Overview of the Clinical Features of Li-Fraumeni Syndrome and the Current European ERN GENTURIS Guideline

por Kratz, Christian Peter, Steinke-Lange, Verena, Spier, Isabel, Aretz, Stefan, Schröck, Evelin, Holinski-Feder, Elke
Publicado 2021

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes

por Henn, Jonas, Spier, Isabel, Adam, Ronja S., Holzapfel, Stefanie, Uhlhaas, Siegfried, Kayser, Katrin, Plotz, Guido, Peters, Sophia, Aretz, Stefan
Publicado 2019

Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

por Begemann, Matthias, Spengler, Sabrina, Gogiel, Magdalena, Grasshoff, Ute, Bonin, Michael, Betz, Regina C, Dufke, Andreas, Spier, Isabel, Eggermann, Thomas
Publicado 2012

Hereditary Diffuse Gastric Cancer: A Comparative Cohort Study According to Pathogenic Variant Status

por Marwitz, Tim, Hüneburg, Robert, Spier, Isabel, Lau, Jan-Frederic, Kristiansen, Glen, Lingohr, Philipp, Kalff, Jörg C., Aretz, Stefan, Nattermann, Jacob, Strassburg, Christian P.
Publicado 2020

Genetic alterations of TP53 and OTX2 indicate increased risk of relapse in WNT medulloblastomas

por Goschzik, Tobias, Mynarek, Martin, Doerner, Evelyn, Schenk, Alina, Spier, Isabel, Warmuth-Metz, Monika, Bison, Brigitte, Obrecht, Denise, Struve, Nina, Kortmann, Rolf-Dieter, Schmid, Matthias, Aretz, Stefan, Rutkowski, Stefan, Pietsch, Torsten
Publicado 2022

Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS)

por Horpaopan, Sukanya, Kirfel, Jutta, Peters, Sophia, Kloth, Michael, Hüneburg, Robert, Altmüller, Janine, Drichel, Dmitriy, Odenthal, Margarete, Kristiansen, Glen, Strassburg, Christian, Nattermann, Jacob, Hoffmann, Per, Nürnberg, Peter, Büttner, Reinhard, Thiele, Holger, Kahl, Philip, Spier, Isabel, Aretz, Stefan
Publicado 2017

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

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

Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence

por Hassanin, Emadeldin, Spier, Isabel, Bobbili, Dheeraj R., Aldisi, Rana, Klinkhammer, Hannah, David, Friederike, Dueñas, Nuria, Hüneburg, Robert, Perne, Claudia, Brunet, Joan, Capella, Gabriel, Nöthen, Markus M., Forstner, Andreas J., Mayr, Andreas, Krawitz, Peter, May, Patrick, Aretz, Stefan, Maj, Carlo
Publicado 2023

MTHFR C677T and A1298C polymorphism’s effect on risk of colorectal cancer in Lynch syndrome

por Wiik, Mariann Unhjem, Negline, Mia, Beisvåg, Vidar, Clapham, Matthew, Holliday, Elizabeth, Dueñas, Nuria, Brunet, Joan, Pineda, Marta, Bonifaci, Nuria, Aretz, Stefan, Klinkhammer, Hannah, Spier, Isabel, Perne, Claudia, Mayr, Andreas, Valle, Laura, Lubinski, Jan, Sjursen, Wenche, Scott, Rodney J., Talseth-Palmer, Bente A.
Publicado 2023

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 p...

por Blatter, Robert, Tschupp, Benjamin, Aretz, Stefan, Bernstein, Inge, Colas, Chrystelle, Evans, D. Gareth, Genuardi, Maurizio, Hes, Frederik J., Hüneburg, Robert, Järvinen, Heikki, Lalloo, Fiona, Moeslein, Gabriela, Renkonen-Sinisalo, Laura, Resta, Nicoletta, Spier, Isabel, Varvara, Dora, Vasen, Hans, Latchford, Andrew R., Heinimann, Karl
Publicado 2020

mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion

por Taylor, Henry, Yerlioglu, Dilay, Phen, Claudia, Ballauff, Antje, Nedelkopoulou, Natalia, Spier, Isabel, Loverdos, Inés, Busoni, Veronica B, Heise, Jürgen, Dale, Peter, de Meij, Tim, Sweet, Kevin, Cohen, Marta C, Fox, Victor L, Mas, Emmanuel, Aretz, Stefan, Eng, Charis, Buderus, Stephan, Thomson, Mike, Rojas, Isabel, Uhlig, Holm H
Publicado 2021

Wnt genes in colonic polyposis predisposition

por Quintana, Isabel, Terradas, Mariona, Mur, Pilar, te Paske, Iris B.A.W., Peters, Sophia, Spier, Isabel, Steinke-Lange, Verena, Maestro, Claudia, Torrents, David, Puiggròs, Montserrat, Royo, Romina, Tonda, Raul, Parra, Genís, Piscia, Davide, Beltrán, Sergi, Navarro, Matilde, Piñol, Virginia, Brunet, Joan, Gonzalez-Abuin, Noemi, Aiza, Gemma, Sommer, Anna, van Herwaarden, Yasmijn, Astuti, Galuh, Holinski-Feder, Elke, Hoogerbrugge, Nicoline, de Voer, Richarda M., Aretz, Stefan, Capellá, Gabriel, Valle, Laura
Publicado 2022

Germline mutations in WNK2 could be associated with serrated polyposis syndrome

por 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, te Paske, Iris B A W, van Herwaarden, Yasmijn J, 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, de Voer, Richarda, Buchanan, Daniel D, Aretz, Stefan, Ruiz-Ponte, Clara, Valle, Laura, Balaguer, Francesc, Bonjoch, Laia, Castellvi-Bel, Sergi
Publicado 2023

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk...

por Garcia-Pelaez, José, Barbosa-Matos, Rita, Lobo, Silvana, Dias, Alexandre, Garrido, Luzia, Castedo, Sérgio, Sousa, Sónia, Pinheiro, Hugo, Sousa, Liliana, Monteiro, Rita, Maqueda, Joaquin J, Fernandes, Susana, Carneiro, Fátima, Pinto, Nádia, Lemos, Carolina, Pinto, Carla, Teixeira, Manuel R, Aretz, Stefan, Bajalica-Lagercrantz, Svetlana, Balmaña, Judith, Blatnik, Ana, Benusiglio, Patrick R, Blanluet, Maud, Bours, Vincent, Brems, Hilde, Brunet, Joan, Calistri, Daniele, Capellá, Gabriel, Carrera, Sergio, Colas, Chrystelle, Dahan, Karin, de Putter, Robin, Desseignés, Camille, Domínguez-Garrido, Elena, Egas, Conceição, Evans, D Gareth, Feret, Damien, Fewings, Eleanor, Fitzgerald, Rebecca C, Coulet, Florence, Garcia-Barcina, María, Genuardi, Maurizio, Golmard, Lisa, Hackmann, Karl, Hanson, Helen, Holinski-Feder, Elke, Hüneburg, Robert, Krajc, Mateja, Lagerstedt-Robinson, Kristina, Lázaro, Conxi, Ligtenberg, Marjolijn J L, Martínez-Bouzas, Cristina, Merino, Sonia, Michils, Geneviève, Novaković, Srdjan, Patiño-García, Ana, Ranzani, Guglielmina Nadia, Schröck, Evelin, Silva, Inês, Silveira, Catarina, Soto, José L, Spier, Isabel, Steinke-Lange, Verena, Tedaldi, Gianluca, Tejada, María-Isabel, Woodward, Emma R, Tischkowitz, Marc, Hoogerbrugge, Nicoline, Oliveira, Carla
Publicado 2023