Parsons, Michael T., Tudini, Emma, Li, Hongyan, Hahnen, Eric, Wappenschmidt, Barbara, Feliubadalo, Lidia ORCID: 0000-0002-1736-0112, Aalfs, Cora M., Agata, Simona, Aittomaki, Kristiina, Alducci, Elisa, Concepcion Alonso-Cerezo, Maria, Arnold, Norbert ORCID: 0000-0003-4523-8808, Auber, Bernd, Austin, Rachel, Azzollini, Jacopo, Balmana, Judith ORCID: 0000-0002-0762-6415, Barbieri, Elena, Bartram, Claus R., Blanco, Ana, Bluemcke, Britta, Bonache, Sandra, Bonanni, Bernardo, Borg, Ake, Bortesi, Beatrice, Brunet, Joan ORCID: 0000-0003-1945-3512, Bruzzone, Carla, Bucksch, Karolin, Cagnoli, Giulia, Caldes, Trinidad, Caliebe, Almuth ORCID: 0000-0003-2157-425X, Caligo, Maria A., Calvello, Mariarosaria, Capone, Gabriele L., Caputo, Sandrine M., Carnevali, Ileana, Carrasco, Estela, Caux-Moncoutier, Virginie, Cavalli, Pietro, Cini, Giulia ORCID: 0000-0002-8696-8922, 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 ORCID: 0000-0002-5589-3622, 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, Kiechle, Marion, Koelbl, 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, Lopez-Fernandez, Adria, Lucci-Cordisco, Emanuela, Maass, Nicolai, Manoukian, Siranoush, Marabelli, Monica, Matricardi, Laura ORCID: 0000-0002-0241-1810, Meindl, Alfons, Michelli, Rodrigo D., Moghadasi, Setareh, Moles-Fernandez, Alejandro, Montagna, Marco, Montalban, Gemma, Monteiro, Alvaro N., Montes, Eva, Mori, Luigi, Moserle, Lidia, Mueller, 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, Francoise, Rhiem, Kerstin, Riboli, Barbara, Ritter, Julia, Rivera, Daniela ORCID: 0000-0001-7515-3608, Rofes, Paula ORCID: 0000-0001-6045-7879, Rump, Andreas, Salinas, Monica, Sanchez de Abajo, Ana Maria, 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., Teule, Alex, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia ORCID: 0000-0002-6260-1261, Toland, Amanda E., Tornero, Eva, Torngren, Therese, Torres-Esquius, Sara ORCID: 0000-0001-7540-7284, Toss, Angela, Trainer, Alison H., Tucker, Katherine M., van Asperen, Christi J., van Mackelenbergh, Marion T., Varesco, Liliana ORCID: 0000-0003-4871-6668, Vargas-Parra, Gardenia, Varon, Raymonda, Vega, Ana, Velasco, Angela, Vesper, Anne-Sophie, Viel, Alessandra ORCID: 0000-0003-2804-0840, 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, Wiesmueller, Lisa, Witzel, Isabell, Woeckel, Achim, Woodward, Emma R., Zachariae, Silke, Zampiga, Valentina, Zeder-Goss, Christine, Lazaro, Conxi, De Nicolo, Arcangela ORCID: 0000-0002-7275-5571, Radice, Paolo ORCID: 0000-0001-6298-4111, Engel, Christoph ORCID: 0000-0002-7247-282X, Schmutzler, Rita K., Goldgar, David E. and Spurdle, Amanda B. (2019). Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Hum. Mutat., 40 (9). S. 1557 - 1579. HOBOKEN: WILEY. ISSN 1098-1004

Full text not available from this repository.

Abstract

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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Parsons, Michael T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tudini, EmmaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Li, HongyanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hahnen, EricUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wappenschmidt, BarbaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Feliubadalo, LidiaUNSPECIFIEDorcid.org/0000-0002-1736-0112UNSPECIFIED
Aalfs, Cora M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Agata, SimonaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Aittomaki, KristiinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Alducci, ElisaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Concepcion Alonso-Cerezo, MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arnold, NorbertUNSPECIFIEDorcid.org/0000-0003-4523-8808UNSPECIFIED
Auber, BerndUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Austin, RachelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Azzollini, JacopoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Balmana, JudithUNSPECIFIEDorcid.org/0000-0002-0762-6415UNSPECIFIED
Barbieri, ElenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bartram, Claus R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Blanco, AnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bluemcke, BrittaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bonache, SandraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bonanni, BernardoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Borg, AkeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bortesi, BeatriceUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brunet, JoanUNSPECIFIEDorcid.org/0000-0003-1945-3512UNSPECIFIED
Bruzzone, CarlaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bucksch, KarolinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cagnoli, GiuliaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Caldes, TrinidadUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Caliebe, AlmuthUNSPECIFIEDorcid.org/0000-0003-2157-425XUNSPECIFIED
Caligo, Maria A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Calvello, MariarosariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Capone, Gabriele L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Caputo, Sandrine M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Carnevali, IleanaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Carrasco, EstelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Caux-Moncoutier, VirginieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cavalli, PietroUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cini, GiuliaUNSPECIFIEDorcid.org/0000-0002-8696-8922UNSPECIFIED
Clarke, Edward M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Concolino, PaolaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cops, Elisa J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cortesi, LauraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Couch, Fergus J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Darder, EstherUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
de la Hoya, MiguelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dean, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Debatin, IrmgardUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Del Valle, JesusUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Delnatte, CapucineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Derive, NicolasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Diez, OrlandUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ditsch, NinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Domchek, Susan M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dutrannoy, VeroniqueUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eccles, Diana M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ehrencrona, HansUNSPECIFIEDorcid.org/0000-0002-5589-3622UNSPECIFIED
Enders, UteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Evans, D. GarethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Farra, ChantalUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Faust, UlrikeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Felbor, UteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Feroce, IreneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fine, MiriamUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Foulkes, William D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Galvao, Henrique CrUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gambino, GaetanaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gehrig, AndreaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gensini, FrancescaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gerdes, Anne-MarieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Germani, AldoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Giesecke, JuttaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gismondi, VivianaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gomez, CarolinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Garcia, Encarna B. GomezUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gonzalez, SaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Grau, EliaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Grill, SabineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gross, EvaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Guerrieri-Gonzaga, AlianaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Guillaud-Bataille, MarineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gutierrez-Enriquez, SaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Haaf, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hackmann, KarlUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hansen, Thomas VoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Harris, MarionUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hauke, JanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heinrich, TilmanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hellebrand, HeideUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Herold, Karen N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Honisch, EllenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Horvath, JuditUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Houdayer, ClaudeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Huebbel, VerenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Iglesias, SilviaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Izquierdo, AngelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
James, Paul A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Janssen, Linda AmUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jeschke, UdoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kaulfuss, SilkeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Keupp, KatharinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kiechle, MarionUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Koelbl, AlexandraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Krieger, SophieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kruse, Torben A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kvist, AndersUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lalloo, FionaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Larsen, MirjamUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lattimore, Vanessa L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lautrup, CharlotteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ledig, SusanneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Leinert, ElenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lewis, Alexandra L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lim, JoannaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Loeffler, MarkusUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lopez-Fernandez, AdriaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lucci-Cordisco, EmanuelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Maass, NicolaiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Manoukian, SiranoushUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Marabelli, MonicaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Matricardi, LauraUNSPECIFIEDorcid.org/0000-0002-0241-1810UNSPECIFIED
Meindl, AlfonsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Michelli, Rodrigo D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moghadasi, SetarehUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moles-Fernandez, AlejandroUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Montagna, MarcoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Montalban, GemmaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Monteiro, Alvaro N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Montes, EvaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mori, LuigiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moserle, LidiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mueller, Clemens R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mundhenke, ChristophUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Naldi, NadiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nathanson, Katherine L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Navarro, MatildeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nevanlinna, HeliUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nichols, Cassandra B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Niederacher, DieterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nielsen, Henriette R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ong, Kai-renUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pachter, NicholasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Palmero, Edenir, IUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Papi, LauraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pedersen, Inge SokildeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Peissel, BernardUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Perez-Segura, PedroUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pfeifer, KatharinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pineda, MartaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pohl-Rescigno, EstherUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Poplawski, Nicola K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Porfirio, BerardinoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Quante, Anne S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ramser, JulianeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Reis, Rui M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Revillion, FrancoiseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rhiem, KerstinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Riboli, BarbaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ritter, JuliaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rivera, DanielaUNSPECIFIEDorcid.org/0000-0001-7515-3608UNSPECIFIED
Rofes, PaulaUNSPECIFIEDorcid.org/0000-0001-6045-7879UNSPECIFIED
Rump, AndreasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Salinas, MonicaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sanchez de Abajo, Ana MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmidt, GunnarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schoenwiese, UlrikeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Seggewiss, JochenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Solanes, AresUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Steinemann, DorisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stiller, MathiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stoppa-Lyonnet, DominiqueUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sullivan, Kelly J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Susman, RachelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sutter, ChristianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tavtigian, Sean, VUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Teo, Soo H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Teule, AlexUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thomassen, MadsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tibiletti, Maria GraziaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tischkowitz, MarcUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tognazzo, SilviaUNSPECIFIEDorcid.org/0000-0002-6260-1261UNSPECIFIED
Toland, Amanda E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tornero, EvaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Torngren, ThereseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Torres-Esquius, SaraUNSPECIFIEDorcid.org/0000-0001-7540-7284UNSPECIFIED
Toss, AngelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Trainer, Alison H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tucker, Katherine M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van Asperen, Christi J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van Mackelenbergh, Marion T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Varesco, LilianaUNSPECIFIEDorcid.org/0000-0003-4871-6668UNSPECIFIED
Vargas-Parra, GardeniaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Varon, RaymondaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vega, AnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Velasco, AngelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vesper, Anne-SophieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Viel, AlessandraUNSPECIFIEDorcid.org/0000-0003-2804-0840UNSPECIFIED
Vreeswijk, Maaike P. G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wagner, Sebastian A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Waha, AnkeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Walker, Logan C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Walters, Rhiannon J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wang-Gohrke, ShanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weber, Bernhard H. F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weichert, WilkoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wieland, KerstinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wiesmueller, LisaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Witzel, IsabellUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Woeckel, AchimUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Woodward, Emma R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zachariae, SilkeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zampiga, ValentinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zeder-Goss, ChristineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lazaro, ConxiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
De Nicolo, ArcangelaUNSPECIFIEDorcid.org/0000-0002-7275-5571UNSPECIFIED
Radice, PaoloUNSPECIFIEDorcid.org/0000-0001-6298-4111UNSPECIFIED
Engel, ChristophUNSPECIFIEDorcid.org/0000-0002-7247-282XUNSPECIFIED
Schmutzler, Rita K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Goldgar, David E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Spurdle, Amanda B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-142617
DOI: 10.1002/humu.23818
Journal or Publication Title: Hum. Mutat.
Volume: 40
Number: 9
Page Range: S. 1557 - 1579
Date: 2019
Publisher: WILEY
Place of Publication: HOBOKEN
ISSN: 1098-1004
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
SEQUENCE VARIANTS; BREAST-CANCER; UNCERTAIN SIGNIFICANCE; INTEGRATED EVALUATION; FUNCTIONAL ASSAYS; SPLICING ANALYSIS; GUIDELINES; CLINGEN; OVARIAN; RISKSMultiple languages
Genetics & HeredityMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/14261

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