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Journal Article

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

Kuchenbaecker, Karoline B., Neuhausen, Susan L., Robson, Mark, Barrowdale, Daniel ORCID: 0000-0003-1661-3939, McGuffog, Lesley, Mulligan, Anna Marie ORCID: 0000-0002-7239-5297, Andrulis, Irene L., Spurdle, Amanda B., Schmidt, Marjanka K., Schmutzler, Rita K., Engel, Christoph ORCID: 0000-0002-7247-282X, Wappenschmidt, Barbara, Nevanlinna, Heli, Thomassen, Mads, Southey, Melissa ORCID: 0000-0002-6313-9005, Radice, Paolo ORCID: 0000-0001-6298-4111, Ramus, Susan J., Domchek, Susan M., Nathanson, Katherine L., Lee, Andrew, Healey, Sue, Nussbaum, Robert L., Rebbeck, Timothy R., Arun, Banu K., James, Paul ORCID: 0000-0002-4361-4657, Karlan, Beth Y., Lester, Jenny, Cass, Ilana, Terry, Mary Beth, Daly, Mary B., Goldgar, David E., Buys, Saundra S., Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M., van Rensburg, Elizabeth J., Steele, Linda, Hansen, Thomas V. O., Ejlertsen, Bent, Gerdes, Anne-Marie ORCID: 0000-0002-0328-3320, Nielsen, Finn C., Dennis, Joe, Cunningham, Julie, Hart, Steven ORCID: 0000-0001-7714-2734, Slager, Susan, Osorio, Ana, Benitez, Javier, Duran, Mercedes, Weitzel, Jeffrey N., Tafur, Isaac, Hander, Mary, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Manoukian, Siranoush, Peissel, Bernard ORCID: 0000-0001-9233-3571, Roversi, Gaia, Scuvera, Giulietta, Bonanni, Bernardo, Mariani, Paolo, Volorio, Sara, Dolcetti, Riccardo ORCID: 0000-0003-1625-9853, Varesco, Liliana ORCID: 0000-0003-4871-6668, Papi, Laura ORCID: 0000-0003-4552-9517, Tibiletti, Maria Grazia, Giannini, Giuseppe ORCID: 0000-0003-0299-4056, Fostira, Florentia, Konstantopoulou, Irene ORCID: 0000-0002-0470-0309, Garber, Judy, Hamann, Ute, Donaldson, Alan, Brewer, Carole, Foo, Claire, Evans, D. Gareth, Frost, Debra, Eccles, Diana ORCID: 0000-0002-9935-3169, Douglas, Fiona, Brady, Angela, Cook, Jackie, Tischkowitz, Marc ORCID: 0000-0002-7880-0628, Adlard, Julian ORCID: 0000-0002-1693-0435, Barwell, Julian, Ong, Kai-ren, Walker, Lisa, Izatt, Louise, Side, Lucy E., Kennedy, M. John, Rogers, Mark T., Porteous, Mary E., Morrison, Patrick J., Platte, Radka, Eeles, Ros, Davidson, Rosemarie, Hodgson, Shirley, Ellis, Steve, Godwin, Andrew K., Rhiem, Kerstin, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert ORCID: 0000-0003-4523-8808, Plendl, Hansjoerg, Niederacher, Dieter, Sutter, Christian, Steinemann, Doris, Bogdanova-Markov, Nadja, Kast, Karin, Varon-Mateeva, Raymonda, Wang-Gohrke, Shan, Gehrig, Andrea, Markiefka, Birgid, Buecher, Bruno, Lefol, Cedrick, Stoppa-Lyonnet, Dominique, Rouleau, Etienne, Prieur, Fabienne, Damiola, Francesca ORCID: 0000-0002-0238-1252, Barjhoux, Laure, Faivre, Laurence, Longy, Michel, Sevenet, Nicolas, Sinilnikova, Olga M., Mazoyer, Sylvie ORCID: 0000-0002-2135-0160, Bonadona, Valerie, Caux-Moncoutier, Virginie, Isaacs, Claudine, Van Maerken, Tom, Claes, Kathleen ORCID: 0000-0003-0841-7372, Piedmonte, Marion, Andrews, Lesley, Hays, John, Rodriguez, Gustavo C., Caldes, Trinidad, de la Hoya, Miguel ORCID: 0000-0002-8113-1410, Khan, Sofia ORCID: 0000-0003-4185-8882, Hogervorst, Frans B. L., Aalfs, Cora M., de lange, J. L., Meijers-Heijboer, Hanne E. J., van der Hout, Annemarie H., Wijnen, Juul T., van Roozendaal, K. E. P., Mensenkamp, Arjen R., van den Ouweland, Ans M. W., van Deurzen, Carolien H. M., van der Luijt, Rob B., Olah, Edith, Diez, Orland, Lazaro, Conxi, Blanco, Ignacio ORCID: 0000-0002-7414-7481, Teule, Alex, Menendez, Mireia, Jakubowska, Anna ORCID: 0000-0002-5650-0501, Lubinski, Jan ORCID: 0000-0003-2931-3003, Cybulski, Cezary, Gronwald, Jacek ORCID: 0000-0002-3643-2871, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Arason, Adalgeir, Maugard, Christine, Soucy, Penny, Montagna, Marco, Agata, Simona, Teixeira, Manuel R., Olswold, Curtis, Lindor, Noralane, Pankratz, Vernon S., Hallberg, Emily, Wang, Xianshu, Szabo, Csilla I., Vijai, Joseph, Jacobs, Lauren, Corines, Marina, Lincoln, Anne, Berger, Andreas, Fink-Retter, Anneliese, Singer, Christian F., Rappaport, Christine, Kaulich, Daphne Gschwantler, Pfeiler, Georg, Tea, Muy-Kheng, Phelan, Catherine M., Mai, Phuong L., Greene, Mark H., Rennert, Gad, Imyanitov, Evgeny N., Glendon, Gord, Toland, Amanda Ewart, Bojesen, Anders ORCID: 0000-0003-4289-8595, Pedersen, Inge Sokilde ORCID: 0000-0002-9902-8040, Jensen, Uffe Birk ORCID: 0000-0002-6205-6355, Caligo, Maria A., Friedman, Eitan, Berger, Raanan, Laitman, Yael, Rantala, Johanna, Arver, Brita, Loman, Niklas, Borg, Ake, Ehrencrona, Hans ORCID: 0000-0002-5589-3622, Olopade, Olufunmilayo I., Simard, Jacques, Easton, Douglas F., Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Offit, Kenneth, Couch, Fergus J. and Antoniou, Antonis C. (2014). Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res., 16. LONDON: BIOMED CENTRAL LTD. ISSN 1465-5411

Osorio, Ana ORCID: 0000-0001-8124-3984, Milne, Roger L., Kuchenbaecker, Karoline, Vaclova, Tereza, Pita, Guillermo ORCID: 0000-0003-2393-0510, Alonso, Rosario, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Blanco, Ignacio ORCID: 0000-0002-7414-7481, de la Hoya, Miguel ORCID: 0000-0002-8113-1410, Duran, Mercedes, Diez, Orland, Ramon y Cajal, Teresa, Konstantopoulou, Irene ORCID: 0000-0002-0470-0309, Martinez-Bouzas, Cristina, Conejero, Raquel Andres, Soucy, Penny, McGuffog, Lesley, Barrowdale, Daniel ORCID: 0000-0003-1661-3939, Lee, Andrew, Arver, Brita, Rantala, Johanna, Loman, Niklas, Ehrencrona, Hans ORCID: 0000-0002-5589-3622, Olopade, Olufunmilayo I., Beattie, Mary S., Domchek, Susan M., Nathanson, Katherine, Rebbeck, Timothy R., Arun, Banu K., Karlan, Beth Y., Walsh, Christine, Lester, Jenny, John, Esther M., Whittemore, Alice S., Daly, Mary B., Southey, Melissa ORCID: 0000-0002-6313-9005, Hopper, John, Terry, Mary B., Buys, Saundra S., Janavicius, Ramunas, Dorfling, Cecilia M., van Rensburg, Elizabeth J., Steele, Linda, Neuhausen, Susan L., Ding, Yuan Chun, Hansen, Thomas V. O., Jonson, Lars, Ejlertsen, Bent, Gerdes, Anne-Marie ORCID: 0000-0002-0328-3320, Infante, Mar ORCID: 0000-0002-7197-5249, Herraez, Belen, Moreno, Leticia Thais, Weitzel, Jeffrey N., Herzog, Josef, Weeman, Kisa, Manoukian, Siranoush, Peissel, Bernard ORCID: 0000-0001-9233-3571, Zaffaroni, Daniela ORCID: 0000-0002-6995-2216, Scuvera, Giulietta, Bonanni, Bernardo, Mariette, Frederique, Volorio, Sara, Viel, Alessandra ORCID: 0000-0003-2804-0840, Varesco, Liliana ORCID: 0000-0003-4871-6668, Papi, Laura ORCID: 0000-0003-4552-9517, Ottini, Laura, Tibiletti, Maria Grazia, Radice, Paolo ORCID: 0000-0001-6298-4111, Yannoukakos, Drakoulis ORCID: 0000-0001-7509-3510, Garber, Judy, Ellis, Steve, Frost, Debra, Platte, Radka, Fineberg, Elena, Evans, Gareth ORCID: 0000-0002-8482-5784, Lalloo, Fiona, Izatt, Louise, Eeles, Ros, Adlard, Julian ORCID: 0000-0002-1693-0435, Davidson, Rosemarie, Cole, Trevor, Eccles, Diana ORCID: 0000-0002-9935-3169, Cook, Jackie, Hodgson, Shirley, Brewer, Carole, Tischkowitz, Marc ORCID: 0000-0002-7880-0628, Douglas, Fiona, Porteous, Mary, Side, Lucy, Walker, Lisa, Morrison, Patrick, Donaldson, Alan, Kennedy, John, Foo, Claire, Godwin, Andrew K., Schmutzler, Rita Katharina, Wappenschmidt, Barbara, Rhiem, Kerstin, Engel, Christoph ORCID: 0000-0002-7247-282X, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert ORCID: 0000-0003-4523-8808, Plendl, Hans Joerg, Niederacher, Dieter, Sutter, Christian, Wang-Gohrke, Shan, Steinemann, Doris, Preisler-Adams, Sabine, Kast, Karin, Varon-Mateeva, Raymonda, Gehrig, Andrea, Stoppa-Lyonnet, Dominique, Sinilnikova, Olga M., Mazoyer, Sylvie ORCID: 0000-0002-2135-0160, Damiola, Francesca ORCID: 0000-0002-0238-1252, Poppe, Bruce, Claes, Kathleen ORCID: 0000-0003-0841-7372, Piedmonte, Marion, Tucker, Kathy, Backes, Floor ORCID: 0000-0002-9225-6913, Rodriguez, Gustavo, Brewster, Wendy, Wakeley, Katie, Rutherford, Thomas, Caldes, Trinidad, Nevanlinna, Heli ORCID: 0000-0002-0916-2976, Aittomaki, Kristiina, Rookus, Matti A., van Os, Theo A. M., van der Kolk, Lizet, de Lange, J. L., Meijers-Heijboer, Hanne E. J., van der Hout, A. H., van Asperen, Christi J., Gomez Garcia, Encarna B., Hoogerbrugge, Nicoline ORCID: 0000-0003-2393-8141, Collee, J. Margriet, van Deurzen, Carolien H. M., van der Luijt, Rob B., Devilee, Peter ORCID: 0000-0002-8023-2009, Olah, Edith, Lazaro, Conxi, Teule, Alex, Menendez, Mireia, Jakubowska, Anna ORCID: 0000-0002-5650-0501, Cybulski, Cezary, Gronwald, Jacek ORCID: 0000-0002-3643-2871, Lubinski, Jan ORCID: 0000-0003-2931-3003, Durda, Katarzyna, Jaworska-Bieniek, Katarzyna, Johannsson, Oskar Th, Maugard, Christine, Montagna, Marco, Tognazzo, Silvia ORCID: 0000-0002-6260-1261, Teixeira, Manuel R., Healey, Sue, Olswold, Curtis, Guidugli, Lucia, Lindor, Noralane, Slager, Susan, Szabo, Csilla I., Vijai, Joseph, Robson, Mark ORCID: 0000-0002-3109-1692, Kauff, Noah ORCID: 0000-0001-7242-6156, Zhang, Liying, Rau-Murthy, Rohini, Fink-Retter, Anneliese, Singer, Christian F., Rappaport, Christine, Kaulich, Daphne Geschwantler, Pfeiler, Georg, Tea, Muy-Kheng, Berger, Andreas, Phelan, Catherine M., Greene, Mark H., Mai, Phuong L., Lejbkowicz, Flavio, Andrulis, Irene, Mulligan, Anna Marie ORCID: 0000-0002-7239-5297, Glendon, Gord, Toland, Amanda Ewart, Bojesen, Anders ORCID: 0000-0003-4289-8595, Pedersen, Inge Sokilde ORCID: 0000-0002-9902-8040, Sunde, Lone ORCID: 0000-0002-8479-165X, Thomassen, Mads, Kruse, Torben A., Jensen, Uffe Birk ORCID: 0000-0002-6205-6355, Friedman, Eitan, Laitman, Yael, Shimon, Shani Paluch, Simard, Jacques, Easton, Douglas F., Offit, Kenneth, Couch, Fergus J., Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Antoniou, Antonis C. and Benitez, Javier (2014). DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. PLoS Genet., 10 (4). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1553-7404

Thomassen, Mads, Mesman, Romy L. S., Hansen, Thomas V. O., Menendez, Mireia, Rossing, Maria, Esteban-Sanchez, Ada ORCID: 0000-0002-1850-590X, Tudini, Emma ORCID: 0000-0002-5834-7862, Torngren, Therese, Parsons, Michael T., Pedersen, Inge S., Teo, Soo H., Kruse, Torben A., Moller, Pal, Borg, Ake, Jensen, Uffe B., Christensen, Lise L., Singer, Christian F., Muhr, Daniela, Santamarina, Marta, Brandao, Rita, Andresen, Brage S., Feng, Bing-Jian, Canson, Daffodil ORCID: 0000-0002-8104-822X, Richardson, Marcy E., Karam, Rachid, Pesaran, Tina, LaDuca, Holly, Conner, Blair R., Abualkheir, Nelly, Hoang, Lily, Calleja, Fabienne M. G. R., Andrews, Lesley, James, Paul A., Bunyan, Dave, Hamblett, Amanda, Radice, Paolo, Goldgar, David E., Walker, Logan C., Engel, Christoph ORCID: 0000-0002-7247-282X, Claes, Kathleen B. M., Machackova, Eva ORCID: 0000-0002-0246-1471, Baralle, Diana, Viel, Alessandra, Wappenschmidt, Barbara, Lazaro, Conxi, Vega, Ana, Vreeswijk, Maaike P. G., de la Hoya, Miguel and Spurdle, Amanda B. (2022). Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach. Hum. Mutat., 43 (12). S. 1921 - 1945. LONDON: WILEY-HINDAWI. ISSN 1098-1004

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