 | Up a level |
2019
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
2018
Moghadasi, Setareh, Meeks, Huong D., Vreeswijk, Maaike P. G., Janssen, Linda A. M., Borg, Ake, Ehrencrona, Hans ORCID: 0000-0002-5589-3622, Paulsson-Karlsson, Ylva, Wappenschmidt, Barbara, Engel, Christoph ORCID: 0000-0002-7247-282X, Gehrig, Andrea, Arnold, Norbert ORCID: 0000-0003-4523-8808, Hansen, Thomas Van Overeem, Thomassen, Mads, Jensen, Uffe Birk ORCID: 0000-0002-6205-6355, Kruse, Torben A., Ejlertsen, Bent, Gerdes, Anne-Marie ORCID: 0000-0002-0328-3320, Pedersen, Inge Sokilde, Caputo, Sandrine M., Couch, Fergus, Hallberg, Emily J., van den Ouweland, Ans M. W., Collee, Margriet J., Teugels, Erik ORCID: 0000-0002-7828-4555, Adank, Muriel A., van der Luijt, Rob B., Mensenkamp, Arjen R., Oosterwijk, Jan C., Blok, Marinus J., Janin, Nicolas, Claes, Kathleen B. M., Tucker, Kathy, Viassolo, Valeria, Toland, Amanda Ewart, Eccles, Diana E., Devilee, Peter ORCID: 0000-0002-8023-2009, Van Asperen, Christie J., Spurdle, Amanda B., Goldgar, David E. and Garcia, Encarna Gomez
(2018).
The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
J. Med. Genet., 55 (1).
S. 15 - 21.
LONDON:
BMJ PUBLISHING GROUP.
ISSN 1468-6244
Nielsen, Sarah M., Eccles, Diana M., Romero, Iris L., Al-Mulla, Fand, Balmana, Judith, Biancolella, Michela, Blok, Rien, Caligo, Maria Adelaide, Calvello, Mariarosaria ORCID: 0000-0003-2113-8503, Capone, Gabriele Lorenzo, Cavalli, Pietro, Chan, T. L. Chris, Claes, Kathleen B. M., Cortesi, Laura, Couch, Fergus J., de la Hoya, Miguel, de Toffol, Simona, Diez, Orland, Domchek, Susan M., Eeles, Ros, Efremidis, Anna, Fostira, Florentia, Goldgar, David, Hadjisavvas, Andreas, Hansen, Thomas v O., Hirasawa, Akira, Houdayer, Claude, Kleiblova, Petra, Krieger, Sophie, Lazaro, Conxi, Loizidou, Maria, Manoukian, Siranoush, Mensenkamp, Arjen R., Moghadasi, Setareh, Monteiro, Alvaro N., Mori, Luigi, Morrow, April, Naldi, Nadia, Nielsen, Henriette R., Olopade, Olufunmilayo, I, Pachter, Nicholas S., Palrnero, Edenir, I, Pedersen, Inge S., Piane, Maria, Puzzo, Marianna, Robson, Mark, Rossing, Maria, Sini, Maria Christina, Solano, Angela, Soukupova, Jana, Tedaldi, Gianluca ORCID: 0000-0003-0540-6694, Teixeira, Manuel ORCID: 0000-0002-4896-5982, Thomassen, Mads, Tibiletti, Maria Grazia, Toland, Amanda, Torngren, Therese, Vaccari, Erica, Varesco, Liliana ORCID: 0000-0003-4871-6668, Vega, Ana, Wallis, Yvonne, Wappenschmidt, Barbara, Weitzel, Jeffrey, Spurdle, Amanda B., De Nicolo, Arcangela ORCID: 0000-0002-7275-5571 and Gomez-Garcia, Encarna B.
(2018).
Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.
JCO Precis. Oncol., 2.
ALEXANDRIA:
AMER SOC CLINICAL ONCOLOGY.
ISSN 2473-4284
Tudini, Emma, Moghadasi, Setareh, Parsons, Michael T., van der Kolk, Lizet, van den Ouweland, Ans M. W., Niederacher, Dieter, Feliubadalo, Lidia ORCID: 0000-0002-1736-0112, Wappenschmidt, Barbara, Spurdle, Amanda B. and Lazaro, Conxi
(2018).
Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G > T p.(Gly1770Val).
Breast Cancer Res. Treat., 172 (2).
S. 497 - 504.
NEW YORK:
SPRINGER.
ISSN 1573-7217