Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system

Authors: Anna Benet-Pagès, Andreas Laner, Luis R. Nassar, Tobias Wohlfrom, Verena Steinke-Lange, Maximilian Haeussler, Elke Holinski-Feder

Source: Genetics in Medicine Open, Vol 3, Iss , Pp 101961- (2025)

Subject Terms: BRCA1, BRCA2, ENIGMA, UCSC Genome Browser, VUS, Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424011075; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/61a183d2e68942a29a62183307ada6ed

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

Authors: 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)

Source: Hereditary Cancer in Clinical Practice, Vol 21, Iss 1, Pp 1-12 (2023)

Subject Terms: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1897-4287

Access URL: https://doaj.org/article/952d37829e8040c192582717c1ee47f5

Wnt genes in colonic polyposis predisposition

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

Source: Genes and Diseases, Vol 10, Iss 3, Pp 753-757 (2023)

Subject Terms: Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352304222003257; https://doaj.org/toc/2352-3042

Access URL: https://doaj.org/article/6d5ba9489029433d87b24a830388dc13

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

Authors: 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)

Source: Hereditary Cancer in Clinical Practice, Vol 20, Iss 1, Pp 1-11 (2022)

Subject Terms: Lynch Syndrome, Epidemiology, Prevention, Penetrance, Colorectal cancer, Segregation analysis, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1897-4287

Access URL: https://doaj.org/article/b931c1477d4f40ef8fbc4e978abfdf69

Somatic copy number alteration and fragmentation analysis in circulating tumor DNA for cancer screening and treatment monitoring in colorectal cancer patients

Authors: Ariane Hallermayr, Tobias Wohlfrom, Verena Steinke-Lange, Anna Benet-Pagès, Florentine Scharf, Ellen Heitzer, Ulrich Mansmann, Christopher Haberl, Maike de Wit, Holger Vogelsang, Markus Rentsch, Elke Holinski-Feder, Julia M. A. Pickl

Source: Journal of Hematology & Oncology, Vol 15, Iss 1, Pp 1-14 (2022)

Subject Terms: ctDNA, Colorectal cancer, Liquid biopsy, Whole-genome sequencing, Somatic copy number alterations, cfDNA fragmentation, Diseases of the blood and blood-forming organs, RC633-647.5, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://doaj.org/toc/1756-8722

Access URL: https://doaj.org/article/0efaedafd6e94b90ae2a7a9642900c92

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

Authors: Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Elizabeth Alexander, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Jr., Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump

Source: HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)

Subject Terms: TSPEAR, Ectodermal dysplasia, Enamel knot, WNT10A, Hypodontia, Conical teeth, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247723000180; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/2978ae9e34b04565adb7415c6d46eb52

Highly sensitive liquid biopsy Duplex sequencing complements tissue biopsy to enhance detection of clinically relevant genetic variants

Authors: Ariane Hallermayr, Teresa M. Neuhann, Verena Steinke-Lange, Florentine Scharf, Andreas Laner, Roland Ewald, Ben Liesfeld, Elke Holinski-Feder, Julia M. A. Pickl

Source: Frontiers in Oncology, Vol 12 (2022)

Subject Terms: liquid biopsy, tissue biopsy, circulating tumor DNA, analytical validation, Duplex sequencing, cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2022.1014592/full; https://doaj.org/toc/2234-943X

Access URL: https://doaj.org/article/8a2c3251a2a24700811c9875987e1cce

HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death

Authors: Ulrike Schön, Anna Holzer, Andreas Laner, Stephanie Kleinle, Florentine Scharf, Anna Benet-Pagès, Oliver Peschel, Elke Holinski-Feder, Isabel Diebold

Source: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-9 (2021)

Subject Terms: Sudden unexplained death, Molecular autopsy, HPO, Variant interpretation, Whole exome sequencing, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/08a11a22f2ea42599a42a39be34627aa

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

Authors: 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

Source: BMC Cancer, Vol 20, Iss 1, Pp 1-11 (2020)

Subject Terms: Lynch syndrome, Lynch-like syndrome, Familial colorectal cancer type X, Cancer risk, Prospective surveillance study, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12885-020-06926-x; https://doaj.org/toc/1471-2407

Access URL: https://doaj.org/article/7a79a4124bf24cb6aed667604ef06d07

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

Authors: 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

Source: Hereditary Cancer in Clinical Practice, Vol 17, Iss 1, Pp 1-6 (2019)

Subject Terms: Lynch syndrome, Survival, Colonoscopy, Surveillance, Cancer stage, Colon cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13053-019-0127-3; https://doaj.org/toc/1897-4287

Access URL: https://doaj.org/article/4ac58fe8db1a436aa483dbd310b61d26

Beta-2-microglobulin Mutations Are Linked to a Distinct Metastatic Pattern and a Favorable Outcome in Microsatellite-Unstable Stage IV Gastrointestinal Cancers

Authors: Elena Busch, Aysel Ahadova, Kosima Kosmalla, Lena Bohaumilitzky, Pauline L. Pfuderer, Alexej Ballhausen, Johannes Witt, Jan-Niklas Wittemann, Hendrik Bläker, Elke Holinski-Feder, Dirk Jäger, Magnus von Knebel Doeberitz, Georg Martin Haag, Matthias Kloor

Source: Frontiers in Oncology, Vol 11 (2021)

Subject Terms: MSI cancer, metastatic pattern, immune checkpoint blockade, B2M mutation, prognosis, therapy response, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2021.669774/full; https://doaj.org/toc/2234-943X

Access URL: https://doaj.org/article/af5a317a8a3c4eed9d3bbbffc9e6c45c

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation

Authors: 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

Source: Frontiers in Genetics, Vol 11 (2020)

Subject Terms: mismatch repair genes, splicing aberrations, variant interpretation and classification, variant type, Lynch syndrome, mRNA splicing, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2020.00798/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/9cc3036b8517473a900b9588e8069c13

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

Authors: 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

Source: Hereditary Cancer in Clinical Practice, Vol 17, Iss 1, Pp 1-8 (2019)

Subject Terms: Mismatch repair, Microsatellite instability, Lynch syndrome, Hereditary cancer, Colorectal cancer, Hereditary nonpolyposis colorectal cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13053-019-0106-8; https://doaj.org/toc/1897-4287

Access URL: https://doaj.org/article/5e7cff12646841c9a57d26447ff46ded

Identification of genetic variants for clinical management of familial colorectal tumors

Authors: 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

Source: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-19 (2018)

Subject Terms: Lynch syndrome, Gene panel testing, CHEK2, RNA splicing mutations, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-018-0533-9; https://doaj.org/toc/1471-2350

Access URL: https://doaj.org/article/a471ced28e4c4bb7ac5c073ec240e25d

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds

Authors: 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

Source: Hereditary Cancer in Clinical Practice, Vol 16, Iss 1, Pp 1-14 (2018)

Subject Terms: BRCA1, BRCA2, Breast cancer, Gene panel testing, RNA splicing, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13053-018-0086-0; https://doaj.org/toc/1897-4287

Access URL: https://doaj.org/article/6deea8d410b04800addd158ba179a27c

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

Authors: 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

Source: Hereditary Cancer in Clinical Practice, Vol 15, Iss 1, Pp 1-10 (2017)

Subject Terms: Lynch syndrome, Hereditary non-polyposis colorectal cancer, Colorectal cancer, Microsatellite instability, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13053-017-0078-5; https://doaj.org/toc/1897-4287

Access URL: https://doaj.org/article/fa96c2aaea2f442f83f380ff0ada1046

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

Authors: Andreas Rump, Anna Benet-Pages, Steffen Schubert, Jan Dominik Kuhlmann, Ramūnas Janavičius, Eva Macháčková, Lenka Foretová, Zdenek Kleibl, Filip Lhota, Petra Zemankova, Elitza Betcheva-Krajcir, Luisa Mackenroth, Karl Hackmann, Janin Lehmann, Anke Nissen, Nataliya DiDonato, Romy Opitz, Holger Thiele, Karin Kast, Pauline Wimberger, Elke Holinski-Feder, Steffen Emmert, Evelin Schröck, Barbara Klink

Source: PLoS Genetics, Vol 12, Iss 8, p e1006248 (2016)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1006248&type=printable; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/83403414084b4f70a80d691c919fb0d8

Association between TAS2R38 gene polymorphisms and colorectal cancer risk: a case-control study in two independent populations of Caucasian origin.

Authors: 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

Source: PLoS ONE, Vol 6, Iss 6, p e20464 (2011)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21674048/?tool=EBI; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/aef545cb8a254181b4471e7b06bbe518

Deletions Account for 17% of Pathogenic Germline Alterations in MLH1 and MSH2 in Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Families.

Authors: Monika Grabowski, Yvonne Mueller-Koch, Eva Grasbon-Frodl, Udo Koehler, Gisela Keller, Holger Vogelsang, Wolfgang Dietmaier, Reinhard Kopp, Ulrike Siebers, Wolfgang Schmitt, Birgit Neitzel, Maria Gruber, Christa Doerner, Brigitte Kerker, Petra Ruemmele, Gabriele Henke, Elke Holinski-Feder

Source: Genetic Testing; Summer2005, Vol. 9 Issue 2, p138-146, 9p

Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: A population-based study in northern Sweden.

Authors: Kristina Cederquist, Monica Emanuelsson, Ingela Göransson, Elke Holinski-Feder, Yvonne Müller-Koch, Irina Golovleva, Henrik Grönberg

Source: International Journal of Cancer; 4/10/2004, Vol. 109 Issue 3, p370-376, 7p

Subject Terms: COLON cancer, CANCER genetics, GENETIC mutation, MICROSATELLITE repeats