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Antoniou, Antonis C., Wang, Xianshu, Fredericksen, Zachary S., McGuffog, Lesley, Tarrell, Robert, Sinilnikova, Olga M., Healey, Sue, Morrison, Jonathan, Kartsonaki, Christiana, Lesnick, Timothy, Ghoussaini, Maya, Barrowdale, Daniel 
ORCID: 0000-0003-1661-3939, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Eccles, Diana ORCID: 0000-0002-9935-3169, Evans, D. Gareth, Eeles, Ros, Izatt, Louise, Chu, Carol, Douglas, Fiona, Paterson, Joan, Stoppa-Lyonnet, Dominique, Houdayer, Claude ORCID: 0000-0002-5190-0389, Mazoyer, Sylvie ORCID: 0000-0002-2135-0160, Giraud, Sophie, Lasset, Christine, Remenieras, Audrey, Caron, Olivier, Hardouin, Agnes, Berthet, Pascaline, Hogervorst, Frans B. L., Rookus, Matti A., Jager, Agnes, van den Ouweland, Ans, Hoogerbrugge, Nicoline ORCID: 0000-0003-2393-8141, van der Luijt, Rob B., Meijers-Heijboer, Hanne, Garcia, Encarna B. Gomez, Devilee, Peter, Vreeswijk, Maaike P. G., Lubinski, Jan ORCID: 0000-0003-2931-3003, Jakubowska, Anna ORCID: 0000-0002-5650-0501, Gronwald, Jacek ORCID: 0000-0002-3643-2871, Huzarski, Tomasz ORCID: 0000-0003-3857-4854, Byrski, Tomasz, Gorski, Bohdan, Cybulski, Cezary, Spurdle, Amanda B., Holland, Helene, Goldgar, David E., John, Esther M., Hopper, John L., Southey, Melissa ORCID: 0000-0002-6313-9005, Buys, Saundra S., Daly, Mary B., Terry, Mary-Beth, Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph ORCID: 0000-0002-7247-282X, Meindl, Alfons, Preisler-Adams, Sabine, Arnold, Norbert ORCID: 0000-0003-4523-8808, Niederacher, Dieter, Sutter, Christian, Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Timothy, Blum, Joanne L., Piedmonte, Marion, Rodriguez, Gustavo C., Wakeley, Katie, Boggess, John F., Basil, Jack, Blank, Stephanie V., Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Kirchhoff, Tomas ORCID: 0000-0002-9055-2364, Vijai, Joseph, Gaudet, Mia M., Altshuler, David, Guiducci, Candace, Loman, Niklas, Harbst, Katja, Rantala, Johanna, Ehrencrona, Hans ORCID: 0000-0002-5589-3622, Gerdes, Anne-Marie ORCID: 0000-0002-0328-3320, Thomassen, Mads, Sunde, Lone ORCID: 0000-0002-8479-165X, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Manoukian, Siranoush, Bonanni, Bernardo, Viel, Alessandra ORCID: 0000-0003-2804-0840, Radice, Paolo ORCID: 0000-0001-6298-4111, Caldes, Trinidad, de la Hoya, Miguel ORCID: 0000-0002-8113-1410, Singer, Christian F., Fink-Retter, Anneliese, Greene, Mark H., Mai, Phuong L., Loud, Jennifer T., Guidugli, Lucia, Lindor, Noralane M., Hansen, Thomas V. O., Nielsen, Finn C., Blanco, Ignacio ORCID: 0000-0002-7414-7481, Lazaro, Conxi, Garber, Judy, Ramus, Susan J., Gayther, Simon A., Phelan, Catherine, Narod, Stephen, Szabo, Csilla I., Benitez, Javier, Osorio, Ana ORCID: 0000-0001-8124-3984, Nevanlinna, Heli ORCID: 0000-0002-0916-2976, Heikkinen, Tuomas ORCID: 0000-0003-1154-6204, Caligo, Maria A., Beattie, Mary S., Hamann, Ute, Godwin, Andrew K., Montagna, Marco, Casella, Cinzia, Neuhausen, Susan L., Karlan, Beth Y., Tung, Nadine, Toland, Amanda E., Weitzel, Jeffrey, Olopade, Olofunmilayo, Simard, Jacques, Soucy, Penny, Rubinstein, Wendy S., Arason, Adalgeir, Rennert, Gad, Martin, Nicholas G., Montgomery, Grant W., Chang-Claude, Jenny, Flesch-Janys, Dieter, Brauch, Hiltrud ORCID: 0000-0001-7531-2736, Severi, Gianluca ORCID: 0000-0001-7157-419X, Baglietto, Laura ORCID: 0000-0002-8193-7529, Cox, Angela ORCID: 0000-0002-5138-1099, Cross, Simon S., Miron, Penelope, Gerty, Sue M., Tapper, William ORCID: 0000-0002-5896-1889, Yannoukakos, Drakoulis ORCID: 0000-0001-7509-3510, Fountzilas, George, Fasching, Peter A., Beckmann, Matthias W., Silva, Isabel dos Santos, Peto, Julian, Lambrechts, Diether ORCID: 0000-0002-3429-302X, Paridaens, Robert, Ruediger, Thomas, Foersti, Asta, Winqvist, Robert, Pylkaes, Katri, Diasio, Robert B., Lee, Adam M., Eckel-Passow, Jeanette, Vachon, Celine, Blows, Fiona, Driver, Kristy, Dunning, Alison, Pharoah, Paul P. D., Offit, Kenneth, Pankratz, V. Shane, Hakonarson, Hakon, Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Easton, Douglas F. and Couch, Fergus J.
(2010).
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.
Nature Genet., 42 (10).
S. 885 - 896.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1546-1718
Colombo, Mara ORCID: 0000-0001-5465-354X, Blok, Marinus J., Whiley, Phillip, Santamarina, Marta, Gutierrez-Enriquez, Sara ORCID: 0000-0002-1711-6101, Romero, Atocha, Garre, Pilar, Becker, Alexandra, Smith, Lindsay Denise, De Vecchi, Giovanna, Brandao, Rita D., Tserpelis, Demis, Brown, Melissa ORCID: 0000-0002-2830-9259, Blanco, Ana, Bonache, Sandra, Menendez, Mireia, Houdayer, Claude, Foglia, Claudia ORCID: 0000-0002-5505-7667, Fackenthal, James D., Baralle, Diana ORCID: 0000-0003-3217-4833, Wappenschmidt, Barbara, Diaz-Rubio, Eduardo ORCID: 0000-0003-2792-5348, Caldes, Trinidad, Walker, Logan ORCID: 0000-0003-0018-3719, Diez, Orland, Vega, Ana, Spurdle, Amanda B., Radice, Paolo ORCID: 0000-0001-6298-4111 and De La Hoya, Miguel
(2014).
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.
Hum. Mol. Genet., 23 (14).
S. 3666 - 3681.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083
Fackenthal, James D., Yoshimatsu, Toshio ORCID: 0000-0003-2674-8159, Zhang, Bifeng, de Garibay, Gorka R., Colombo, Mara ORCID: 0000-0001-5465-354X, De Vecchi, Giovanna, Ayoub, Samantha C., Lal, Kumar, Olopade, Olufunmilayo I., Vega, Ana, Santamarina, Marta, Blanco, Ana, Wappenschmidt, Barbara, Becker, Alexandra, Houdayer, Claude, Walker, Logan C., Lopez-Perolio, Irene, Thomassen, Mads, Parsons, Michael ORCID: 0000-0003-3242-8477, Whiley, Phillip, Blok, Marinus J., Brandao, Rita D., Tserpelis, Demis, Baralle, Diana, Montalban, Gemma ORCID: 0000-0002-6958-4759, Gutierrez-Enriquez, Sara ORCID: 0000-0002-1711-6101, Diez, Orland, Lazaro, Conxi, Spurdle, Amanda B., Radice, Paolo ORCID: 0000-0001-6298-4111 and de la Hoya, Miguel ORCID: 0000-0002-8113-1410
(2016).
Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
J. Med. Genet., 53 (8).
S. 548 - 559.
LONDON:
BMJ PUBLISHING GROUP.
ISSN 1468-6244
Leman, Raphael ORCID: 0000-0003-1978-7133, Gaildrat, Pascaline ORCID: 0000-0002-6388-7628, Gac, Gerald L., Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M., Boutry-Kryza, Nadia, Leone, Melanie, Mazoyer, Sylvie ORCID: 0000-0002-2135-0160, Bonnet-Dorion, Francoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Francoise, Parsons, Michael T., Rousselin, Antoine, Davy, Gregoire, Castelain, Gaia, Castera, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Ferec, Claude, Spurdle, Amanda B., Martins, Alexandra ORCID: 0000-0003-4322-8497, Krieger, Sophie and Houdayer, Claude
(2018).
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res., 46 (15).
S. 7913 - 7924.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1362-4962
Leman, Raphael, Gaildrat, Pascaline, Gac, Gerald L., Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M., Boutry-Kryza, Nadia, Leone, Melanie, Mazoyer, Sylvie ORCID: 0000-0002-2135-0160, Bonnet-Dorion, Francoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Francoise, Parsons, Michael T., Rousselin, Antoine, Davy, Gregoire, Castelain, Gaia, Castera, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Ferec, Claude, Spurdle, Amanda B., Martins, Alexandra, Krieger, Sophie and Houdayer, Claude
(2018).
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort (vol 46, pg 7913, 2018).
Nucleic Acids Res., 46 (21).
S. 11656 - 11658.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1362-4962
Leman, Raphael, Gaildrat, Pascaline, Le Gac, Gerald, Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M., Boutry-Kryza, Nadia, Leone, Melanie, Mazoyer, Sylvie ORCID: 0000-0002-2135-0160, Bonnet-Dorion, Francoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Francoise, Parsons, Michael T., Rousselin, Antoine, Davy, Gregoire, Castelain, Gaia, Castera, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Ferec, Claude ORCID: 0000-0002-2325-0710, Spurdle, Amanda B., Martins, Alexandra, Krieger, Sophie ORCID: 0000-0001-7610-7355 and Houdayer, Claude
(2020).
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort (vol 46, pg 7913, 2018).
Nucleic Acids Res., 48 (3).
S. 1600 - 1602.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1362-4962
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
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
Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Chang-Claude, Jenny, Moysich, Kirsten B., Rudolph, Anja, Schmutzler, Rita K., Simard, Jacques, Soucy, Penny, Eeles, Rosalind A., Easton, Douglas F., Hamann, Ute, Wilkening, Stefan, Chen, Bowang, Rookus, Matti A., Schmidt, MarjankaK., van der Baan, Frederieke H., Spurdle, Amanda B., Walker, Logan C., Lose, Felicity ORCID: 0000-0001-8337-3547, Maia, Ana-Teresa ORCID: 0000-0002-0454-9207, Montagna, Marco, Matricardi, Laura ORCID: 0000-0002-0241-1810, Lubinski, Jan ORCID: 0000-0003-2931-3003, Jakubowska, Anna ORCID: 0000-0002-5650-0501, Garcia, Encarna B. Gomez, Olopade, Olufunmilayo I., Nussbaum, Robert L., Nathanson, Katherine L., Domchek, Susan M., Rebbeck, Timothy R., Arun, Banu K., Karlan, Beth Y., Orsulic, Sandra, Lester, Jenny, Chung, Wendy K., Miron, Alex, Southey, Melissa C., Goldgar, David E., Buys, Saundra S., Janavicius, Ramunas, Dorfling, Cecilia M., van Rensburg, Elizabeth J., Ding, Yuan Chun, Neuhausen, Susan L., Hansen, Thomas V. O., Gerdes, Anne-Marie ORCID: 0000-0002-0328-3320, Ejlertsen, Bent, Jonson, Lars, Osorio, Ana ORCID: 0000-0001-8124-3984, Martinez-Bouzas, Cristina, Benitez, Javier, Conway, Edye E., Blazer, Kathleen R., Weitzel, Jeffrey N., Manoukian, Siranoush, Peissel, Bernard ORCID: 0000-0001-9233-3571, Zaffaroni, Daniela ORCID: 0000-0002-6995-2216, Scuvera, Giulietta, Barile, Monica, Ficarazzi, Filomena, Mariette, Frederique, Fortuzzi, Stefano ORCID: 0000-0002-5662-3800, Viel, Alessandra ORCID: 0000-0003-2804-0840, Giannini, Giuseppe ORCID: 0000-0003-0299-4056, Papi, Laura ORCID: 0000-0003-4552-9517, Martayan, Aline, Tibiletti, Maria Grazia, Radice, Paolo ORCID: 0000-0001-6298-4111, Vratimos, Athanassios, Fostira, Florentia, Garber, Judy E., Donaldson, Alan, Brewer, Carole, Foo, Claire, Evans, D. Gareth R., Frost, Debra, Eccles, Diana ORCID: 0000-0002-9935-3169, Brady, Angela, Cook, Jackie, Tischkowitz, Marc ORCID: 0000-0002-7880-0628, Adlard, Julian ORCID: 0000-0002-1693-0435, Barwell, Julian, Walker, Lisa, Izatt, Louise, Side, Lucy E., Kennedy, M. John, Rogers, Mark T., Porteous, Mary E., Morrison, Patrick J., Platte, Radka, Davidson, Rosemarie, Hodgson, Shirley V., Ellis, Steve, Cole, Trevor, Godwin, Andrew K., Claes, Kathleen ORCID: 0000-0003-0841-7372, Van Maerken, Tom, Meindl, Alfons, Gehrig, Andrea, Sutter, Christian, Engel, Christoph ORCID: 0000-0002-7247-282X, Niederacher, Dieter, Steinemann, Doris, Plendl, Hansjoerg, Kast, Karin, Rhiem, Kerstin, Ditsch, Nina, Arnold, Norbert ORCID: 0000-0003-4523-8808, Varon-Mateeva, Raymonda, Wappenschmidt, Barbara, Wang-Gohrke, Shan, Bressac-de Paillerets, Brigitte, Buecher, Bruno, Delnatte, Capucine, Houdayer, Claude, Stoppa-Lyonnet, Dominique, Damiola, Francesca ORCID: 0000-0002-0238-1252, Coupier, Isabelle, Barjhoux, Laure, Venat-Bouvet, Laurence, Golmard, Lisa, Boutry-Kryza, Nadia, Sinilnikova, Olga M., Caron, Olivier, Pujol, Pascal, Mazoyer, Sylvie ORCID: 0000-0002-2135-0160, Belotti, Muriel, Piedmonte, Marion, Friedlander, Michael L., Rodriguez, Gustavo C., Copeland, Larry J., de la Hoya, Miguel ORCID: 0000-0002-8113-1410, Perez Segura, Pedro, Nevanlinna, Heli ORCID: 0000-0002-0916-2976, Aittomaeki, Kristiina, van Os, Theo A. M., Meijers-Heijboer, Hanne E. J., van der Hout, Annemarie H., Vreeswijk, Maaike P. G., Hoogerbrugge, Nicoline ORCID: 0000-0003-2393-8141, Ausems, Margreet G. E. M., van Doorn, Helena C., Collee, J. Margriet, Olah, Edith, Diez, Orland, Blanco, Ignacio ORCID: 0000-0002-7414-7481, Lazaro, Conxi, Brunet, Joan ORCID: 0000-0003-1945-3512, Feliubadalo, Lidia ORCID: 0000-0002-1736-0112, Cybulski, Cezary, Gronwald, Jacek ORCID: 0000-0002-3643-2871, Durda, Katarzyna, Jaworska-Bieniek, Katarzyna, Sukiennicki, Grzegorz, Arason, Adalgeir, Chiquette, Jocelyne, Teixeira, Manuel R., Olswold, Curtis, Couch, Fergus J., Lindor, Noralane M., Wang, Xianshu, Szabo, Csilla I., Offit, Kenneth, Corines, Marina, Jacobs, Lauren, Robson, Mark E., Zhang, Liying, Joseph, Vijai ORCID: 0000-0002-7933-151X, Berger, Andreas, Singer, Christian F., Rappaport, Christine, Kaulich, Daphne Geschwantler, Pfeiler, Georg, Tea, Muy-Kheng M., Phelan, Catherine M., Greene, Mark H., Mai, Phuong L., Rennert, Gad, Mulligan, Anna Marie ORCID: 0000-0002-7239-5297, Glendon, Gord, Tchatchou, Sandrine, Andrulis, Irene L., Toland, Amanda Ewart, Bojesen, Anders ORCID: 0000-0003-4289-8595, Pedersen, Inge Sokilde ORCID: 0000-0002-9902-8040, Thomassen, Mads, Jensen, Uffe Birk ORCID: 0000-0002-6205-6355, Laitman, Yael, Rantala, Johanna, von Wachenfeldt, Anna, Ehrencrona, Hans ORCID: 0000-0002-5589-3622, Askmalm, Marie Stenmark, Borg, Ake, Kuchenbaecker, Karoline B., McGuffog, Lesley, Barrowdale, Daniel ORCID: 0000-0003-1661-3939, Healey, Sue, Lee, Andrew, Pharoah, Paul D. P., Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Antoniou, Antonis C. and Friedman, Eitan
(2015).
Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
Cancer Epidemiol. Biomarkers Prev., 24 (1).
S. 308 - 317.
PHILADELPHIA:
AMER ASSOC CANCER RESEARCH.
ISSN 1538-7755
Vigorito, Elena, Kuchenbaecker, Karoline B., Beesley, Jonathan ORCID: 0000-0003-1942-325X, Adlard, Julian ORCID: 0000-0002-1693-0435, Agnarsson, Bjarni A., Andrulis, Irene L., Arun, Banu K., Barjhoux, Laure, Belotti, Muriel, Benitez, Javier, Berger, Andreas, Bojesen, Anders ORCID: 0000-0003-4289-8595, Bonanni, Bernardo, Brewer, Carole, Caldes, Trinidad, Caligo, Maria A., Campbell, Ian ORCID: 0000-0002-7773-4155, Chan, Salina B., Claes, Kathleen B. M., Cohn, David E., Cook, Jackie, Daly, Mary B., Damiola, Francesca ORCID: 0000-0002-0238-1252, Davidson, Rosemarie, de Pauw, Antoine, Delnatte, Capucine, Diez, Orland, Domchek, Susan M., Dumont, Martine, Durda, Katarzyna, Dworniczak, Bernd, Easton, Douglas F., Eccles, Diana ORCID: 0000-0002-9935-3169, Ardnor, Christina Edwinsdotter, Eeles, Ros, Ejlertsen, Bent, Ellis, Steve, Evans, D. Gareth, Feliubadalo, Lidia ORCID: 0000-0002-1736-0112, Fostira, Florentia, Foulkes, William D., Friedman, Eitan, Frost, Debra, Gaddam, Pragna, Ganz, Patricia A., Garber, Judy, Garcia-Barberan, Vanesa, Gauthier-Villars, Marion, Gehrig, Andrea, Gerdes, Anne-Marie ORCID: 0000-0002-0328-3320, Giraud, Sophie, Godwin, Andrew K., Goldgar, David E., Hake, Christopher R., Hansen, Thomas V. O., Healey, Sue, Hodgson, Shirley, Hogervorst, Frans B. L., Houdayer, Claude, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jacobs, Lauren, Jakubowska, Anna ORCID: 0000-0002-5650-0501, Janavicius, Ramunas, Jaworska-Bieniek, Katarzyna, Jensen, Uffe Birk ORCID: 0000-0002-6205-6355, John, Esther M., Vijai, Joseph, Karlan, Beth Y., Kast, Karin, Khan, Sofia ORCID: 0000-0003-4185-8882, Kwong, Ava ORCID: 0000-0002-6968-9489, Laitman, Yael, Lester, Jenny, Lesueur, Fabienne ORCID: 0000-0001-7404-4549, Liljegren, Annelie, Lubinski, Jan ORCID: 0000-0003-2931-3003, Mai, Phuong L., Manoukian, Siranoush, Mazoyer, Sylvie ORCID: 0000-0002-2135-0160, Meindl, Alfons, Mensenkamp, Arjen R., Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Olah, Edith, Olopade, Olufunmilayo I., Ong, Kai-ren, Osorio, Ana ORCID: 0000-0001-8124-3984, Park, Sue Kyung, Paulsson-Karlsson, Ylva, Pedersen, Inge Sokilde ORCID: 0000-0002-9902-8040, Peissel, Bernard ORCID: 0000-0001-9233-3571, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Pfeiler, Georg, Phelan, Catherine M., Piedmonte, Marion, Poppe, Bruce, Angel Pujana, Miquel, Radice, Paolo ORCID: 0000-0001-6298-4111, Rennert, Gad, Rodriguez, Gustavo C., Rookus, Matti A., Ross, Eric A., Schmutzler, Rita Katharina, Simard, Jacques, Singer, Christian F., Slavin, Thomas P., Soucy, Penny, Southey, Melissa ORCID: 0000-0002-6313-9005, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Sutter, Christian, Szabo, Csilla I., Tea, Muy-Kheng, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary Beth, Thomassen, Mads, Tibiletti, Maria Grazia, Tihomirova, Laima, Tognazzo, Silvia ORCID: 0000-0002-6260-1261, van Rensburg, Elizabeth J., Varesco, Liliana ORCID: 0000-0003-4871-6668, Varon-Mateeva, Raymonda, Vratimos, Athanassios, Weitzel, Jeffrey N., McGuffog, Lesley, Kirk, Judy, Toland, Amanda Ewart, Hamann, Ute, Lindor, Noralane, Ramus, Susan J., Greene, Mark H., Couch, Fergus J., Offit, Kenneth, Pharoah, Paul D. P., Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587 and Antoniou, Antonis C.
(2016).
Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
PLoS One, 11 (7).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1932-6203
Whiley, Phillip J., de la Hoya, Miguel ORCID: 0000-0002-8113-1410, Thomassen, Mads, Becker, Alexandra, Brandao, Rita, Pedersen, Inge Sokilde ORCID: 0000-0002-9902-8040, Montagna, Marco, Menendez, Mireia, Quiles, Francisco, Gutierrez-Enriquez, Sara ORCID: 0000-0002-1711-6101, De Leeneer, Kim, Tenes, Anna, Montalban, Gemma ORCID: 0000-0002-6958-4759, Tserpelis, Demis, Yoshimatsu, Toshio ORCID: 0000-0003-2674-8159, Tirapo, Carole, Raponi, Michela, Caldes, Trinidad, Blanco, Ana, Santamarina, Marta, Guidugli, Lucia, Ruiz de Garibay, Gorka, Wong, Ming, Tancredi, Mariella, Fachal, Laura ORCID: 0000-0002-7256-9752, Ding, Yuan Chun, Kruse, Torben, Lattimore, Vanessa, Kwong, Ava ORCID: 0000-0002-6968-9489, Chan, Tsun Leung, Colombo, Mara ORCID: 0000-0001-5465-354X, De Vecchi, Giovanni, Caligo, Maria, Baralle, Diana ORCID: 0000-0003-3217-4833, Lazaro, Conxi, Couch, Fergus, Radice, Paolo ORCID: 0000-0001-6298-4111, Southey, Melissa C., Neuhausen, Susan, Houdayer, Claude, Fackenthal, Jim, Hansen, Thomas Van Overeem, Vega, Ana, Diez, Orland, Blok, Rien, Claes, Kathleen ORCID: 0000-0003-0841-7372, Wappenschmidt, Barbara, Walker, Logan ORCID: 0000-0003-0018-3719, Spurdle, Amanda B. and Brown, Melissa A.
(2014).
Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing.
Clin. Chem., 60 (2).
S. 341 - 353.
WASHINGTON:
AMER ASSOC CLINICAL CHEMISTRY.
ISSN 1530-8561
Yang, Xin, Leslie, Goska, Doroszuk, Alicja, Schneider, Sandra, Allen, Jamie ORCID: 0000-0002-8677-2225, Decker, Brennan ORCID: 0000-0003-4516-7421, Dunning, Alison M., Redman, James, Scarth, James ORCID: 0000-0002-0076-6853, Plaskocinska, Inga, Luccarini, Craig, Shah, Mitul, Pooley, Karen, Dorling, Leila, Lee, Andrew, Adank, Muriel A., Adlard, Julian, Aittomaki, Kristiina, Andrulis, Irene L., Ang, Peter, Barwell, Julian, Bernstein, Jonine L., Bobolis, Kristie, Borg, Ake, Blomqvist, Carl ORCID: 0000-0003-3041-1938, Claes, Kathleen B. M., Concannon, Patrick, Cuggia, Adeline, Culver, Julie O., Damiola, Francesca, de Pauw, Antoine, Diez, Orland, Dolinsky, Jill S., Domchek, Susan M., Engel, Christoph ORCID: 0000-0002-7247-282X, Evans, D. Gareth, Fostira, Florentia, Garber, Judy, Golmard, Lisa, Goode, Ellen L., Gruber, Stephen B., Hahnen, Eric, Hake, Christopher, Heikkinen, Tuomas ORCID: 0000-0003-1154-6204, Hurley, Judith E., Janavicius, Ramunas, Kleibl, Zdenek, Kleiblova, Petra, Konstantopoulou, Irene ORCID: 0000-0002-0470-0309, Kvist, Anders, Laduca, Holly, Lee, Ann S. G., Lesueur, Fabienne, Maher, Eamonn R., Mannermaa, Arto, Manoukian, Siranoush, McFarland, Rachel, McKinnon, Wendy, Meindl, Alfons, Metcalfe, Kelly, Taib, Nur Aishah Mohd ORCID: 0000-0001-8419-0478, Moilanen, Jukka, Nathanson, Katherine L., Neuhausen, Susan, Ng, Pei Sze, Nguyen-Dumont, Tu ORCID: 0000-0002-6217-0182, Nielsen, Sarah M., Obermair, Florian, Offit, Kenneth, Olopade, Olufunmilayo, I, Ottini, Laura, Penkert, Judith, Pylkas, Katri, Radice, Paolo, Ramus, Susan J., Rudaitis, Vilius, Side, Lucy, Silva-Smith, Rachel, Silvestri, Valentina, Skytte, Anne-Bine ORCID: 0000-0002-0067-9557, Slavin, Thomas, Soukupova, Jana, Tondini, Carlo, Trainer, Alison H., Unzeitig, Gary, Usha, Lydia, Hansen, Thomas van Overeem, Whitworth, James, Wood, Marie, Yip, Cheng Har, Yoon, Sook-Yee, Yussuf, Amal, Zogopoulos, George, Goldgar, David, Hopper, John L., Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Pharoah, Paul, George, Sophia H. L., Balmana, Judith, Houdayer, Claude, James, Paul ORCID: 0000-0002-4361-4657, El-Haffaf, Zaki, Ehrencrona, Hans ORCID: 0000-0002-5589-3622, Janatova, Marketa, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Nevanlinna, Heli, Schmutzler, Rita, Teo, Soo-Hwang, Robson, Mark, Pal, Tuya, Couch, Fergus, Weitzel, Jeffrey N., Elliott, Aaron, Southey, Melissa, Winqvist, Robert, Easton, Douglas F., Foulkes, William D., Antoniou, Antonis C. and Tischkowitz, Marc
(2020).
Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.
J. Clin. Oncol., 38 (7).
S. 674 - 688.
ALEXANDRIA:
AMER SOC CLINICAL ONCOLOGY.
ISSN 1527-7755
de la Hoya, Miguel ORCID: 0000-0002-8113-1410, Soukarieh, Omar ORCID: 0000-0003-4923-4353, Lopez-Perolio, Irene, Vega, Ana, Walker, Logan C., van Ierland, Yvette, Baralle, Diana ORCID: 0000-0003-3217-4833, Santamarina, Marta, Lattimore, Vanessa, Wijnen, Juul, Whiley, Philip, Blanco, Ana, Raponi, Michela, Hauke, Jan, Wappenschmidt, Barbara, Becker, Alexandra, Hansen, Thomas V. O., Behar, Raquel, Niederacher, Diether, Arnold, Norbert ORCID: 0000-0003-4523-8808, Dworniczak, Bernd, Steinemann, Doris, Faust, Ulrike, Rubinstein, Wendy, Hulick, Peter J., Houdayer, Claude, Caputo, Sandrine M., Castera, Laurent, Pesaran, Tina, Chao, Elizabeth, Brewer, Carole, Southey, Melissa C., van Asperen, Christi J., Singer, Christian F., Sullivan, Jan, Poplawski, Nicola, Peto, Julian, Johnson, Nichola, Burwinkel, Barbara, Surowy, Harald ORCID: 0000-0002-3595-9188, Bojesen, Stig E., Flyger, Henrik, Lindblom, Annika, Margolin, Sara, Chang-Claude, Jenny, Rudolph, Anja, Radice, Paolo ORCID: 0000-0001-6298-4111, Galastri, Laura, Olson, Janet E., Hallberg, Emily, Giles, GrahamG., Milne, Roger L., Andrulis, Irene L., Glendon, Gord, Hall, Per, Czene, Kamila, Blows, Fiona, Shah, Mitul, Wang, Qin, Dennis, Joe, Michailidou, Kyriaki ORCID: 0000-0001-7065-1237, McGuffog, Lesley, Bolla, Manjeet K., Antoniou, Antonis C., Easton, Douglas F., Couch, Fergus J., Tavtigian, Sean, Vreeswijk, Maaike P., Parsons, Michael ORCID: 0000-0003-3242-8477, Meeks, Huong D., Martins, Alexandra ORCID: 0000-0003-4322-8497, Goldgar, David E. and Spurdle, Amanda B.
(2016).
Combined genetic and splicing analysis of BRCA1 c.[594-2A > C; 641A > G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Hum. Mol. Genet., 25 (11).
S. 2256 - 2269.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083