Universität zu Köln

Adam, Ronja, Spier, Isabel, Zhao, Bixiao ORCID: 0000-0002-1775-1690, 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, Noethen, Markus M., Buettner, Reinhard, Moeslein, Gabriela, Betz, Regina C., Brieger, Angela, Lifton, Richard P. and Aretz, Stefan ORCID: 0000-0002-5228-1890 (2016). Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. Am. J. Hum. Genet., 99 (2). S. 337 - 352. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Binder, Hans, Hopp, Lydia, Schweiger, Michal R., Hoffmann, Steve, Juehling, Frank, Kerick, Martin ORCID: 0000-0002-6298-4514, Timmermann, Bernd, Siebert, Susann, Grimm, Christina ORCID: 0000-0002-4676-8870, Nersisyan, Lilit ORCID: 0000-0001-8525-420X, Arakelyan, Arsen ORCID: 0000-0002-6851-1056, Herberg, Maria, Buske, Peter, Loeffler-Wirth, Henry, Rosolowski, Maciej, Engel, Christoph ORCID: 0000-0002-7247-282X, Przybilla, Jens, Peifer, Martin ORCID: 0000-0002-5243-5503, Friedrichs, Nicolaus, Moeslein, Gabriela, Odenthal, Margarete, Hussong, Michelle, Peters, Sophia, Holzapfel, Stefanie, Nattermann, Jacob, Hueneburg, Robert, Schmiegel, Wolff, Royer-Pokora, Brigitte, Aretz, Stefan ORCID: 0000-0002-5228-1890, Kloth, Michael, Kloor, Matthias, Buettner, Reinhard, Galle, Joerg and Loeffler, Markus (2017). Genomic and transcriptomic heterogeneity of colorectal tumours arising in Lynch syndrome. J. Pathol., 243 (2). S. 242 - 255. HOBOKEN: WILEY. ISSN 1096-9896

Bucksch, Karolin ORCID: 0000-0003-4586-4032, 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, Perne, Claudia, Redler, Silke, Schmetz, Ariane, Steinke-Lange, Verena, Surowy, Harald, Vangala, Deepak B., Weitz, Juergen, Loeffler, Markus and Engel, Christoph ORCID: 0000-0002-7247-282X (2022). Adenoma and colorectal cancer risks in Lynch syndrome, Lynch-like syndrome and familial colorectal cancer type X. Int. J. Cancer, 150 (1). S. 56 - 67. HOBOKEN: WILEY. ISSN 1097-0215

Bucksch, Karolin, Zachariae, Silke, Aretz, Stefan, Buettner, Reinhard, Holinski-Feder, Elke, Holzapfel, Stefanie, Hueneburg, Robert, Kloor, Matthias, Doeberitz, Magnus von Knebel, Morak, Monika, Moeslein, Gabriela, Nattermann, Jacob, Perne, Claudia, Rahner, Nils, Schmiegel, Wolff, Schulmann, Karsten, Steinke-Lange, Verena, Strassburg, Christian P., Vangala, Deepak B., Weitz, Juergen, Loeffler, Markus and Engel, Christoph ORCID: 0000-0002-7247-282X (2020). Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study. BMC Cancer, 20 (1). LONDON: BMC. ISSN 1471-2407

Dominguez-Valentin, Mev ORCID: 0000-0001-7856-0057, Crosbie, Emma J., Engel, Christoph, Aretz, Stefan, Macrae, Finlay, Winship, Ingrid, Capella, Gabriel, Thomas, Huw, Nakken, Sigve ORCID: 0000-0001-8468-2050, 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, Cappel, Wouter H. de Vos tot Nederveen, 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 ORCID: 0000-0003-4399-9283, 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, Moeslein, Gabriela, Sampson, Julian R., Evans, D. Gareth, Seppala, Toni T. and Moller, Pal . Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report. Genet. Med.. LONDON: SPRINGERNATURE. ISSN 1530-0366

Dominguez-Valentin, Mev ORCID: 0000-0001-7856-0057, Plazzer, John-Paul ORCID: 0000-0001-5114-4301, Sampson, Julian R., Engel, Christoph ORCID: 0000-0002-7247-282X, Aretz, Stefan ORCID: 0000-0002-5228-1890, Jenkins, Mark A., Sunde, Lone ORCID: 0000-0002-8479-165X, Bernstein, Inge, Capella, Gabriel ORCID: 0000-0002-4669-7320, Balaguer, Francesc ORCID: 0000-0002-0206-0539, Macrae, Finlay, Winship, Ingrid M., Thomas, Huw, Evans, Dafydd Gareth, Burn, John, Greenblatt, Marc, Cappel, Wouter H. de Vos Tot Nederveen, 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 ORCID: 0000-0001-8468-2050, Hovig, Eivind ORCID: 0000-0002-9103-1077, Green, Kate, Lalloo, Fiona, Hill, James, Vasen, Hans F. A., Perne, Claudia, Buettner, Reinhard, Goergens, Heike, Holinski-Feder, Elke, Morak, Monika, Holzapfel, Stefanie, Hueneburg, Robert, Doeberitz, Magnus von Knebel, Loeffler, Markus, Rahner, Nils, Weitz, Juergen, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak ORCID: 0000-0002-4175-5683, Crosbie, Emma J., Pineda, Marta, Navarro, Matilde, Brunet, Joan, Moreira, Leticia ORCID: 0000-0002-4518-8591, Sanchez, Ariadna ORCID: 0000-0003-0409-1328, Serra-Burriel, Miquel ORCID: 0000-0001-8595-1224, Mints, Miriam, Kariv, Revital, Rosner, Guy, Pinero, Tamara Alejandra, Pavicic, Walter Hernan, Kalfayan, Pablo, ten Broeke, Sanne W., Mecklin, Jukka-Pekka, Pylvanainen, Kirsi, Renkonen-Sinisalo, Laura, Lepisto, Anna, Peltomaki, Paivi ORCID: 0000-0001-8819-2980, 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, Moslein, Gabriela, Seppala, Toni T. and 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. J. Clin. Med., 10 (13). BASEL: MDPI. ISSN 2077-0383

Dominguez-Valentin, Mev ORCID: 0000-0001-7856-0057, Sampson, Julian R., Seppala, Toni T. ORCID: 0000-0002-4940-3498, ten Broeke, Sanne W., Plazzer, John-Paul, Nakken, Sigve ORCID: 0000-0001-8468-2050, Engel, Christoph ORCID: 0000-0002-7247-282X, Aretz, Stefan, Jenkins, Mark A., Sunde, Lone ORCID: 0000-0002-8479-165X, Bernstein, Inge ORCID: 0000-0003-4095-432X, Capella, Gabriel ORCID: 0000-0002-4669-7320, Balaguer, Francesc, Thomas, Huw, Evans, D. Gareth, Burn, John ORCID: 0000-0002-9823-2322, Greenblatt, Marc, Hovig, Eivind, de Vos Tot Nederveen Cappel, Wouter H., Sijmons, Rolf H., Bertario, Lucio, Tibiletti, Maria Grazia, Cavestro, Giulia Martina ORCID: 0000-0003-1947-9368, 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, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Schackert, Hans K., Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Pylvanainen, Kirsi ORCID: 0000-0003-4399-9283, 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 ORCID: 0000-0001-8595-1224, Pineda, Marta, Navarro, Matilde, Blanco, Ignacio ORCID: 0000-0002-7414-7481, 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 ORCID: 0000-0001-5349-0267, Kariv, Revital, Rosner, Guy, Pinero, Tamara Alejandra, Gonzalez, Maria Laura, Kalfayan, Pablo, Tjandra, Douglas, Winship, Ingrid M., Macrae, Finlay, Moeslein, Gabriela, Mecklin, Jukka-Pekka ORCID: 0000-0003-4895-2249, Nielsen, Maartje ORCID: 0000-0002-5351-1870 and 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. Genet. Med., 22 (1). S. 15 - 26. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Emons, Guenter, Steiner, Eric, Vordermark, Dirk, Uleer, Christoph, Bock, Nina, Paradies, Kerstin, Ortmann, Olaf, Aretz, Stefan ORCID: 0000-0002-5228-1890, Mallmann, Peter, Kurzeder, Christian, Hagen, Volker, van Oorschot, Birgitt, 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, Mueller, 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, Huebner, Jutta, Rose, Anne Derke, Wight, Edward, Tholen, Reina, Bauerschmitz, Gerd J., Fleisch, Markus, Juhasz-Boess, Ingolf, Lax, Sigurd, Runnebaum, Ingo, Tempfer, Clemens ORCID: 0000-0002-6904-3258, Nothacker, Monika J., Bloedt, Susanne, Follmann, Markus ORCID: 0000-0003-3790-5578, Langer, Thomas, Raatz, Heike, Wesselmann, Simone and 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. Geburtshilfe Frauenheilkd., 78 (11). S. 1089 - 1110. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1438-8804

Emons, Guenter, Steiner, Eric, Vordermark, Dirk, Uleer, Christoph, Bock, Nina, Paradiess, Kerstin, Ortmann, Olaf, Aretz, Stefan ORCID: 0000-0002-5228-1890, Mallmann, Peter, Kurzeder, Christian, Hagen, Volker, van Oorschot, Birgitt, 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, Mueller, 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, Huebner, Jutta, Rose, Anne Derke, Wight, Edward, Tholen, Reina, Bauerschmitz, Gerd J., Fleisch, Markus, Juhasz-Boess, Ingolf, Sigurd, Lax, Runnebaum, Ingo, Tempfer, Clemens ORCID: 0000-0002-6904-3258, Nothacker, Monika J., Bloedt, Susanne, Follmann, Markus ORCID: 0000-0003-3790-5578, Langer, Thomas, Raatz, Heike, Wesselmann, Simone and 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. Geburtshilfe Frauenheilkd., 78 (10). S. 949 - 971. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1438-8804

Engel, Christoph ORCID: 0000-0002-7247-282X, Ahadova, Aysel, Seppala, Toni T. ORCID: 0000-0002-4940-3498, Aretz, Stefan ORCID: 0000-0002-5228-1890, Bigirwamungu-Bargeman, Marloes, Blaeker, Hendrik, Bucksch, Karolin, Buettner, Reinhard, Cappel, Wouter T. De Vos Tot Nederveen, Endris, Volker, Holinski-Feder, Elke, Holzapfel, Stefanie, Hueneburg, Robert, Jacobs, Maarten A. J. M., Koornstra, Jan J., Langers, Alexandra M., Lepisto, Anna, Morak, Monika, Moeslein, Gabriela, Peltomaeki, Paivi, Pylvaenaeinen, Kirsi, Rahner, Nils, Renkonen-Sinisalo, Laura, Schulmann, Karsten, Steinke-Lange, Verena, Stenzinger, Albrecht, Strassburg, Christian P., van de Meeberg, Paul C., van Kouwen, Mariette, van Leerdam, Monique ORCID: 0000-0002-5719-3208, Vangala, Deepak B., Vecht, Juda, Verhulst, Marie-Louise, Doeberitz, Magnus von Knebel, Weitz, Juergen, Zachariae, Silke, Loeffler, Markus, Mecklin, Jukka-Pekka ORCID: 0000-0003-4895-2249, Kloor, Matthias and 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. Gastroenterology, 158 (5). S. 1326 - 1334. PHILADELPHIA: W B SAUNDERS CO-ELSEVIER INC. ISSN 1528-0012

Engel, Christoph ORCID: 0000-0002-7247-282X, Vasen, Hans F., Seppala, Toni, Aretz, Stefan ORCID: 0000-0002-5228-1890, Bigirwamungu-Bargeman, Marloes, de Boer, Sybrand Y., Bucksch, Karolin, Buttner, Reinhard, Holinski-Feder, Elke, Holzapfel, Stefanie, Hueneburg, Robert, Jacobs, Maarten A. J. M., Jarvinen, Heikki, Kloor, Matthias, Doeberitz, Magnus von Knebel, Koornstra, Jan J., van Kouwen, Mariette, Langers, Alexandra M., van de Meeberg, Paul C., Morak, Monika, Moeslein, Gabriela, Nagengast, Fokko M., Pylvanainen, Kirsi ORCID: 0000-0003-4399-9283, 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, Cappel, Wouter de Vos Tot Nederveen, Zachariae, Silke, Mecklin, Jukka-Pekka ORCID: 0000-0003-4895-2249 and Loeffler, Markus (2018). No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies. Gastroenterology, 155 (5). S. 1400 - 1412. PHILADELPHIA: W B SAUNDERS CO-ELSEVIER INC. ISSN 1528-0012

Gallon, Richard ORCID: 0000-0002-5395-0099, Muehlegger, Barbara, Wenzel, Soeren-Sebastian, Sheth, Harsh, Hayes, Christine, Aretz, Stefan ORCID: 0000-0002-5228-1890, Dahan, Karin, Foulkes, William, Kratz, Christian P., Ripperger, Tim, Azizi, Amedeo A., Feldman, Hagit Baris, Chong, Anne-Laure, Demirsoy, Ugur, Florkin, Benoit, Imschweiler, Thomas, Januszkiewicz-Lewandowska, Danuta ORCID: 0000-0003-2332-2750, Lobitz, Stephan ORCID: 0000-0001-5398-0610, Nathrath, Michaela, Pander, Hans-Juergen, Perez-Alonso, Vanesa, Perne, Claudia, Ragab, Iman, Rosenbaum, Thorsten, Rueda, Daniel ORCID: 0000-0002-5377-8890, Seidel, Markus G. ORCID: 0000-0003-0981-8661, Suerink, Manon, Taeubner, Julia, Zimmermann, Stefanie-Yvonne, Zschocke, Johannes, Borthwick, Gillian M., Burn, John, Jackson, Michael S., Santibanez-Koref, Mauro and Wimmer, Katharina (2019). A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes. Hum. Mutat., 40 (5). S. 649 - 656. HOBOKEN: WILEY. ISSN 1098-1004

Horpaopan, Sukanya, Kirfel, Jutta, Peters, Sophia, Kloth, Michael, Hueneburg, Robert, Altmueller, Janine, Drichel, Dmitriy ORCID: 0000-0001-5978-3458, Odenthal, Margarete, Kristiansen, Glen, Strassburg, Christian, Nattermann, Jacob, Hoffmann, Per, Nuernberg, Peter, Buettner, Reinhard, Thiele, Holger, Kahl, Philip, Spier, Isabel and Aretz, Stefan ORCID: 0000-0002-5228-1890 (2017). Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS). Hered. Cancer Clin. Pract., 15. LONDON: BIOMED CENTRAL LTD. ISSN 1897-4287

Horpaopan, Sukanya, Spier, Isabel, Zink, Alexander M., Altmueller, Janine, Holzapfel, Stefanie, Laner, Andreas, Vogt, Stefanie, Uhlhaas, Siegfried, Heilmann, Stefanie, Stienen, Dietlinde, Pasternack, Sandra M., Keppler, Kathleen, Adam, Ronja, Kayser, Katrin, Moebus, Susanne, Draaken, Markus ORCID: 0000-0002-4546-0786, Degenhardt, Franziska, Engels, Hartmut, Hofmann, Andrea, Noethen, Markus M., Steinke, Verena, Perez-Bouza, Alberto, Herms, Stefan ORCID: 0000-0002-2786-8200, Holinski-Feder, Elke, Froehlich, Holger, Thiele, Holger, Hoffmann, Per and Aretz, Stefan ORCID: 0000-0002-5228-1890 (2015). Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis. Int. J. Cancer, 136 (6). S. E578 - 12. HOBOKEN: WILEY. ISSN 1097-0215

Horpaopan, Sukanya, Spier, Isabel, Zink, Alexander M., Altmueller, Janine, Holzapfel, Stefanie, Laner, Andreas, Vogt, Stefanie, Uhlhaas, Siegfried, Heilmann, Stefanie, Stienen, Dietlinde, Pasternack, Sandra M., Keppler, Kathleen, Adam, Ronja, Kayser, Katrin, Moebus, Susanne, Draaken, Markus ORCID: 0000-0002-4546-0786, Degenhardt, Franziska, Engels, Hartmut, Hofmann, Andrea, Noethen, Markus M., Steinke, Verena, Perez-Bouza, Alberto, Herms, Stefan ORCID: 0000-0002-2786-8200, Holinski-Feder, Elke, Froehlich, Holger, Thiele, Holger, Hoffmann, Per and Aretz, Stefan ORCID: 0000-0002-5228-1890 (2015). Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis. Int. J. Cancer, 136 (6). S. E578 - 12. HOBOKEN: WILEY. ISSN 1097-0215

Hueneburg, Robert, Aretz, Stefan ORCID: 0000-0002-5228-1890, Buettner, Reinhard, Daum, Severin, Engel, Christoph ORCID: 0000-0002-7247-282X, Fechner, Guido, Habermann, Jens K., Heling, Dominik, Hoffmann, Katrin, Holinski-Feder, Elke, Kloor, Matthias, von Knebel-Doeberitz, Magnus, Loeffler, 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, Juergen, Wiedenmann, Bertram, Strassburg, Christian P. and Nattermann, Jacob (2019). Current recommendations for surveillance, risk reduction and therapy in Lynch syndrome patients. Z. Gastroent., 57 (11). S. 1309 - 1321. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-7803

Kayser, Katrin, Degenhardt, Franziska, Holzapfel, Stefanie, Horpaopan, Sukanya, Peters, Sophia, Spier, Isabel, Morak, Monika, Vangala, Deepak, Rahner, Nils, von Knebel-Doeberitz, Magnus, Schackert, Hans K., Engel, Christoph ORCID: 0000-0002-7247-282X, Buettner, Reinhard, Wijnen, Juul, Doerks, Tobias, Bork, Peer, Moebus, Susanne, Herms, Stefan ORCID: 0000-0002-2786-8200, Fischer, Sascha, Hoffmann, Per, Aretz, Stefan ORCID: 0000-0002-5228-1890 and Steinke-Lange, Verena (2018). Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes. Int. J. Cancer, 143 (11). S. 2800 - 2814. HOBOKEN: WILEY. ISSN 1097-0215

Kloth, Michael, Ruesseler, Vanessa, Engel, Christoph ORCID: 0000-0002-7247-282X, Koenig, Katharina, Peifer, Martin ORCID: 0000-0002-5243-5503, Mariotti, Erika, Kuenstlinger, Helen, Florin, Alexandra, Rommerscheidt-Fuss, Ursula, Koitzsch, Ulrike, Wodtke, Claudia, Ueckeroth, Frank, Holzapfel, Stefanie, Aretz, Stefan ORCID: 0000-0002-5228-1890, Propping, Peter, Loeffler, Markus, Merkelbach-Bruse, Sabine, Odenthal, Margarete, Friedrichs, Nicolaus, Heukamp, Lukas Carl, Zander, Thomas and Buettner, Reinhard (2016). Activating ERBB2/HER2 mutations indicate susceptibility to pan-HER inhibitors in Lynch and Lynch-like colorectal cancer. Gut, 65 (8). S. 1296 - 1306. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-3288

Ladigan, Swetlana, Vangala, Deepak B., Kuhlkamp, Judith, Pox, Christian, Engel, Christoph, Hueneburg, Robert, Perne, Claudia, Nattermann, Jacob, Steinke-Lange, Verena, Rahner, Nils, Schackert, Hans K., Kloor, Matthias, Strassburg, Christian, Morak, Monika, Holinski-Feder, Elke, Buttner, Reinhard, Aretz, Stefan, Loeffler, Markus, Schmiegel, Wolff H. and Schulmann, Karsten (2018). Value of EGD for gastric cancer surveillance in patients with hereditary non-polyposis colorectal cancer (HNPCC) or Lynch syndrome (LS). J. Clin. Oncol., 36 (15). ALEXANDRIA: AMER SOC CLINICAL ONCOLOGY. ISSN 1527-7755

Ladigan-Badura, Swetlana, Vangala, Deepak B., Engel, Christoph ORCID: 0000-0002-7247-282X, Bucksch, Karolin, Hueneburg, Robert, Perne, Claudia, Nattermann, Jacob, Steinke-Lange, Verena, Rahner, Nils, Schackert, Hans K., Weitz, Juergen, Kloor, Matthias, Kuhlkamp, Judith, Moeslein, Gabriela, Strassburg, Christian, Morak, Monika, Holinski-Feder, Elke, Buettner, Reinhard, Aretz, Stefan, Loeffler, Markus, Schmiegel, Wolff, Pox, Christian and Schulmann, Karsten (2021). Value of uppergastrointestinalendoscopy for gastric cancer surveillance in patients with Lynch syndrome. Int. J. Cancer, 148 (1). S. 106 - 115. HOBOKEN: WILEY. ISSN 1097-0215

Moller, Pal, Seppala, Toni, Dowty, James G., Haupt, Saskia ORCID: 0000-0001-7537-9439, Dominguez-Valentin, Mev, Sunde, Lone ORCID: 0000-0002-8479-165X, Bernstein, Inge, Engel, Christoph ORCID: 0000-0002-7247-282X, 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 ORCID: 0000-0003-4187-1059, 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 ORCID: 0000-0001-9626-0971, 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 ORCID: 0000-0003-4895-2249, Pylvanainen, Kirsi, Renkonen-Sinisalo, Laura, Lepisto, Anna, Peltomaki, Paivi, Therkildsen, Christina, Lindberg, Lars Joachim, Thorlacius-Ussing, Ole ORCID: 0000-0003-4963-1551, von Knebel Doeberitz, Magnus, 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 ORCID: 0000-0002-6054-6692, Guillen-Ponce, Carmen, Snyder, Carrie, Lautrup, Charlotte K., Amor, David ORCID: 0000-0001-7191-8511, Palmero, Edenir ORCID: 0000-0003-1904-2158, 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 ORCID: 0000-0002-7918-4003, Senter, Leigha, Rasmussen, Lene J., van Hest, Liselotte P., 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, van Overeem Hansen, Thomas, Caldes, Trinidad, Yamaguchi, Tatsuro ORCID: 0000-0001-8454-1995, 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 ORCID: 0000-0001-8468-2050, Pineda, Marta, Duenas, Nuria, Brunet, Joan ORCID: 0000-0003-1945-3512, 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. and 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. Hered. Cancer Clin. Pract., 20 (1). LONDON: BMC. ISSN 1897-4287

Perne, Claudia, Peters, Sophia, Cartolano, Maria, Horpaopan, Sukanya, Grimm, Christina, Altmuller, Janine, Sommer, Anna K., Hillmer, Axel M., Thiele, Holger, Odenthal, Margarete, Moeslein, Gabriela, Adam, Ronja, Sivalingam, Sugirthan, Kirfel, Jutta, Schweiger, Michal R., Peifer, Martin, Spier, Isabel and Aretz, Stefan (2021). Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis. PLoS One, 16 (11). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Seppala, Toni T., Dominguez-Valentin, Mev, Crosbie, Emma J., Engel, Christoph ORCID: 0000-0002-7247-282X, Aretz, Stefan ORCID: 0000-0002-5228-1890, Macrae, Finlay, Winship, Ingrid, Capella, Gabriel, Thomas, Huw, Hovig, Eivind ORCID: 0000-0002-9103-1077, 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 ORCID: 0000-0002-4175-5683, 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 ORCID: 0000-0002-8479-165X, Bernstein, Inge, Burn, John, Greenblatt, Marc, Cappel, Wouter H. de Vos Tot Nederveen, Della Valle, Adriana, Lopez-Koestner, Francisco, Alvarez, Karin, Buettner, Reinhard, Goergens, Heike, Morak, Monika, Holzapfel, Stefanie, Hueneburg, Robert, Doeberitz, Magnus von Knebel, Loeffler, Markus, Redler, Silke, Weitz, Jurgen, 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, Moeslein, Gabriela, Rokkones, Erik, Sampson, Julian R., Evans, D. G. and Moller, Pal (2021). Uptake of hysterectomy and bilateral salpingooophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report. Eur. J. Cancer, 148. S. 124 - 134. OXFORD: ELSEVIER SCI LTD. ISSN 1879-0852

Spier, Isabel, Drichel, Dmitriy ORCID: 0000-0001-5978-3458, Kerick, Martin ORCID: 0000-0002-6298-4514, Kirfel, Jutta, Horpaopan, Sukanya, Laner, Andreas, Holzapfel, Stefanie, Peters, Sophia, Adam, Ronja, Zhao, Bixiao ORCID: 0000-0002-1775-1690, Becker, Tim, Lifton, Richard P., Perner, Sven, Hoffmann, Per, Kristiansen, Glen, Timmermann, Bernd, Noethen, Markus M., Holinski-Feder, Elke, Schweiger, Michal R. and Aretz, Stefan ORCID: 0000-0002-5228-1890 (2016). Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. J. Med. Genet., 53 (3). S. 172 - 180. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Spier, Isabel, Holzapfel, Stefanie, Altmueller, Janine, Zhao, Bixiao ORCID: 0000-0002-1775-1690, Horpaopan, Sukanya, Vogt, Stefanie, Chen, Sophia, Morak, Monika, Raeder, Susanne, Kayser, Katrin, Stienen, Dietlinde, Adam, Ronja, Nuernberg, Peter, Plotz, Guido, Holinski-Feder, Elke, Lifton, Richard P., Thiele, Holger, Hoffmann, Per, Steinke, Verena and Aretz, Stefan ORCID: 0000-0002-5228-1890 (2015). Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. Int. J. Cancer, 137 (2). S. 320 - 332. HOBOKEN: WILEY-BLACKWELL. ISSN 1097-0215

Spier, Isabel, Kerick, Martin ORCID: 0000-0002-6298-4514, Drichel, Dmitriy ORCID: 0000-0001-5978-3458, Horpaopan, Sukanya, Altmueller, Janine, Laner, Andreas, Holzapfel, Stefanie, Peters, Sophia, Adam, Ronja, Zhao, Bixiao ORCID: 0000-0002-1775-1690, Becker, Tim, Lifton, Richard P., Holinski-Feder, Elke, Perner, Sven, Thiele, Holger, Noethen, Markus M., Hoffmann, Per, Timmermann, Bernd, Schweiger, Michal R. and Aretz, Stefan ORCID: 0000-0002-5228-1890 (2016). Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis. Fam. Cancer, 15 (2). S. 281 - 289. DORDRECHT: SPRINGER. ISSN 1573-7292

Tempfer, Clemens, Steinke-Lange, Verena, Aretz, Stefan, Schmutzler, Rita, Ortmann, Olaf, Roemer, Thomas, Hanf, Volker, Widhalm, Simone, Reents, Nicola, Jud, Sebastian, Kommoss, Stefan, Nothacker, Monika and Bloedt, Susanne (2022). Epidemiology, risk factors, and genetics of endometrial cancer. Gynakologie, 55 (7). S. 470 - 481. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 2731-7110

Vangala, Deepak B., Ladigan-Badura, Swetlana, Engel, Christoph ORCID: 0000-0002-7247-282X, Hueneburg, Robert, Perne, Claudia, Bucksch, Karolin ORCID: 0000-0003-4586-4032, Nattermann, Jacob, Steinke-Lange, Verena ORCID: 0000-0001-8491-3234, Rahner, Nils, Weitz, Juergen, Kloor, Matthias, Tomann, Judith, Canbay, Ali, Strassburg, Christian, Moeslein, Gabriele, Morak, Monika, Holinski-Feder, Elke, Buettner, Reinhard, Aretz, Stefan ORCID: 0000-0002-5228-1890, Loeffler, Markus, Schmiegel, Wolff, Pox, Christian and Schulmann, Karsten (2021). Early detection of duodenal cancer by upper gastrointestinal-endoscopy in Lynch syndrome. Int. J. Cancer, 149 (12). S. 2052 - 2063. HOBOKEN: WILEY. ISSN 1097-0215

Vangala, Deepak B., Pox, Christian, Ladigan, Swetlana, Engel, Christoph, Hueneburg, Robert, Perne, Claudia, Steinke-Lange, Verena, Rahner, Nils, Schackert, Hans K., Kloor, Matthias, Holzapfel, Stefanie, Kuhlkamp, Judith, Strassburg, Christian, Morak, Monika, Holinski-Feder, Elke, Buettner, Reinhard, Aretz, Stefan, Loeffler, Markus, Schmiegel, Wolff H. and Schulmann, Karsten (2018). Clinical characteristics and EGD surveillance in Lynch-syndrome patients with small bowel/duodenal carcinomas. J. Clin. Oncol., 36 (15). ALEXANDRIA: AMER SOC CLINICAL ONCOLOGY. ISSN 1527-7755