Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Françoise Révillion"'
Autor:
Eric Dansin, Aurélien Carnot, Véronique Servent, Dorothée Daussay, Yves-Marie Robin, Ecaterina Surmei-Pintilie, Géraldine Lauridant, Clothilde Descarpentries, Françoise Révillion, Claire Delattre
Publikováno v:
Case Reports in Oncology, Vol 8, Iss 1, Pp 164-168 (2015)
Breast metastasis from other primary carcinoma is very rare and could be difficult to identify despite immunohistochemistry analysis. Breast metastasis from lung adenocarcinoma can mimic triple-negative breast cancer. Given the prognosis and therapeu
Externí odkaz:
https://doaj.org/article/2b0ab2a4fc1443ad97e1aa69e52db16f
Autor:
Alexandra Martins, Shyam K. Sharan, Pascaline Gaildrat, Thierry Frebourg, Claude Houdayer, Dominique Stoppa-Lyonnet, Angela R. Solano, Laurence Venat-Bouvet, Chrystelle Colas, Séverine Audebert-Bellanger, Fátima Vaz, Pascal Pujol, Danièle Muller, Hélène Larbre, Violaine Bourdon, Françoise Bonnet-Dorion, Myriam Vezain, Daniela Di Giacomo, Aurélie Drouet, Omar Soukarieh, Eileen Southon, Susan Reid, Linda Cleveland, Marine Guillaud-Bataille, Capucine Delnatte, Nadia Boutry-Kryza, Mélanie Léoné, Françoise Révillion, Laëtitia Meulemans, Alice Fiévet, Gaia Castelain, Julie Hauchard, Virginie Caux-Moncoutier, Sophie Krieger, Julie Rondeaux, Teresa Sullivan, Sandrine M. Caputo, Hélène Tubeuf
Supp Tables S1-S6 (including variant classification, bioinformatics predictions versus experimental data, primer sequences, summary of biological, clinical, tumoral, familial and multifactorial data, and description of statistical analysis approaches
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71b0332a1ad78e42684beaf0be96661f
https://doi.org/10.1158/0008-5472.22426135.v1
https://doi.org/10.1158/0008-5472.22426135.v1
Autor:
Alexandra Martins, Shyam K. Sharan, Pascaline Gaildrat, Thierry Frebourg, Claude Houdayer, Dominique Stoppa-Lyonnet, Angela R. Solano, Laurence Venat-Bouvet, Chrystelle Colas, Séverine Audebert-Bellanger, Fátima Vaz, Pascal Pujol, Danièle Muller, Hélène Larbre, Violaine Bourdon, Françoise Bonnet-Dorion, Myriam Vezain, Daniela Di Giacomo, Aurélie Drouet, Omar Soukarieh, Eileen Southon, Susan Reid, Linda Cleveland, Marine Guillaud-Bataille, Capucine Delnatte, Nadia Boutry-Kryza, Mélanie Léoné, Françoise Révillion, Laëtitia Meulemans, Alice Fiévet, Gaia Castelain, Julie Hauchard, Virginie Caux-Moncoutier, Sophie Krieger, Julie Rondeaux, Teresa Sullivan, Sandrine M. Caputo, Hélène Tubeuf
BRCA2 is a clinically actionable gene implicated in breast and ovarian cancer predisposition that has become a high priority target for improving the classification of variants of unknown significance (VUS). Among all BRCA2 VUS, those causing partial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::276434d538529130aa9d7a58debca642
https://doi.org/10.1158/0008-5472.c.6512242.v1
https://doi.org/10.1158/0008-5472.c.6512242.v1
Autor:
Pascaline Gaildrat, Alexandra Martins, Maaike P.G. Vreeswijk, Thierry Frebourg, Claude Houdayer, Dominique Stoppa-Lyonnet, Harry Vrieling, Lisa Golmard, Fabienne M.G.R. Calléja, Charlotte Grout, Aurélie Drouet, Maud Privat, Paul Vilquin, Sarab Lizard, Violaine Bourdon, Myriam Bronner, Virginie Guibert, Françoise Bonnet-Dorion, Omar Soukarieh, Hélène Tubeuf, Capucine Delnatte, Françoise Révillion, Johanna Sokolowska, Nadia Boutry-Kryza, Mélanie Léone, Virginie Caux-Moncoutier, Marine Guillaud-Bataille, Sophie Krieger, Sandrine M. Caputo, Romy L.S. Mesman, Laëtitia Meulemans
Supplementary Tables S1-S4. Table S1. Description of primers used in this study. Table S2. Variants selected in BRCA2 exon 12 and its flanking intronic regions. Table S3. Overview of bioinformatics predictions and experimental data obtained for the 4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62e06557cf0fc6980f4916530d042458
https://doi.org/10.1158/0008-5472.22426126.v1
https://doi.org/10.1158/0008-5472.22426126.v1
Autor:
Pascaline Gaildrat, Alexandra Martins, Maaike P.G. Vreeswijk, Thierry Frebourg, Claude Houdayer, Dominique Stoppa-Lyonnet, Harry Vrieling, Lisa Golmard, Fabienne M.G.R. Calléja, Charlotte Grout, Aurélie Drouet, Maud Privat, Paul Vilquin, Sarab Lizard, Violaine Bourdon, Myriam Bronner, Virginie Guibert, Françoise Bonnet-Dorion, Omar Soukarieh, Hélène Tubeuf, Capucine Delnatte, Françoise Révillion, Johanna Sokolowska, Nadia Boutry-Kryza, Mélanie Léone, Virginie Caux-Moncoutier, Marine Guillaud-Bataille, Sophie Krieger, Sandrine M. Caputo, Romy L.S. Mesman, Laëtitia Meulemans
Fig. S1 to S10. Figure S1. Variant selection from human variation databases; Figure S2. Capillary electrophoresis analyses of BRCA2 exon 12 splicing patterns in minigene assays of presumed LoF variants; Figure S3. Bioinformatics predictions of 3'/5'
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::497aab6221fbe0213b7bd594d2f6afd9
https://doi.org/10.1158/0008-5472.22426123
https://doi.org/10.1158/0008-5472.22426123
Autor:
Pascaline Gaildrat, Alexandra Martins, Maaike P.G. Vreeswijk, Thierry Frebourg, Claude Houdayer, Dominique Stoppa-Lyonnet, Harry Vrieling, Lisa Golmard, Fabienne M.G.R. Calléja, Charlotte Grout, Aurélie Drouet, Maud Privat, Paul Vilquin, Sarab Lizard, Violaine Bourdon, Myriam Bronner, Virginie Guibert, Françoise Bonnet-Dorion, Omar Soukarieh, Hélène Tubeuf, Capucine Delnatte, Françoise Révillion, Johanna Sokolowska, Nadia Boutry-Kryza, Mélanie Léone, Virginie Caux-Moncoutier, Marine Guillaud-Bataille, Sophie Krieger, Sandrine M. Caputo, Romy L.S. Mesman, Laëtitia Meulemans
Germline nonsense and canonical splice site variants identified in disease-causing genes are generally considered as loss-of-function (LoF) alleles and classified as pathogenic. However, a fraction of such variants could maintain function through the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e068c6bd525556ede8c1593c3d5f2fa
https://doi.org/10.1158/0008-5472.c.6512236
https://doi.org/10.1158/0008-5472.c.6512236
Autor:
Gaia Castelain, Capucine Delnatte, Pascaline Gaildrat, Myriam Vezain, Laëtitia Meulemans, Nadia Boutry-Kryza, Teresa Sullivan, Dominique Stoppa-Lyonnet, Julie Hauchard, Pascal Pujol, Thierry Frebourg, Séverine Audebert-Bellanger, Daniela Di Giacomo, Danièle Muller, Aurélie Drouet, Hélène Tubeuf, Susan W. Reid, Julie Rondeaux, Mélanie Léoné, Violaine Bourdon, Françoise Bonnet-Dorion, Françoise Révillion, Hélène Larbre, Shyam K. Sharan, Omar Soukarieh, Sandrine M. Caputo, Alice Fiévet, Laurence Venat-Bouvet, Virginie Caux-Moncoutier, Alexandra Martins, Fátima Vaz, Angela R. Solano, Claude Houdayer, Eileen Southon, Chrystelle Colas, Marine Guillaud-Bataille, Linda Cleveland, Sophie Krieger
Publikováno v:
Cancer Res
Cancer Research
Cancer Research, 2020, 80 (17), pp.3593-3605. ⟨10.1158/0008-5472.CAN-20-0895⟩
Cancer Research
Cancer Research, 2020, 80 (17), pp.3593-3605. ⟨10.1158/0008-5472.CAN-20-0895⟩
BRCA2 is a clinically actionable gene implicated in breast and ovarian cancer predisposition that has become a high priority target for improving the classification of variants of unknown significance (VUS). Among all BRCA2 VUS, those causing partial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f68c10d8df37aff88dc3d1287374cd2
https://europepmc.org/articles/PMC7484206/
https://europepmc.org/articles/PMC7484206/
Autor:
Romy L. S. Mesman, Marine Guillaud-Bataille, Mélanie Léoné, Capucine Delnatte, Aurélie Drouet, Alexandra Martins, Hélène Tubeuf, Laëtitia Meulemans, Omar Soukarieh, Pascaline Gaildrat, Violaine Bourdon, Nadia Boutry-Kryza, Sophie Krieger, Myriam Bronner, Fabienne Calléja, Johanna Sokolowska, Maud Privat, Dominique Stoppa-Lyonnet, Harry Vrieling, Maaike P.G. Vreeswijk, Françoise Révillion, Sandrine M. Caputo, Claude Houdayer, Sarab Lizard, Charlotte Grout, Françoise Bonnet-Dorion, Lisa Golmard, Virginie Caux-Moncoutier, Paul Vilquin, Virginie Guibert, Thierry Frebourg
Publikováno v:
Cancer Research
Cancer Research, American Association for Cancer Research, 2020, 80 (7), pp.1374-1386. ⟨10.1158/0008-5472.CAN-19-2491⟩
Cancer Research, 80(7), 1374-1386. AMER ASSOC CANCER RESEARCH
Cancer Research, 2020, 80 (7), pp.1374-1386. ⟨10.1158/0008-5472.CAN-19-2491⟩
Cancer Research, American Association for Cancer Research, 2020, 80 (7), pp.1374-1386. ⟨10.1158/0008-5472.CAN-19-2491⟩
Cancer Research, 80(7), 1374-1386. AMER ASSOC CANCER RESEARCH
Cancer Research, 2020, 80 (7), pp.1374-1386. ⟨10.1158/0008-5472.CAN-19-2491⟩
Germline nonsense and canonical splice site variants identified in disease-causing genes are generally considered as loss-of-function (LoF) alleles and classified as pathogenic. However, a fraction of such variants could maintain function through the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1ce592217bf40db2a0503c43fe1e3bb
https://hal.uca.fr/hal-02929535
https://hal.uca.fr/hal-02929535
Autor:
Laëtitia, Meulemans, Romy L S, Mesman, Sandrine M, Caputo, Sophie, Krieger, Marine, Guillaud-Bataille, Virginie, Caux-Moncoutier, Mélanie, Léone, Nadia, Boutry-Kryza, Johanna, Sokolowska, Françoise, Révillion, Capucine, Delnatte, Hélène, Tubeuf, Omar, Soukarieh, Françoise, Bonnet-Dorion, Virginie, Guibert, Myriam, Bronner, Violaine, Bourdon, Sarab, Lizard, Paul, Vilquin, Maud, Privat, Aurélie, Drouet, Charlotte, Grout, Fabienne M G R, Calléja, Lisa, Golmard, Harry, Vrieling, Dominique, Stoppa-Lyonnet, Claude, Houdayer, Thierry, Frebourg, Maaike P G, Vreeswijk, Alexandra, Martins, Pascaline, Gaildrat
Publikováno v:
Cancer research. 80(7)
Germline nonsense and canonical splice site variants identified in disease-causing genes are generally considered as loss-of-function (LoF) alleles and classified as pathogenic. However, a fraction of such variants could maintain function through the
Autor:
Luigi Mori, Sara González, Elia Grau, Dieter Niederacher, Alexandra C. Kölbl, Ares Solanes, Cassandra B. Nichols, Marine Guillaud-Bataille, Ulrike Schoenwiese, Katherine L. Nathanson, Alfons Meindl, Ellen Honisch, Hans Ehrencrona, Ute Enders, Anke Waha, Trinidad Caldés, Inge Søkilde Pedersen, Ana Blanco, Emma Tudini, Conxi Lázaro, Paolo Radice, Torben A Kruse, María Concepción Alonso-Cerezo, Chantal Farra, Shan Wang-Gohrke, Wilko Weichert, Heli Nevanlinna, Setareh Moghadasi, Bernd Auber, Carla Bruzzone, Aliana Guerrieri-Gonzaga, Sabine Grill, Raymonda Varon, Nicolas Derive, Ana Vega, Nicolai Maass, Åke Borg, Cora M. Aalfs, Nadia Naldi, Silvia Iglesias, Kai Ren Ong, Encarna B. Gomez Garcia, Karl Hackmann, Emma R. Woodward, Norbert Arnold, David E. Goldgar, Bernard Peissel, Karolin Bucksch, Berardino Porfirio, Françoise Révillion, Angel Izquierdo, Isabell Witzel, Sebastian Wagner, Silke Zachariae, Elisa Alducci, Mads Thomassen, Jesús del Valle, Valentina Zampiga, Kerstin Rhiem, Lidia Moserle, Edenir Inêz Palmero, Maaike P.G. Vreeswijk, Christoph Mundhenke, Laura Papi, Alejandro Moles-Fernández, Paula Rofes, Ulrike Faust, Andrea Gehrig, Sandrine M. Caputo, Logan C. Walker, Fiona Lalloo, Ute Felbor, Joan Brunet, Henriette Roed Nielsen, Sean V. Tavtigian, Beatrice Bortesi, Thomas Hansen, Maria Grazia Tibiletti, Estela Carrasco, Lisa Wiesmüller, Viviana Gismondi, Sophie Krieger, Pedro Pérez-Segura, Esther Pohl-Rescigno, Emanuela Lucci-Cordisco, Barbara Wappenschmidt, Rui Manuel Reis, Gabriele Lorenzo Capone, Ileana Carnevali, Christi J. van Asperen, KCon Fab Investigators, Jochen Seggewiß, Rhiannon J. Walters, Irmgard Debatin, Susan M. Domchek, Marco Montagna, Francesca Gensini, Kristiina Aittomäki, Véronique Dutrannoy, Arcangela De Nicolo, Giulia Cagnoli, Elisa J. Cops, Henrique de Campos Reis Galvão, Giulia Cini, Barbara Riboli, Eva Tornero, Paul A. James, Judith Balmaña, Anne-Marie Gerdes, Heide Hellebrand, Miriam Fine, Mathias Stiller, Aldo Germani, Diana Eccles, Britta Blümcke, Dominique Stoppa-Lyonnet, Elena Leinert, Alexandra Lewis, Daniela Rivera, Verena Hübbel, Fergus J. Couch, Gunnar Schmidt, Katharina Keupp, Bernhard H. F. Weber, Tilman Heinrich, Mariarosaria Calvello, Michael Dean, Udo Jeschke, Vanessa Lattimore, Linda A.M. Janssen, Siranoush Manoukian, Eva Gross, Kelly J. Sullivan, Doris Steinemann, Susanne Ledig, Alessandra Viel, Christoph Engel, Ana Sánchez de Abajo, Nina Ditsch, Sandra Bonache, Maria A. Caligo, Katharina Pfeifer, Thomas Haaf, Christian Sutter, Eric Hahnen, Laura Matricardi, Marc Tischkowitz, Alex Teulé, Katherine M. Tucker, Jutta Giesecke, Silvia Tognazzo, Gemma Montalban, Carolina Gómez, Anders Kvist, Joanna Lim, Alison H. Trainer, Rachel Susman, Judit Horvath, Amanda B. Spurdle, Mirjam Larsen, Therese Törngren, Mónica Salinas, Nicholas Pachter, Rachel Austin, Nicola K. Poplawski, C Zeder-Göß, Juliane Ramser, Julia Ritter, Anne Sophie Vesper, Paola Concolino, D. Gareth Evans, Clemens R. Müller, Matilde Navarro, Sara Torres-Esquius, Claus R. Bartram, Laura Cortesi, Jacopo Azzollini, Marion Harris, Edward M. Clarke, Marion Kiechle, Lídia Feliubadaló, Almuth Caliebe, Karen N. Herold, Charlotte Kvist Lautrup, Anne S. Quante, Gardenia Vargas-Parra, Michael T. Parsons, Pietro Cavalli, Hongyan Li, Rodrigo Augusto Depieri Michelli, Irene Feroce, Achim Wöckel, Kerstin Wieland, Silke Kaulfuß, Soo Hwang Teo, Angela Velasco, Capucine Delnatte, Marta Pineda, Marion van Mackelenbergh, Eva Montes, Angela Toss, Rita K. Schmutzler, William D. Foulkes, Alvaro N.A. Monteiro, Jan Hauke, Monica Marabelli, Miguel de la Hoya, Sara Gutiérrez-Enríquez, Esther Darder, Simona Agata, Amanda E. Toland, Bernardo Bonanni, Liliana Varesco, Orland Diez, Andreas Rump, Virginie Caux-Moncoutier, Gaetana Gambino, Markus Loeffler, Claude Houdayer, Elena Barbieri, Adrià López-Fernández
Publikováno v:
Evans, D G, Lalloo, F, Woodward, E & et al. 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification ', Human Mutation . https://doi.org/10.1002/humu.23818
Human Mutation
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Darder, E, de la Hoya, M, Dean, M, Debatin, I, del Valle, J, Delnatte, C, Derive, N, Diez, O, Ditsch, N, Domchek, S M, Dutrannoy, V, Eccles, D M, Ehrencrona, H, Enders, U, Evans, D G, Faust, U, Felbor, U, Feroce, I, Fine, M, Galvao, H C R, Gambino, G, Gehrig, A, Gensini, F, Gerdes, A-M, Germani, A, Giesecke, J, Gismondi, V, Gómez, C, Gómez Garcia, E B, González, S, Grau, E, Grill, S, Gross, E, Guerrieri-Gonzaga, A, Guillaud-Bataille, M, Gutiérrez-Enríquez, S, Haaf, T, Hackmann, K, Hansen, T V O, Harris, M, Hauke, J, Heinrich, T, Hellebrand, H, Herold, K N, Honisch, E, Horvath, J, Houdayer, C, Hübbel, V, Iglesias, S, Izquierdo, A, James, P A, Janssen, L A M, Jeschke, U, Kaulfuß, S, Keupp, K, Kiechle, M, Kölbl, A, Krieger, S, Kruse, T A, Kvist, A, Lalloo, F, Larsen, M, Lattimore, V L, Lautrup, C, Ledig, S, Leinert, E, Lewis, A L, Lim, J, Loeffler, M, López-Fernández, A, Lucci-Cordisco, E, Maass, N, Manoukian, S, Marabelli, M, Matricardi, L, Meindl, A, Michelli, R D, Moghadasi, S, Moles-Fernández, A, Montagna, M, Montalban, G, Monteiro, A N, Montes, E, Mori, L, Moserle, L, Müller, C R, Mundhenke, C, Naldi, N, Nathanson, K L, Navarro, M, Nevanlinna, H, Nichols, C B, Niederacher, D, Nielsen, H R, Ong, K, Pachter, N, Palmero, E I, Papi, L, Pedersen, I S, Peissel, B, Pérez-Segura, P, Pfeifer, K, Pineda, M, Pohl-Rescigno, E, Poplawski, N K, Porfirio, B, Quante, A S, Ramser, J, Rei, R M, Revillion, F, Rhiem, K, Riboli, B, Ritter, J, Rivera, D, Rofes, P, Rump, A, Salinas, M, Sánchez de Abajo, A M, Schmidt, G, Schoenwiese, U, Seggewiß, J, Solanes, A, Steinemann, D, Stiller, M, Stoppa-Lyonnet, D, Sullivan, K J, Susman, R, Sutter, C, Tavtigian, S V, Teo, S H, Teulé, A, Thomassen, M, Tibiletti, M G, Tognazzo, S, Toland, A E, Tornero, E, Törngren, T, Torres-Esquius, S, Toss, A, Trainer, A H, van Asperen, C J, van Mackelenbergh, M T, Varesco, L, Vargas-Parra, G, Varon, R, Vega, A, Velasco, Á, Vesper, A-S, Viel, A, Vreeswijk, M P G, Wagner, S A, Waha, A, Walker, L C, Walters, R J, Wang-Gohrke, S, Weber, B H F, Weichert, W, Wieland, K, Wiesmüller, L, Witzel, I, Wöckel, A, Woodward, E R, Zachariae, S, Zampiga, V, Zeder-Göß, C, KConFab Investigators, Lázaro, C, De Nicolo, A, Radice, P, Engel, C, Schmutzler, R K, Goldgar, D E & Spurdle, A B 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification ', Human Mutation, vol. 40, no. 9, pp. 1557-1578 . https://doi.org/10.1002/humu.23818
Dipòsit Digital de la UB
Universidad de Barcelona
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Human Mutation, 40(9), 1557-1578. WILEY
Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Gerdes, A-M, Hansen, T V O, Kruse, T A, Nielsen, H R, Pedersen, I S, Lautrup, C K, Thomassen, M & kConFab Investigators 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification ', Human Mutation, vol. 40, no. 9, pp. 1557-1578 . https://doi.org/10.1002/humu.23818
Human Mutation, Wiley, 2019, 40 (9), pp.1557-1578. ⟨10.1002/humu.23818⟩
Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Darder, E, de la Hoya, M, Dean, M, Gerdes, A-M, Hansen, T V O, Wagner, S A & kConFab Investigators 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification ', Human Mutation, vol. 40, no. 9, pp. 1557-1578 . https://doi.org/10.1002/humu.23818
Human Mutation, 2019, 40 (9), pp.1557-1578. ⟨10.1002/humu.23818⟩
Human Mutation, 40(9), 1557-1578. Wiley
Human Mutation
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Darder, E, de la Hoya, M, Dean, M, Debatin, I, del Valle, J, Delnatte, C, Derive, N, Diez, O, Ditsch, N, Domchek, S M, Dutrannoy, V, Eccles, D M, Ehrencrona, H, Enders, U, Evans, D G, Faust, U, Felbor, U, Feroce, I, Fine, M, Galvao, H C R, Gambino, G, Gehrig, A, Gensini, F, Gerdes, A-M, Germani, A, Giesecke, J, Gismondi, V, Gómez, C, Gómez Garcia, E B, González, S, Grau, E, Grill, S, Gross, E, Guerrieri-Gonzaga, A, Guillaud-Bataille, M, Gutiérrez-Enríquez, S, Haaf, T, Hackmann, K, Hansen, T V O, Harris, M, Hauke, J, Heinrich, T, Hellebrand, H, Herold, K N, Honisch, E, Horvath, J, Houdayer, C, Hübbel, V, Iglesias, S, Izquierdo, A, James, P A, Janssen, L A M, Jeschke, U, Kaulfuß, S, Keupp, K, Kiechle, M, Kölbl, A, Krieger, S, Kruse, T A, Kvist, A, Lalloo, F, Larsen, M, Lattimore, V L, Lautrup, C, Ledig, S, Leinert, E, Lewis, A L, Lim, J, Loeffler, M, López-Fernández, A, Lucci-Cordisco, E, Maass, N, Manoukian, S, Marabelli, M, Matricardi, L, Meindl, A, Michelli, R D, Moghadasi, S, Moles-Fernández, A, Montagna, M, Montalban, G, Monteiro, A N, Montes, E, Mori, L, Moserle, L, Müller, C R, Mundhenke, C, Naldi, N, Nathanson, K L, Navarro, M, Nevanlinna, H, Nichols, C B, Niederacher, D, Nielsen, H R, Ong, K, Pachter, N, Palmero, E I, Papi, L, Pedersen, I S, Peissel, B, Pérez-Segura, P, Pfeifer, K, Pineda, M, Pohl-Rescigno, E, Poplawski, N K, Porfirio, B, Quante, A S, Ramser, J, Rei, R M, Revillion, F, Rhiem, K, Riboli, B, Ritter, J, Rivera, D, Rofes, P, Rump, A, Salinas, M, Sánchez de Abajo, A M, Schmidt, G, Schoenwiese, U, Seggewiß, J, Solanes, A, Steinemann, D, Stiller, M, Stoppa-Lyonnet, D, Sullivan, K J, Susman, R, Sutter, C, Tavtigian, S V, Teo, S H, Teulé, A, Thomassen, M, Tibiletti, M G, Tognazzo, S, Toland, A E, Tornero, E, Törngren, T, Torres-Esquius, S, Toss, A, Trainer, A H, van Asperen, C J, van Mackelenbergh, M T, Varesco, L, Vargas-Parra, G, Varon, R, Vega, A, Velasco, Á, Vesper, A-S, Viel, A, Vreeswijk, M P G, Wagner, S A, Waha, A, Walker, L C, Walters, R J, Wang-Gohrke, S, Weber, B H F, Weichert, W, Wieland, K, Wiesmüller, L, Witzel, I, Wöckel, A, Woodward, E R, Zachariae, S, Zampiga, V, Zeder-Göß, C, KConFab Investigators, Lázaro, C, De Nicolo, A, Radice, P, Engel, C, Schmutzler, R K, Goldgar, D E & Spurdle, A B 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification ', Human Mutation, vol. 40, no. 9, pp. 1557-1578 . https://doi.org/10.1002/humu.23818
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Universidad de Barcelona
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
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Human Mutation, 40(9), 1557-1578. WILEY
Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Gerdes, A-M, Hansen, T V O, Kruse, T A, Nielsen, H R, Pedersen, I S, Lautrup, C K, Thomassen, M & kConFab Investigators 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification ', Human Mutation, vol. 40, no. 9, pp. 1557-1578 . https://doi.org/10.1002/humu.23818
Human Mutation, Wiley, 2019, 40 (9), pp.1557-1578. ⟨10.1002/humu.23818⟩
Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Darder, E, de la Hoya, M, Dean, M, Gerdes, A-M, Hansen, T V O, Wagner, S A & kConFab Investigators 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification ', Human Mutation, vol. 40, no. 9, pp. 1557-1578 . https://doi.org/10.1002/humu.23818
Human Mutation, 2019, 40 (9), pp.1557-1578. ⟨10.1002/humu.23818⟩
Human Mutation, 40(9), 1557-1578. Wiley
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e8c9e523f0496e5d186957a0c3bd3df
https://doi.org/10.1002/humu.23818
https://doi.org/10.1002/humu.23818