Universität zu Köln

Journal Article

Behrens, Maria I., Brueggemann, Norbert, Chana, Pedro ORCID: 0000-0001-9946-3299, Venegas, Pablo, Kaegi, Marianne, Parrao, Teresa, Orellana, Patricia, Garrido, Cristian, Rojas, Cecilia V., Hauke, Jan, Hahnen, Eric, Gonzalez, Rafael, Seleme, Nicolas, Fernandez, Veronica, Schmidt, Alexander, Binkofski, Ferdinand ORCID: 0000-0002-6750-943X, Koempf, Detlef, Kubisch, Christian ORCID: 0000-0003-4220-0978, Hagenah, Johann, Klein, Christine and Ramirez, Alfredo ORCID: 0000-0003-4991-763X (2010). Clinical Spectrum of Kufor-Rakeb Syndrome in the Chilean Kindred with ATP13A2 Mutations. Mov. Disord., 25 (12). S. 1929 - 1938. HOBOKEN: WILEY. ISSN 1531-8257

Borde, Julika, Ernst, Corinna, Weber-Lassalle, Konstantin, Niederacher, Dieter, Hauke, Jan, Horvath, Judit, Weber-Lassalle, Nana, Meindl, Alfons, Bernd, Auber, Pohl-Rescigno, Esther, Arnold, Norbert, Lee, Andrew, Engel, Christoph, Wappenschmidt, Barbara, Schmidt, Marjanka, Antoniou, Antonis, Schmutzler, Rita Katharina, Kuchenbaecker, Karoline and Hahnen, Eric (2020). Breast Cancer Risk in Familial CHEK2 Germline Mutation Carriers is Modified by the Polygenic Risk Score: A Multicenter Study by the German Consortium for Hereditary Breast and Ovarian Cancer. Oncol. Res. Treat., 43. S. 20 - 22. BASEL: KARGER. ISSN 2296-5262

Catucci, Irene, Osorio, Ana ORCID: 0000-0001-8124-3984, Arver, Brita, Neidhardt, Guido, Bogliolo, Massimo ORCID: 0000-0001-8240-7784, Zanardi, Federica, Riboni, Mirko, Minardi, Simone, Pujol, Roser, Azzollini, Jacopo ORCID: 0000-0002-9364-9778, Peissel, Bernard, Manoukian, Siranoush, De Vecchi, Giovanna, Casola, Stefano ORCID: 0000-0001-5580-0986, Hauke, Jan, Richters, Lisa, Rhiem, Kerstin, Schmutzler, Rita K., Wallander, Karin ORCID: 0000-0001-8166-9678, Torngren, Therese, Borg, Ake, Radice, Paolo ORCID: 0000-0001-6298-4111, Surralles, Jordi, Hahnen, Eric, Ehrencrona, Hans ORCID: 0000-0002-5589-3622, Kvist, Anders ORCID: 0000-0002-1358-0695, Benitez, Javier and Peterlongo, Paolo ORCID: 0000-0001-6951-6855 (2018). Individuals with &ITFANCM&IT biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility. Genet. Med., 20 (4). S. 452 - 458. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Colombo, Mara ORCID: 0000-0001-5465-354X, Lopez-Perolio, Irene, Meeks, Huong D., Caleca, Laura ORCID: 0000-0002-3381-7493, Parsons, Michael T., Li, Hongyan, De Vecchi, Giovanna, Tudini, Emma, Foglia, Claudia, Mondini, Patrizia, Manoukian, Siranoush, Behar, Raquel, Garcia, Encarna B. Gomez, Meindl, Alfons, Montagna, Marco, Niederacher, Dieter, Schmidt, Ane Y., Varesco, Liliana ORCID: 0000-0003-4871-6668, Wappenschmidt, Barbara, Bolla, Manjeet K., Dennis, Joe, Michailidou, Kyriaki ORCID: 0000-0001-7065-1237, Wang, Qin, Aittomaki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker ORCID: 0000-0001-9320-8684, Beckmann, Matthias W., Beeghly-Fadel, Alicia, Benitez, Javier, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Stig E., Bonanni, Bernardo, Brauch, Hiltrud ORCID: 0000-0001-7531-2736, Brenner, Hermann ORCID: 0000-0002-6129-1572, Burwinkel, Barbara, Chang-Claude, Jenny, Conroy, Don M., Couch, Fergus J., Cox, Angela ORCID: 0000-0002-5138-1099, Cross, Simon S., Czene, Kamila, Devilee, Peter, Dork, Thilo ORCID: 0000-0002-9458-0282, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine, Fletcher, Olivia ORCID: 0000-0001-9387-7116, Flyger, Henrik, Gabrielson, Marike ORCID: 0000-0002-3171-1556, Garcia-Closas, Montserrat, Giles, Graham G., Gonzalez-Neira, Anna ORCID: 0000-0002-5421-2020, Guenel, Pascal ORCID: 0000-0002-8359-518X, Haiman, Christopher A., Hall, Per, Hamann, Ute, Hartman, Mikael ORCID: 0000-0001-5726-9965, Hauke, Jan, Hollestelle, Antoinette, Hopper, John L., Jakubowska, Anna ORCID: 0000-0002-5650-0501, Jung, Audrey ORCID: 0000-0003-0875-6673, Kosma, Veli-Matti, Lambrechts, Diether ORCID: 0000-0002-3429-302X, Le Marchand, Loid, Lindblom, Annika, Lubinski, Jan ORCID: 0000-0003-2931-3003, Mannermaa, Arto, Margolin, Sara, Miao, Hui, Milne, Roger L., Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Peto, Julian, Pylkas, Katri ORCID: 0000-0002-2449-0521, Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., See, Mee Hoong ORCID: 0000-0002-3966-3368, Southey, Melissa C., Swerdlow, Anthony ORCID: 0000-0001-5550-4159, Teo, Soo H., Toland, Amanda E., Tomlinson, Ian, Truong, Therese, van Asperen, Christi J., van den Ouweland, Ans M. W., van der Kolk, Lizet E., Winqvist, Robert, Yannoukakos, Drakoulis, Zheng, Wei, Dunning, Alison M., Easton, Douglas F., Henderson, Alex, Hogervorst, Frans B. L., Izatt, Louise, Offitt, Kenneth, Side, Lucy E., van Rensburg, Elizabeth J., McGuffog, Lesley, Antoniou, Antonis C., Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Spurdle, Amanda B., Goldgar, David E., de la Hoya, Miguel ORCID: 0000-0002-8113-1410 and Radice, Paolo ORCID: 0000-0001-6298-4111 (2018). The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity. Hum. Mutat., 39 (5). S. 729 - 742. HOBOKEN: WILEY. ISSN 1098-1004

Dork, Thilo ORCID: 0000-0002-9458-0282, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Mannermaa, Arto, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Ahearn, Thomas, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker ORCID: 0000-0001-9320-8684, Aronson, Kristan J., Augustinsson, Annelie ORCID: 0000-0003-3415-0536, Freeman, Laura E. Beane, Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Behrens, Sabine, Bermisheva, Marina, Blomqvist, Carl ORCID: 0000-0003-3041-1938, Bogdanova, Natalia, V, Bojesen, Stig E., Brauch, Hiltrud ORCID: 0000-0001-7531-2736, Brenner, Hermann, Burwinkel, Barbara, Canzian, Federico ORCID: 0000-0002-4261-4583, Chan, Tsun L., Chang-Claude, Jenny, Chanock, Stephen J., Choi, Ji-Yeob, Christiansen, Hans, Clarke, Christine L., Couch, Fergus J., Czene, Kamila, Daly, Mary B., dos-Santos-Silva, Isabel, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Fritschisl, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, Gao, Chi, Gapstur, Susan M., Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Gaudet, Mia M., Giles, Graham G., Goldberg, Mark S., Goldgar, David E., Guenel, Pascal ORCID: 0000-0002-8359-518X, Haeberle, Lothar, Haiman, Christopher A., Hakansson, Niclas, Hall, Per, Hamann, Ute, Hartman, Mikael, Hauke, Jan, Hein, Alexander, Hillemanns, Peter, Hogervorst, Frans B. L., Hooning, Maartje J., Hopper, John L., Howell, Tony, Huo, Dezheng, Ito, Hidemi, Iwasaki, Motoki, Jakubowska, Anna ORCID: 0000-0002-5650-0501, Janni, Wolfgang, John, Esther M., Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Kapoor, Pooja Middha, Khusnutdinova, Elza, Kim, Sung-Won, Kitahara, Cari M., Koutros, Stella, Kraft, Peter ORCID: 0000-0002-4472-8103, Kristensen, Vessela N., Kwon, Ava, Lambrechts, Diether ORCID: 0000-0002-3429-302X, Le Marchand, Loic, Li, Jingmei ORCID: 0000-0001-8587-7511, Lindstrom, Sara, Linet, Martha, Lo, Wing-Yee, Long, Jirong, Lophatananon, Artitaya, Lubinski, Jan, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Elena, Matsuo, Keitaro ORCID: 0000-0003-1761-6314, Mavroudis, Dimitris, Meindl, Alfons, Menon, Usha ORCID: 0000-0003-3708-1732, Milne, Roger L., Taib, Nur Aishah Mohd ORCID: 0000-0001-8419-0478, Muir, Kenneth, Mulligan, Anna Marie, Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Newman, William G., Offit, Kenneth, Olopade, Olufunmilayo, I, Olshan, Andrew F., Olson, Janet E., Olsson, Hakan ORCID: 0000-0002-8794-9635, Park, Sue K., Park-Simon, Tjoung-Won, Peto, Julian, Plaseska-Karanfilska, Dijana, Pohl-Rescigno, Esther, Presneau, Nadege, Rack, Brigitte, Radice, Paolo ORCID: 0000-0001-6298-4111, Rashid, Muhammad U., Rennert, Gad, Rennert, Hedy S., Romero, Atocha, Ruebner, Matthias, Saloustros, Emmanouil ORCID: 0000-0002-0485-0120, Schmidt, Marjanka K., Schmutzler, Rita K., Schneider, Michael O., Schoemaker, Minouk J., Scott, Christopher, Shen, Chen-Yang, Shu, Xiao-Ou, Simard, Jacques, Slager, Susan, Smichkoska, Snezhana, Southey, Melissa C., Spinelli, John J., Stone, Jennifer ORCID: 0000-0001-5077-0124, Surowy, Harald, Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Teo, Soo H., Terry, Mary Beth, Toland, Amanda E., Tollenaar, Rob A. E. M., Torres, Diana, Torres-Mejia, Gabriela ORCID: 0000-0003-4052-6392, Troester, Melissa A., Truong, Therese, Tsugane, Shoichiro, Untch, Michael, Vachon, Celine M., van den Ouweland, Ans M. W., van Veen, Elke M., Vijai, Joseph, Wendt, Camilla, Wolk, Alicja, Yu, Jyh-Cherng, Zheng, Wei, Ziogas, Argyrios, Ziv, Elad, Dunning, Alison M., Pharoah, Paul D. P., Schindler, Detlev, Devilee, Peter, Easton, Douglas F., Balleine, Rosemary, Baxter, Robert, Braye, Stephen, Carpenter, Jane, Dahlstrom, Jane, Forbes, John, Lee, C. Soon, Marsh, Deborah, Morey, Adrienne, Pathmanathan, Nirmala, Scott, Rodney, Simpson, Peter, Spigelman, Allan, Wilcken, Nicholas, Yip, Desmond ORCID: 0000-0002-2806-2401, Zeps, Nikolajs ORCID: 0000-0002-6404-6839, Borresen-Dale, Anne-Lise, Alnaes, Grethe I. Grenaker, Sahlberg, Kristine K., Ottestad, Lars, Karesen, Rolf, Schlichting, Ellen, Holmen, Marit Muri, Sauer, Toril, Haakensen, Vilde, Engebraten, Olav, Naume, Bjorn, Fossa, Alexander, Kiserud, Cecile E., Reinertsen, Kristin, V, Helland, Aslaug, Riis, Margit and Geisler, Juergen (2019). Two truncating variants in FANCC and breast cancer risk. Sci Rep, 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Ellison, Gillian, Ahdesmaki, Miika ORCID: 0000-0002-9091-7773, Luke, Sally, Waring, Paul M., Wallace, Andrew, Wright, Ronnie, Rothlisberger, Benno, Ludin, Katja, Merkelbach-Bruse, Sabine, Heydt, Carina, Ligtenberg, Marjolijn J. L., Mensenkamp, Arjen R., de Castro, David Gonzalez, Jones, Thomas, Vivancos, Ana ORCID: 0000-0003-2888-6512, Kondrashova, Olga ORCID: 0000-0003-0022-5149, Pauwels, Patrick, Weyn, Christine, Hahnen, Eric, Hauke, Jan, Soong, Richie, Lai, Zhongwu, Dougherty, Brian, Carr, T. Hedley, Johnson, Justin, Mills, John and Barrett, J. Carl (2018). An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice. Hum. Mutat., 39 (3). S. 394 - 406. HOBOKEN: WILEY. ISSN 1098-1004

Engel, Christoph ORCID: 0000-0002-7247-282X, Rhiem, Kerstin, Hahnen, Eric, Loibl, Sibylle, Weber, Karsten E., Seiler, Sabine, Zachariae, Silke, Hauke, Jan, Wappenschmidt, Barbara, Waha, Anke, Bluemcke, Britta, Kiechle, Marion, Meindl, Alfons, Niederacher, Dieter, Bartram, Claus R., Speiser, Dorothee, Schlegelberger, Brigitte, Arnold, Norbert ORCID: 0000-0003-4523-8808, Wieacker, Peter, Leinert, Elena, Gehrig, Andrea, Briest, Susanne, Kast, Karin, Riess, Olaf, Emons, Guenter, Weber, Bernhard H. F., Engel, Jutta and Schmutzler, Rita K. (2018). Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history. BMC Cancer, 18. LONDON: BIOMED CENTRAL LTD. ISSN 1471-2407

Ernst, Corinna, Hahnen, Eric, Engel, Christoph ORCID: 0000-0002-7247-282X, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Weber, Jonas, Schmutzler, Rita K. and Hauke, Jan (2018). Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics. BMC Med. Genomics, 11. LONDON: BIOMED CENTRAL LTD. ISSN 1755-8794

Ferreira, Manuel A., Gamazon, Eric R., Al-Ejeh, Fares ORCID: 0000-0002-1553-0077, Aittomaki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arason, Adalgeir, Arndt, Volker ORCID: 0000-0001-9320-8684, Aronson, Kristan J., Arun, Banu K., Asseryanis, Ella, Azzollini, Jacopo, Balmana, Judith ORCID: 0000-0002-0762-6415, Barnes, Daniel R., Barrowdale, Daniel, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blomqvist, Carl ORCID: 0000-0003-3041-1938, Bogdanova, Natalia, V, Bojesen, Stig E., Bolla, Manjeet K., Borg, Ake, Brauch, Hiltrud ORCID: 0000-0001-7531-2736, Brenner, Hermann, Broeks, Annegien, Burwinkel, Barbara, Caldes, Trinidad, Caligo, Maria A., Campa, Daniele, Campbell, Ian, Canzian, Federico ORCID: 0000-0002-4261-4583, Carter, Jonathan ORCID: 0000-0003-3871-2815, Carter, Brian D., Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Christiansen, Hans, Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Couch, Fergus J., Cox, Angela ORCID: 0000-0002-5138-1099, Cross, Simon S., Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Dennis, Joe, Devilee, Peter, Diez, Orland, Doerk, Thilo, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Ejlertsen, Bent, Ellberg, Carolina ORCID: 0000-0001-7297-0645, Engel, Christoph ORCID: 0000-0002-7247-282X, Eriksson, Mikael, Fasching, Peter A., Fletcher, Olivia, Flyger, Henrik, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gago-Dominguez, Manuela, Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Gaudet, Mia M., Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal ORCID: 0000-0002-8359-518X, Haiman, Christopher A., Hall, Per, Hamann, Ute, He, Wei ORCID: 0000-0003-0161-3274, Heyworth, Jane ORCID: 0000-0003-1411-4554, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hoover, Robert N., Hopper, John L., Hulick, Peter J., Humphreys, Keith, Imyanitov, Evgeny N., Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna ORCID: 0000-0002-5650-0501, James, Paul A., Janavicius, Ramunas, Jankowitz, Rachel C., John, Esther M., Johnson, Nichola, Joseph, Vijai ORCID: 0000-0002-7933-151X, Karlan, Beth Y., Khusnutdinova, Elza, Kiiski, Johanna, I, Ko, Yon-Dschun, Jones, Michael E., Konstantopoulou, Irene ORCID: 0000-0002-0470-0309, Kristensen, Vessela N., Laitman, Yael, Lambrechts, Diether ORCID: 0000-0002-3429-302X, Lazaro, Conxi, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Lindstrom, Sara, Long, Jirong ORCID: 0000-0002-7433-9766, Loud, Jennifer T., Lubinski, Jan, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Maurer, Tabea, Mavroudis, Dimitrios, McGuffog, Lesley, Meindl, Alfons, Menon, Usha ORCID: 0000-0003-3708-1732, Michailidou, Kyriaki, Miller, Austin, Montagna, Marco, Moreno, Fernando ORCID: 0000-0001-8933-0687, Moserle, Lidia ORCID: 0000-0001-9066-6786, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nevelsteen, Ines, Nielsen, Finn C., Nikitina-Zake, Liene, Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olsson, Hakan ORCID: 0000-0002-8794-9635, Osorio, Ana ORCID: 0000-0001-8124-3984, Papp, Janos, Park-Simon, Tjoung-Won, Parsons, Michael T., Pedersen, Inge Sokilde, Peixoto, Ana ORCID: 0000-0002-1404-5897, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Pharoah, Paul D. P., Plaseska-Karanfilska, Dijana, Poppe, Bruce, Presneau, Nadege, Radice, Paolo ORCID: 0000-0001-6298-4111, Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Saloustros, Emmanouil ORCID: 0000-0002-0485-0120, Sanden, Kristin, Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Sharma, Priyanka, Shu, Xiao-Ou, Simard, Jacques, Singer, Christian F., Soucy, Penny, Southey, Melissa C., Spinelli, John J., Spurdle, Amanda B., Stone, Jennifer ORCID: 0000-0001-5077-0124, Swerdlow, Anthony J., Tapper, William J., Taylor, Jack A., Teixeira, Manuel R., Terry, Mary Beth, Teule, Alex, Thomassen, Mads, Thoene, Kathrin, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Torres, Diana, Truong, Therese, Tung, Nadine, Vachon, Celine M., van Asperen, Christi J., van den Ouweland, Ans M. W., van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra ORCID: 0000-0003-2804-0840, Wang, Qin, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wendt, Camilla, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Ziogas, Argyrios, Kraft, Peter ORCID: 0000-0002-4472-8103, Antoniou, Antonis C., Zheng, Wei, Easton, Douglas F., Milne, Roger L., Beesley, Jonathan, Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Arnold, Norbert ORCID: 0000-0003-4523-8808, Auber, Bernd, Bogdanova-Markov, Nadja, Borde, Julika, Caliebe, Almuth, Ditsch, Nina, Dworniczak, Bernd, Engert, Stefanie, Faust, Ulrike, Gehrig, Andrea, Hahnen, Eric, Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Just, Walter, Kast, Karin, Larsen, Mirjam, Lemke, Johannes, Niederacher, Dieter, Ott, Claus-Eric, Platzer, Konrad, Pohl-Rescigno, Esther, Ramser, Juliane, Rhiem, Kerstin, Steinemann, Doris, Sutter, Christian, Varon-Mateeva, Raymonda, Wang-Gohrke, Shan, Weber, Bernhard H. F., Prieur, Fabienne, Pujol, Pascal, Sagne, Charlotte, Sevenet, Nicolas, Sobol, Hagay, Sokolowska, Johanna, Stoppa-Lyonnet, Dominique, Venat-Bouvet, Laurence, Adlard, Julian, Ahmed, Munaza, Barwell, Julian, Brady, Angela, Brewer, Carole, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Eason, Jacqueline, Eeles, Ros, Evans, D. Gareth, Gregory, Helen, Hanson, Helen, Henderson, Alex, Hodgson, Shirley, Izatt, Louise, Kennedy, M. John, Lalloo, Fiona, Miller, Clare, Morrison, Patrick J., Ong, Kai-ren, Perkins, Jo, Porteous, Mary E., Rogers, Mark T., Side, Lucy E., Snape, Katie, Walker, Lisa, Harrington, Patricia A., Heemskerk-Gerritsen, Bernadette A. M., Rookus, Matti A., Seynaeve, Caroline M., van der Baan, Frederieke H., van der Hout, Annemieke H., van der Kolk, Lizet E., van der Luijt, Rob B., van Deurzen, Carolien H. M., van Doorn, Helena C., van Engelen, Klaartje, van Hest, Liselotte, van Os, Theo A. M., Verhoef, Senno, Vogel, Maartje J., Wijnen, Juul T., Miron, Alexander, Kapuscinski, Miroslav, Bane, Anita, Ross, Eric, Buys, Saundra S., Conner, Thomas A., Balleine, Rosemary, Baxter, Robert, Braye, Stephen, Carpenter, Jane, Dahlstrom, Jane ORCID: 0000-0001-5608-693X, Forbes, John, Lee, Soon C., Marsh, Deborah, Morey, Adrienne, Pathmanathan, Nirmala, Simpson, Peter, Spigelman, Allan, Wilcken, Nicholas and Yip, Desmond ORCID: 0000-0002-2806-2401 (2019). Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. Nat. Commun., 10. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Hackl, Agnes, Mehler, Katrin, Gottschalk, Ingo, Vierzig, Anne, Eydam, Marcus, Hauke, Jan, Beck, Bodo B., Liebau, Max C., Ensenauer, Regina, Weber, Lutz T. and Habbig, Sandra (2017). Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities. Pediatr. Nephrol., 32 (5). S. 791 - 801. NEW YORK: SPRINGER. ISSN 1432-198X

Hahnen, Eric, Baumann, Klaus H., Heimbach, Andre, Reuss, Alexander, Jackisch, Christian, Hauke, Jan, Park-Simon, Tjoung-Won, Richters, Lisa Katharina, Hanker, Lars Christian, Kroeber, Sandra, Pfisterer, Jacobus, Gevensleben, Heidrun, Schnelzer, Andreas, Dietrich, Dimo, Schneider, Stephanie, Kommoss, Stefan, Marme, Frederic, Prieske, Katharina, Schmutzler, Rita K. and Harter, Philipp (2016). Prevalence of somatic mutations in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1 study). J. Clin. Oncol., 34 (15). ALEXANDRIA: AMER SOC CLINICAL ONCOLOGY. ISSN 1527-7755

Hahnen, Eric, Hauke, Jan, Engel, Christoph ORCID: 0000-0002-7247-282X, Neidhardt, Guido, Rhiem, Kerstin and Schmutzler, Rita K. (2017). Germline Mutations in Triple-Negative Breast Cancer. Breast Care, 12 (1). S. 15 - 22. BASEL: KARGER. ISSN 1661-3805

Hahnen, Eric, Lederer, Bianca ORCID: 0000-0002-4512-2226, Hauke, Jan, Loibl, Sibylle, Kroeber, Sandra, Schneeweiss, Andreas, Denkert, Carsten, Fasching, Peter A., Blohmer, Jens U., Jackisch, Christian, Paepke, Stefan, Gerber, Bernd, Kuemmel, Sherko, Schem, Christian, Neidhardt, Guido, Huober, Jens, Rhiem, Kerstin, Costa, Serban, Altmueller, Janine, Hanusch, Claus, Thiele, Holger, Mueller, Volkmar, Nuernberg, Peter, Karn, Thomas ORCID: 0000-0002-3264-6573, Nekljudova, Valentina, Untch, Michael, von Minckwitz, Gunter and Schmutzler, Rita K. (2017). Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer Secondary Analysis of the GeparSixto Randomized Clinical Trial. JAMA Oncol., 3 (10). S. 1378 - 1386. CHICAGO: AMER MEDICAL ASSOC. ISSN 2374-2445

Harter, Philipp, Hauke, Jan, Heitz, Florian ORCID: 0000-0002-2412-0352, Reuss, Alexander, Kommoss, Stefan, Marme, Frederik, Heimbach, Andre, Prieske, Katharina, Richters, Lisa, Burges, Alexander, Neidhardt, Guido, de Gregorio, Nikolaus, El-Balat, Ahmed, Hilpert, Felix, Meier, Werner, Kimmig, Rainer, Kast, Karin, Sehouli, Jalid, Baumann, Klaus, Jackisch, Christian, Park-Simon, Tjoung-Won, Hanker, Lars, Kroeber, Sandra, Pfisterer, Jacobus, Gevensleben, Heidrun, Schnelzer, Andreas, Dietrich, Dimo, Neunhoeffer, Tanja, Krockenberger, Mathias, Brucker, Sara Y., Nuernberg, Peter, Thiele, Holger, Altmueller, Janine, Lamla, Josefin, Elser, Gabriele, du Bois, Andreas, Hahnen, Eric and Schmutzler, Rita (2017). Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1). PLoS One, 12 (10). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Harter, Philipp, Hauke, Jan, Heitz, Florian, Reuss, Alexander, Kommoss, Stefan, Marme, Frederik, Heimbach, Andre, Prieske, Katharina, Richters, Lisa Katharina, Burges, Alexander, Neidhardt, Guido, de Gregorio, Nikolaus, El-Balat, Ahmed, Hilpert, Felix, Meier, Werner, Heubner, Martin Leonhard, Kast, Karin, Braicu, Ioana, Hahnen, Eric and Schmutzler, Rita K. (2016). Incidence of gernnline mutations in risk genes including BRCA1/2 in consecutive ovarian cancer (OC) patients (AGO TR-1). J. Clin. Oncol., 34 (15). ALEXANDRIA: AMER SOC CLINICAL ONCOLOGY. ISSN 1527-7755

Hauke, Jan, Engel, Christoph ORCID: 0000-0002-7247-282X, Wappenschmidt, Barbara, Mueller, Clemens R. and Hahnen, Eric (2015). Classification of variants of unknown significance (VUS) in hereditary breast and ovarian cancer. Med. Genet., 27 (2). S. 211 - 217. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1863-5490

Hauke, Jan, Hahnen, Eric, Schneider, Stephanie, Reuss, Alexander, Richters, Lisa, Kommoss, Stefan, Heimbach, Andre, Marme, Frederik, Schmidt, Sandra, Prieske, Katharina, Gevensleben, Heidrun, Burges, Alexander, Borde, Julika, De Gregorio, Nikolaus, Nuernberg, Peter, El-Balat, Ahmed, Thiele, Holger, Hilpert, Felix, Altmueller, Janine, Meier, Werner, Dietrich, Dimo, Kimmig, Rainer, Schoemig-Markiefka, Birgid, Kast, Karin, Braicu, Elena, Baumann, Klaus, Jackisch, Christian, Park-Simon, Tjoung-Won, Ernst, Corinna, Hanker, Lars, Pfisterer, Jacobus, Schnelzer, Andreas, du Bois, Andreas, Schmutzler, Rita K. and Harter, Philipp (2019). Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883). J. Med. Genet., 56 (9). S. 574 - 581. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Hauke, Jan, Heimbach, Andre, Richters, Lisa Katharina, Kroeber, Sandra, Altmuller, Janine, Thiele, Holger, Nuernberg, Peter, Wappenschmidt, Barbara, Neidhardt, Guido, Rhiem, Kerstin, Schmutzler, Rita K. and Hahnen, Eric (2016). Next-generation sequencing in BRCA1/2-negative breast and ovarian cancer families. J. Clin. Oncol., 34 (15). ALEXANDRIA: AMER SOC CLINICAL ONCOLOGY. ISSN 1527-7755

Hauke, Jan, Horvath, Judit, Gross, Eva, Gehrig, Andrea, Honisch, Ellen, Hackmann, Karl, Schmidt, Gunnar, Arnold, Norbert ORCID: 0000-0003-4523-8808, Faust, Ulrike, Sutter, Christian, Hentschel, Julia, Wang-Gohrke, Shan, Smogavec, Mateja, Weber, Bernhard H. F., Weber-Lassalle, Nana, Weber-Lassalle, Konstantin, Borde, Julika, Ernst, Corinna, Altmueller, Janine, Volk, Alexander E., Thiele, Holger, Huebbel, Verena, Nuernberg, Peter, Keupp, Katharina, Versmold, Beatrix, Pohl, Esther, Kubisch, Christian ORCID: 0000-0003-4220-0978, Grill, Sabine, Paul, Victoria, Herold, Natalie, Lichey, Nadine, Rhiem, Kerstin, Ditsch, Nina, Ruckert, Christian ORCID: 0000-0001-9915-1287, Wappenschmidt, Barbara, Auber, Bernd, Rump, Andreas, Niederacher, Dieter, Haaf, Thomas, Ramser, Juliane, Dworniczak, Bernd, Engel, Christoph ORCID: 0000-0002-7247-282X, Meindl, Alfons, Schmutzler, Rita K. and Hahnen, Eric (2018). Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancer Med., 7 (4). S. 1349 - 1359. HOBOKEN: WILEY. ISSN 2045-7634

Hauke, Jan, Schild, Andrea, Neugebauer, Antje, Lappa, Alexandra, Fricke, Julia, Fauser, Sascha, Roesler, Stefanie, Pannes, Andrea, Zarrinnam, Dirk, Altmueller, Janine, Motameny, Susanne, Nuernberg, Gudrun, Nuernberg, Peter, Hahnen, Eric and Beck, Bodo B. (2013). A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype. PLoS One, 8 (10). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Herold, Natalie, Bredow, Kathrin, Hahnen, Eric, Wappenschmidt, Barbara, Hauke, Jan, Wiedemann, Regina, Waha, Anke, Bluemcke, Britta, Pohl-Rescigno, Esther, Rhiem, Kerstin and Schmutzler, Rita (2020). Evaluation of the Transsectoral Cooperation and Educational Program of the Cologne Department of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) for Certified Breast and Gynecological Cancer Centers. Oncol. Res. Treat., 43. S. 199 - 200. BASEL: KARGER. ISSN 2296-5262

Kast, Karin, Rhiem, Kerstin, Wappenschmidt, Barbara, Hahnen, Eric, Hauke, Jan, Bluemcke, Britta, Zarghooni, Verena, Herold, Natalie, Ditsch, Nina, Kiechle, Marion, Braun, Michael, Fischer, Christine, Dikow, Nicola, Schott, Sarah ORCID: 0000-0002-1714-1147, Rahner, Nils, Niederacher, Dieter, Fehm, Tanja, Gehrig, Andrea, Mueller-Reible, Clemens, Arnold, Norbert ORCID: 0000-0003-4523-8808, Maass, Nicolai, Borck, Guntram, de Gregorio, Nikolaus, Scholz, Caroline, Auber, Bernd, Varon-Manteeva, Raymonda, Speiser, Dorothee, Horvath, Judit, Lichey, Nadine, Wimberger, Pauline, Stark, Sylvia, Faust, Ulrike, Weber, Bernhard H. F., Emons, Gunter, Zachariae, Silke, Meindl, Alfons, Schmutzler, Rita K. and Engel, Christoph ORCID: 0000-0002-7247-282X (2016). Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer. J. Med. Genet., 53 (7). S. 465 - 472. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Kobow, Katja, Kaspi, Antony ORCID: 0000-0001-6576-5862, Harikrishnan, K. N., Kiese, Katharina, Ziemann, Mark ORCID: 0000-0002-7688-6974, Khurana, Ishant ORCID: 0000-0001-9050-2749, Fritzsche, Ina, Hauke, Jan, Hahnen, Eric, Coras, Roland, Muehlebner, Angelika, El-Osta, Assam ORCID: 0000-0001-7968-7375 and Bluemcke, Ingmar (2013). Deep sequencing reveals increased DNA methylation in chronic rat epilepsy. Acta Neuropathol., 126 (5). S. 741 - 757. NEW YORK: SPRINGER. ISSN 1432-0533

Lecarpentier, Julie, Silvestri, Valentina ORCID: 0000-0003-0712-9379, Kuchenbaecker, Karoline B., Barrowdale, Daniel ORCID: 0000-0003-1661-3939, Dennis, Joe, McGuffog, Lesley, Soucy, Penny, Leslie, Goska ORCID: 0000-0001-5756-6222, Rizzolo, Piera ORCID: 0000-0002-3421-1485, Navazio, Anna Sara, Valentini, Virginia, Zelli, Veronica, Lee, Andrew, Al Olama, Ali Amin, Tyrer, Jonathan P., Southey, Melissa ORCID: 0000-0002-6313-9005, John, Esther M., Conner, Thomas A., Goldgar, David E., Buys, Saundra S., Janavicius, Ramunas, Steele, Linda, Ding, Yuan Chun, Neuhausen, Susan L., Hansen, Thomas V. O., Osorio, Ana ORCID: 0000-0001-8124-3984, Weitzel, Jeffrey N., Toss, Angela, Medici, Veronica, Cortesi, Laura, Zanna, Ines ORCID: 0000-0002-5710-6506, Palli, Domenico, Radice, Paolo ORCID: 0000-0001-6298-4111, Manoukian, Siranoush, Peissel, Bernard, Azzollini, Jacopo ORCID: 0000-0002-9364-9778, Viel, Alessandra ORCID: 0000-0003-2804-0840, Cini, Giulia ORCID: 0000-0002-8696-8922, Damante, Giuseppe, Tommasi, Stefania, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Fostira, Florentia, Hamann, Ute, Evans, D. Gareth, Henderson, Alex, Brewer, Carole, Eccles, Diana ORCID: 0000-0002-9935-3169, Cook, Jackie, Ong, Kai-ren, Walker, Lisa, Side, Lucy E., Porteous, Mary E., Davidson, Rosemarie, Hodgson, Shirley, Frost, Debra, Adlard, Julian ORCID: 0000-0002-1693-0435, Izatt, Louise, Eeles, Ros, Ellis, Steve, Tischkowitz, Marc ORCID: 0000-0002-7880-0628, Godwin, Andrew K., Meindl, Alfons, Gehrig, Andrea, Dworniczak, Bernd, Sutter, Christian, Engel, Christoph ORCID: 0000-0002-7247-282X, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Hauke, Jan, Rhiem, Kerstin, Kast, Karin, Arnold, Norbert ORCID: 0000-0003-4523-8808, Ditsch, Nina, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Wand, Dorothea, Lasset, Christine, Stoppa-Lyonnet, Dominique, Belotti, Muriel, Damiola, Francesca ORCID: 0000-0002-0238-1252, Barjhoux, Laure, Mazoyer, Sylvie ORCID: 0000-0002-2135-0160, Van Heetvelde, Mattias, Poppe, Bruce, De Leeneer, Kim, Claes, Kathleen B. M., de la Hoya, Miguel ORCID: 0000-0002-8113-1410, Garcia-Barberan, Vanesa, Caldes, Trinidad, Perez Segura, Pedro, Kiiski, Johanna I. ORCID: 0000-0002-4089-7209, Aittomaeki, Kristiina, Khan, Sofia ORCID: 0000-0003-4185-8882, Nevanlinna, Heli, van Asperen, Christi J., Vaszko, Tibor, Kasler, Miklos, Olah, Edith, Balmana, Judith ORCID: 0000-0002-0762-6415, Gutierrez-Enriquez, Sara ORCID: 0000-0002-1711-6101, Diez, Orland, Teule, Alex ORCID: 0000-0003-0028-7200, Izquierdo, Angel, Darder, Esther, Brunet, Joan ORCID: 0000-0003-1945-3512, Del Valle, Jesus, Feliubadalo, Lidia ORCID: 0000-0002-1736-0112, Pujana, Miquel Angel, Lazaro, Conxi, Arason, Adalgeir, Agnarsson, Bjarni A., Johannsson, Oskar Th., Barkardottir, Rosa B., Alducci, Elisa, Tognazzo, Silvia ORCID: 0000-0002-6260-1261, Montagna, Marco, Teixeira, Manuel R., Pinto, Pedro ORCID: 0000-0001-6289-5792, Spurdle, Amanda B., Holland, Helene, Lee, Jong Won, Lee, Min Hyuk, Lee, Jihyoun, Kim, Sung-Won, Kang, Eunyoung, Kim, Zisun, Sharma, Priyanka ORCID: 0000-0001-8592-2239, Rebbeck, Timothy R., Vijai, Joseph, Robson, Mark, Lincoln, Anne, Musinsky, Jacob, Gaddam, Pragna, Tan, Yen Y., Berger, Andreas, Singer, Christian F., Loud, Jennifer T., Greene, Mark H., Mulligan, Anna Marie ORCID: 0000-0002-7239-5297, Glendon, Gord, Andrulis, Irene L., Toland, Amanda Ewart, Senter, Leigha ORCID: 0000-0001-9270-8847, Bojesen, Anders ORCID: 0000-0003-4289-8595, Nielsen, Henriette Roed, Skytte, Anne-Bine ORCID: 0000-0002-0067-9557, Sunde, Lone ORCID: 0000-0002-8479-165X, Jensen, Uffe Birk ORCID: 0000-0002-6205-6355, Pedersen, Inge Sokilde ORCID: 0000-0002-9902-8040, Krogh, Lotte, Kruse, Torben A., Caligo, Maria A., Yoon, Sook-Yee, Teo, Soo-Hwang, von Wachenfeldt, Anna, Huo, Dezheng, Nielsen, Sarah M., Olopade, Olufunmilayo I., Nathanson, Katherine L., Domchek, Susan M., Lorenchick, Christa, Jankowitz, Rachel C., Campbell, Ian ORCID: 0000-0002-7773-4155, James, Paul ORCID: 0000-0002-4361-4657, Mitchell, Gillian, Orr, Nick, Park, Sue Kyung, Thomassen, Mads, Offit, Kenneth, Couch, Fergus J., Simard, Jacques, Easton, Douglas F., Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Schmutzler, Rita K., Antoniou, Antonis C. and Ottini, Laura (2017). Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores. J. Clin. Oncol., 35 (20). S. 2240 - 2257. ALEXANDRIA: AMER SOC CLINICAL ONCOLOGY. ISSN 1527-7755

Meindl, Alfons, Ramser, Juliane, Hauke, Jan and Hahnen, Eric (2015). Genetic aspects of hereditary breast and ovarian cancer: options and limits. Med. Genet., 27 (2). S. 202 - 210. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1863-5490

Neidhardt, Guido, Becker, Alexandra, Hauke, Jan, Horvath, Judit, Markov, Nadja Bogdanova, Heilmann-Heimbach, Stefanie ORCID: 0000-0003-1057-465X, Hellebrand, Heide, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Meindl, Alfons, Rhiem, Kerstin, Bluemcke, Britta, Wappenschmidt, Barbara, Schmutzler, Rita K. and Hahnen, Eric (2017). The RAD51C exonic splice-site mutations c.404G > C and c.404G > T are associated with familial breast and ovarian cancer. Eur. J. Cancer Prev., 26 (2). S. 165 - 170. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1473-5709

Neidhardt, Guido, Hauke, Jan, Ramser, Juliane, Gross, Eva, Gehrig, Andrea, Mueller, Clemens R., Kahlert, Anne-Karin, Hackmann, Karl, Honisch, Ellen, Niederacher, Dieter, Heilmann-Heimbach, Stefanie ORCID: 0000-0003-1057-465X, Franke, Andre ORCID: 0000-0003-1530-5811, Lieb, Wolfgang, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Klaschik, Kristina, Ernst, Corinna, Ditsch, Nina, Jessen, Frank, Ramirez, Alfredo ORCID: 0000-0003-4991-763X, Wappenschmidt, Barbara, Engel, Christoph ORCID: 0000-0002-7247-282X, Rhiem, Kerstin, Meindl, Alfons, Schmutzler, Rita K. and Hahnen, Eric (2017). Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer. JAMA Oncol., 3 (9). S. 1245 - 1249. CHICAGO: AMER MEDICAL ASSOC. ISSN 2374-2445

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

Patel, Vivek L., Busch, Evan L., Friebel, Tara M., Cronin, Angel, Leslie, Goska ORCID: 0000-0001-5756-6222, McGuffog, Lesley, Adlard, Julian ORCID: 0000-0002-1693-0435, Agata, Simona, Agnarsson, Bjarni A., Ahmed, Munaza, Aittomaki, Kristiina, Alducci, Elisa, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert ORCID: 0000-0003-4523-8808, Artioli, Grazia, Arver, Brita, Auber, Bernd, Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barnes, Daniel R., Barroso, Alicia, Barrowdale, Daniel ORCID: 0000-0003-1661-3939, Belotti, Muriel, Benitez, Javier, Bertelsen, Brigitte, Blok, Marinus J., Bodrogi, Istvan, Bonadona, Valerie, Bonanni, Bernardo, Bondavalli, Davide, Boonen, Susanne E., Borde, Julika, Borg, Ake, Bradbury, Angela R., Brady, Angela, Brewer, Carole, Brunet, Joan ORCID: 0000-0003-1945-3512, Buecher, Bruno, Buys, Saundra S., Cabezas-Camarero, Santiago, Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A., Calvello, Mariarosaria, Campbell, Ian G., Carnevali, Ileana, Carrasco, Estela, Chan, Tsun L., Chu, Annie T. W., Chung, Wendy K., Claes, Kathleen B. M., Cook, Jackie, Cortesi, Laura ORCID: 0000-0001-8950-8561, Couch, Fergus J., Daly, Mary B., Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, Della Puppa, Lara, Dennis, Joe, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M., Donaldson, Alan, Dworniczak, Bernd, Easton, Douglas F., Eccles, Diana M., Eeles, Rosalind A., Ehrencrona, Hans ORCID: 0000-0002-5589-3622, Ejlertsen, Bent, Engel, Christoph ORCID: 0000-0002-7247-282X, Evans, D. Gareth, Faivre, Laurence, Faust, Ulrike, Feliubadalo, Lidia ORCID: 0000-0002-1736-0112, Foretova, Lenka, Fostira, Florentia, Fountzilas, George, Frost, Debra, Garcia-Barberan, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Geczi, Lajos, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe ORCID: 0000-0003-0299-4056, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Gutierrez-Barrera, Angelica M., Hahnen, Eric, Hamann, Ute, Hauke, Jan, Herold, Natalie, Hogervorst, Frans B. L., Honisch, Ellen, Hopper, John L., Hulick, Peter J., Izatt, Louise, Jager, Agnes, James, Paul ORCID: 0000-0002-4361-4657, Janavicius, Ramunas, Jensen, Uffe Birk ORCID: 0000-0002-6205-6355, Jensen, Thomas Dyrso, Johannsson, Oskar Th, John, Esther M., Joseph, Vijai, Kang, Eunyoung, Kast, Karin, Kiiski, Johanna, I, Kim, Sung-Won, Kim, Zisun, Ko, Kwang-Pil, Konstantopoulou, Irene ORCID: 0000-0002-0470-0309, Kramer, Gero, Krogh, Lotte, Kruse, Torben A., Kwong, Ava, Larsen, Mirjam, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Lee, Jihyoun, Lee, Jong Won, Lee, Min Hyuk, Lemke, Johannes, Lesueur, Fabienne, Liljegren, Annelie, Lindblom, Annika, Llovet, Patricia ORCID: 0000-0003-0190-2105, Lopez-Fernandez, Adria, Lopez-Perolio, Irene, Lorca, Victor, Loud, Jennifer T., Ma, Edmond S. K., Mai, Phuong L., Manoukian, Siranoush, Mari, Veronique, Martin, Lynn, Matricardi, Laura ORCID: 0000-0002-0241-1810, Mebirouk, Noura, Medici, Veronica, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Mensenkamp, Arjen R., Miller, Clare, Gomes, Denise Molina, Montagna, Marco, Mooij, Thea M., Moserle, Lidia, Mouret-Fourme, Emmanuelle, Mulligan, Anna Marie, Nathanson, Katherine L., Navratilova, Marie, Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn C. Cilius, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Ong, Kai-Ren, Osorio, Ana ORCID: 0000-0001-8124-3984, Ott, Claus-Eric, Palli, Domenico, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde ORCID: 0000-0002-9902-8040, Peissel, Bernard, Peixoto, Ana ORCID: 0000-0002-1404-5897, Perez-Segura, Pedro, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Petersen, Annabeth Hogh, Porteous, Mary E., Angel Pujana, Miguel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rashid, Muhammad U., Rhiem, Kerstin, Rizzolo, Piera ORCID: 0000-0002-3421-1485, Robson, Mark E., Rookus, Matti A., Rossing, Caroline M., Ruddy, Kathryn J., Santos, Catarina ORCID: 0000-0002-9102-757X, Saule, Claire, Scarpitta, Rosa, Schmutzler, Rita K., Schuster, Helene, Senter, Leigha, Seynaeve, Caroline M., Shah, Payal D., Sharma, Priyanka, Shin, Vivian Y., Silvestri, Valentina, Simard, Jacques, Singer, Christian F., Skytte, Anne-Bine ORCID: 0000-0002-0067-9557, Snape, Katie, Solano, Angela R., Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Steele, Linda, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Stradella, Agostina, Sunde, Lone ORCID: 0000-0002-8479-165X, Sutter, Christian, Tan, Yen Y., Teixeira, Manuel R., Teo, Soo Hwang, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Tommasi, Stefania, Torres, Diana, Toss, Angela, Trainer, Alison H., Tung, Nadine, van Asperen, Christi J., van der Baan, Frederieke H., van der Kolk, Lizet E., van der Luijt, Rob B., van Hest, Liselotte P., Varesco, Liliana, Varon-Mateeva, Raymonda, Viel, Alessandra, Vierstrate, Jeroen, Villa, Roberta, von Wachenfeldt, Anna, Wagner, Philipp, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wieme, Greet, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Zorn, Kristin K., D'Amico, Anthony, V, Freedman, Matthew L., Pomerantz, Mark M., Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Antoniou, Antonis C., Neuhausen, Susan L., Ottini, Laura, Nielsen, Henriette Roed and Rebbeck, Timothy R. 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Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Catucci, Irene, Colombo, Mara ORCID: 0000-0001-5465-354X, Caleca, Laura ORCID: 0000-0002-3381-7493, Mucaki, Eliseos, Bogliolo, Massimo ORCID: 0000-0001-8240-7784, Marin, Maria, Damiola, Francesca ORCID: 0000-0002-0238-1252, Bernard, Loris, Pensotti, Valeria, Volorio, Sara, Dall'Olio, Valentina, Meindl, Alfons, Bartram, Claus, Sutter, Christian, Surowy, Harald ORCID: 0000-0002-3595-9188, Sornin, Valerie, Dondon, Marie-Gabrielle ORCID: 0000-0001-6016-8524, Eon-Marchais, Severine, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Sinilnikova, Olga M., Mitchell, Gillian, James, Paul A., Thompson, Ella, Marchetti, Marina ORCID: 0000-0001-9036-960X, Verzeroli, Cristina, Tartari, Carmen, Capone, Gabriele Lorenzo, Putignano, Anna Laura, Genuardi, Maurizio ORCID: 0000-0002-7410-8351, Medici, Veronica, Marchi, Isabella, Federico, Massimo ORCID: 0000-0002-5074-3262, Tognazzo, Silvia ORCID: 0000-0002-6260-1261, Matricardi, Laura ORCID: 0000-0002-0241-1810, Agata, Simona, Dolcetti, Riccardo ORCID: 0000-0003-1625-9853, Della Puppa, Lara, Cini, Giulia ORCID: 0000-0002-8696-8922, Gismondi, Viviana, Viassolo, Valeria, Perfumo, Chiara, Mencarelli, Maria Antonietta, Baldassarri, Margherita, Peissel, Bernard ORCID: 0000-0001-9233-3571, Roversi, Gaia, Silvestri, Valentina ORCID: 0000-0003-0712-9379, Rizzolo, Piera ORCID: 0000-0002-3421-1485, Spina, Francesca, Vivanet, Caterina, Tibiletti, Maria Grazia, Caligo, Maria Adelaide, Gambino, Gaetana ORCID: 0000-0002-0671-0244, Tommasi, Stefania ORCID: 0000-0002-2157-2978, Pilato, Brunella, Tondini, Carlo, Corna, Chiara, Bonanni, Bernardo, Barile, Monica, Osorio, Ana ORCID: 0000-0001-8124-3984, Benitez, Javier, Balestrino, Luisa, Ottini, Laura, Manoukian, Siranoush, Pierotti, Marco A., Renieri, Alessandra ORCID: 0000-0002-0846-9220, Varesco, Liliana ORCID: 0000-0003-4871-6668, Couch, Fergus J., Wang, Xianshu, Devilee, Peter ORCID: 0000-0002-8023-2009, Hilbers, Florentine S., van Asperen, Christi J., Viel, Alessandra ORCID: 0000-0003-2804-0840, Montagna, Marco, Cortesi, Laura ORCID: 0000-0001-8950-8561, Diez, Orland, Balmana, Judith ORCID: 0000-0002-0762-6415, Hauke, Jan, Schmutzler, Rita K., Papi, Laura ORCID: 0000-0003-4552-9517, Angel Pujana, Miguel, Lazaro, Conxi, Falanga, Anna ORCID: 0000-0002-5007-3457, Offit, Kenneth, Vijai, Joseph, Campbell, Ian ORCID: 0000-0002-7773-4155, Burwinkel, Barbara, Kvist, Anders ORCID: 0000-0002-1358-0695, Ehrencrona, Hans ORCID: 0000-0002-5589-3622, Mazoyer, Sylvie ORCID: 0000-0002-2135-0160, Pizzamiglio, Sara ORCID: 0000-0002-7759-0550, Verderio, Paolo ORCID: 0000-0002-9231-1281, Surralles, Jordi ORCID: 0000-0002-4041-7519, Rogan, Peter K. and Radice, Paolo ORCID: 0000-0001-6298-4111 (2015). FANCM c.5791C > T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor. Hum. Mol. Genet., 24 (18). S. 5345 - 5356. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Phelan, Catherine M., Kuchenbaecker, Karoline B., Tyrer, Jonathan P., Kar, Siddhartha P. ORCID: 0000-0002-2314-1426, Lawrenson, Kate, Winham, Stacey J., Dennis, Joe, Pirie, Ailith, Riggan, Marjorie J., Chornokur, Ganna, Earp, Madalene A., Lyra, Paulo C., Jr., Lee, Janet M., Coetzee, Simon ORCID: 0000-0003-4267-5930, Beesley, Jonathan ORCID: 0000-0003-1942-325X, McGuffog, Lesley, Soucy, Penny, Dicks, Ed, Lee, Andrew, Barrowdale, Daniel ORCID: 0000-0003-1661-3939, Lecarpentier, Julie, Leslie, Goska ORCID: 0000-0001-5756-6222, Aalfs, Cora M., Aben, Katja K. 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M., Conner, Thomas, Cook, Linda S., Cook, Jackie, Cramer, Daniel W., Cunningham, Julie M., D'Aloisio, Aimee A., Daly, Mary B., Damiola, Francesca ORCID: 0000-0002-0238-1252, Damirovna, Sakaeva Dina, Dansonka-Mieszkowska, Agnieszka ORCID: 0000-0002-2482-6523, Dao, Fanny, Davidson, Rosemarie, DeFazio, Anna ORCID: 0000-0003-0057-4744, Delnatte, Capucine, Doheny, Kimberly F., Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer Anne, Domchek, Susan M., Dorfling, Cecilia M., Dork, Thilo ORCID: 0000-0002-9458-0282, Dossus, Laure, Duran, Mercedes, Durst, Matthias, Dworniczak, Bernd, Eccles, Diana ORCID: 0000-0002-9935-3169, Edwards, Todd, Eeles, Ros, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B., Ellis, Steve, Elvira, Mingajeva, Eng, Kevin H., Engel, Christoph ORCID: 0000-0002-7247-282X, Evans, D. 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Pohl-Rescigno, Esther, Hauke, Jan, Loibl, Sibylle, Moebus, Volker, Denkert, Carsten, Fasching, Peter A., Kayali, Mohamad, Ernst, Corinna ORCID: 0000-0001-7756-8815, Weber-Lassalle, Nana, Hanusch, Claus, Tesch, Hans, Mueller, Volkmar, Altmueller, Janine, Thiele, Holger ORCID: 0000-0002-0169-998X, Untch, Michael, Luebbe, Kristina, Nuernberg, Peter, Rhiem, Kerstin, Furlanetto, Jenny, Lederer, Bianca, Jackisch, Christian, Nekljudova, Valentina, Schmutzler, Rita K., Schneeweiss, Andreas and Hahnen, Eric (2020). Association of Germline Variant Status With Therapy Response in High-risk Early-Stage Breast Cancer A Secondary Analysis of the GeparOcto Randomized Clinical Trial. JAMA Oncol., 6 (5). S. 744 - 749. CHICAGO: AMER MEDICAL ASSOC. ISSN 2374-2445

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Qian, Frank, Rookus, Matti A., Leslie, Goska, Risch, Harvey A., Greene, Mark H., Aalfs, Cora M., Adank, Muriel A., Adlard, Julian, Agnarsson, Bjarni A., Ahmed, Munaza, Aittomaki, Kristiina, Andrulis, Irene L., Arnold, Norbert ORCID: 0000-0003-4523-8808, Arun, Banu K., Ausems, Margreet G. E. M., Azzollini, Jacopo, Barrowdale, Daniel, Barwell, Julian, Benitez, Javier, Bialkowska, Katarzyna, Bonadona, Valerie, Borde, Julika, Borg, Ake, Bradbury, Angela R., Brunet, Joan ORCID: 0000-0003-1945-3512, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Carter, Jonathan, Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M., Collee, J. Margriet, Collonge-Rame, Marie-Agnes, Couch, Fergus J., Daly, Mary B., Delnatte, Capucine, Diez, Orland, Domchek, Susan M., Dorfling, Cecilia M., Eason, Jacqueline, Easton, Douglas F., Eeles, Ros, Engel, Christoph ORCID: 0000-0002-7247-282X, Evans, D. Gareth, Faivre, Laurence, Feliubado, Lidia, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Garcia-Barberan, Vanesa, Gehrig, Andrea, Glendon, Gord, Godwin, Andrew K., Garcia, Encarna B. Gomez, Hamann, Ute, Hauke, Jan, Hopper, John L., Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna ORCID: 0000-0002-5650-0501, Janavicius, Ramunas, John, Esther M., Karlan, Beth Y., Kets, Carolien M., Laitman, Yael, Lazaro, Conxi, Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne, Loud, Jennifer T., Lubinski, Jan, Lukomska, Alicja, McGuffog, Lesley, Mebirouk, Noura, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Miller, Austin, Montagna, Marco, Mooij, Thea M., Mouret-Fourme, Emmanuelle, Nathanson, Katherine L., Nehoray, Bita, Neuhausen, Susan L., Nevanlinna, Heli, Nielsen, Finn C., Offit, Kenneth, Olah, Edith, Ong, Kai-ren, Oosterwijk, Jan C., Ottini, Laura, Parsons, Michael T., Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Pfeiler, Georg, Pradhan, Nisha, Radice, Paolo ORCID: 0000-0001-6298-4111, Ramus, Susan J., Rantala, Johanna, Rennert, Gad, Robson, Mark, Rodriguez, Gustavo C., Salani, Ritu, Scheuner, Maren T., Schmutzler, Rita K., Shah, Payal D., Side, Lucy E., Simard, Jacques, Singer, Christian F., Steinemann, Doris, Stoppa-Lyonnet, Dominique, Tan, Yen Yen, Teixeira, Manuel R., Terry, Mary Beth, Thomassen, Mads, Tischkowitz, Marc, Tognazzo, Silvia ORCID: 0000-0002-6260-1261, Toland, Amanda E., Tung, Nadine, van Asperen, Christi J., van Engelen, Klaartje, van Rensburg, Elizabeth J., Venat-Bouvet, Laurence, Vierstraete, Jeroen, Wagner, Gabriel, Walker, Lisa, Weitze, Jeffrey N., Yannoukakos, Drakoulis, Antoniou, Antonis C., Goldgar, David E., Olopade, Olufunmilayo, I, Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Rebbeck, Timothy R. and Huo, Dezheng (2019). Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers. Br. J. Cancer, 121 (2). S. 180 - 193. LONDON: NATURE PUBLISHING GROUP. ISSN 1532-1827

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

Richters, Lisa Katharina, Schouten, Philip C., Kommoss, Stefan, Hauke, Jan, Burges, Alexander, Dietrich, Dimo, Ei-Balat, Ahmed, Hilpert, Felix, Kluin, Roel, Heubner, Martin Leonhard, Kast, Karin, Heimbach, Andre, Braicu, Elena Ioana, Schmidt, Sandra, Baumann, Klaus H., Jackisch, Christian, Linn, Sabine C., Schmutzler, Rita K., Harter, Philipp and Hahnen, Eric (2017). BRCA-like classification in ovarian cancer: Results from the AGO-TRi-trial. J. Clin. Oncol., 35. ALEXANDRIA: AMER SOC CLINICAL ONCOLOGY. ISSN 1527-7755

Von Minckwitz, Gunter, Hahnen, Eric, Fasching, Peter A., Hauke, Jan, Schneeweiss, Andreas, Salat, Christoph, Rezai, Mandi, Blohmer, Jens U., Zahm, Dirk Michael, Jackisch, Christian, Gerber, Bernd, Klare, Peter, Kummel, Sherko, Eidtmann, Holger, Paepke, Stefan, Nekljudova, Valentina, Le Loibl, Sibyl, Untch, Michael and Schmutzler, Rita K. (2014). Pathological complete response (pCR) rates after carboplatin-containing neoadjuvant chemotherapy in patients with germline BRCA (gBRCA) mutation and triple-negative breast cancer (TNBC): Results from GeparSixto. J. Clin. Oncol., 32 (15). ALEXANDRIA: AMER SOC CLINICAL ONCOLOGY. ISSN 1527-7755

Waha, Anke, Versmold, Beatrix, Kast, Karin, Kiechle, Marion, Ditsch, Nina, Meindl, Alfons, Niederacher, Dieter, Hahnen, Eric, Arnold, Norbert ORCID: 0000-0003-4523-8808, Mundhenke, Christoph, Horvath, Judit, Auber, Bernd, Dikow, Nicola, Hauke, Jan, Wappenschmidt, Barbara, Riess, Olaf, Schott, Sarah ORCID: 0000-0002-1714-1147, Speiser, Dorothee, Faust, Ulrike, Sutter, Christian, Rhiem, Kerstin and Schmutzler, Rita Katharina (2017). Consensus Recommendation of the German Consortium Family Breast and Ovarian Cancer for dealing with Results of the Multigenic Analysis. Geburtshilfe Frauenheilkd., 77 (7). S. 733 - 740. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1438-8804

Wappenschmidt, Barbara, Becker, Alexandra A., Hauke, Jan, Weber, Ute, Engert, Stefanie, Koehler, Juliane, Kast, Karin, Arnold, Norbert ORCID: 0000-0003-4523-8808, Rhiem, Kerstin, Hahnen, Eric, Meindl, Alfons and Schmutzler, Rita K. (2012). Analysis of 30 Putative BRCA1 Splicing Mutations in Hereditary Breast and Ovarian Cancer Families Identifies Exonic Splice Site Mutations That Escape In Silico Prediction. PLoS One, 7 (12). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Wappenschmidt, Barbara, Hauke, Jan, Faust, Ulrike, Niederacher, Dieter, Wiesmueler, Lisa, Schmidt, Gunnar, Gross, Evi, Gehrig, Andrea, Sutter, Christian, Ramser, Juliane, Rump, Andreas, Arnold, Norbert and Meindl, Alfons (2020). Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer. Geburtshilfe Frauenheilkd., 80 (4). S. 410 - 430. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1438-8804

Weber-Lassalle, Konstantin, Harter, Philipp, Hauke, Jan, Ernst, Corinna, Kommoss, Stefan, Marme, Frederik, Weber-Lassalle, Nana, Prieske, Katharina, Dietrich, Dimo, Borde, Julika, Pohl-Rescigno, Esther, Reuss, Alexander, Ataseven, Beyhan, Engel, Christoph ORCID: 0000-0002-7247-282X, Stingl, Julia C. ORCID: 0000-0002-1566-8156, Schmutzler, Rita K. and Hahnen, Eric (2018). Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis Results of the observational AGO-TR1 trial. Hum. Mutat., 39 (12). S. 2040 - 2047. HOBOKEN: WILEY. ISSN 1098-1004

Weber-Lassalle, Nana, Borde, Julika, Weber-Lassalle, Konstantin, Horvath, Judit, Niederacher, Dieter, Arnold, Norbert ORCID: 0000-0003-4523-8808, Kaulfuss, Silke, Ernst, Corinna, Paul, Victoria G., Honisch, Ellen, Klaschik, Kristina, Volk, Alexander E., Kubisch, Christian, Rapp, Steffen, Lichey, Nadine, Altmueller, Janine, Lepkes, Louisa, Pohl-Rescigno, Esther, Thiele, Holger, Nuernberg, Peter, Larsen, Mirjam, Richters, Lisa, Rhiem, Kerstin, Wappenschmidt, Barbara, Engel, Christoph ORCID: 0000-0002-7247-282X, Meindl, Alfons, Schmutzler, Rita K., Hahnen, Eric and Hauke, Jan (2019). Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer. Breast Cancer Res., 21. LONDON: BMC. ISSN 1465-542X

Weber-Lassalle, Nana, Hauke, Jan, Ramser, Juliane, Richters, Lisa, Gross, Eva, Bluemcke, Britta, Gehrig, Andrea, Kahlert, Anne-Karin, Mueller, Clemens R., Hackmann, Karl, Honisch, Ellen, Weber-Lassalle, Konstantin, Niederacher, Dieter, Borde, Julika, Thiele, Holger, Ernst, Corinna, Altmueller, Janine, Neidhardt, Guido, Nuernberg, Peter, Klaschik, Kristina, Schroeder, Christopher, Platzer, Konrad ORCID: 0000-0001-6127-6308, Volk, Alexander E., Wang-Gohrke, Shan, Just, Walter, Auber, Bernd, Kubisch, Christian ORCID: 0000-0003-4220-0978, Schmidt, Gunnar, Horvath, Judit, Wappenschmidt, Barbara, Engel, Christoph ORCID: 0000-0002-7247-282X, Arnold, Norbert ORCID: 0000-0003-4523-8808, Dworniczak, Bernd, Rhiem, Kerstin, Meindl, Alfons, Schmutzler, Rita K. and Hahnen, Eric (2018). BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer. Breast Cancer Res., 20. LONDON: BMC. ISSN 1465-5411

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