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Journal Article

Li, Hongyan, Engel, Christoph ORCID: 0000-0002-7247-282X, de la Hoya, Miguel, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Yannoukakos, Drakoulis, Livraghi, Luca ORCID: 0000-0002-9119-6277, Radice, Paolo, Thomassen, Mads, Hansen, Thomas V. O., Gerdes, Anne-Marie, Nielsen, Henriette R., Caputo, Sandrine M. ORCID: 0000-0001-5338-9388, Zambelli, Alberto ORCID: 0000-0002-1374-1831, Borg, Ake, Solano, Angela, Thomas, Abigail, Parsons, Michael T., Antoniou, Antonis C., Leslie, Goska, Yang, Xin, Chenevix-Trench, Georgia, Caldes, Trinidad, Kwong, Ava, Pedersen, Inge Sokilde, Lautrup, Charlotte K., John, Esther M., Terry, Mary Beth ORCID: 0000-0002-4106-5033, Hopper, John L., Southey, Melissa C., Andrulis, Irene L., Tischkowitz, Marc, Janavicius, Ramunas, Boonen, Susanne E. ORCID: 0000-0002-7824-2080, Kroeldrup, Lone, Varesco, Liliana, Hamann, Ute, Vega, Ana, Palmero, Edenir, I, Garber, Judy, Montagna, Marco, Van Asperen, Christi J., Foretova, Lenka, Greene, Mark H., Selkirk, Tina, Moller, Pal, Toland, Amanda E., Domchek, Susan M., James, Paul A., Thorne, Heather, Eccles, Diana M., Nielsen, Sarah M., Manoukian, Siranoush, Pasini, Barbara ORCID: 0000-0002-4373-1212, Caligo, Maria A., Lazaro, Conxi, Kirk, Judy, Wappenschmidt, Barbara, Spurdle, Amanda B., Couch, Fergus J., Schmutzler, Rita and Goldgar, David E. (2022). Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants. Genet. Med., 24 (1). S. 119 - 130. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1530-0366

Rebbeck, Timothy R., Friebel, Tara M., Friedman, Eitan, Hamann, Ute, Huo, Dezheng, Kwong, Ava ORCID: 0000-0002-6968-9489, Olah, Edith, Olopade, Olufunmilayo I., Solano, Angela R., Teo, Soo-Hwang, Thomassen, Mads, Weitzel, Jeffrey N., Chan, T. L., Couch, Fergus J., Goldgar, David E., Kruse, Torben A., Palmero, Edenir Inez, Park, Sue Kyung, Torres, Diana, van Rensburg, Elizabeth J., McGuffog, Lesley, Parsons, Michael T., Leslie, Goska, Aalfs, Cora M., Abugattas, Julio, Adlard, Julian, Agata, Simona, Aittomaki, Kristiina, Andrews, Lesley, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert ORCID: 0000-0003-4523-8808, Arun, Banu K., Asseryanis, Ella, Auerbach, Leo, Azzollini, Jacopo ORCID: 0000-0002-9364-9778, Balmana, Judith ORCID: 0000-0002-0762-6415, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Benitez, Javier, Berger, Andreas, Berger, Raanan, Blanco, Amie M., Blazer, Kathleen R., Blok, Marinus J., Bonadona, Valerie, Bonanni, Bernardo, Bradbury, Angela R., Brewer, Carole, Buecher, Bruno, Buys, Saundra S., Caldes, Trinidad, Caliebe, Almuth ORCID: 0000-0003-2157-425X, Caligo, Maria A., Campbell, Ian, Caputo, Sandrine M., Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M., Collee, J. Margriet, Cook, Jackie, Davidson, Rosemarie, de la Hoya, Miguel ORCID: 0000-0002-8113-1410, De Leeneer, Kim, de Pauw, Antoine, Delnatte, Capucine, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, SusanM., Dorfling, Cecilia M., Velazquez, Carolina, Dworniczak, Bernd, Eason, Jacqueline, Easton, Douglas F., Eeles, Ros, Ehrencrona, Hans ORCID: 0000-0002-5589-3622, Ejlertsen, Bent, Engel, Christoph ORCID: 0000-0002-7247-282X, Engert, Stefanie, Evans, D. Gareth, Faivre, Laurence, Feliubadalo, Lidia ORCID: 0000-0002-1736-0112, Ferrer, Sandra Fert, Foretova, Lenka, Fowler, Jeffrey, Frost, Debra, Galvao, Henrique C. R., Ganz, Patricia A., Garber, Judy, Gauthier-Villars, Marion, Gehrig, Andrea, Gerdes, Anne-Marie ORCID: 0000-0002-0328-3320, Gesta, Paul, Giannini, Giuseppe ORCID: 0000-0003-0299-4056, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K., Greene, Mark H., Gronwald, Jacek, Gutierrez-Barrera, Angelica, Hahnen, Eric, Hauke, Jan, Henderson, Alex, Hentschel, Julia, Hogervorst, Frans B. L., Honisch, Ellen, Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna ORCID: 0000-0002-5650-0501, James, Paul ORCID: 0000-0002-4361-4657, Janavicius, Ramunas, Jensen, Uffe Birk ORCID: 0000-0002-6205-6355, John, Esther M., Vijai, Joseph, Kaczmarek, Katarzyna, Karlan, Beth Y., Kast, Karin, Kim, Sung-Won, Konstantopoulou, Irene ORCID: 0000-0002-0470-0309, Korach, Jacob, Laitman, Yael, Lasa, Adriana, Lasset, Christine, Lazaro, Conxi, Lee, Annette, Lee, Min Hyuk, Lester, Jenny, Lesueur, Fabienne ORCID: 0000-0001-7404-4549, Liljegren, Annelie, Lindor, Noralane M., Longy, Michel, Loud, Jennifer T., Lu, Karen H., Lubinski, Jan ORCID: 0000-0003-2931-3003, Machackova, Eva, Manoukian, Siranoush, Mari, Veronique, Martinez-Bouzas, Cristina, Matrai, Zoltan, Mebirouk, Noura, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Mensenkamp, Arjen R., Mickys, Ugnius, Miller, Austin, Montagna, Marco, Moysich, Kirsten B., Mulligan, Anna Marie ORCID: 0000-0002-7239-5297, Musinsky, Jacob, Neuhausen, Susan L., Nevanlinna, Heli, Ngeow, Joanne ORCID: 0000-0003-1558-3627, Nguyen, Huu Phuc, Niederacher, Dieter, Nielsen, Henriette Roed, Nielsen, Finn Cilius, Nussbaum, Robert L., Offit, Kenneth, Ofverholm, Anna, Ong, Kai-ren, Osorio, Ana ORCID: 0000-0001-8124-3984, Papi, Laura, Papp, Janos, Pasini, Barbara, Pedersen, Inge Sokilde, Peixoto, Ana ORCID: 0000-0002-1404-5897, Peruga, Nina, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Pohl, Esther, Pradhan, Nisha, Prajzendanc, Karolina, Prieur, Fabienne, Pujol, Pascal, Radice, Paolo ORCID: 0000-0001-6298-4111, Ramus, Susan J., Rantala, Johanna, Rashid, Muhammad Usman, Rhiem, Kerstin, Robson, Mark, Rodriguez, Gustavo C., Rogers, Mark T., Rudaitis, Vilius, Schmidt, Ane Y., Schmutzler, Rita Katharina, Senter, Leigha, Shah, Payal D., Sharma, Priyanka, Side, Lucy E., Simard, Jacques, Singer, Christian F., Skytte, Anne-Bine ORCID: 0000-0002-0067-9557, Slavin, Thomas P., Snape, Katie, Sobol, Hagay, Southey, Melissa ORCID: 0000-0002-6313-9005, Steele, Linda, Steinemann, Doris, Sukiennicki, Grzegorz, Sutter, Christian, Szabo, Csilla I., Tan, Yen Y., Teixeira, Manuel R., Terry, Mary Beth, Teule, Alex ORCID: 0000-0003-0028-7200, Thomas, Abigail, Thull, Darcy L., Tischkowitz, Marc ORCID: 0000-0002-7880-0628, Tognazzo, Silvia ORCID: 0000-0002-6260-1261, Toland, Amanda Ewart, Topka, Sabine ORCID: 0000-0002-7767-4471, Trainer, Alison H., Tung, Nadine, van Asperen, Christi J., van der Hout, Annemieke H., van der Kolk, Lizet E., van der Luijt, Rob B., Van Heetvelde, Mattias, Varesco, Liliana ORCID: 0000-0003-4871-6668, Varon-Mateeva, Raymonda, Vega, Ana, Villarreal-Garza, Cynthia ORCID: 0000-0003-3587-339X, von Wachenfeldt, Anna, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weber, Bernhard H. F., Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Zidan, Jamal, Zorn, Kristin K., Selkirk, Christina G. Hutten, Hulick, Peter J., Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Spurdle, Amanda B., Antoniou, Antonis C. and Nathanson, Katherine L. (2018). Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Hum. Mutat., 39 (5). S. 593 - 621. HOBOKEN: WILEY. ISSN 1098-1004

Silvestri, Valentina ORCID: 0000-0003-0712-9379, Barrowdale, Daniel ORCID: 0000-0003-1661-3939, Mulligan, Anna Marie ORCID: 0000-0002-7239-5297, Neuhausen, Susan L., Fox, Stephen ORCID: 0000-0002-7648-8896, Karlan, Beth Y., Mitchell, Gillian, James, Paul ORCID: 0000-0002-4361-4657, Thull, Darcy L., Zorn, Kristin K., Carter, Natalie J., Nathanson, Katherine L., Dornchek, Susan M., Rebbeck, Timothy R., Ramus, Susan J., Nussbaum, Robert L., Olopade, Olufunrnilayo I., Rantala, Johanna, Yoon, Sook-Yee, Caligo, Maria A., Spugnesi, Laura, Bojesen, Anders ORCID: 0000-0003-4289-8595, Pedersen, Inge Sokilde ORCID: 0000-0002-9902-8040, Thomassen, Muds, Jensen, Uffe Birk ORCID: 0000-0002-6205-6355, Toland, Amanda Ewart, Senter, Leigha, Andrulis, Irene L., Glendon, Gord, Hulick, Peter J., Irnyanitov, Evgeny N., Greene, Mark H., Mai, Phuong L., Singer, Christian F., Rappaport-Fuerhauser, Christine, Kramer, Gero, Vijai, Joseph, Offit, Kenneth, Robson, Mark ORCID: 0000-0002-3109-1692, Lincoln, Anne, Jacobs, Lauren, Machackova, Eva ORCID: 0000-0002-0246-1471, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra ORCID: 0000-0002-4518-5403, Couch, Fergus J., Hallberg, Emily, Ruddy, Kathryn J., Sharma, Priyanka ORCID: 0000-0001-8592-2239, Kim, Sung-Won, Teixeira, Manuel R., Pinte, Pedro, Montagna, Marco, Matricardi, Laura ORCID: 0000-0002-0241-1810, Arason, Adalgeir, Johannsson, Oskar Th, Barkardottir, Rosa B., Jakubowska, Anna ORCID: 0000-0002-5650-0501, Lubinski, Jan ORCID: 0000-0003-2931-3003, Izquierdo, Angel, Angel Pujana, Miguel, Balmana, Judith ORCID: 0000-0002-0762-6415, Diez, Orland, Ivady, Gabriella, Papp, Janos, Olah, Edith, Kwong, Ava ORCID: 0000-0002-6968-9489, Nevanlinna, Heli, Aittomaki, Kristiina, Perez Segura, Pedro, Caldes, Trinidad, Van Maerken, Tom, Poppe, Bruce, Claes, Kathleen B. M., Isaacs, Claudine, Elan, Camille, Lasset, Christine, Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Belotti, Muriel, Meindl, Alfons, Gehrig, Andrea, Sutter, Christian, Enger, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Kast, Karin, Arnold, Norbert ORCID: 0000-0003-4523-8808, Varon-Mateeva, Raymonda, Wand, Dorothea, Godwin, Andrew K., Evans, D. Gareth, Frost, Debra, Perkins, Jo, Adlard, Julian ORCID: 0000-0002-1693-0435, Izatt, Louise, Platte, Radka, Eeles, Ros, Ellis, Steve, Hamann, Ute, Garber, Judy, Fostira, Florentia, Fountzilas, George, Pasini, Barbara, Giannini, Giuseppe ORCID: 0000-0003-0299-4056, Rizzolo, Piera ORCID: 0000-0002-3421-1485, Russo, Antonio, Cortesi, Laura, Papi, Laura ORCID: 0000-0003-4552-9517, Varesco, Liliana ORCID: 0000-0003-4871-6668, Palli, Domenico, Zanna, Ines ORCID: 0000-0002-5710-6506, Savarese, Antonella, Radice, Paolo ORCID: 0000-0001-6298-4111, Manoukian, Siranoush, Peissel, Bernard ORCID: 0000-0001-9233-3571, Barile, Monica, Bonanni, Bernardo, Viel, Alessandra ORCID: 0000-0003-2804-0840, Pensotti, Valeria, Tommasi, Stefania ORCID: 0000-0002-2157-2978, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Weitzel, Jeffrey N., Osorio, Ana ORCID: 0000-0001-8124-3984, Benitez, Javier, McGuffog, Lesley, Healey, Sue, Gerdes, Anne-Marie ORCID: 0000-0002-0328-3320, Ejlertsen, Bent, Hansen, Thomas V. O., Steele, Linda, Ding, Yuan Chun, Tung, Nadine, Janavicius, Ramunas, Goldgar, David E., Buys, Saundra S., Daly, Mary B., Bane, Anita, Terry, Mary Beth, John, Esther M., Southey, Melissa ORCID: 0000-0002-6313-9005, Easton, Douglas F., Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Antoniou, Antonis C. and Ottini, Laura (2016). Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res., 18. LONDON: BMC. ISSN 1465-542X

Spurdle, Amanda B., Couch, Fergus J., Parsons, Michael T., McGuffog, Lesley, Barrowdale, Daniel ORCID: 0000-0003-1661-3939, Bolla, Manjeet K., Wang, Qin, Healey, Sue, Schmutzler, Rita Katharina, Wappenschmidt, Barbara, Rhiem, Kerstin, Hahnen, Eric, Engel, Christoph ORCID: 0000-0002-7247-282X, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert ORCID: 0000-0003-4523-8808, Plendl, Hansjoerg, Niederacher, Dieter, Sutter, Christian, Wang-Gohrke, Shan, Steinemann, Doris, Preisler-Adams, Sabine, Kast, Karin, Varon-Mateeva, Raymonda, Ellis, Steve, Frost, Debra, Platte, Radka, Perkins, Jo, Evans, D. Gareth, Izatt, Louise, Eeles, Ros, Adlard, Julian ORCID: 0000-0002-1693-0435, Davidson, Rosemarie, Cole, Trevor, Scuvera, Giulietta, Manoukian, Siranoush, Bonanni, Bernardo, Mariette, Frederique, Fortuzzi, Stefano, Viel, Alessandra ORCID: 0000-0003-2804-0840, Pasini, Barbara, Papi, Laura ORCID: 0000-0003-4552-9517, Varesco, Liliana ORCID: 0000-0003-4871-6668, Balleine, Rosemary, Nathanson, Katherine L., Domchek, Susan M., Offitt, Kenneth, Jakubowska, Anna ORCID: 0000-0002-5650-0501, Lindor, Noralane, Thomassen, Mads, Jensen, Uffe Birk ORCID: 0000-0002-6205-6355, Rantala, Johanna, Borg, Ake, Andrulis, Irene L., Miron, Alexander, Hansen, Thomas V. O., Caldes, Trinidad, Neuhausen, Susan L., Toland, Amanda E., Nevanlinna, Heli, Montagna, Marco, Garber, Judy, Godwin, Andrew K., Osorio, Ana, Factor, Rachel E., Terry, Mary B., Rebbeck, Timothy R., Karlan, Beth Y., Southey, Melissa ORCID: 0000-0002-6313-9005, Rashid, Muhammad Usman ORCID: 0000-0002-7684-3122, Tung, Nadine, Pharoah, Paul D. P., Blows, Fiona M., Dunning, Alison M., Provenzano, Elena, Hall, Per, Czene, Kamila, Schmidt, Marjanka K., Broeks, Annegien, Cornelissen, Sten, Verhoef, Senno, Fasching, Peter A., Beckmann, Matthias W., Ekici, Arif B., Slamon, Dennis J., Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Chang-Claude, Jenny, Flesch-Janys, Dieter, Rudolph, Anja, Seibold, Petra, Aittomaki, Kristiina, Muranen, Taru A., Heikkila, Paivi, Blomqvist, Carl, Figueroa, Jonine, Chanock, Stephen J., Brinton, Louise, Lissowska, Jolanta ORCID: 0000-0003-2695-5799, Olson, Janet E., Pankratz, Vernon S., John, Esther M., Whittemore, Alice S., West, Dee W., Hamann, Ute, Torres, Diana, Ulmer, Hans Ulrich, Rudiger, Thomas, Devilee, Peter ORCID: 0000-0002-8023-2009, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Eccles, Diana M., Tapper, William J., Durcan, Lorraine, Jones, Louise, Peto, Julian, dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Dwek, Miriam ORCID: 0000-0001-7184-2932, Swann, Ruth, Bane, Anita L., Glendon, Gord, Mulligan, Anna M., Giles, Graham G., Milne, Roger L., Baglietto, Laura, McLean, Catriona, Carpenter, Jane, Clarke, Christine ORCID: 0000-0001-7568-111X, Scott, Rodney, Brauch, Hiltrud ORCID: 0000-0001-7531-2736, Bruning, Thomas ORCID: 0000-0001-9560-5464, Ko, Yon-Dschun, Cox, Angela ORCID: 0000-0002-5138-1099, Cross, Simon S., Reed, Malcolm W. R., Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Gronwald, Jacek ORCID: 0000-0002-3643-2871, Dork, Thilo ORCID: 0000-0002-9458-0282, Bogdanova, Natalia, Park-Simon, Tjoung-Won, Hillemanns, Peter, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick ORCID: 0000-0002-3073-7463, Le Marchand, Loic, Burwinkel, Barbara, Marme, Frederik, Surovy, Harald, Yang, Rongxi, Anton-Culver, Hoda, Ziogas, Argyrios, Hooning, Maartje J., Collee, J. Margriet, Martens, John W. M., Tilanus-Linthorst, Madeleine M. A., Brenner, Hermann ORCID: 0000-0002-6129-1572, Dieffenbach, Aida Karina, Arndt, Volke, Stegmaier, Christa, Winqvist, Robert, Pylkas, Katri ORCID: 0000-0002-2449-0521, Jukkola-Vuorinen, Arja, Grip, Mervi, Lindblom, Annika, Margolin, Sara, Joseph, Vijai ORCID: 0000-0002-7933-151X, Robson, Mark, Rau-Murthy, Rohini, Gonzalez-Neira, Anna, Arias, Jose Ignacio, Zamora, Pilar, Benitez, Javier, Mannermaa, Arto, Kataja, Vesa ORCID: 0000-0003-4846-4843, Kosma, Veli-Matti, Hartikainen, Jaana M., Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Zaffaroni, Daniela ORCID: 0000-0002-6995-2216, Barile, Monica, Capra, Fabio, Radice, Paolo ORCID: 0000-0001-6298-4111, Teo, Soo H., Easton, Douglas F., Antoniou, Antonis C., Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587 and Goldgar, David E. (2014). Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia. Breast Cancer Res., 16 (6). LONDON: BMC. ISSN 1465-5411

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