A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America

Autor: Rossi, Benedito Mauro, Palmero, Edenir Inêz, López-Kostner, Francisco, Sarroca, Carlos, Vaccaro, Carlos Alberto, Spirandelli, Florencia, Ashton-Prolla, Patricia, Rodriguez, Yenni, Galvão, Henrique de Campos Reis, Reis, Rui Manuel, dePaula, André Escremim, Romagnolo, Luis Gustavo Capochin, Alvarez, Karin, Valle, Adriana Della, Neffa, Florencia, Kalfayan, Pablo German, Spirandelli, Enrique, Chialina, Sergio, Angulo, Melva Gutiérrez, Castro-Mujica, Maria del Carmen, de Monte, Julio Sanchez, Quispe, Richard, de Silva, Sabrina Daniela, Rossi, Norma Teresa, Barletta-Carrillo, Claudia, Revollo, Susann, Taborga, Ximena, Morillas, L. Lena, Tubeuf, Hélène, Monteiro-Santos, Erika Maria, Piñero, Tamara Alejandra, Dominguez-Barrera, Constantino, Wernhoff, Patrik, Martins, Alexandra, Hovig, Eivind, Møller, Pål, Valentin, Mev Dominguez

Externí odkaz: https://hdl.handle.net/10642/7296

Mismatch repair genes in Lynch syndrome: a review

Autor: Silva, Felipe Cavalcanti Carneiro da, Valentin, Mev Dominguez, Ferreira, Fábio de Oliveira, Carraro, Dirce Maria, Rossi, Benedito Mauro

Publikováno v: Sao Paulo Medical Journal, Volume: 127, Issue: 1, Pages: 46-51, Published: JAN 2009

Lynch syndrome represents 1-7% of all cases of colorectal cancer and is an autosomal-dominant inherited cancer predisposition syndrome caused by germline mutations in deoxyribonucleic acid (DNA) mismatch repair genes. Since the discovery of the major

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______608::b4496f6089a8b0727a789e812f233323
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802009000100010&lng=en&tlng=en

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86466f033db6930362efd3088b4995cf
https://hdl.handle.net/1765/58187

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