Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Parsons, Michael T.; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadaló, Lidia; Aalfs, Cora M.; Agata, Simona; Aittomäki, Kristiina; Alducci, Elisa; Alonso‐Cerezo, María Concepción; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmaña, Judith; Barbieri, Elena; Bartram, Claus R.; Blanco, Ana; Blümcke, Britta; Bonache, Sandra; Bonanni, Bernardo; Borg, Åke; Bortesi, Beatrice; Brunet, Joan; Bruzzone, Carla; Bucksch, Karolin; Cagnoli, Giulia; Caldés, Trinidad; Caliebe, Almuth; Caligo, Maria A.; Calvello, Mariarosaria; Capone, Gabriele L.; Caputo, Sandrine M.; Carnevali, Ileana; Carrasco, Estela; Caux‐Moncoutier, Virginie; Cavalli, Pietro; Cini, Giulia; Clarke, Edward M.; Concolino, Paola; Cops, Elisa J.; Cortesi, Laura; Couch, Fergus J.; Darder, Esther; Hoya, Miguel; Dean, Michael; Debatin, Irmgard; Del Valle, Jesús; Delnatte, Capucine; Derive, Nicolas; Diez, Orland; Ditsch, Nina; Domchek, Susan M.; Dutrannoy, Véronique; Eccles, Diana M.; Ehrencrona, Hans; Enders, Ute; Evans, D. Gareth; Farra, Chantal; Faust, Ulrike; Felbor, Ute; Feroce, Irene; Fine, Miriam; Foulkes, William D.; Galvao, Henrique C. R.; Gambino, Gaetana; Gehrig, Andrea; Gensini, Francesca; Gerdes, Anne‐Marie; Germani, Aldo; Giesecke, Jutta; Gismondi, Viviana; Gómez, Carolina; Garcia, Encarna B.; González, Sara; Grau, Elia; Grill, Sabine; Gross, Eva; Guerrieri‐Gonzaga, Aliana; Guillaud‐Bataille, Marine; Gutiérrez‐Enríquez, Sara; Haaf, Thomas; Hackmann, Karl; Hansen, Thomas V. O.; Harris, Marion; Hauke, Jan; Heinrich, Tilman; Hellebrand, Heide; Herold, Karen N.; Honisch, Ellen; Horvath, Judit; Houdayer, Claude; Hübbel, Verena; Iglesias, Silvia; Izquierdo, Angel; James, Paul A.; Janssen, Linda A. M.; Jeschke, Udo; Kaulfuß, Silke; Keupp, Katharina; Kiechle, Marion; Kölbl, Alexandra; Krieger, Sophie; Kruse, Torben A.; Kvist, Anders; Lalloo, Fiona; Larsen, Mirjam; Lattimore, Vanessa L.; Lautrup, Charlotte; Ledig, Susanne; Leinert, Elena; Lewis, Alexandra L.; Lim, Joanna; Loeffler, Markus; López‐Fernández, Adrià; Lucci‐Cordisco, Emanuela; Maass, Nicolai; Manoukian, Siranoush; Marabelli, Monica; Matricardi, Laura; Meindl, Alfons; Michelli, Rodrigo D.; Moghadasi, Setareh; Moles‐Fernández, Alejandro; Montagna, Marco; Montalban, Gemma; Monteiro, Alvaro N.; Montes, Eva; Mori, Luigi; Moserle, Lidia; Müller, Clemens R.; Mundhenke, Christoph; Naldi, Nadia; Nathanson, Katherine L.; Navarro, Matilde; Nevanlinna, Heli; Nichols, Cassandra B.; Niederacher, Dieter; Nielsen, Henriette R.; Ong, Kai‐ren; Pachter, Nicholas; Palmero, Edenir I.; Papi, Laura; Pedersen, Inge Sokilde; Peissel, Bernard; Perez‐Segura, Pedro; Pfeifer, Katharina; Pineda, Marta; Pohl‐Rescigno, Esther; Poplawski, Nicola K.; Porfirio, Berardino; Quante, Anne S.; Ramser, Juliane; Reis, Rui M.; Revillion, Françoise; Rhiem, Kerstin; Riboli, Barbara; Ritter, Julia; Rivera, Daniela; Rofes, Paula; Rump, Andreas; Salinas, Monica; Sánchez de Abajo, Ana María; Schmidt, Gunnar; Schoenwiese, Ulrike; Seggewiß, Jochen; Solanes, Ares; Steinemann, Doris; Stiller, Mathias; Stoppa‐Lyonnet, Dominique; Sullivan, Kelly J.; Susman, Rachel; Sutter, Christian; Tavtigian, Sean V.; Teo, Soo H.; Teulé, Alex; Thomassen, Mads; Tibiletti, Maria Grazia; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda E.; Tornero, Eva; Törngren, Therese; Torres‐Esquius, Sara; Toss, Angela; Trainer, Alison H.; Tucker, Katherine M.; Asperen, Christi J.; Mackelenbergh, Marion T.; Varesco, Liliana; Vargas‐Parra, Gardenia; Varon, Raymonda; Vega, Ana; Velasco, Ángela; Vesper, Anne‐Sophie; Viel, Alessandra; Vreeswijk, Maaike P. G.; Wagner, Sebastian A.; Waha, Anke; Walker, Logan C.; Walters, Rhiannon J.; Wang‐Gohrke, Shan; Weber, Bernhard H. F.; Weichert, Wilko; Wieland, Kerstin; Wiesmüller, Lisa; Witzel, Isabell; Wöckel, Achim; Woodward, Emma R.; Zachariae, Silke; Zampiga, Valentina; Zeder‐Göß, Christine; Investigators, KConFab; Lázaro, Conxi; Nicolo, Arcangela; Radice, Paolo; Engel, Christoph; Schmutzler, Rita K.; Goldgar, David E.; Spurdle, Amanda B.

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Michael Parsons
Parsons et al., 2019

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Wiley, Human Mutation: Variation, Informatics and Disease, 9(40), p. 1557-1578, 2019

DOI: 10.1002/humu.23818

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@article{Parsons2019,
  author = {Parsons, Michael T. and Tudini, Emma and Li, Hongyan and Hahnen, Eric and Wappenschmidt, Barbara and Feliubadaló, Lidia and Aalfs, Cora M. and Agata, Simona and Aittomäki, Kristiina and Alducci, Elisa and Alonso‐Cerezo, María Concepción and Arnold, Norbert and Auber, Bernd and Austin, Rachel and Azzollini, Jacopo and Balmaña, Judith and Barbieri, Elena and Bartram, Claus R. and Blanco, Ana and Blümcke, Britta and Bonache, Sandra and Bonanni, Bernardo and Borg, Åke and Bortesi, Beatrice and Brunet, Joan and Bruzzone, Carla and Bucksch, Karolin and Cagnoli, Giulia and Caldés, Trinidad and Caliebe, Almuth and Caligo, Maria A. and Calvello, Mariarosaria and Capone, Gabriele L. and Caputo, Sandrine M. and Carnevali, Ileana and Carrasco, Estela and Caux‐Moncoutier, Virginie and Cavalli, Pietro and Cini, Giulia and Clarke, Edward M. and Concolino, Paola and Cops, Elisa J. and Cortesi, Laura and Couch, Fergus J. and Darder, Esther and Hoya, Miguel and Dean, Michael and Debatin, Irmgard and Del Valle, Jesús and Delnatte, Capucine and Derive, Nicolas and Diez, Orland and Ditsch, Nina and Domchek, Susan M. and Dutrannoy, Véronique and Eccles, Diana M. and Ehrencrona, Hans and Enders, Ute and Evans, D. Gareth and Farra, Chantal and Faust, Ulrike and Felbor, Ute and Feroce, Irene and Fine, Miriam and Foulkes, William D. and Galvao, Henrique C. R. and Gambino, Gaetana and Gehrig, Andrea and Gensini, Francesca and Gerdes, Anne‐Marie and Germani, Aldo and Giesecke, Jutta and Gismondi, Viviana and Gómez, Carolina and Garcia, Encarna B. and González, Sara and Grau, Elia and Grill, Sabine and Gross, Eva and Guerrieri‐Gonzaga, Aliana and Guillaud‐Bataille, Marine and Gutiérrez‐Enríquez, Sara and Haaf, Thomas and Hackmann, Karl and Hansen, Thomas V. O. and Harris, Marion and Hauke, Jan and Heinrich, Tilman and Hellebrand, Heide and Herold, Karen N. and Honisch, Ellen and Horvath, Judit and Houdayer, Claude and Hübbel, Verena and Iglesias, Silvia and Izquierdo, Angel and James, Paul A. and Janssen, Linda A. M. and Jeschke, Udo and Kaulfuß, Silke and Keupp, Katharina and Kiechle, Marion and Kölbl, Alexandra and Krieger, Sophie and Kruse, Torben A. and Kvist, Anders and Lalloo, Fiona and Larsen, Mirjam and Lattimore, Vanessa L. and Lautrup, Charlotte and Ledig, Susanne and Leinert, Elena and Lewis, Alexandra L. and Lim, Joanna and Loeffler, Markus and López‐Fernández, Adrià and Lucci‐Cordisco, Emanuela and Maass, Nicolai and Manoukian, Siranoush and Marabelli, Monica and Matricardi, Laura and Meindl, Alfons and Michelli, Rodrigo D. and Moghadasi, Setareh and Moles‐Fernández, Alejandro and Montagna, Marco and Montalban, Gemma and Monteiro, Alvaro N. and Montes, Eva and Mori, Luigi and Moserle, Lidia and Müller, Clemens R. and Mundhenke, Christoph and Naldi, Nadia and Nathanson, Katherine L. and Navarro, Matilde and Nevanlinna, Heli and Nichols, Cassandra B. and Niederacher, Dieter and Nielsen, Henriette R. and Ong, Kai‐ren and Pachter, Nicholas and Palmero, Edenir I. and Papi, Laura and Pedersen, Inge Sokilde and Peissel, Bernard and Perez‐Segura, Pedro and Pfeifer, Katharina and Pineda, Marta and Pohl‐Rescigno, Esther and Poplawski, Nicola K. and Porfirio, Berardino and Quante, Anne S. and Ramser, Juliane and Reis, Rui M. and Revillion, Françoise and Rhiem, Kerstin and Riboli, Barbara and Ritter, Julia and Rivera, Daniela and Rofes, Paula and Rump, Andreas and Salinas, Monica and Sánchez de Abajo, Ana María and Schmidt, Gunnar and Schoenwiese, Ulrike and Seggewiß, Jochen and Solanes, Ares and Steinemann, Doris and Stiller, Mathias and Stoppa‐Lyonnet, Dominique and Sullivan, Kelly J. and Susman, Rachel and Sutter, Christian and Tavtigian, Sean V. and Teo, Soo H. and Teulé, Alex and Thomassen, Mads and Tibiletti, Maria Grazia and Tischkowitz, Marc and Tognazzo, Silvia and Toland, Amanda E. and Tornero, Eva and Törngren, Therese and Torres‐Esquius, Sara and Toss, Angela and Trainer, Alison H. and Tucker, Katherine M. and Asperen, Christi J. and Mackelenbergh, Marion T. and Varesco, Liliana and Vargas‐Parra, Gardenia and Varon, Raymonda and Vega, Ana and Velasco, Ángela and Vesper, Anne‐Sophie and Viel, Alessandra and Vreeswijk, Maaike P. G. and Wagner, Sebastian A. and Waha, Anke and Walker, Logan C. and Walters, Rhiannon J. and Wang‐Gohrke, Shan and Weber, Bernhard H. F. and Weichert, Wilko and Wieland, Kerstin and Wiesmüller, Lisa and Witzel, Isabell and Wöckel, Achim and Woodward, Emma R. and Zachariae, Silke and Zampiga, Valentina and Zeder‐Göß, Christine and Investigators, KConFab and Lázaro, Conxi and Nicolo, Arcangela and Radice, Paolo and Engel, Christoph and Schmutzler, Rita K. and Goldgar, David E. and Spurdle, Amanda B.},
  doi = {10.1002/humu.23818},
  journal = {Human Mutation: Variation, Informatics and Disease},
  month = {sep},
  pages = {1557-1578},
  title = {Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification},
  url = {https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.23818},
  volume = {40},
  year = {2019}
}

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