Large Scale Multifactorial Likelihood Quantitative Analysis of BRCA1 and BRCA2 Variants: an ENIGMA Resource to Support Clinical Variant Classification.
Michael T. Parsons,Emma Tudini,Hongyan Li,Eric Hahnen,Barbara Wappenschmidt,Lidia Feliubadalo,Cora M. Aalfs,Simona Agata,Kristiina Aittomaki,Elisa Alducci,Maria Concepcion Alonso-Cerezo,Norbert Arnold,Bernd Auber,Rachel Austin,Jacopo Azzollini,Judith Balmana,Elena Barbieri,Claus R. Bartram,Ana Blanco,Britta Bluemcke,Sandra Bonache,Bernardo Bonanni,Ake Borg,Beatrice Bortesi,Joan Brunet,Carla Bruzzone,Karolin Bucksch, Giulia Cagnoli,Trinidad Caldes,Almuth Caliebe,Maria A. Caligo,Mariarosaria Calvello,Gabriele L. Capone,Sandrine M. Caputo,Ileana Carnevali,Estela Carrasco,Virginie Caux-Moncoutier,Pietro Cavalli,Giulia Cini,Edward M. Clarke,Paola Concolino,Elisa J. Cops,Laura Cortesi,Fergus J. Couch,Esther Darder,Miguel de la Hoya,Michael Dean,Irmgard Debatin,Jesus Del Valle,Capucine Delnatte,Nicolas Derive,Orland Diez,Nina Ditsch,Susan M. Domchek,Veronique Dutrannoy,Diana M. Eccles,Hans Ehrencrona,Ute Enders,D. Gareth Evans,Chantal Farra,Ulrike Faust,Ute Felbor,Irene Feroce,Miriam Fine,William D. Foulkes,Henrique Cr Galvao,Gaetana Gambino,Andrea Gehrig,Francesca Gensini,Anne-Marie Gerdes,Aldo Germani,Jutta Giesecke,Viviana Gismondi,Carolina Gomez,Encarna B. Gomez Garcia,Sara Gonzalez,Elia Grau,Sabine Grill,Eva Gross,Aliana Guerrieri-Gonzaga,Marine Guillaud-Bataille,Sara Gutierrez-Enriquez,Thomas Haaf,Karl Hackmann,Thomas Vo Hansen,Marion Harris,Jan Hauke,Tilman Heinrich,Heide Hellebrand, Karen N. Herold,Ellen Honisch,Judit Horvath,Claude Houdayer,Verena Huebbel,Silvia Iglesias,Angel Izquierdo,Paul A. James, Linda Am Janssen,Udo Jeschke,Silke Kaulfuss,Katharina Keupp,Marion Kiechle,Alexandra Koelbl,Sophie Krieger,Torben A. Kruse,Anders Kvist,Fiona Lalloo,Mirjam Larsen,Vanessa L. Lattimore,Charlotte Lautrup,Susanne Ledig,Elena Leinert, Alexandra L. Lewis,Joanna Lim,Markus Loeffler,Adria Lopez-Fernandez,Emanuela Lucci-Cordisco,Nicolai Maass,Siranoush Manoukian,Monica Marabelli,Laura Matricardi,Alfons Meindl,Rodrigo D. Michelli,Setareh Moghadasi,Alejandro Moles-Fernandez,Marco Montagna,Gemma Montalban,Alvaro N. Monteiro,Eva Montes,Luigi Mori,Lidia Moserle,Clemens R. Mueller,Christoph Mundhenke,Nadia Naldi,Katherine L. Nathanson,Matilde Navarro,Heli Nevanlinna,Cassandra B. Nichols,Dieter Niederacher,Henriette R. Nielsen,Kai-ren Ong,Nicholas Pachter,Edenir Palmero,Laura Papi,Inge Sokilde Pedersen,Bernard Peissel,Pedro Perez-Segura,Katharina Pfeifer,Marta Pineda,Esther Pohl-Rescigno,Nicola K. Poplawski,Berardino Porfirio,Anne S. Quante,Juliane Ramser,Rui M. Reis,Francoise Revillion,Kerstin Rhiem,Barbara Riboli,Julia Ritter,Daniela Rivera,Paula Rofes,Andreas Rump,Monica Salinas, Ana Maria Sanchez de Abajo,Gunnar Schmidt,Ulrike Schoenwiese,Jochen Seggewiss,Ares Solanes,Doris Steinemann,Mathias Stiller,Dominique Stoppa-Lyonnet, Kelly J. Sullivan,Rachel Susman,Christian Sutter,Sean Tavtigian,Soo H. Teo,Alex Teule,Mads Thomassen,Maria Grazia Tibiletti,Marc Tischkowitz,Silvia Tognazzo,Amanda E. Toland,Eva Tornero,Therese Torngren,Sara Torres-Esquius,Angela Toss,Alison H. Trainer,Katherine M. Tucker,Christi J. van Asperen,Marion T. van Mackelenbergh,Liliana Varesco,Gardenia Vargas-Parra,Raymonda Varon,Ana Vega,Angela Velasco,Anne-Sophie Vesper,Alessandra Viel,Maaike P. G. Vreeswijk,Sebastian A. Wagner,Anke Waha,Logan C. Walker,Rhiannon J. Walters,Shan Wang-Gohrke,Bernhard H. F. Weber,Wilko Weichert,Kerstin Wieland,Lisa Wiesmueller,Isabell Witzel,Achim Woeckel,Emma R. Woodward,Silke Zachariae,Valentina Zampiga,Christine Zeder-Goss,Conxi Lazaro,Arcangela De Nicolo,Paolo Radice,Christoph Engel,Rita K. Schmutzler,David E. Goldgar,Amanda B. Spurdle
Human Mutation（2019）
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关键词
BRCA1,BRCA2,classification,clinical,multifactorial,quantitative,uncertain significance,variant
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