi, Alexandra Olkina, Luis Oñate-Ocaña, Jaime Otero, Cihan Ozen, Ugo Pace, Guilherme Pagin São Julião, Lidiia Panaiotti, Yves Panis, Demetris Papamichael, Swati Patel, Juan Carlos Patrón Uriburu, Sze-Lin Peng, Miguel Pera, Rodrigo O. Perez, Alexei Petrov, Frank Pfeffer, Terry P. Phang, Tomas Poskus, Heather Pringle, David Proud, Ivana Raguz, Nuno Rama, Shahnawaz Rasheed, Manoj J. Raval, Daniela Rega, Christoph Reissfelder, Juan Carlos Reyes Meneses, Frederic Ris, Stefan Riss, Homero Rodriguez-Zentner, Campbell S Roxburgh, Avanish Saklani, Tarik Sammour, Deborah Saraste, Martin Schneider, Ryo Seishima, Aleksandar Sekulic, Toni Seppala, Kieran Sheahan, Alexandra Shlomina, Guiseppe Sica, Tongplaew Singnomklao, Leandro Siragusa, Neil Smart, Alejandro Solis-Peña, Antonino Spinelli, Roxane D. Staiger, Michael J. Stamos, Scott Steele, Ker-Kan Tan, Pieter J Tanis, Paris Tekkis, Biniam Teklay, Sabrina Tengku, Petr Tsarkov, Matthias Turina, Alexis Ulrich, Bruna B. Vailati, Meike van Harten, Cornelis Verhoef, Satish Warrier, Steven Wexner, Benjamin A. Weinberg, Cameron Wells, Albert Wolthuis, Evangelos Xynos, Nancy You, Alexander Zakharenko, Justino Zeballos, Youzhi Zhou, Des C. Winter
Published 2022-05-01