Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer von Velázquez, Carolina, K., De Leeneer, Esteban-Cardeñosa, Eva M., Avila Cobos, Francisco, Lastra, Enrique, Abella, Luis E., de la Cruz, Virginia, Lobatón, Carmen D., Claes, Kathleen B., Durán, Mercedes, Infante, Mar

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miRNA expression profiles in BRCA1-associated breast cancers reveal upregulation of specific miRNAs in tumors lacking a clear second hit in a large proportion of the tumour von Van Heetvelde, M., Van Bockstal, M.R., Van Dorpe, J., De Leeneer, K., Vral, A., Claes, K.

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BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer von Francies, F Z, Wainstein, T, De Leeneer, K, Cairns, A, Murdoch, M, Nietz, S, Cubasch, H, Poppe, B, Van Maerken, T, Crombez, B, Coene, I, Kerr, R, Slabbert, J P, Vral, A, Krause, A, Baeyens, A, Claes, K B M

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Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families von Osher, D J, De Leeneer, K, Michils, G, Hamel, N, Tomiak, E, Poppe, B, Leunen, K, Legius, E, Shuen, A, Smith, E, Arseneau, J, Tonin, P, Matthijs, G, Claes, K, Tischkowitz, M D, Foulkes, W D

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Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing von De Leeneer, K., Van Bockstal, M., De Brouwer, S., Swietek, N., Schietecatte, P., Sabbaghian, N., Van den Ende, J., Willocx, S., Storm, K., Blaumeiser, B., Van Asperen, C. J., Wijnen, J. T., Leunen, K., Legius, E., Michils, G., Matthijs, G., Blok, M. J., Gomez-Garcia, E., De Paepe, A., Tischkowitz, M., Poppe, B., Claes, K.

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Next Generation Sequencing to Determine the Cystic Fibrosis Mutation Spectrum in Palestinian Population von Farraj, Mohammad A., Coucke, P. J., Claes, Kathleen, De Paepe, Anne, De Pauw, K., Steyaert, W., De Leeneer, K., Essawi, O., Essawi, Tamer

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LBA 1miRNA expression profiles in BRCA1-associated breast cancers reveal upregulation of specific miRNAs in tumors lacking a clear second hit in a large proportion of the tumour von Heetvelde, M Van, Bockstal, M R Van, Dorpe, J Van, Leeneer, K De, Vral, A, Claes, K

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Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus von AlMoallem, Basamat, Bauwens, Miriam, Walraedt, Sophie, Delbeke, Patricia, De Zaeytijd, Julie, Kestelyn, Philippe, Meire, Françoise, Janssens, Sandra, van Cauwenbergh, Caroline, Verdin, Hannah, Hooghe, Sally, Kumar Thakur, Prasoon, Coppieters, Frauke, De Leeneer, Kim, Devriendt, Koenraad, Leroy, Bart P, De Baere, Elfride

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Second hit landscape in BRCA1/2-associated breast cancer von Van Heetvelde, M., Van Bockstal, M., Lepez, T., Lambein, K., Deforce, D., Vral, A., Poppe, B., De Leeneer, K., Van Dorpe, J., Claes, K.

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Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families von Osher, D.J, De Leeneer, K, Michils, G, Hamel, N, Tomiak, E, Poppe, B, Leunen, K, Legius, Eric, Shuen, A, Smith, E, Arseneau, J, Tonin, P, Matthijs, Gert, Claes, K, Tischkowitz, M.D, Foulkes, W.D

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Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing von De Leeneer, K, Van Bockstal, M, De Brouwer, S, Swietek, N, Schietecatte, P, Sabbaghian, N, Van den Ende, J, Willocx, S, Storm, K, Blaumeiser, B, Van Asperen, C.J, Wijnen, J.T, Leunen, K, Legius, Eric, Michils, G, Matthijs, Gert, Blok, M.J, Gomez-Garcia, E, De Paepe, A, Tischkowitz, M, Poppe, B, Claes, K

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Novel and known FRMD7 mutations and copy number variation in Belgian patients with X‐linked idiopathic infantile nystagmus von ALMOALLEM, B, BAUWENS, M, WALRAEDT, S, DELBEKE, P, VERDIN, H, VAN CAUWENBERGH, C, DE LEENEER, K, HOOGHE, S, KESTELYN, P, AL‐OBEIDAN, S, DE ZAEYTIJD, J, LEROY, BP, DE BAERE, E

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Breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers using polygenic risk scores von Barnes, D.R., Silvestri, V., Leslie, G., McGuffog, L., Dennis, J., Adlard, J., Agnarsson, B.A., Ahmed, M., Aittomaki, K., Andrulis, I.L., Arason, A., Arnold, N., Barkardottir, R.B., Barrowdale, D., Barwell, J., Belotti, M., Berthet, P., Boonen, S.E., Borg, A., Bozsik, A., Brady, A.F., Brewer, C., Bucalo, A., Buys, S.S., Caldes, T., Christensen, L.L., Cini, G., Claes, K.B.M., Cook, J., Coppa, A., Cortesi, L., Damante, G., Davidson, R., Hoya, M. de la, Leeneer, K. de, Valle, J. del, Diez, O., Donaldson, A., Engel, C., Feliubadalo, L., Frone, M., Gallagher, D., Giraud, S., Glendon, G., Godwin, A.K., Goldgar, D.E., Greene, M.H., Gregory, H., Gross, E., Hahnen, E., Hentschel, J., Izatt, L., Janavicius, R., Jensen, U.B., Kramer, G., Kroeldrup, L., Kruse, T.A., Lazaro, C., Lesueur, F., Mai, P.L., Manoukian, S., Matrai, Z., Matricardi, L., Mebirouk, N., Monteiro, A.N., Morrison, P.J., Murray, A., Nathanson, K.L., Neuhausen, S.L., Tu, N.D., Parsons, M.T., Pedersen, I.S., Peterlongo, P., Petersen, A.H., Pinto, P., Pottinger, C., Pujana, M.A., Radice, P., Rantala, J., Robson, M., Rump, A., Abajo, A.M.S. de, Stadler, Z., Stoppa-Lyonnet, D., Sutter, C., Teixeira, M.R., Teule, A., Tischkowitz, M., Toland, A.E., Toss, A., Trainer, A.H., Tripathi, V., Valentini, V., Venturelli, M., Vijai, J., Wang-Gohrke, S., Wappenschmidt, B., Offit, K., Easton, D.F., Chenevix-Trench, G.

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ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variant... von Bauwens, M, Garanto, A, Sangermano, R, Naessens, S, Weisschuh, N, De Zaeytijd, J, Khan, M, Sadler, F, Balikova, I, Van Cauwenbergh, C, Rosseel, T, Bauwens, J, De Leeneer, K, De Jaegere, S, Van Laethem, T, De Vries, M, Carss, K, Arno, G, Fakin, A, Webster, AR, de Ravel de l'Argentière, TJL, Sznajer, Y, Vuylsteke, M, Kohl, S, Wissinger, B, Cherry, T, Collin, RWJ, Cremers, FPM, Leroy, BP, De Baere, E

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Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer... von Hamdi, Y., Pastinen, T., Droit, A., Lemacon, A., Adlard, J., Aittomaki, K., Andrulis, I.L., Arason, A., Arnold, N., Barjhoux, L., Benitez, J., Berthet, P., Blok, M.J., Bobolis, K., Bonadona, V., Bradbury, A.R., Caligo, M.A., Chiquette, J., Claes, K.B.M., Hoya, M. de la, Leeneer, K. de, Ding, Y.C., Dorfling, C.M., Eccles, D., Eeles, R., Engel, C., Evans, D.G., Fostira, F., Fountzilas, G., Friedman, E., Gayther, S.A., Gerdes, A.M., Glendon, G., Goldgar, D.E., Greene, M.H., Hart, S., Hays, J.L., Hogervorst, F.B.L., Imyanitov, E.N., Isaacs, C., Izatt, L., Jensen, U.B., John, E.M., Just, W., Kaczmarek, K., Kets, C.M., Kriege, M., Laitman, Y., Laurent, M., Lazaro, C., Lesueur, F., Liljegren, A., Loman, N., Loud, J.T., Mazoyer, S., McGuffog, L., Nathanson, K.L., Neuhausen, S.L., Nevanlinna, H., Nussbaum, R.L., Olah, E., Olopade, O.I., Oosterwijk, J.C., Park, S.K., Peissel, B., Segura, P.P., Radice, P., Rappaport-Fuerhauser, C., Rennert, G., Robson, M., Rodriguez, G.C., Schmutzler, R.K., Shah, P.D., Slavin, T.P., Sonderstrup, I.M.H., Southey, M., Spurdle, A.B., Stadler, Z., Stoppa-Lyonnet, D., Sutter, C., Tan, Y., Tea, M.K., Teixeira, M.R., Teule, A., Terry, M.B., Thomassen, M., Tihomirova, L., Tognazzo, S., Toland, A.E., Ouweland, A.M.W. van den, Rensburg, E.J. van, Varon-Mateeva, R., Wappenschmidt, B., Wijnen, J.T., Rebbeck, T., Chenevix-Trench, G., Offit, K., Nord, S., Easton, D.F., Antoniou, A.C.

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Additional file 2: Table S2. of BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative b... von F. Francies, T. Wainstein, K. De Leeneer, A. Cairns, M. Murdoch, S. Nietz, H. Cubasch, B. Poppe, T. Van Maerken, B. Crombez, I. Coene, R. Kerr, J. Slabbert, A. Vral, A. Krause, A. Baeyens, K. Claes

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Additional file 1: Table S1. of BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative b... von F. Francies, T. Wainstein, K. De Leeneer, A. Cairns, M. Murdoch, S. Nietz, H. Cubasch, B. Poppe, T. Van Maerken, B. Crombez, I. Coene, R. Kerr, J. Slabbert, A. Vral, A. Krause, A. Baeyens, K. Claes

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BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding von Burke, Leslie J., Sevcik, Jan, Gambino, Gaetana, Tudini, Emma, Mucaki, Eliseos J., Shirley, Ben C., Whiley, Phillip, Parsons, Michael T., Leeneer, Kim, Gutiérrez‐Enríquez, Sara, Santamariña, Marta, Caputo, Sandrine M., Santana dos Santos, Elizabeth, Soukupova, Jana, Janatova, Marketa, Zemankova, Petra, Lhotova, Klara, Stolarova, Lenka, Borecka, Mariana, Moles‐Fernández, Alejandro, Manoukian, Siranoush, Bonanni, Bernardo, Edwards, Stacey L., Blok, Marinus J., Overeem Hansen, Thomas, Rossing, Maria, Diez, Orland, Vega, Ana, Claes, Kathleen B.M., Goldgar, David E., Rouleau, Etienne, Radice, Paolo, Peterlongo, Paolo, Rogan, Peter K., Caligo, Maria, Spurdle, Amanda B., Brown, Melissa A.

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ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk von Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K, Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Blok, Marinus J, Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S, Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, D Gareth R, Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B, González, Sara, Haiman, Christopher, Hansen, Thomas van Overeem, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Ishak, Nur Diana Binte, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, James, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Lori, Adriana, Martinez, Elana, Martins, Alexandra, Matsuda, Koichi, Matullo, Giuseppe, McInerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N A, Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L, Nevanlinna, Heli, Olson, Janet E, Palmer, Julie, Pasini, Barbara, Patel, Alpa, Piane, Maria, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E, Rosseel, Toon, Ruddy, Kathryn J, Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Toland, Amanda E, Trentham-Dietz, Amy, Vachon, Celine M, Volk, Alexander E, Weber-Lassalle, Nana, Weitzel, Jeffrey N, Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yao, Song, Zampiga, Valentina, Zethoven, Magnus, Zhang, Ze Wen, Zima, Tomas, Spurdle, Amanda B, Vega, Ana, Rossing, Maria

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Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores von Leslie, Goska, Dennis, Joe, Yang, Xin, Adlard, Julian, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Arnold, Norbert, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barwell, Julian, Belotti, Muriel, Berthet, Pascaline, Boonen, Susanne E, Borg, Åke, Brennan, Paul, Brewer, Carole, Bucalo, Agostino, Buys, Saundra S, Campbell, Ian, Cassingham, Hayley, Christensen, Lise Lotte, Claes, Kathleen B M, Coppa, Anna, Damante, Giuseppe, Davidson, Rosemarie, De Leeneer, Kim, de Putter, Robin, Del Valle, Jesús, Ding, Yuan Chun, Domchek, Susan M, Donaldson, Alan, Eason, Jacqueline, Eeles, Ros, Evans, D Gareth, Feliubadaló, Lidia, Gehrig, Andrea, Giraud, Sophie, Godwin, Andrew K, Gregory, Helen, Hahnen, Eric, Hamann, Ute, Hansen, Thomas V O, Hentschel, Julia, Horvath, Judit, Izquierdo, Angel, Jensen, Uffe Birk, John, Esther M, Kruse, Torben A, Lautrup, Charlotte, Lesueur, Fabienne, Manoukian, Siranoush, Meindl, Alfons, Monteiro, Alvaro N, Morrison, Patrick J, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Niederacher, Dieter, Olah, Edith, Olopade, Olufunmilayo I, Palli, Domenico, Parsons, Michael T, Pedersen, Inge Sokilde, Perez-Segura, Pedro, Petersen, Annabeth H, Pinto, Pedro, Pottinger, Caroline, Ramser, Juliane, Rantala, Johanna, Robson, Mark, Rogers, Mark T, Sánchez de Abajo, Ana María, Shah, Payal D, Sharif, Saba, Side, Lucy E, Steele, Linda, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teulé, Alex, Thull, Darcy L, Tischkowitz, Marc, Toland, Amanda E, Tommasi, Stefania, Toss, Angela, Trainer, Alison H, van Asperen, Christi J, Venturelli, Marta, Vijai, Joseph, Walker, Lisa, Wang-Gohrke, Shan, Whaite, Anna, Offit, Kenneth, Simard, Jacques, Easton, Douglas F, Chenevix-Trench, Georgia, Ottini, Laura

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