Decoding NF1 Intragenic Copy-Number Variations by Hsiao, Meng-Chang, Piotrowski, Arkadiusz, Callens, Tom, Fu, Chuanhua, Wimmer, Katharina, Claes, Kathleen B.M., Messiaen, Ludwine

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Enhanced MCP-1 Release in Early Autosomal Dominant Polycystic Kidney Disease by Janssens, Peter, Decuypere, Jean-Paul, De Rechter, Stéphanie, Breysem, Luc, Van Giel, Dorien, Billen, Jaak, Hindryckx, An, De Catte, Luc, Baldewijns, Marcella, Claes, Kathleen B.M., Wissing, Karl M., Devriendt, Koen, Bammens, Bert, Meyts, Isabelle, Torres, Vicente E., Vennekens, Rudi, Mekahli, Djalila

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EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer by McDevitt, Trudi, Durkie, Miranda, Arnold, Norbert, Burghel, George J, Butler, Samantha, Claes, Kathleen B M, Logan, Peter, Robinson, Rachel, Sheils, Katie, Wolstenholme, Nicola, Hanson, Helen, Turnbull, Clare, Hume, Stacey

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Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer by Ferreira, Manuel A., Andrulis, Irene L., Anton-Culver, Hoda, Aronson, Kristan J., Barnes, Daniel R., Beckmann, Matthias W., Behrens, Sabine, Bermisheva, Marina, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Brauch, Hiltrud, Campa, Daniele, Campbell, Ian, Canzian, Federico, Carter, Jonathan, Castelao, Jose E., Chang-Claude, Jenny, Couch, Fergus J., Cox, Angela, Cross, Simon S., de la Hoya, Miguel, Dennis, Joe, Devilee, Peter, Dörk, Thilo, Ejlertsen, Bent, Engel, Christoph, Eriksson, Mikael, Fletcher, Olivia, Flyger, Henrik, Frost, Debra, Gabrielson, Marike, Gapstur, Susan M., Garber, Judy, García-Sáenz, José A., Giles, Graham G., Glendon, Gord, Godwin, Andrew K., González-Neira, Anna, Gronwald, Jacek, Guénel, Pascal, Hall, Per, Hamann, Ute, He, Wei, Hulick, Peter J., Humphreys, Keith, Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna, James, Paul A., John, Esther M., Johnson, Nichola, Karlan, Beth Y., Khusnutdinova, Elza, Kiiski, Johanna I., Jones, Michael E., Konstantopoulou, Irene, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lindström, Sara, Manoochehri, Mehdi, Margolin, Sara, McGuffog, Lesley, Michailidou, Kyriaki, Montagna, Marco, Moreno, Fernando, Moserle, Lidia, Nevelsteen, Ines, Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Park-Simon, Tjoung-Won, Pedersen, Inge Sokilde, Peixoto, Ana, Peterlongo, Paolo, Poppe, Bruce, Presneau, Nadege, Risch, Harvey A., Saloustros, Emmanouil, Sanden, Kristin, Simard, Jacques, Singer, Christian F., Soucy, Penny, Spinelli, John J., Spurdle, Amanda B., Taylor, Jack A., Thöne, Kathrin, Toland, Amanda E., Tung, Nadine, Vachon, Celine M., van Asperen, Christi J., van Rensburg, Elizabeth J., Weitzel, Jeffrey N., Winqvist, Robert, Yannoukakos, Drakoulis, Zheng, Wei, Beesley, Jonathan

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SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints by Vogt, Julia, Bengesser, Kathrin, Claes, Kathleen B M, Wimmer, Katharina, Mautner, Victor-Felix, van Minkelen, Rick, Legius, Eric, Brems, Hilde, Upadhyaya, Meena, Högel, Josef, Lazaro, Conxi, Rosenbaum, Thorsten, Bammert, Simone, Messiaen, Ludwine, Cooper, David N, Kehrer-Sawatzki, Hildegard

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Shared heritability and functional enrichment across six solid cancers by Jiang, Xia, Schmit, Stephanie L., Han, Younghun, Lesseur, Corina, Dennis, Joe, Conti, David V., Gaudet, Mia M., Andrew, Angeline S., Antonenkova, Natalia N., Benitez, Javier, Berchuck, Andrew, Bickeböller, Heike, Blomqvist, Carl, Butzow, Ralf, Caligo, Maria A., Campbell, Peter T., Carvalho, André L., Claes, Kathleen B. M., Claessens, Frank, Clements, Judith, Couch, Fergus J., Cybulski, Cezary, Devilee, Peter, Diez, Orland, Duell, Eric J., Dunning, Alison M., Edlund, Christopher K., Fasching, Peter A., Figueiredo, Jane C., Fletcher, Olivia, Fostira, Florentia, Franceschi, Silvia, Ganz, Patricia A., Garber, Judy, Goldgar, David E., Greene, Mark H., Guénel, Pascal, Haugen, Aage, Herrero, Rolando, Hoffmeister, Michael, Hunter, David J., Huntsman, David G., Jakubowska, Anna, Kaneva, Radka, Karlan, Beth Y., Kühl, Tabea, Kibel, Adam S., Kjaer, Susanne K., Knight, Julia A., Kote-Jarai, Zsofia, Kristensen, Vessela N., Lambrechts, Diether, Lee, Eunjung, Lejbkowicz, Flavio, Lester, Jenny, Levine, Douglas A., Li, Christopher I., Loupakis, Fotios, Maehle, Lovise, Mannermaa, Arto, Margolin, Sara, Modugno, Francesmary, Moreno, Victor, Nevanlinna, Heli, Nielsen, Finn Cilius, Olah, Edith, Olshan, Andrew F., Olsson, Håkan, Park, Jong Y., Prokofyeva, Darya, Ramus, Susan J., van Rensburg, Elizabeth J., Riggan, Marjorie J., Risch, Angela, Rosenstein, Barry S., De Ruyck, Kim, Saloustros, Emmanouil, Sawyer, Elinor J., Sieh, Weiva, Sorensen, Karina Dalsgaard, Sutphen, Rebecca, Tardon, Adonina, Thibodeau, Stephen N., Toland, Amanda E., Travis, Ruth C., Ulrich, Cornelia M., Usmani, Nawaid, Aguado-Barrera, Miguel Elías, Weissler, Mark C., West, Catharine M. L., White, Emily, Wichmann, H-Erich, Winqvist, Robert, Wolk, Alicja, Yannoukakos, Drakoulis, Zienolddiny, Shanbeh, Peters, Ulrike, Simard, Jacques, Amos, Christopher I., Lindström, Sara

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Timing of blood sampling for butyrylcholinesterase phenotyping in patients with prolonged neuromuscular block after mivacurium or suxamethonium by Mintjens, Nesse, Brummans, Roy, Soetens, Filiep, Claes, Kathleen B. M., Vanlinthout, Luc E.

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Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene by Backers, Lynn, Parton, Bram, De Bruyne, Marieke, Tavernier, Simon J., Van Den Bogaert, Kris, Lambrecht, Bart N., Haerynck, Filomeen, Claes, Kathleen B.M.

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Long term response on Regorafenib in non-V600E BRAF mutated colon cancer: a case report by Callebout, Eduard, Ribeiro, Suzane Moura, Laurent, Stephanie, De Man, Marc, Ferdinande, Liesbeth, Claes, Kathleen B M, Van der Meulen, Joni, Geboes, Karen P

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BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer by Shimelis, Hermela, Mesman, Romy L S, Von Nicolai, Catharina, Ehlen, Asa, Guidugli, Lucia, Martin, Charlotte, Calléja, Fabienne M G R, Meeks, Huong, Hallberg, Emily, Hinton, Jamie, Lilyquist, Jenna, Hu, Chunling, Aalfs, Cora M, Aittomäki, Kristiina, Andrulis, Irene, Anton-Culver, Hoda, Arndt, Volker, Beckmann, Matthias W, Benitez, Javier, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Borresen-Dale, Anne-Lise, Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Broeks, Annegien, Brouwers, Barbara, Brüning, Thomas, Burwinkel, Barbara, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Cheng, Ching-Yu, Choi, Ji-Yeob, Collée, J Margriet, Cox, Angela, Cross, Simon S, Czene, Kamila, Darabi, Hatef, Dennis, Joe, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dunning, Alison M, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, García-Closas, Montserrat, Giles, Graham G, Glendon, Gord, Guénel, Pascal, Haiman, Christopher A, Hall, Per, Hamann, Ute, Hartman, Mikael, Hogervorst, Frans B, Hollestelle, Antoinette, Hopper, John L, Ito, Hidemi, Jakubowska, Anna, Kang, Daehee, Kosma, Veli-Matti, Kristensen, Vessela, Lai, Kah-Nyin, Lambrechts, Diether, Marchand, Loic Le, Li, Jingmei, Lindblom, Annika, Lophatananon, Artitaya, Lubinski, Jan, Machackova, Eva, Mannermaa, Arto, Margolin, Sara, Marme, Frederik, Matsuo, Keitaro, Miao, Hui, Michailidou, Kyriaki, Milne, Roger L, Muir, Kenneth, Neuhausen, Susan L, Nevanlinna, Heli, Olson, Janet E, Olswold, Curtis, Oosterwijk, Jan J C, Osorio, Ana, Peterlongo, Paolo, Peto, Julian, Pharoah, Paul D P, Pylkäs, Katri, Radice, Paolo, Rashid, Muhammad Usman, Rhenius, Valerie, Rudolph, Anja, Sangrajrang, Suleeporn, Sawyer, Elinor J, Schmidt, Marjanka K, Schoemaker, Minouk J, Seynaeve, Caroline, Shah, Mitul, Shen, Chen-Yang, Shrubsole, Martha

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Accurate quantification of homologous recombination in zebrafish: brca2 deficiency as a paradigm by Vierstraete, Jeroen, Willaert, Andy, Vermassen, Petra, Coucke, Paul J., Vral, Anne, Claes, Kathleen B. M.

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Accurate detection and quantification of epigenetic and genetic second hits in BRCA1 and BRCA2-associated hereditary breast and ovarian cancer reveals multiple co-acting second hit... by Van Heetvelde, Mattias, Van Bockstal, Mieke, Poppe, Bruce, Lambein, Kathleen, Rosseel, Toon, Atanesyan, Lilit, Deforce, Dieter, Van Den Berghe, Ivo, De Leeneer, Kim, Van Dorpe, Jo, Vral, Anne, Claes, Kathleen B.M.

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Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences by Summerer, Anna, Mautner, Victor-Felix, Upadhyaya, Meena, Claes, Kathleen B. M., Högel, Josef, Cooper, David N., Messiaen, Ludwine, Kehrer-Sawatzki, Hildegard

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Chromosomal radiosensitivity of triple negative breast cancer patients by Francies, Flavia Zita, Herd, Olivia, Cairns, Alan, Nietz, Sarah, Murdoch, Marshall, Slabbert, Jacobus, Claes, Kathleen B. M., Vral, Anne, Baeyens, Ans

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Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer by Couch, Fergus J., Mendoza-Fandino, Gustavo A., Nord, Silje, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arver, Brita, Barile, Monica, Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Caligo, Maria A., Claes, Kathleen B. M., Cross, Simon S., Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Dolcetti, Riccardo, Dorfling, Cecilia M., Försti, Asta, Foulkes, William D., Friebel, Tara, Gabrielson, Marike, Garber, Judy, Gaudet, Mia M., Gerdes, Anne-Marie, Ghoussaini, Maya, Goldgar, David E., Haeberle, Lothar, Hart, Steven, Healey, Sue, Herzog, Josef, Hogervorst, Frans B. L., Hopper, John L., Huzarski, Tomasz, Jakubowska, Anna, Janavicius, Ramunas, Jones, Michael, Kar, Siddhartha, Karlan, Beth Y., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kwong, Ava, Liu, Jianjun, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Miller, Austin, Montagna, Marco, Mulligan, Anna M., Nathanson, Katherine L., Olson, Janet E., Osorio, Ana, Park, Sue K., Peto, Julian, Pilarski, Robert, Poppe, Bruce, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rutgers, Emiel J., Sanchez, Maria-Jose, Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Scott, Rodney, Senter, Leigha, Simard, Jacques, Sinilnikova, Olga M., Szabo, Csilla I., Tapper, William, Teixeira, Manuel R., Thomassen, Mads, Thompson, Deborah, Truong, Thérèse, Tsimiklis, Helen, Turnbull, Clare, Ursin, Giski, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Yang, Xiaohong R., Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Monteiro, Alvaro A. N., Easton, Douglas F.

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Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation by Baert, Annelot, Depuydt, Julie, Van Maerken, Tom, Poppe, Bruce, Malfait, Fransiska, Storm, Katrien, van den Ende, Jenneke, Van Damme, Tim, De Nobele, Sylvia, Perletti, Gianpaolo, De Leeneer, Kim, Claes, Kathleen B M, Vral, Anne

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ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk by 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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Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort by Hendricks, Linda A.J., Hoogerbrugge, Nicoline, Venselaar, Hanka, Aretz, Stefan, Spier, Isabel, Legius, Eric, Brems, Hilde, de Putter, Robin, Claes, Kathleen B.M., Evans, D. Gareth, Woodward, Emma R., Genuardi, Maurizio, Brugnoletti, Fulvia, van Ierland, Yvette, Dijke, Kim, Tham, Emma, Tesi, Bianca, Schuurs-Hoeijmakers, Janneke H.M., Branchaud, Maud, Salvador, Hector, Jahn, Arne, Schnaiter, Simon, Anastasiadou, Violetta Christophidou, Brunet, Joan, Oliveira, Carla, Roht, Laura, Blatnik, Ana, Irmejs, Arvids, Duijkers, Floor, Giltay, Jacques C., van Hest, Liselotte P., Kleefstra, Tjitske, Leter, Edward M., Nielsen, Maartje, Nijmeijer, Sebastiaan W.R., Olderode-Berends, Maran J.W., Mensenkamp, Arjen R., Vos, Janet R.

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The Zebrafish as an Emerging Model to Study DNA Damage in Aging, Cancer and Other Diseases by Cayuela, Maria Luisa, Claes, Kathleen B M, Ferreira, Miguel Godinho, Henriques, Catarina Martins, van Eeden, Fredericus, Varga, Máté, Vierstraete, Jeroen, Mione, Maria Caterina

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Identification of potentially actionable genetic variants in epithelial ovarian cancer: a retrospective cohort study by Fieuws, Charlotte, Van der Meulen, Joni, Proesmans, Kristiaan, De Jaeghere, Emiel A., Loontiens, Siebe, Van Dorpe, Jo, Tummers, Philippe, Denys, Hannelore, Van de Vijver, Koen, Claes, Kathleen B. M.

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