Zobrazeno 1 - 10
of 70
pro vyhledávání: '"Monika Morak"'
Autor:
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
Publikováno v:
BMC Cancer, Vol 20, Iss 1, Pp 1-11 (2020)
Abstract Background Individuals with pathogenic germline variants in DNA mismatch repair (MMR) genes are at increased risk of developing colorectal, endometrial and other cancers (Lynch syndrome, LS). While previous studies have extensively described
Externí odkaz:
https://doaj.org/article/7a79a4124bf24cb6aed667604ef06d07
Autor:
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
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 17, Iss 1, Pp 1-8 (2019)
Abstract Background Recent epidemiological evidence shows that colorectal cancer (CRC) continues to occur in carriers of pathogenic mismatch repair (path_MMR) variants despite frequent colonoscopy surveillance in expert centres. This observation conf
Externí odkaz:
https://doaj.org/article/5e7cff12646841c9a57d26447ff46ded
Autor:
Bryony A. Thompson, Rhiannon Walters, Michael T. Parsons, Troy Dumenil, Mark Drost, Yvonne Tiersma, Noralane M. Lindor, Sean V. Tavtigian, Niels de Wind, Amanda B. Spurdle, the InSiGHT Variant Interpretation Committee, Fahd Al-Mulla, Daniel Buchanan, Susan Farrington, Ian Frayling, Maurizio Genuardi, Elke Holinski-Feder, Maija R. J. Kohonen-Corish, Andreas Laner, Alexandra Martins, Finlay Macrae, Pål Møller, Monika Morak, Elisabet Ognedal, John-Paul Plazzer, Lene Juel Rasmussen, Carli Tops
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Functional assays that assess mRNA splicing can be used in interpretation of the clinical significance of sequence variants, including the Lynch syndrome-associated mismatch repair (MMR) genes. The purpose of this study was to investigate the contrib
Externí odkaz:
https://doaj.org/article/9cc3036b8517473a900b9588e8069c13
Autor:
Mev Dominguez-Valentin, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M. Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-19 (2018)
Abstract Background The genetic mechanisms for families who meet the clinical criteria for Lynch syndrome (LS) but do not carry pathogenic variants in the mismatch repair (MMR) genes are still undetermined. We aimed to study the potential contributio
Externí odkaz:
https://doaj.org/article/a471ced28e4c4bb7ac5c073ec240e25d
Autor:
Mev Dominguez-Valentin, D. Gareth R. Evans, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M. Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 16, Iss 1, Pp 1-14 (2018)
Abstract Background In kindreds carrying path_BRCA1/2 variants, some women in these families will develop cancer despite testing negative for the family’s pathogenic variant. These families may have additional genetic variants, which not only may i
Externí odkaz:
https://doaj.org/article/6deea8d410b04800addd158ba179a27c
Autor:
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
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 15, Iss 1, Pp 1-10 (2017)
Abstract Background We have previously reported a high incidence of colorectal cancer (CRC) in carriers of pathogenic MLH1 variants (path_MLH1) despite follow-up with colonoscopy including polypectomy. Methods The cohort included Finnish carriers enr
Externí odkaz:
https://doaj.org/article/fa96c2aaea2f442f83f380ff0ada1046
Autor:
Maura Carrai, Verena Steinke, Pavel Vodicka, Barbara Pardini, Nils Rahner, Elke Holinski-Feder, Monika Morak, Hans K Schackert, Heike Görgens, Susanne Stemmler, Beate Betz, Matthias Kloor, Christoph Engel, Reinhard Büttner, Alessio Naccarati, Ludmila Vodickova, Jan Novotny, Angelika Stein, Kari Hemminki, Peter Propping, Asta Försti, Federico Canzian, Roberto Barale, Daniele Campa
Publikováno v:
PLoS ONE, Vol 6, Iss 6, p e20464 (2011)
Molecular sensing in the lingual mucosa and in the gastro-intestinal tract play a role in the detection of ingested harmful drugs and toxins. Therefore, genetic polymorphisms affecting the capability of initiating these responses may be critical for
Externí odkaz:
https://doaj.org/article/aef545cb8a254181b4471e7b06bbe518
Autor:
Robert Hüneburg, Deepak Vangala, Huu Phuc Nguyen, Silke Redler, Swetlana Ladigan-Badura, Claudia Perne, Markus Loeffler, Aysel Ahadova, Gabriela Moeslein, Ariane Schmetz, Karolin Bucksch, Harald Surowy, Silke Zachariae, Christoph Engel, Matthias Kloor, Reinhard Büttner, Jürgen Weitz, Stefan Aretz, Magnus von Knebel Doeberitz, Elke Holinski-Feder, Jacob Nattermann, Verena Steinke-Lange, Monika Morak, Heike Görgens
Publikováno v:
International Journal of Cancer. 150:56-66
Lynch syndrome (LS), Lynch-like syndrome (LLS), and familial colorectal cancer type X (FCCX) are different entities of familial cancer predisposition leading to an increased risk of colorectal cancer (CRC). The aim of this prospective study was to ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::871995e375f9a6cd7de71d0924c92752
https://doi.org/10.1002/ijc.33790
https://doi.org/10.1002/ijc.33790
Autor:
Vincent Schwenk, Rafaela Magalhaes Leal Silva, Florentine Scharf, Katharina Knaust, Martin Wendlandt, Tanja Häusser, Julia M A Pickl, Verena Steinke-Lange, Andreas Laner, Monika Morak, Elke Holinski-Feder, Dieter A Wolf
Publikováno v:
Journal of medical genetics.
PurposeWhereas most human genes encode multiple mRNA isoforms with distinct function, clinical workflows for assessing this heterogeneity are not readily available. This is a substantial shortcoming, considering that up to 25% of disease-causing gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e0a32adee5841cf680b666e824db8a2
https://pubmed.ncbi.nlm.nih.gov/36593122
https://pubmed.ncbi.nlm.nih.gov/36593122
Autor:
Matthias Kloor, Jürgen Weitz, Jacob Nattermann, Monika Morak, Stefan Aretz, Gabriela Moeslein, Swetlana Ladigan-Badura, Deepak Vangala, Huu Phuc Nguyen, Reinhard Buettner, Claudia Perne, Christian Pox, Verena Steinke-Lange, Karsten Schulmann, Hans K. Schackert, Elke Holinski-Feder, Wolff Schmiegel, Karolin Bucksch, Markus Loeffler, Judith Kuhlkamp, Nils Rahner, Robert Hueneburg, Christian P. Strassburg, Christoph Engel
Publikováno v:
International Journal of Cancer. 148:106-114
In our study, we evaluated the effectiveness of upper gastrointestinal (GI) endoscopy as an instrument for early gastric cancer (GC) detection in Lynch syndrome (LS) patients by analyzing data from the registry of the \(\textit {German Consortium for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72d4e94c977f36a987dce05df7758415
https://doi.org/10.1002/ijc.33294
https://doi.org/10.1002/ijc.33294