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Anzahl der Publikationen: 33
Zeitschriftenartikel
Moller, Pal; Seppala, Toni; Dowty, James G.; Haupt, Saskia; Dominguez-Valentin, Mev; Sunde, Lone; Bernstein, Inge; Engel, Christoph; Aretz, Stefan; Nielsen, Maartje; Capella, Gabriel; Evans, Dafydd Gareth; Burn, John; Holinski-Feder, Elke; Bertario, Lucio; Bonanni, Bernardo; Lindblom, Annika; Levi, Zohar; Macrae, Finlay; Winship, Ingrid; Plazzer, John-Paul; Sijmons, Rolf; Laghi, Luigi; Della Valle, Adriana; Heinimann, Karl; Half, Elizabeth; Lopez-Koestner, Francisco; Alvarez-Valenzuela, Karin; Scott, Rodney J.; Katz, Lior; Laish, Ido; Vainer, Elez; Vaccaro, Carlos Alberto; Carraro, Dirce Maria; Gluck, Nathan; Abu-Freha, Naim; Stakelum, Aine; Kennelly, Rory; Winter, Des; Rossi, Benedito Mauro; Greenblatt, Marc; Bohorquez, Mabel; Sheth, Harsh; Tibiletti, Maria Grazia; Lino-Silva, Leonardo S.; Horisberger, Karoline; Portenkirchner, Carmen; Nascimento, Ivana; Rossi, Norma Teresa; da Silva, Leandro Apolinario; Thomas, Huw; Zarand, Attila; Mecklin, Jukka-Pekka; Pylvanainen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Peltomaki, Paivi; Therkildsen, Christina; Lindberg, Lars Joachim; Thorlacius-Ussing, Ole; Knebel Doeberitz, Magnus von; Loeffler, Markus; Rahner, Nils; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Hueneburg, Robert; de Vargas, Aida Falcon; Latchford, Andrew; Gerdes, Anne-Marie; Backman, Ann-Sofie; Guillen-Ponce, Carmen; Snyder, Carrie; Lautrup, Charlotte K.; Amor, David; Palmero, Edenir; Stoffel, Elena; Duijkers, Floor; Hall, Michael J.; Hampel, Heather; Williams, Heinric; Okkels, Henrik; Lubinski, Jan; Reece, Jeanette; Ngeow, Joanne; Guillem, Jose G.; Arnold, Julie; Wadt, Karin; Monahan, Kevin; Senter, Leigha; Rasmussen, Lene J.; Hest, Liselotte P. van; Ricciardiello, Luigi; Kohonen-Corish, Maija R. J.; Ligtenberg, Marjolijn J. L.; Southey, Melissa; Aronson, Melyssa; Zahary, Mohd N.; Samadder, N. Jewel; Poplawski, Nicola; Hoogerbrugge, Nicoline; Morrison, Patrick J.; James, Paul; Lee, Grant; Chen-Shtoyerman, Rakefet; Ankathil, Ravindran; Pai, Rish; Ward, Robyn; Parry, Susan; Debniak, Tadeusz; John, Thomas; Overeem Hansen, Thomas van; Caldes, Trinidad; Yamaguchi, Tatsuro; Barca-Tierno, Veronica; Garre, Pilar; Cavestro, Giulia Martina; Weitz, Juergen; Redler, Silke; Buettner, Reinhard; Heuveline, VincentZ; Hopper, John L.; Win, Aung Ko; Lindor, Noralane; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane; Buchanan, Daniel D.; Thibodeau, Stephen N.; ten Broeke, Sanne W.; Hovig, Eivind; Nakken, Sigve; Pineda, Marta; Duenas, Nuria; Brunet, Joan; Green, Kate; Lalloo, Fiona; Newton, Katie; Crosbie, Emma J.; Mints, Miriam; Tjandra, Douglas; Neffa, Florencia; Esperon, Patricia; Kariv, Revital; Rosner, Guy; Pavicic, Walter Hernan; Kalfayan, Pablo; Torrezan, Giovana Tardin; Bassaneze, Thiago; Martin, Claudia; Moslein, Gabriela; Ahadova, Aysel; Kloor, Matthias; Sampson, Julian R. und Jenkins, Mark A.
(2022):
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.
In: Hereditary Cancer in Clinical Practice, Bd. 20, Nr. 1, 36
Kratz, Christian Peter; Steinke-Lange, Verena; Spier, Isabel; Aretz, Stefan; Schröck, Evelin und Holinski-Feder, Elke
(2022):
Overview of the Clinical Features of Li-Fraumeni Syndrome and the Current European ERN GENTURIS Guideline.
In: Geburtshilfe und Frauenheilkunde, Bd. 82, Nr. 1: S. 42-49
Sommer, Anna K.; te Paske, Iris B. A. W.; Garcia-Pelaez, Jose; Laner, Andreas; Holinski-Feder, Elke; Steinke-Lange, Verena; Peters, Sophia; Valle, Laura; Spier, Isabel; Huntsman, David; de Voer, Richarda M.; Hoogerbrugge, Nicoline; Aretz, Stefan und Oliveira, Carla
(2022):
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD.
In: European Journal of Medical Genetics, Bd. 65, Nr. 5, 104475
Soares de Lima, Yasmin; Arnau-Collell, Coral; Muñoz, Jenifer; Herrera-Pariente, Cristina; Moreira, Leticia; Ocaña, Teresa; Díaz-Gay, Marcos; Franch-Expósito, Sebastià; Cuatrecasas, Miriam; Carballal, Sabela; Lopez-Novo, Anael; Moreno, Lorena; Fernàndez, Guerau; Díaz de Bustamante, Aranzazu; Peters, Sophia; Sommer, Anna K.; Spier, Isabel 
ORCID: https://orcid.org/0000-0003-2407-7427; Paske, Iris B. A. W. te; Herwaarden, Yasmijn J. van; Castells, Antoni; Bujanda, Luis; Capellà, Gabriel; Steinke-Lange, Verena; Mahmood, Khalid; Joo, JiHoon Eric; Arnold, Julie; Parry, Susan; Macrae, Finlay A.; Winship, Ingrid M.; Rosty, Christophe; Cubiella, Joaquin; Rodríguez-Alcalde, Daniel; Holinski-Feder, Elke; Voer, Richarda de ORCID: https://orcid.org/0000-0002-8222-0343; Buchanan, Daniel D ORCID: https://orcid.org/0000-0003-2225-6675; Aretz, Stefan; Ruiz-Ponte, Clara; Valle, Laura; Balaguer, Francesc; Bonjoch, Laia und Castellvi-Bel, Sergi ORCID: https://orcid.org/0000-0003-1217-5097
(2022):
Germline mutations inWNK2could be associated with serrated polyposis syndrome.
In: Journal of Medical Genetics, Bd. 60, Nr. 6: S. 557-567
ORCID: https://orcid.org/0000-0003-2407-7427; Paske, Iris B. A. W. te; Herwaarden, Yasmijn J. van; Castells, Antoni; Bujanda, Luis; Capellà, Gabriel; Steinke-Lange, Verena; Mahmood, Khalid; Joo, JiHoon Eric; Arnold, Julie; Parry, Susan; Macrae, Finlay A.; Winship, Ingrid M.; Rosty, Christophe; Cubiella, Joaquin; Rodríguez-Alcalde, Daniel; Holinski-Feder, Elke; Voer, Richarda de ORCID: https://orcid.org/0000-0002-8222-0343; Buchanan, Daniel D ORCID: https://orcid.org/0000-0003-2225-6675; Aretz, Stefan; Ruiz-Ponte, Clara; Valle, Laura; Balaguer, Francesc; Bonjoch, Laia und Castellvi-Bel, Sergi ORCID: https://orcid.org/0000-0003-1217-5097
(2022):
Germline mutations inWNK2could be associated with serrated polyposis syndrome.
In: Journal of Medical Genetics, Bd. 60, Nr. 6: S. 557-567
Cousin, Margot A.; Creighton, Blake A.; Breau, Keith A.; Spillmann, Rebecca C.; Torti, Erin; Dontu, Sruthi; Tripathi, Swarnendu; Ajit, Deepa; Edwards, Reginald J.; Afriyie, Simone; Bay, Julia C.; Harper, Kathryn M.; Beltran, Alvaro A.; Munoz, Lorena J.; Falcon Rodriguez, Liset; Stankewich, Michael C.; Person, Richard E.; Si, Yue; Normand, Elizabeth A.; Blevins, Amy; May, Alison S.; Bier, Louise; Aggarwal, Vimla; Mancini, Grazia M. S.; van Slegtenhorst, Marjon A.; Cremer, Kirsten; Becker, Jessica; Engels, Hartmut; Aretz, Stefan; MacKenzie, Jennifer J.; Brilstra, Eva; van Gassen, Koen L. I.; van Jaarsveld, Richard H.; Oegema, Renske; Parsons, Gretchen M.; Mark, Paul; Helbig, Ingo; McKeown, Sarah E.; Stratton, Robert; Cogne, Benjamin; Isidor, Bertrand; Cacheiro, Pilar; Smedley, Damian; Firth, Helen V.; Bierhals, Tatjana; Kloth, Katja; Weiss, Deike; Fairley, Cecilia; Shieh, Joseph T.; Kritzer, Amy; Jayakar, Parul; Kurtz-Nelson, Evangeline; Bernier, Raphael A.; Wang, Tianyun; Eichler, Evan E.; van de Laar, Ingrid M. B. H.; McConkie-Rosell, Allyn; McDonald, Marie T.; Kemppainen, Jennifer; Lanpher, Brendan C.; Schultz-Rogers, Laura E.; Gunderson, Lauren B.; Pichurin, Pavel N.; Yoon, Grace; Zech, Michael; Jech, Robert; Winkelmann, Juliane; Beltran, Adriana S.; Zimmermann, Michael T.; Temple, Brenda; Moy, Sheryl S.; Klee, Eric W.; Tan, Queenie K. -G. und Lorenzo, Damaris N.
(2021):
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
In: Nature Genetics, Bd. 53, Nr. 7:
1006-+
[PDF, 9MB]
Bucksch, Karolin; Zachariae, Silke; Ahadova, Aysel; Aretz, Stefan; Buttner, Reinhard; Goergens, Heike; Holinski-Feder, Elke; Hueneburg, Robert; Kloor, Matthias; Doeberitz, Magnus Knebel; Ladigan-Badura, Swetlana; Moeslein, Gabriela; Morak, Monika; Nattermann, Jacob; Huu Phuc, Nguyen; Perne, Claudia; Redler, Silke; Schmetz, Ariane; Steinke-Lange, Verena; Surowy, Harald; Vangala, Deepak B.; Weitz, Jürgen; Loeffler, Markus und Engel, Christoph
(2021):
Adenoma and colorectal cancer risks in Lynch syndrome, Lynch-like syndrome and familial colorectal cancer type X.
In: International Journal of Cancer, Bd. 150, Nr. 1: S. 56-66
Dominguez-Valentin, Mev; Plazzer, John-Paul; Sampson, Julian R.; Engel, Christoph; Aretz, Stefan; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Capella, Gabriel; Balaguer, Francesc; Macrae, Finlay; Winship, Ingrid M.; Thomas, Huw; Evans, Dafydd Gareth; Burn, John; Greenblatt, Marc; Vos Tot Nederveen Cappel, Wouter H. de; Sijmons, Rolf H.; Nielsen, Maartje; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Lindblom, Annika; Della Valle, Adriana; Lopez-Kostner, Francisco; Alvarez, Karin; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos A.; Nakken, Sigve; Hovig, Eivind; Green, Kate; Lalloo, Fiona; Hill, James; Vasen, Hans F. A.; Perne, Claudia; Büttner, Reinhard; Görgens, Heike; Holinski-Feder, Elke; Morak, Monika; Holzapfel, Stefanie; Hüneburg, Robert; Knebel Doeberitz, Magnus von; Loeffler, Markus; Rahner, Nils; Weitz, Jürgen; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Crosbie, Emma J.; Pineda, Marta; Navarro, Matilde; Brunet, Joan; Moreira, Leticia; Sanchez, Ariadna; Serra-Burriel, Miquel; Mints, Miriam; Kariv, Revital; Rosner, Guy; Pinero, Tamara Alejandra; Pavicic, Walter Hernan; Kalfayan, Pablo; Broeke, Sanne W. ten; Mecklin, Jukka-Pekka; Pylvänäinen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Peltomäki, Päivi; Hopper, John L.; Win, Aung Ko; Buchanan, Daniel D.; Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Therkildsen, Christina; Hansen, Thomas V. O.; Lindberg, Lars; Rodland, Einar Andreas; Neffa, Florencia; Esperon, Patricia; Tjandra, Douglas; Möslein, Gabriela; Seppälä, Toni T. und Moller, Pal
(2021):
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study.
In: Journal of Clinical Medicine, Bd. 10, Nr. 13, 2856
Seppälä, Toni T.; Dominguez-Valentin, Mev; Crosbie, Emma J.; Engel, Christoph; Aretz, Stefan; Macrae, Finlay; Winship, Ingrid; Capella, Gabriel; Thomas, Huw; Hovig, Eivind; Nielsen, Maartje; Sijmons, Rolf H.; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria G.; Cavestro, Giulia M.; Mints, Miriam; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos A.; Green, Kate; Lalloo, Fiona; Hill, James; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Strauss, Hans-Georg; Tecklenburg, Johanna; Holinski-Feder, Elke; Steinke-Lange, Verena; Mecklin, Jukka-Pekka; Plazzer, John-Paul; Pineda, Marta; Navarro, Matilde; Vida, Joan B.; Kariv, Revital; Rosner, Guy; Pinero, Tamara A.; Pavicic, Walter; Kalfayan, Pablo; Ten Broeke, Sanne W.; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Burn, John; Greenblatt, Marc; Cappel, Wouter H. de Vos Tot Nederveen; Della Valle, Adriana; Lopez-Koestner, Francisco; Alvarez, Karin; Büttner, Reinhard; Goergens, Heike; Morak, Monika; Holzapfel, Stefanie; Hüneburg, Robert; Knebel Doeberitz, Magnus von; Loeffler, Markus; Redler, Silke; Weitz, Jürgen; Pylvaenaeinen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Hopper, John L.; Win, Aung K.; Lindor, Noralane M.; Gallinger, Steven; Marchand, Loic Le; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Therkildsen, Christina; Wadt, Karin A. W.; Mourits, Marian J. E.; Ketabi, Zohreh; Denton, Oliver G.; Rodland, Einar A.; Vasen, Hans; Neffa, Florencia; Esperon, Patricia; Tjandra, Douglas; Möslein, Gabriela; Rokkones, Erik; Sampson, Julian R.; Evans, D. G. und Moller, Pal
(2021):
Uptake of hysterectomy and bilateral salpingooophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
In: European Journal of Cancer, Bd. 148: S. 124-133
Vangala, Deepak B.; Ladigan-Badura, Swetlana; Engel, Christoph; Hueneburg, Robert; Perne, Claudia; Bucksch, Karolin; Nattermann, Jacob; Steinke-Lange, Verena; Rahner, Nils; Weitz, Jürgen; Kloor, Matthias; Tomann, Judith; Canbay, Ali; Huu-Phuc, Nguyen; Strassburg, Christian; Moeslein, Gabriele; Morak, Monika; Holinski-Feder, Elke; Buettner, Reinhard; Aretz, Stefan; Löffler, Markus; Schmiegel, Wolff; Pox, Christian und Schulmann, Karsten
(2021):
Early detection of duodenal cancer by upper gastrointestinal-endoscopy in Lynch syndrome.
In: International Journal of Cancer, Bd. 149, Nr. 12: S. 2052-2062
Perne, Claudia; Steinke-Lange, Verena; Aretz, Stefan und Spier, Isabel
(2020):
Seltene Tumoren als Leitsymptom hereditärer Tumorsyndrome.
In: Onkologe, Bd. 26, Nr. 3: S. 205-218
Dominguez-Valentin, Mev; Seppala, Toni T.; Engel, Christoph; Aretz, Stefan; Macrae, Finlay; Winship, Ingrid; Capella, Gabriel; Thomas, Huw; Hovig, Eivind; Nielsen, Maartje; Sijmons, Rolf H.; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Mints, Miriam; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos A.; Green, Kate; Lalloo, Fiona; Hill, James; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Strauss, Hans-Georg; Tecklenburg, Johanna; Holinski-Feder, Elke; Steinke-Lange, Verena; Mecklin, Jukka-Pekka; Plazzer, John-Paul; Pineda, Marta; Navarro, Matilde; Vidal, Joan Brunet; Kariv, Revital; Rosner, Guy; Alejandra Pinero, Tamara; Laura Gonzalez, Maria; Kalfayan, Pablo; Sampson, Julian R.; Ryan, Neil A. J.; Evans, D. Gareth; Moller, Pal und Crosbie, Emma J.
(2020):
Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database.
In: Journal of Clinical Medicine, Bd. 9, Nr. 7, 2290
Bucksch, Karolin; Zachariae, Silke; Aretz, Stefan; Buettner, Reinhard; Holinski-Feder, Elke; Holzapfel, Stefanie; Hueneburg, Robert; Kloor, Matthias; Knebel Doeberitz, Magnus von; Morak, Monika; Möslein, Gabriela; Nattermann, Jacob; Perne, Claudia; Rahner, Nils; Schmiegel, Wolff; Schulmann, Karsten; Steinke-Lange, Verena; Strassburg, Christian P.; Vangala, Deepak B.; Weitz, Jürgen; Loeffler, Markus und Engel, Christoph
(2020):
Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study.
In: BMC Cancer, Bd. 20, Nr. 1
Engel, Christoph; Ahadova, Aysel; Seppala, Toni T.; Aretz, Stefan; Bigirwamungu-Bargeman, Marloes; Blaeker, Hendrik; Bucksch, Karolin; Buettner, Reinhard; Vos Tot Nederveen Cappel, Wouter T. De; Endris, Volker; Holinski-Feder, Elke; Holzapfel, Stefanie; Hueneburg, Robert; Jacobs, Maarten A. J. M.; Koornstra, Jan J.; Langers, Alexandra M.; episto, Anna; Morak, Monika; M oeslein, Gabriela; Peltomaeki, Paivi; Pylvaenaeinen, Kirsi; Rahner, Nils; Renkonen-Sinisalo, Laura; Schulmann, Karsten; Steinke-Lange, Verena; Stenzinger, Albrecht; Strassburg, Christian P.; Meeberg, Paul C. van de; Kouwen, Mariette van; Leerdam, Monique van; Vangala, Deepak B.; Vecht, Juda; Verhulst, Marie-Louise; Knebel Doeberitz, Magnus von; Weitz, Jürgen; Zachariae, Silke; Loeffler, Markus; Mecklin, Jukka-Pekka; Kloor, Matthias und Vasen, Hans F.
(2020):
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.
In: Gastroenterology, Bd. 158, Nr. 5: S. 1326-1333
Dominguez-Valentin, Mev; Crosbie, Emma J.; Engel, Christoph; Aretz, Stefan; Macrae, Finlay; Winship, Ingrid; Capella, Gabriel; Thomas, Huw; Nakken, Sigve; Hovig, Eivind; Nielsen, Maartje; Sijmons, Rolf H.; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Mints, Miriam; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos A.; Green, Kate; Lalloo, Fiona; Hill, James; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Strauss, Hans-Georg; Tecklenburg, Johanna; Holinski-Feder, Elke; Steinke-Lange, Verena; Mecklin, Jukka-Pekka; Plazzer, John-Paul; Pineda, Marta; Navarro, Matilde; Brunet Vidal, Joan; Kariv, Revital; Rosner, Guy; Alejandra Pinero, Tamara; Laura Gonzalez, Maria; Kalfayan, Pablo; Ryan, Neil; Ten Broeke, Sanne W.; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Burn, John; Greenblatt, Marc; Vos tot Nederveen Cappel, Wouter H. de; Della Valle, Adriana; Lopez-Koestner, Francisco; Alvarez, Karin; Buettner, Reinhard; Goergens, Heike; Morak, Monika; Holzapfel, Stefanie; Hueneburg, Robert; Doeberitz, Magnus von Knebel; Loeffler, Markus; Rahner, Nils; Weitz, Jurgen; Pylvanainen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Auranen, Annika; Hopper, John L.; Win, Aung Ko; Haile, Robert W.; Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Therkildsen, Christina; Okkels, Henrik; Ketabi, Zohreh; Denton, Oliver G.; Rodland, Einar Andreas; Vasen, Hans; Neffa, Florencia; Esperon, Patricia; Tjandra, Douglas; Möslein, Gabriela; Sampson, Julian R.; Evans, D. Gareth; Seppala, Toni T. und Moller, Pal
(2020):
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
In: Genetics in Medicine, Bd. 23, Nr. 4: S. 705-712
Dominguez-Valentin, Mev; Sampson, Julian R.; Seppala, Toni T.; ten Broeke, Sanne W.; Plazzer, John-Paul; Nakken, Sigve; Engel, Christoph; Aretz, Stefan; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Capella, Gabriel; Balaguer, Francesc; Thomas, Huw; Evans, D. Gareth; Burn, John; Greenblatt, Marc; Hovig, Eivind; Vos Tot Nederveen Cappel, Wouter H. de; Sijmons, Rolf H.; Bertario, Lucio; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Lindblom, Annika; Della Valle, Adriana; Lopez-Kostner, Francisco; Gluck, Nathan; Katz, Lior H.; Heinimann, Karl; Vaccaro, Carlos A.; Buettner, Reinhard; Goergens, Heike; Holinski-Feder, Elke; Morak, Monika; Holzapfel, Stefanie; Hueneburg, Robert; Knebel Doeberitz, Magnus von; Loeffler, Markus; Rahner, Nils; Schackert, Hans K.; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Pylvanainen, Kirsi; Renkonen-Sinisalo, Laura; Hopper, John L.; Win, Aung Ko; Haile, Robert W.; Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Wadt, Karin; Therkildsen, Christina; Okkels, Henrik; Ketabi, Zohreh; Moreira, Leticia; Sanchez, Ariadna; Serra-Burriel, Miquel; Pineda, Marta; Navarro, Matilde; Blanco, Ignacio; Green, Kate; Lalloo, Fiona; Crosbie, Emma J.; Hill, James; Denton, Oliver G.; Frayling, Ian M.; Rodland, Einar Andreas; Vasen, Hans; Mints, Miriam; Neffa, Florencia; Esperon, Patricia; Alvarez, Karin; Kariv, Revital; Rosner, Guy; Pinero, Tamara Alejandra; Gonzalez, Maria Laura; Kalfayan, Pablo; Tjandra, Douglas; Winship, Ingrid M.; Macrae, Finlay; Möslein, Gabriela; Mecklin, Jukka-Pekka; Nielsen, Maartje und Moller, Pal
(2020):
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
In: Genetics in Medicine, Bd. 22, Nr. 1: S. 15-25
Morak, Monika; Steinke-Lange, Verena; Massdorf, Trisari; Benet-Pages, Anna; Locher, Melanie; Laner, Andreas; Kayser, Katrin; Aretz, Stefan und Holinski-Feder, Elke
(2020):
Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnostics.
In: Familial Cancer, Bd. 19, Nr. 2: S. 161-167
Aretz, Stefan; Steinke-Lange, Verena; Vilz, Tim O. und Rädle, Jochen
(2020):
Hereditäre Darmkrebssyndrome: Diagnostik und Management.
In: Onkologe, Bd. 27, Nr. 3: S. 203-218
Perne, Claudia; Steinke-Lange, Verena; Aretz, Stefan und Spier, Isabel
(2020):
Seltene Tumoren als Leitsymptom hereditärer Tumorsyndrome.
In: Pathologe, Bd. 41, Nr. 5: S. 535-549
Ladigan-Badura, Swetlana; Vangala, Deepak B.; Engel, Christoph; Bucksch, Karolin; Hueneburg, Robert; Perne, Claudia; Nattermann, Jacob; Steinke-Lange, Verena; Rahner, Nils; Schackert, Hans K.; Weitz, Jürgen; Kloor, Matthias; Kuhlkamp, Judith; Nguyen, Huu Phuc; Möslein, Gabriela; Strassburg, Christian; Morak, Monika; Holinski-Feder, Elke; Buettner, Reinhard; Aretz, Stefan; Loeffler, Markus; Schmiegel, Wolff; Pox, Christian und Schulmann, Karsten
(2020):
Value of uppergastrointestinalendoscopy for gastric cancer surveillance in patients with Lynch syndrome.
In: International Journal of Cancer, Bd. 148, Nr. 1: S. 106-114
Blaeker, Hendrik; Haupt, Saskia; Morak, Monika; Holinski-Feder, Elke; Arnold, Alexander; Horst, David; Sieber-Frank, Julia; Seidler, Florian; Winterfeld, Moritz von; Alwers, Elizabeth; Chang-Claude, Jenny; Brenner, Hermann; Roth, Wilfried; Engel, Christoph; Loeffler, Markus; Möslein, Gabriela; Schackert, Hans-Konrad; Weitz, Jürgen; Perne, Claudia; Aretz, Stefan; Hueneburg, Robert; Schmiegel, Wolff; Vangala, Deepak; Rahner, Nils; Steinke-Lange, Verena; Heuveline, Vincent; Knebel Doeberitz, Magnus von; Ahadova, Aysel; Hoffmeister, Michael und Kloor, Matthias
(2020):
Age-dependent performance of BRAF mutation testing in Lynch syndrome diagnostics.
In: International Journal of Cancer, Bd. 147, Nr. 10: S. 2801-2810
Horn, L. -C.; Emons, G.; Aretz, S.; Bock, N.; Follmann, M.; Lax, S.; Nothacker, M.; Steiner, E.; Mayr, D.; Alt-Epping, Bernd; Aretz, Stefan; Bauerschmitz, Gerd; Beckmann, Matthias W.; Bock, Nina; Cremer, Wolfgang; Dauelsberg, Timm; Emons, Guenter; Feyer, Petra; Fleisch, Markus; Friedrich, Michael; Gebhardt, Marion; Grab, Dieter; Hagen, Volker; Hanf, Volker; Henscher, Ulla; Hilpert, Felix; Hoecht, Stefan; Horn, Lars-Christian; Hübner, Jutta; Juhasz-Boess, Ingolf; Kimmig, Rainer; Kreissl, Michael; Kurzeder, Christian; Langrehr, Jan; Lax, Sigurd; Leinung, Steffen; Letsch, Anne; Lichtenegger, Werner; Mallmann, Peter; Mayr, Doris; Meindl, Alfons; Menke, Jan; Müller, Michael D.; Mustea, Alexander; Niehoff, Peter; Niehues, Christiane; van Oorschot, Birgitt; Ortmann, Olaf; Panke, Joan Elisabeth; Paradies, Kerstin; Petru, Edgar; Proempeler, Heinrich; Prott, Franz-Josef; Rahner, Nils; Reinhardt, Michael J.; Rose, Anne D.; Runnebaum, Ingo; Schmutzler, Rita Katharina; Schorsch, Annemarie; Steiner, Eric; Steinke-Lange, Verena; Strnad, Vratislav; Tempfer, Clemens; Tholen, Reina; Uleer, Christoph; Vordermark, Dirk; Weis, Joachim B.; Wight, Edward; Witteler, Ralf und Zeimet, Alain-Gustave
(2019):
S3-Leitlinie Diagnostik und Therapie des Endometriumkarzinoms. Anforderungen an die Pathologie.
In: Pathologe, Bd. 40, Nr. 1: S. 21-35
Seppala, Toni T.; Ahadova, Aysel; Dominguez-Valentin, Mev; Macrae, Finlay; Evans, D. Gareth; Therkildsen, Christina; Sampson, Julian; Scott, Rodney; Burn, John; Moeslein, Gabriela; Bernstein, Inge; Holinski-Feder, Elke; Pylvanainen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Lautrup, Charlotte Kvist; Lindblom, Annika; Plazzer, John-Paul; Winship, Ingrid; Tjandra, Douglas; Katz, Lior H.; Aretz, Stefan; Hueneburg, Robert; Holzapfel, Stefanie; Heinimann, Karl; Della Valle, Adriana; Neffa, Florencia; Gluck, Nathan; Cappel, Wouter H. de Vos Tot Nederveen; Vasen, Hans; Morak, Monika; Steinke-Lange, Verena; Engel, Christoph; Rahner, Nils; Schmiegel, Wolff; Vangala, Deepak; Thomas, Huw; Green, Kate; Lalloo, Fiona; Crosbie, Emma J.; Hill, James; Capella, Gabriel; Pineda, Marta; Navarro, Matilde; Blanco, Ignacio; ten Broeke, Sanne; Nielsen, Maartje; Ljungmann, Ken; Nakken, Sigve; Lindor, Noralane; Frayling, Ian; Hovig, Eivind; Sunde, Lone; Kloor, Matthias; Mecklin, Jukka-Pekka; Kalager, Mette und Moller, Pal
(2019):
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.
In: Hereditary Cancer in Clinical Practice, Bd. 17, 8
Broeke, Sanne W. ten; Rodriguez-Girondo, Mar; Suerink, Manon; Aretz, Stefan; Bernstein, Inge; Capella, Gabriel; Engel, Christoph; Gomez-Garcia, Encarna B.; van Hest, Liselot P.; Knebel Döberitz, Magnus von; Lagerstedt-Robinson, Kristina; Letteboer, Tom G. W.; Moller, Pal; Os, Theo A. van; Pineda, Marta; Rahner, Nils; Olderode-Berends, Maran J. W.; Salome, Jenny von; Schackert, Hans K.; Spruijt, Liesbeth; Steinke-Lange, Verena; Wagner, Anja; Tops, Carli M. J. und Nielsen, Maartje
(2019):
The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect.
In: Cancer Epidemiology Biomarkers & Prevention, Bd. 28, Nr. 6: S. 1010-1014
Hueneburg, Robert; Aretz, Stefan; Buettner, Reinhard; Daum, Severin; Engel, Christoph; Fechner, Guido; Habermann, Jens K.; Heling, Dominik; Hoffmann, Katrin; Holinski-Feder, Elke; Kloor, Matthias; Knebel-Döberitz, Magnus von; Löffler, Markus; Moeslein, Gabriela; Perne, Claudia; Redler, Silke; Riess, Olaf; Schmiegel, Wolff; Seufferlein, Thomas; Siebers-Renelt, Ulrike; Steinke-Lange, Verena; Tecklenburg, Johanna; Vangala, Deepak; Vilz, Tim; Weitz, Jürgen; Wiedenmann, Bertram; Strassburg, Christian P. und Nattermann, Jacob
(2019):
Empfehlungen zur Früherkennung, Risikoreduktion, Überwachung und Therapie bei Patienten mit Lynch-Syndrom.
In: Zeitschrift für Gastroenterologie, Bd. 57, Nr. 11: S. 1309-1320
Tempfer, Clemens; Steinke-Lange, Verena; Aretz, Stefan und Hanf, Volker
(2018):
Epidemiologie, Risikofaktoren und Genetik des Endometriumkarzinoms.
In: Gynäkologe, Bd. 51, Nr. 12: S. 1000-1008
Emons, Guenter; Steiner, Eric; Vordermark, Dirk; Uleer, Christoph; Bock, Nina; Paradies, Kerstin; Ortmann, Olaf; Aretz, Stefan; Mallmann, Peter; Kurzeder, Christian; Hagen, Volker; Oorschot, Birgitt van; Hoecht, Stefan; Feyer, Petra; Egerer, Gerlinde; Friedrich, Michael; Cremer, Wolfgang; Prott, Franz-Josef; Horn, Lars-Christian; Prompeler, Heinrich; Langrehr, Jan; Leinung, Steffen; Beckmann, Matthias W.; Kimmig, Rainer; Letsch, Anne; Reinhardt, Michael; Alt-Epping, Bernd; Kiesel, Ludwig; Menke, Jan; Gebhardt, Marion; Steinke-Lange, Verena; Rahner, Nils; Lichtenegger, Werner; Zeimet, Alain; Hanf, Volker; Weis, Joachim; Müller, Michael; Henscher, Ulla; Schmutzler, Rita K.; Meindl, Alfons; Hilpert, Felix; Panke, Joan Elisabeth; Strnad, Vratislav; Niehues, Christiane; Dauelsberg, Timm; Niehoff, Peter; Mayr, Doris; Grab, Dieter; Kreissl, Michael; Witteler, Ralf; Schorsch, Annemarie; Mustea, Alexander; Petru, Edgar; Hübner, Jutta; Rose, Anne Derke; Wight, Edward; Tholen, Reina; Bauerschmitz, Gerd J.; Fleisch, Markus; Juhasz-Boess, Ingolf; Lax, Sigurd; Runnebaum, Ingo; Tempfer, Clemens; Nothacker, Monika J.; Bloedt, Susanne; Follmann, Markus; Langer, Thomas; Raatz, Heike; Wesselmann, Simone und Erdogan, Saskia
(2018):
Interdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Number 032/034-OL, April 2018) - Part 2 with Recommendations on the Therapy and Follow-up of Endometrial Cancer, Palliative Care, Psycho-oncological/Psychosocial Care/Rehabilitation/Patient Information and Healthcare Facilities.
In: Geburtshilfe und Frauenheilkunde, Bd. 78, Nr. 11: S. 1089-1109
Emons, Guenter; Steiner, Eric; Vordermark, Dirk; Uleer, Christoph; Bock, Nina; Paradiess, Kerstin; Ortmann, Olaf; Aretz, Stefan; Mallmann, Peter; Kurzeder, Christian; Hagen, Volker; Oorschot, Birgitt van; Hoecht, Stefan; Feyer, Petra; Egerer, Gerlinde; Friedrich, Michael; Cremer, Wolfgang; Prott, Franz-Josef; Horn, Lars-Christian; Proempeler, Heinrich; Langrehr, Jan; Leinung, Steffen; Beckmann, Matthias W.; Kimmig, Rainer; Letsch, Anne; Reinhardt, Michael; Alt-Epping, Bernd; Kiesel, Ludwig; Menke, Jan; Gebhardt, Marion; Steinke-Lange, Verena; Rahner, Nils; Lichtenegger, Werner; Zeimet, Alain; Hanf, Volker; Weis, Joachim; Müller, Michael; Henscher, Ulla; Schmutzler, Rita K.; Meindl, Alfons; Hilpert, Felix; Panke, Joan Elisabeth; Strnad, Vratislav; Niehues, Christiane; Dauelsberg, Timm; Niehoff, Peter; Mayr, Doris; Grab, Dieter; Kreissl, Michael; Witteler, Ralf; Schorsch, Annemarie; Mustea, Alexander; Petru, Edgar; Hübner, Jutta; Rose, Anne Derke; Wight, Edward; Tholen, Reina; Bauerschmitz, Gerd J.; Fleisch, Markus; Juhasz-Boess, Ingolf; Sigurd, Lax; Runnebaum, Ingo; Tempfer, Clemens; Nothacker, Monika J.; Bloedt, Susanne; Follmann, Markus; Langer, Thomas; Raatz, Heike; Wesselmann, Simone und Erdogan, Saskia
(2018):
Interdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Nummer 032/034-OL, April 2018) - Part 1 with Recommendations on the Epidemiology, Screening, Diagnosis and Hereditary Factors of Endometrial Cancer.
In: Geburtshilfe und Frauenheilkunde, Bd. 78, Nr. 10: S. 949-970
Kayser, Katrin; Degenhardt, Franziska; Holzapfel, Stefanie; Horpaopan, Sukanya; Peters, Sophia; Spier, Isabel; Morak, Monika; Vangala, Deepak; Rahner, Nils; Knebel Doeberitz, Magnus von; Schackert, Hans K.; Engel, Christoph; Büttner, Reinhard; Wijnen, Juul; Doerks, Tobias; Bork, Peer; Moebus, Susanne; Herms, Stefan; Fischer, Sascha; Hoffmann, Per; Aretz, Stefan und Steinke-Lange, Verena
(2018):
Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes.
In: International Journal of Cancer, Bd. 143, Nr. 11: S. 2800-2813
Engel, Christoph; Vasen, Hans F.; Seppala, Toni; Aretz, Stefan; Bigirwamungu-Bargeman, Marloes; Bör, Sybrand Y. de; Bucksch, Karolin; Buttner, Reinhard; Holinski-Feder, Elke; Holzapfel, Stefanie; Hueneburg, Robert; Jacobs, Maarten A. J. M.; Jarvinen, Heikki; Kloor, Matthias; Knebel Doeberitz, Magnus von; Koornstra, Jan J.; Kouwen, Mariette van; Langers, Alexandra M.; Meeberg, Paul C. van de; Morak, Monika; Moeslein, Gabriela; Nagengast, Fokko M.; Pylvanainen, Kirsi; Rahner, Nils; Renkonen-Sinisalo, Laura; Sanduleanu, Silvia; Schackert, Hans K.; Schmiegel, Wolff; Schulmann, Karsten; Steinke-Lange, Verena; Strassburg, Christian P.; Vecht, Juda; Verhulst, Marie-Louise; Vos Tot Nederveen Cappel, Wouter de; Zachariae, Silke; Mecklin, Jukka-Pekka und Löffler, Markus
(2018):
No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies.
In: Gastroenterology, Bd. 155, Nr. 5: S. 1400-1409
Broeke, Sanne W. ten; Klift, Heleen M. van der; Tops, Carli M. J.; Aretz, Stefan; Bernstein, Inge; Buchanan, Daniel D.; Chapelle, Albert de la; Capella, Gabriel; Clendenning, Mark; Engel, Christoph; Gallinger, Steven; Gomez Garcia, Encarna; Figueiredo, Jane C.; Haile, Robert; Hampel, Heather L.; Hopper, John L.; Hoogerbrugge, Nicoline; Knebel Doeberitz, Magnus von; Le Marchand, Loic; Lettebör, Tom G. W.; Jenkins, Mark A.; Lindblom, Annika; Lindor, Noralane M.; Mensenkamp, Arjen R.; Moller, Pal; Newcomb, Polly A.; Os, Theo A. M. van; Pearlman, Rachel; Pineda, Marta; Rahner, Nils; Redeker, Egbert J. W.; Olderode-Berends, Maran J. W.; Rosty, Christophe; Schackert, Hans K.; Scott, Rodney; Senter, Leigha; Spruijt, Liesbeth; Steinke-Lange, Verena; Suerink, Manon; Thibodeau, Stephen; Vos, Yvonne J.; Wagner, Anja; Winship, Ingrid; Hes, Frederik J.; Vasen, Hans F. A.; Wijnen, Juul T.; Nielsen, Maartje und Win, Aung Ko
(2018):
Cancer Risks for PMS2-Associated Lynch Syndrome.
In: Journal of Clinical Oncology, Bd. 36, Nr. 29: S. 2961-2968
Spier, Isabel; Kerick, Martin; Drichel, Dmitriy; Horpaopan, Sukanya; Altmüller, Janine; Laner, Andreas; Holzapfel, Stefanie; Peters, Sophia; Adam, Ronja; Zhao, Bixiao; Becker, Tim; Lifton, Richard P.; Holinski-Feder, Elke; Perner, Sven; Thiele, Holger; Nöthen, Markus M.; Hoffmann, Per; Timmermann, Bernd; Schweiger, Michal R. und Aretz, Stefan
(2016):
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.
In: Familial Cancer, Bd. 15, Nr. 2: S. 281-288
Adam, Ronja; Spier, Isabel; Zhao, Bixiao; Kloth, Michael; Marquez, Jonathan; Hinrichsen, Inga; Kirfel, Jutta; Tafazzoli, Aylar; Horpaopan, Sukanya; Uhlhaas, Siegfried; Stienen, Dietlinde; Friedrichs, Nicolaus; Altmueller, Janine; Laner, Andreas; Holzapfel, Stefanie; Peters, Sophia; Kayser, Katrin; Thiele, Holger; Holinski-Feder, Elke; Marra, Giancarlo; Kristiansen, Glen; Nöthen, Markus M.; Buettner, Reinhard; Möslein, Gabriela; Betz, Regina C.; Brieger, Angela; Lifton, Richard P. und Aretz, Stefan
(2016):
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
In: American Journal of Human Genetics, Bd. 99, Nr. 2: S. 337-351
Spier, Isabel; Drichel, Dmitriy; Kerick, Martin; Kirfel, Jutta; Horpaopan, Sukanya; Laner, Andreas; Holzapfel, Stefanie; Peters, Sophia; Adam, Ronja; Zhao, Bixiao; Becker, Tim; Lifton, Richard P.; Perner, Sven; Hoffmann, Per; Kristiansen, Glen; Timmermann, Bernd; Nöthen, Markus M.; Holinski-Feder, Elke; Schweiger, Michal R. und Aretz, Stefan
(2016):
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.
In: Journal of Medical Genetics, Bd. 53, Nr. 3: S. 172-179
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