Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. [electronic resource] - Human mutation 09 2019 - 1557-1578 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
1098-1004
10.1002/humu.23818 doi
Alternative Splicing
BRCA1 Protein--genetics
BRCA2 Protein--genetics
Computational Biology--methods
Early Detection of Cancer
Female
Genetic Predisposition to Disease
Humans
Likelihood Functions
Male
Multifactorial Inheritance
Mutation, Missense
Neoplasms--diagnosis
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
APA
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., Farra C., Faust U., Felbor U., Feroce I., Fine M., Foulkes W. D., Galvao H. C. R., Gambino G., Gehrig A., Gensini F., Gerdes A., 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., Perez-Segura P., Pfeifer K., Pineda M., Pohl-Rescigno E., Poplawski N. K., Porfirio B., Quante A. S., Ramser J., Reis 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., Tischkowitz M., Tognazzo S., Toland A. E., Tornero E., Törngren T., Torres-Esquius S., Toss A., Trainer A. H., Tucker K. M., van Asperen C. J., van Mackelenbergh M. T., Varesco L., Vargas-Parra G., Varon R., Vega A., Velasco Á., Vesper A., 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., Lázaro C., De Nicolo A., Radice P., Engel C., Schmutzler R. K., Goldgar D. E. & Spurdle A. B. (20200313). Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. : Human mutation.
Chicago
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, de la 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, Gómez 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, van Asperen Christi J, van 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, Lázaro Conxi, De Nicolo Arcangela, Radice Paolo, Engel Christoph, Schmutzler Rita K, Goldgar David E and Spurdle Amanda B. 20200313. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. : Human mutation.
Harvard
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., Farra C., Faust U., Felbor U., Feroce I., Fine M., Foulkes W. D., Galvao H. C. R., Gambino G., Gehrig A., Gensini F., Gerdes A., 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., Perez-Segura P., Pfeifer K., Pineda M., Pohl-Rescigno E., Poplawski N. K., Porfirio B., Quante A. S., Ramser J., Reis 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., Tischkowitz M., Tognazzo S., Toland A. E., Tornero E., Törngren T., Torres-Esquius S., Toss A., Trainer A. H., Tucker K. M., van Asperen C. J., van Mackelenbergh M. T., Varesco L., Vargas-Parra G., Varon R., Vega A., Velasco Á., Vesper A., 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., Lázaro C., De Nicolo A., Radice P., Engel C., Schmutzler R. K., Goldgar D. E. and Spurdle A. B. (20200313). Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. : Human mutation.
MLA
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, de la 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, Gómez 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, van Asperen Christi J, van 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, Lázaro Conxi, De Nicolo Arcangela, Radice Paolo, Engel Christoph, Schmutzler Rita K, Goldgar David E and Spurdle Amanda B. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. : Human mutation. 20200313.