Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Autor: Thompson, Bryony A, Spurdle, Amanda B, Plazzer, John-Paul, Greenblatt, Marc S, Akagi, Kiwamu, Al-Mulla, Fahd, Bapat, Bharati, Bernstein, Inge, Capellá, Gabriel, den Dunnen, Johan T, du Sart, Desiree, Fabre, Aurelie, Farrell, Michael P, Farrington, Susan M, Frayling, Ian M, Frebourg, Thierry, Goldgar, David E, Heinen, Christopher D, Holinski-Feder, Elke, Kohonen-Corish, Maija, Robinson, Kristina Lagerstedt, Leung, Suet Yi, Martins, Alexandra, Moller, Pal, Morak, Monika, Nystrom, Minna, Peltomaki, Paivi, Pineda, Marta, Qi, Ming, Ramesar, Rajkumar, Rasmussen, Lene Juel, Royer-Pokora, Brigitte, Scott, Rodney J, Sijmons, Rolf, Tavtigian, Sean V, Tops, Carli M, Weber, Thomas, Wijnen, Juul, Woods, Michael O, Macrae, Finlay, Genuardi, Maurizio, Castillejo, Adela, Sexton, Adrienne, Chan, Anthony K W, Viel, Alessandra, Blanco, Amie, French, Amy, Laner, Andreas, Wagner, Anja, van den Ouweland, Ans, Mensenkamp, Arjen, Payá, Artemio, Betz, Beate, Redeker, Bert, Smith, Betsy, Espenschied, Carin, Cummings, Carole, Engel, Christoph, Fornes, Claudia, Valenzuela, Cristian, Alenda, Cristina, Buchanan, Daniel, Barana, Daniela, Konstantinova, Darina, Cairns, Dianne, Glaser, Elizabeth, Silva, Felipe, Lalloo, Fiona, Crucianelli, Francesca, Hogervorst, Frans, Casey, Graham, Tomlinson, Ian, Blanco, Ignacio, Villar, Isabel López, Garcia-Planells, Javier, Bigler, Jeanette, Shia, Jinru, Martinez-Lopez, Joaquin, Gille, Johan J P, Hopper, John, Potter, John, Soto, José Luis, Kantelinen, Jukka, Ellis, Kate, Mann, Kirsty, Varesco, Liliana, Zhang, Liying, Le Marchand, Loic, Marafie, Makia J, Nordling, Margareta, Tibiletti, Maria Grazia, Kahan, Mariano Ariel, Ligtenberg, Marjolijn, Clendenning, Mark, Jenkins, Mark, Speevak, Marsha, Digweed, Martin, Kloor, Matthias, Hitchins, Megan, Myers, Megan, Aronson, Melyssa, Valentin, Mev Dominguez, Kutsche, Michael, Parsons, Michael, Walsh, Michael, Kansikas, Minttu, Zahary, Mohd Nizam, Pedroni, Monica, Heider, Nao, Poplawski, Nicola, Rahner, Nils, Lindor, Noralane M, Sala, Paola, Nan, Peng, Propping, Peter, Newcomb, Polly, Sarin, Rajiv, Haile, Robert, Hofstra, Robert, Ward, Robyn, Tricarico, Rossella, Bacares, Ruben, Young, Sean, Chialina, Sergio, Kovalenko, Serguei, Gunawardena, Shanaka R, Moreno, Sira, Ho, Siu Lun, Yuen, Siu Tsan, Thibodeau, Stephen N, Gallinger, Steve, Burnett, Terrilea, Teitsch, Therese, Chan, Tsun Leung, Smyrk, Tom, Cranston, Treena, Psofaki, Vasiliki, Steinke-Lange, Verena, Barbera, Victor-Manuel

Publikováno v: Recercat. Dipósit de la Recerca de Catalunya
instname
Nature Genetics
Nature Genetics, Nature Publishing Group, 2014, 46 (2), pp.107-115. ⟨10.1038/ng.2854⟩
Nature Genetics, 46(2), 107
Nature Genetics, 46, 107-15
Nature genetics, 46(2), 107-115. Nature Publishing Group
Nature Genetics, 46(2), 107-+. Nature Publishing Group
Thompson, B A, Spurdle, A B, Plazzer, J-P, Greenblatt, M S, Akagi, K, Al-Mulla, F, Bapat, B, Bernstein, I, Capellá, G, den Dunnen, J T, du Sart, D, Fabre, A, Farrell, M P, Farrington, S M, Frayling, I M, Frebourg, T, Goldgar, D E, Heinen, C D, Holinski-Feder, E, Kohonen-Corish, M, Robinson, K L, Leung, S Y, Martins, A, Moller, P, Morak, M, Nystrom, M, Peltomaki, P, Pineda, M, Qi, M, Ramesar, R, Rasmussen, L J, Royer-Pokora, B, Scott, R J, Sijmons, R, Tavtigian, S V, Tops, C M, Weber, T, Wijnen, J, Woods, M O, Macrae, F, Genuardi, M, Castillejo, A, Sexton, A, Chan, A K W, Viel, A, Blanco, A, French, A, Laner, A, Wagner, A, van den Ouweland, A & on behalf of InSiGHT 2014, ' Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database ', Nature Genetics, vol. 46, no. 2, pp. 107-115 . https://doi.org/10.1038/ng.2854
Dipòsit Digital de la UB
Universidad de Barcelona
Nature Genetics, 46, 2, pp. 107-15
Nature Genetics, 46(2), 107-115.e2. Nature Publishing Group

Contains fulltext : 138857.pdf (Publisher’s version ) (Closed access) The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The Internat

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https://hdl.handle.net/1765/58187

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