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

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 Pérez, Ana; 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. 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. R.; 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. 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.; Investigators, K.; Lázaro, C.; De Nicolo, A.; Radice, P.; Engel, C.; Schmutzler, R. K.; Goldgar, D. E.; Spurdle, A. B.

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

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 variants include clinically calibrated prior probab...

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Autores:	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 Pérez, Ana, 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. 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. R., 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. 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., Investigators, K., Lázaro, C., De Nicolo, A., Radice, P., Engel, C., Schmutzler, R. K., Goldgar, D. E., Spurdle, A. B.
Tipo de recurso:	artículo
Fecha de publicación:	2019
País:	España
Institución:	Servizo Galego de Saúde (SERGAS)
Repositorio:	RUNA. Repositorio da Consellería de Sanidade e Sergas
OAI Identifier:	oai:runa.sergas.gal:20.500.11940/15792
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6772163/pdf/HUMU-40-1557.pdf https://www.ncbi.nlm.nih.gov/pubmed/31131967 http://hdl.handle.net/20.500.11940/15792
Access Level:	acceso abierto
Palabra clave:	Mutation Early Detection of Cancer Computational Biology Alternative Splicing Likelihood Functions Humans BRCA1 Protein Multifactorial Inheritance BRCA2 Protein Genetic Predisposition to Disease Neoplasms biología computacional mutación humanos empalme alternativo detección precoz del cáncer neoplasias proteína BRCA1 herencia multifactorial funciones de verosimilitud predisposición genética a la enfermedad proteína BRCA2 FPGMX IDIS

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oai_identifier_str	oai:runa.sergas.gal:20.500.11940/15792
network_acronym_str	ES
network_name_str	España
repository_id_str
dc.title.none.fl_str_mv	Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
title	Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
spellingShingle	Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification Parsons, M. T. Mutation Early Detection of Cancer Computational Biology Alternative Splicing Likelihood Functions Humans BRCA1 Protein Multifactorial Inheritance BRCA2 Protein Genetic Predisposition to Disease Neoplasms biología computacional mutación humanos empalme alternativo detección precoz del cáncer neoplasias proteína BRCA1 herencia multifactorial funciones de verosimilitud predisposición genética a la enfermedad proteína BRCA2 FPGMX IDIS
title_short	Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
title_full	Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
title_fullStr	Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
title_full_unstemmed	Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
title_sort	Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
dc.creator.none.fl_str_mv	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 Pérez, Ana 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. 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. R. 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. 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. Investigators, K. Lázaro, C. De Nicolo, A. Radice, P. Engel, C. Schmutzler, R. K. Goldgar, D. E. Spurdle, A. B.
author	Parsons, M. T.
author_facet	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 Pérez, Ana 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. 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. R. 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. 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. Investigators, K. Lázaro, C. De Nicolo, A. Radice, P. Engel, C. Schmutzler, R. K. Goldgar, D. E. Spurdle, A. B.
author_role	author
author2	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 Pérez, Ana 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. 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. R. 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. 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. Investigators, K. Lázaro, C. De Nicolo, A. Radice, P. Engel, C. Schmutzler, R. K. Goldgar, D. E. Spurdle, A. B.
author2_role	author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author
dc.subject.none.fl_str_mv	Mutation Early Detection of Cancer Computational Biology Alternative Splicing Likelihood Functions Humans BRCA1 Protein Multifactorial Inheritance BRCA2 Protein Genetic Predisposition to Disease Neoplasms biología computacional mutación humanos empalme alternativo detección precoz del cáncer neoplasias proteína BRCA1 herencia multifactorial funciones de verosimilitud predisposición genética a la enfermedad proteína BRCA2 FPGMX IDIS
topic	Mutation Early Detection of Cancer Computational Biology Alternative Splicing Likelihood Functions Humans BRCA1 Protein Multifactorial Inheritance BRCA2 Protein Genetic Predisposition to Disease Neoplasms biología computacional mutación humanos empalme alternativo detección precoz del cáncer neoplasias proteína BRCA1 herencia multifactorial funciones de verosimilitud predisposición genética a la enfermedad proteína BRCA2 FPGMX IDIS
description	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 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1,395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; and 248 classifications were new or considerably altered relative to ClinVar submissions. Classifications were compared with information not yet included in the likelihood model, and evidence strengths aligned to those recommended for ACMG/AMP classification codes. Altered mRNA splicing or function relative to known nonpathogenic variant controls were moderately to strongly predictive of variant pathogenicity. Variant absence in population datasets provided supporting evidence for variant pathogenicity. These findings have direct relevance for BRCA1 and BRCA2 variant evaluation, and justify the need for gene-specific calibration of evidence types used for variant classification.
publishDate	2019
dc.date.none.fl_str_mv	2019
dc.type.none.fl_str_mv	info:eu-repo/semantics/article
format	article
dc.identifier.none.fl_str_mv	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6772163/pdf/HUMU-40-1557.pdf https://www.ncbi.nlm.nih.gov/pubmed/31131967 http://hdl.handle.net/20.500.11940/15792
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6772163/pdf/HUMU-40-1557.pdf https://www.ncbi.nlm.nih.gov/pubmed/31131967 http://hdl.handle.net/20.500.11940/15792
dc.language.none.fl_str_mv	Inglés
language_invalid_str_mv	Inglés
dc.rights.none.fl_str_mv	http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess
rights_invalid_str_mv	http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv	openAccess
dc.source.none.fl_str_mv	reponame:RUNA. Repositorio da Consellería de Sanidade e Sergas instname:Servizo Galego de Saúde (SERGAS)
instname_str	Servizo Galego de Saúde (SERGAS)
reponame_str	RUNA. Repositorio da Consellería de Sanidade e Sergas
collection	RUNA. Repositorio da Consellería de Sanidade e Sergas
repository.name.fl_str_mv
repository.mail.fl_str_mv
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spelling	Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classificationParsons, 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 Pérez, AnaBlümcke, B.Bonache, S.Bonanni, B.Borg, ÅBortesi, 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. 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. R.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, ÁVesper, 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.Investigators, K.Lázaro, C.De Nicolo, A.Radice, P.Engel, C.Schmutzler, R. K.Goldgar, D. E.Spurdle, A. B.MutationEarly Detection of CancerComputational BiologyAlternative SplicingLikelihood FunctionsHumansBRCA1 ProteinMultifactorial InheritanceBRCA2 ProteinGenetic Predisposition to DiseaseNeoplasmsbiología computacionalmutaciónhumanosempalme alternativodetección precoz del cáncerneoplasiasproteína BRCA1herencia multifactorialfunciones de verosimilitudpredisposición genética a la enfermedadproteína BRCA2FPGMXIDISThe 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 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1,395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; and 248 classifications were new or considerably altered relative to ClinVar submissions. Classifications were compared with information not yet included in the likelihood model, and evidence strengths aligned to those recommended for ACMG/AMP classification codes. Altered mRNA splicing or function relative to known nonpathogenic variant controls were moderately to strongly predictive of variant pathogenicity. Variant absence in population datasets provided supporting evidence for variant pathogenicity. These findings have direct relevance for BRCA1 and BRCA2 variant evaluation, and justify the need for gene-specific calibration of evidence types used for variant classification.2019info:eu-repo/semantics/articlehttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6772163/pdf/HUMU-40-1557.pdfhttps://www.ncbi.nlm.nih.gov/pubmed/31131967http://hdl.handle.net/20.500.11940/15792reponame:RUNA. Repositorio da Consellería de Sanidade e Sergasinstname:Servizo Galego de Saúde (SERGAS)Ingléshttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:runa.sergas.gal:20.500.11940/157922026-06-12T08:40:47Z
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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

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