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; Feliubadalo, Lidia; Aalfs, Cora M.; Agata, Simona; Aittomaki, Kristiina; Alducci, Elisa; Concepcion Alonso-Cerezo, Maria; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmana, Judith; Barbieri, Elena; Bartram, Claus R.; Blanco, Ana; Bluemcke, Britta; Bonache, Sandra; Bonanni, Bernardo; Borg, Ake; Bortesi, Beatrice; Brunet, Joan; Bruzzone, Carla; Bucksch, Karolin; Cagnoli, Giulia; Caldes, 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, Jesus; Delnatte, Capucine; Derive, Nicolas; Diez, Orland; Ditsch, Nina; Domchek, Susan M.; Dutrannoy, Veronique; 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 Cr; Gambino, Gaetana; Gehrig, Andrea; Gensini, Francesca; Gerdes, Anne-Marie; Germani, Aldo; Giesecke, Jutta; Gismondi, Viviana; Gomez, Carolina; Garcia, Encarna B. Gomez; Gonzalez, Sara; Grau, Elia; Grill, Sabine; Gross, Eva; Guerrieri-Gonzaga, Aliana; Guillaud-Bataille, Marine; Gutierrez-Enriquez, Sara; Haaf, Thomas; Hackmann, Karl; Hansen, Thomas Vo; Harris, Marion; Hauke, Jan; Heinrich, Tilman; Hellebrand, Heide; Herold, Karen N.; Honisch, Ellen; Horvath, Judit; Houdayer, Claude; Huebbel, Verena; Iglesias, Silvia; Izquierdo, Angel; James, Paul A.; Janssen, Linda Am; Jeschke, Udo; Kaulfuss, Silke; Keupp, Katharina

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

Autor(en):

Parsons, Michael T.; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadalo, Lidia; Aalfs, Cora M.; Agata, Simona; Aittomaki, Kristiina; Alducci, Elisa; Concepcion Alonso-Cerezo, Maria; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmana, Judith; Barbieri, Elena; Bartram, Claus R.; Blanco, Ana; Bluemcke, Britta; Bonache, Sandra; Bonanni, Bernardo; Borg, Ake; Bortesi, Beatrice; Brunet, Joan; Bruzzone, Carla; Bucksch, Karolin; Cagnoli, Giulia; Caldes, 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, Jesus; Delnatte, Capucine; Derive, Nicolas; Diez, Orland; Ditsch, Nina; Domchek, Susan M.; Dutrannoy, Veronique; 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 Cr; Gambino, Gaetana; Gehrig, Andrea; Gensini, Francesca; Gerdes, Anne-Marie; Germani, Aldo; Giesecke, Jutta; Gismondi, Viviana; Gomez, Carolina; Garcia, Encarna B. Gomez; Gonzalez, Sara; Grau, Elia; Grill, Sabine; Gross, Eva; Guerrieri-Gonzaga, Aliana; Guillaud-Bataille, Marine; Gutierrez-Enriquez, Sara; Haaf, Thomas; Hackmann, Karl; Hansen, Thomas Vo; Harris, Marion; Hauke, Jan; Heinrich, Tilman; Hellebrand, Heide; Herold, Karen N.; Honisch, Ellen; Horvath, Judit; Houdayer, Claude; Huebbel, Verena; Iglesias, Silvia; Izquierdo, Angel; James, Paul A.; Janssen, Linda Am; Jeschke, Udo; Kaulfuss, Silke; Keupp, Katharina

Tübinger Autor(en):

Faust, Ulrike E. A.
Heinrich, Tilman

Erschienen in:

Human Mutation (2019), Bd. 40, H. SI, S. 1557-1578

Verlagsangabe:

Wiley

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1002/humu.23818

ISSN:

1098-1004