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201. Pooled analysis indicates that the GSTT1 deletion, GSTM1 deletion, and GSTP1 Ile105Val polymorphisms do not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers

Author: Spurdle, Amanda B., Fahey, Paul, Chen, Xiaoqing, McGuffog, Lesley, Easton, Douglas, Peock, Susan, Cook, Margaret, Simard, Jacques, Rebbeck, Tim R., Antoniou, Antonis C., Chenevix-Trench, Georgia, kConFab, EMBRACE, INHERIT, and MAGIC
Published: 2010
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202. Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium

Author: Milne, Roger L., Burwinkel, Barbara, Michailidou, Kyriaki, Arias-Perez, Jose-Ignacio, Zamora, M. Pilar, Menéndez-Rodríguez, Primitiva, Hardisson, David, Mendiola, Marta, González-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Dennis, Joe, Wang, Qin, Bolla, Manjeet K., Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk, Ko, Yon-Dschun, Brauch, Hiltrud, Hamann, Ute, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Tajima, Kazuo, Li, Jingmei, Brand, Judith S., Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Lambrechts, Diether, Peuteman, Gilian, Christiaens, Marie-Rose, Smeets, Ann, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katazyna, Hartman, Mikael, Hui, Miao, Yen Lim, Wei, Wan Chan, Ching, Marme, Federick, Yang, Rongxi, Bugert, Peter, Lindblom, Annika, Margolin, Sara, García-Closas, Montserrat, Chanock, Stephen J., Lissowska, Jolanta, Figueroa, Jonine D., Bojesen, Stig E., Nordestgaard, Børge G., Flyger, Henrik, Hooning, Maartje J., Kriege, Mieke, van den Ouweland, Ans M.W., Koppert, Linetta B., Fletcher, Olivia, Johnson, Nichola, dos-Santos-Silva, Isabel, Peto, Julian, Zheng, Wei, Deming-Halverson, Sandra, Shrubsole, Martha J., Long, Jirong, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Cox, Angela, Cross, Simon S., Reed, Malcolm W.R., Schmidt, Marjanka K., Broeks, Annegien, Cornelissen, Sten, Braaf, Linde, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K., Noh, Dong-Young, Simard, Jacques, Dumont, Martine, Goldberg, Mark S., Labrèche, France, Fasching, Peter A., Hein, Alexander, Ekici, Arif B., Beckmann, Matthias W., Radice, Paolo, Peterlongo, Paolo, Azzollini, Jacopo, Barile, Monica, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Miller, Nicola, Hopper, John L., Schmidt, Daniel F., Makalic, Enes, Southey, Melissa C., Hwang Teo, Soo, Har Yip, Cheng, Sivanandan, Kavitta, Tay, Wan-Ting, Shen, Chen-Yang, Hsiung, Chia-Ni, Yu, Jyh-Cherng, Hou, Ming-Feng, Guénel, Pascal, Truong, Therese, Sanchez, Marie, Mulot, Claire, Blot, William, Cai, Qiuyin, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Wu, Anna H., Tseng, Chiu-Chen, Van Den Berg, David, Stram, Daniel O., Bogdanova, Natalia, Dörk, Thilo, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Zhang, Ben, Couch, Fergus J., Toland, Amanda E., Yannoukakos, Drakoulis, Sangrajrang, Suleeporn, McKay, James, Wang, Xianshu, Olson, Janet E., Vachon, Celine, Purrington, Kristen, Severi, Gianluca, Baglietto, Laura, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Devilee, Peter, Tollenaar, Robert A.E.M., Seynaeve, Caroline, Czene, Kamila, Eriksson, Mikael, Humphreys, Keith, Darabi, Hatef, Ahmed, Shahana, Shah, Mitul, Pharoah, Paul D.P., Hall, Per, Giles, Graham G., Benítez, Javier, Dunning, Alison M., Chenevix-Trench, Georgia, Easton, Douglas F., Berchuck, Andrew, Eeles, Rosalind A., Olama, Ali Amin Al, Kote-Jarai, Zsofia, Benlloch, Sara, Antoniou, Antonis, McGuffog, Lesley, Offit, Ken, Lee, Andrew, Dicks, Ed, Luccarini, Craig, Tessier, Daniel C., Bacot, Francois, Vincent, Daniel, LaBoissière, Sylvie, Robidoux, Frederic, Nielsen, Sune F., Cunningham, Julie M., Windebank, Sharon A., Hilker, Christopher A., Meyer, Jeffrey, Angelakos, Maggie, Maskiell, Judi, Schoot, Ellen van der, Rutgers, Emiel, Verhoef, Senno, Hogervorst, Frans, Boonyawongviroj, Prat, Siriwanarungsan, Pornthep, Schrauder, Michael, Rübner, Matthias, Oeser, Sonja, Landrith, Silke, Williams, Eileen, Ryder-Mills, Elaine, Sargus, Kara, McInerney, Niall, Colleran, Gabrielle, Rowan, Andrew, Jones, Angela, Sohn, Christof, Schneewei, Andeas, Bugert, Peter, Álvarez, Núria, Lacey, James, Wang, Sophia, Ma, Huiyan, Lu, Yani, Deapen, Dennis, Pinder, Rich, Lee, Eunjung, Schumacher, Fred, Horn-Ross, Pam, Reynolds, Peggy, Nelson, David, Ziegler, Hartwig, Wolf, Sonja, Hermann, Volker, Lo, Wing-Yee, Justenhoven, Christina, Baisch, Christian, Fischer, Hans-Peter, Brüning, Thomas, Pesch, Beate, Rabstein, Sylvia, Lotz, Anne, Harth, Volker, Heikkinen, Tuomas, Erkkilä, Irja, Aaltonen, Kirsimari, Smitten, Karl von, Antonenkova, Natalia, Hillemanns, Peter, Christiansen, Hans, Myöhänen, Eija, Kemiläinen, Helena, Thorne, Heather, Niedermayr, Eveline, Bowtell, D, Chenevix-Trench, G, deFazio, A, Gertig, D, Green, A, Webb, P, Green, A., Parsons, P., Hayward, N., Webb, P., Whiteman, D., Fung, Annie, Yashiki, June, Peuteman, Gilian, Smeets, Dominiek, Brussel, Thomas Van, Corthouts, Kathleen, Obi, Nadia, Heinz, Judith, Behrens, Sabine, Eilber, Ursula, Celik, Muhabbet, Olchers, Til, Manoukian, Siranoush, Peissel, Bernard, Scuvera, Giulietta, Zaffaroni, Daniela, Bonanni, Bernardo, Feroce, Irene, Maniscalco, Angela, Rossi, Alessandra, Bernard, Loris, Tranchant, Martine, Valois, Marie-France, Turgeon, Annie, Heguy, Lea, Sze Yee, Phuah, Kang, Peter, Nee, Kang In, Mariapun, Shivaani, Sook-Yee, Yoon, Lee, Daphne, Ching, Teh Yew, Taib, Nur Aishah Mohd, Otsukka, Meeri, Mononen, Kari, Selander, Teresa, Weerasooriya, Nayana, staff, OFBCR, Krol-Warmerdam, E., Molenaar, J., Blom, J., Brinton, Louise, Szeszenia-Dabrowska, Neonila, Peplonska, Beata, Zatonski, Witold, Chao, Pei, Stagner, Michael, Bos, Petra, Blom, Jannet, Crepin, Ellen, Nieuwlaat, Anja, Heemskerk, Annette, Higham, Sue, Cross, Simon, Cramp, Helen, Connley, Dan, Balasubramanian, Sabapathy, Brock, Ian, Luccarini, Craig, Conroy, Don, Baynes, Caroline, and Chua, Kimberley
Published: 2014
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203. Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade

Author: Purrington, Kristen S., Slettedahl, Seth, Bolla, Manjeet K., Michailidou, Kyriaki, Czene, Kamila, Nevanlinna, Heli, Bojesen, Stig E., Andrulis, Irene L., Cox, Angela, Hall, Per, Carpenter, Jane, Yannoukakos, Drakoulis, Haiman, Christopher A., Fasching, Peter A., Mannermaa, Arto, Winqvist, Robert, Brenner, Hermann, Lindblom, Annika, Chenevix-Trench, Georgia, Benitez, Javier, Swerdlow, Anthony, Kristensen, Vessela, Guénel, Pascal, Meindl, Alfons, Darabi, Hatef, Eriksson, Mikael, Fagerholm, Rainer, Aittomäki, Kristiina, Blomqvist, Carl, Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Wang, Xianshu, Olswold, Curtis, Olson, Janet E., Mulligan, Anna Marie, Knight, Julia A., Tchatchou, Sandrine, Reed, Malcolm W.R., Cross, Simon S., Liu, Jianjun, Li, Jingmei, Humphreys, Keith, Clarke, Christine, Scott, Rodney, Fostira, Florentia, Fountzilas, George, Konstantopoulou, Irene, Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Ekici, Arif B., Hartmann, Arndt, Beckmann, Matthias W., Hartikainen, Jaana M., Kosma, Veli-Matti, Kataja, Vesa, Jukkola-Vuorinen, Arja, Pylkäs, Katri, Kauppila, Saila, Dieffenbach, Aida Karina, Stegmaier, Christa, Arndt, Volker, Margolin, Sara, Balleine, Rosemary, Arias Perez, Jose Ignacio, Pilar Zamora, M., Menéndez, Primitiva, Ashworth, Alan, Jones, Michael, Orr, Nick, Arveux, Patrick, Kerbrat, Pierre, Truong, Thérèse, Bugert, Peter, Toland, Amanda E., Ambrosone, Christine B., Labrèche, France, Goldberg, Mark S., Dumont, Martine, Ziogas, Argyrios, Lee, Eunjung, Dite, Gillian S., Apicella, Carmel, Southey, Melissa C., Long, Jirong, Shrubsole, Martha, Deming-Halverson, Sandra, Ficarazzi, Filomena, Barile, Monica, Peterlongo, Paolo, Durda, Katarzyna, Jaworska-Bieniek, Katarzyna, Tollenaar, Robert A.E.M., Seynaeve, Caroline, Brüning, Thomas, Ko, Yon-Dschun, Van Deurzen, Carolien H.M., Martens, John W.M., Kriege, Mieke, Figueroa, Jonine D., Chanock, Stephen J., Lissowska, Jolanta, Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Schneeweiss, Andreas, Tapper, William J., Gerty, Susan M., Durcan, Lorraine, Mclean, Catriona, Milne, Roger L., Baglietto, Laura, dos Santos Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, VanʼT Veer, Laura J., Cornelissen, Sten, Försti, Asta, Torres, Diana, Rüdiger, Thomas, Rudolph, Anja, Flesch-Janys, Dieter, Nickels, Stefan, Weltens, Caroline, Floris, Giuseppe, Moisse, Matthieu, Dennis, Joe, Wang, Qin, Dunning, Alison M., Shah, Mitul, Brown, Judith, Simard, Jacques, Anton-Culver, Hoda, Neuhausen, Susan L., Hopper, John L., Bogdanova, Natalia, Dörk, Thilo, Zheng, Wei, Radice, Paolo, Jakubowska, Anna, Lubinski, Jan, Devillee, Peter, Brauch, Hiltrud, Hooning, Maartje, García-Closas, Montserrat, Sawyer, Elinor, Burwinkel, Barbara, Marmee, Frederick, Eccles, Diana M., Giles, Graham G., Peto, Julian, Schmidt, Marjanka, Broeks, Annegien, Hamann, Ute, Chang-Claude, Jenny, Lambrechts, Diether, Pharoah, Paul D.P., Easton, Douglas, Pankratz, V. Shane, Slager, Susan, Vachon, Celine M., and Couch, Fergus J.
Published: 2014
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204. A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46 450 cases and 42 461 controls from the breast cancer association consortium

Author: Milne, Roger L., Herranz, Jesús, Michailidou, Kyriaki, Dennis, Joe, Tyrer, Jonathan P., Zamora, Pilar M., Arias-Perez, José Ignacio, González-Neira, Anna, Pita, Guillermo, Alonso, Rosario M., Wang, Qin, Bolla, Manjeet K., Czene, Kamila, Eriksson, Mikael, Humphreys, Keith, Darabi, Hatef, Li, Jingmei, Anton-Culver, Hoda, Neuhausen, Susan L., Ziogas, Argyrios, Clarke, Christina A., Hopper, John L., Dite, Gillian S., Apicella, Carmel, Southey, Melissa C., Chenevix-Trench, Georgia, Swerdlow, Anthony, Ashworth, Alan, Orr, Nicholas, Schoemaker, Minouk, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Bojesen, Stig E., Nordestgaard, Børge G., Flyger, Henrik, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Wang, Xianshu, Olson, Janet E., Vachon, Celine, Purrington, Kristen, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Dunning, Alison M., Shah, Mitul, Guénel, Pascal, Truong, Thérèse, Sanchez, Marie, Mulot, Claire, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Lindblom, Annika, Margolin, Sara, Hooning, Maartje J., Hollestelle, Antoinette, Collée, Margriet J., Jager, Agnes, Cox, Angela, Brock, Ian W., Reed, Malcolm W.R., Devilee, Peter, Tollenaar, Robert A.E.M., Seynaeve, Caroline, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Dumont, Martine, Soucy, Penny, Dörk, Thilo, Bogdanova, Natalia V., Hamann, Ute, Försti, Asta, Rüdiger, Thomas, Ulmer, Hans-Ulrich, Fasching, Peter A., Häberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Fletcher, Olivia, Johnson, Nichola, dos Santos Silva, Isabel, Peto, Julian, Radice, Paolo, Peterlongo, Paolo, Peissel, Bernard, Mariani, Paolo, Giles, Graham G., Severi, Gianluca, Baglietto, Laura, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Miller, Nicola, Marme, Federik, Burwinkel, Barbara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Lambrechts, Diether, Yesilyurt, Betul T., Floris, Giuseppe, Leunen, Karin, Alnæs, Grethe Grenaker, Kristensen, Vessela, Børresen-Dale, Anne-Lise, García-Closas, Montserrat, Chanock, Stephen J., Lissowska, Jolanta, Figueroa, Jonine D., Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Rutgers, Emiel J., Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Couch, Fergus J., Toland, Amanda E., Yannoukakos, Drakoulis, Pharoah, Paul D.P., Hall, Per, Benítez, Javier, Malats, Núria, and Easton, Douglas F.
Published: 2014
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205. No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study

Author: Rebbeck, Timothy R., Antoniou, Antonis C., Llopis, Trinidad Caldes, Nevanlinna, Heli, Aittomäki, Kristiina, Simard, Jacques, Spurdle, Amanda B., Couch, Fergus J., Pereira, Lutecia H. Mateus, Greene, Mark H., Andrulis, Irene L., Pasche, Boris, Kaklamani, Virginia, Hamann, Ute, Szabo, Csilla, Peock, Susan, Cook, Margaret, Harrington, Patricia A., Donaldson, Alan, Male, Allison M., Gardiner, Carol Anne, Gregory, Helen, Side, Lucy E., Robinson, Anne C., Emmerson, Louise, Ellis, Ian, Peyrat, Jean-Philippe, Fournier, Joëlle, Vennin, Philippe, Adenis, Claude, Muller, Danièle, Fricker, Jean-Pierre, Longy, Michel, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Schmutzler, Rita K., Versmold, Beatrix, Engel, Christoph, Meindl, Alfons, Kast, Karin, Schaefer, Dieter, Froster, Ursula G., Chenevix-Trench, Georgia, Easton, Douglas F., KConFab, Ontario Cancer Genetics Network, Breast Cancer Family Registry, EMBRACE, and GEMO
Published: 2009
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206. Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel

Author: Levi, Hagai, Carmi, Shai, Rosset, Saharon, Yerushalmi, Rinat, Zick, Aviad, Yablonski-Peretz, Tamar, Wang, Qin, Bolla, Manjeet K, Dennis, Joe, Michailidou, Kyriaki, Lush, Michael, Ahearn, Thomas, Andrulis, Irene L, Anton-Culver, Hoda, Antoniou, Antonis C, Arndt, Volker, Augustinsson, Annelie, Auvinen, Pa¨ivi, Beane Freeman, Laura, Beckmann, Matthias, Behrens, Sabine, Bermisheva, Marina, Bodelon, Clara, Bogdanova, Natalia V, Bojesen, Stig E, Brenner, Hermann, Byers, Helen, Camp, Nicola, Castelao, Jose, Chang-Claude, Jenny, Chirlaque, María-Dolores, Chung, Wendy, Clarke, Christine, Collee, Margriet J, Colonna, Sarah, Couch, Fergus, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary, Devilee, Peter, Dork, Thilo, Dossus, Laure, Eccles, Diana M, Eliassen, A. Heather, Eriksson, Mikael, Evans, Gareth, Fasching, Peter, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, Garcia-Saenz, Jose Angel, Genkinger, Jeanine, Giles, Graham G, Goldberg, Mark, Guénel, Pascal, Hall, Per, Hamann, Ute, He, Wei, Hillemanns, Peter, Hollestelle, Antoinette, Hoppe, Reiner, Hopper, John, Jakovchevska, Simona, Jakubowska, Anna, Jernstro¨m, Helena, John, Esther, Johnson, Nichola, Jones, Michael, Vijai, Joseph, Kaaks, Rudolf, Khusnutdinova, Elza, Kitahara, Cari, Koutros, Stella, Kristensen, Vessela, Kurian, Allison W, Lacey, James, Lambrechts, Diether, Le Marchand, Loic, Lejbkowicz, Flavio, Lindblom, Annika, Loibl, Sibylle, Lori, Adriana, Lubinski, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Mavroudis, Dimitrios, Menon, Usha, Mulligan, AnnaMarie, Murphy, Rachel, Nevelsteen, Ines, Newman, William G, Obi, Nadia, O'Brien, Katie, Offit, Ken, Olshan, Andrew, Plaseska-Karanfilska, Dijana, Olson, Janet, Panico, Salvatore, Park-Simon, Tjoung-Won, Patel, Alpa, Peterlongo, Paolo, Rack, Brigitte, Radice, Paolo, Rennert, Gad, Rhenius, Valerie, Romero, Atocha, Saloustros, Emmanouil, Sandler, Dale, Schmidt, Marjanka K, Schwentner, Lukas, Shah, Mitul, Sharma, Priyanka, Simard, Jacques, Southey, Melissa, Stone, Jennifer, Tapper, William J, Taylor, Jack, Teras, Lauren, Toland, Amanda E, Troester, Melissa, Truong, Thérèse, van der Kolk, Lizet E, Weinberg, Clarice, Wendt, Camilla, Yang, Xiaohong Rose, Zheng, Wei, Ziogas, Argyrios, Dunning, Alison M, Pharoah, Paul, Easton, Douglas F, Ben-Sachar, Shay, Elefant, Naama, Shamir, Ron, and Elkon, Ran
Abstract: BackgroundPolygenic risk score (PRS), calculated based on genome-wide association studies (GWASs), can improve breast cancer (BC) risk assessment. To date, most BC GWASs have been performed in individuals of European (EUR) ancestry, and the generalisation of EUR-based PRS to other populations is a major challenge. In this study, we examined the performance of EUR-based BC PRS models in Ashkenazi Jewish (AJ) women.MethodsWe generated PRSs based on data on EUR women from the Breast Cancer Association Consortium (BCAC). We tested the performance of the PRSs in a cohort of 2161 AJ women from Israel (1437 cases and 724 controls) from BCAC (BCAC cohort from Israel (BCAC-IL)). In addition, we tested the performance of these EUR-based BC PRSs, as well as the established 313-SNP EUR BC PRS, in an independent cohort of 181 AJ women from Hadassah Medical Center (HMC) in Israel.ResultsIn the BCAC-IL cohort, the highest OR per 1 SD was 1.56 (±0.09). The OR for AJ women at the top 10% of the PRS distribution compared with the middle quintile was 2.10 (±0.24). In the HMC cohort, the OR per 1 SD of the EUR-based PRS that performed best in the BCAC-IL cohort was 1.58±0.27. The OR per 1 SD of the commonly used 313-SNP BC PRS was 1.64 (±0.28).ConclusionsExtant EUR GWAS data can be used for generating PRSs that identify AJ women with markedly elevated risk of BC and therefore hold promise for improving BC risk assessment in AJ women.
Published: 2023
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207. Health Behaviors and Psychological Distress in Women Initiating BRCA1/2 Genetic Testing: Comparison with Control Population

Author: Dorval, Michel, Bouchard, Karine, Maunsell, Elizabeth, Plante, Marie, Chiquette, Jocelyne, Camden, Stéphanie, Dugas, Michel J., Simard, Jacques, and INHERIT BRCAs
Published: 2008
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208. A Collaborative Model to Implement Flexible, Accessible and Efficient Oncogenetic Services for Hereditary Breast and Ovarian Cancer: The C-MOnGene Study

Author: Lapointe, Julie, primary, Dorval, Michel, additional, Chiquette, Jocelyne, additional, Joly, Yann, additional, Guertin, Jason Robert, additional, Laberge, Maude, additional, Gekas, Jean, additional, Hébert, Johanne, additional, Pomey, Marie-Pascale, additional, Cruz-Marino, Tania, additional, Touhami, Omar, additional, Blanchet Saint-Pierre, Arnaud, additional, Gagnon, Sylvain, additional, Bouchard, Karine, additional, Rhéaume, Josée, additional, Boisvert, Karine, additional, Brousseau, Claire, additional, Castonguay, Lysanne, additional, Fortier, Sylvain, additional, Gosselin, Isabelle, additional, Lachapelle, Philippe, additional, Lavoie, Sabrina, additional, Poirier, Brigitte, additional, Renaud, Marie-Claude, additional, Ruizmangas, Maria-Gabriela, additional, Sebastianelli, Alexandra, additional, Roy, Stéphane, additional, Côté, Madeleine, additional, Racine, Marie-Michelle, additional, Roy, Marie-Claude, additional, Côté, Nathalie, additional, Brisson, Carmen, additional, Charette, Nelson, additional, Faucher, Valérie, additional, Leblanc, Josianne, additional, Dubeau, Marie-Ève, additional, Plante, Marie, additional, Desbiens, Christine, additional, Beaumont, Martin, additional, Simard, Jacques, additional, and Nabi, Hermann, additional
Published: 2021
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209. Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects

Author: Li, Na, primary, Zethoven, Magnus, additional, McInerny, Simone, additional, Devereux, Lisa, additional, Huang, Yu-Kuan, additional, Thio, Niko, additional, Cheasley, Dane, additional, Gutiérrez-Enríquez, Sara, additional, Moles-Fernández, Alejandro, additional, Diez, Orland, additional, Nguyen-Dumont, Tu, additional, Southey, Melissa C., additional, Hopper, John L., additional, Simard, Jacques, additional, Dumont, Martine, additional, Soucy, Penny, additional, Meindl, Alfons, additional, Schmutzler, Rita, additional, Schmidt, Marjanka K., additional, Adank, Muriel A., additional, Andrulis, Irene L., additional, Hahnen, Eric, additional, Engel, Christoph, additional, Lesueur, Fabienne, additional, Girard, Elodie, additional, Neuhausen, Susan L., additional, Ziv, Elad, additional, Allen, Jamie, additional, Easton, Douglas F., additional, Scott, Rodney J., additional, Gorringe, Kylie L., additional, James, Paul A., additional, and Campbell, Ian G., additional
Published: 2021
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210. PALB2 Variants: Protein Domains and Cancer Susceptibility

Author: Nepomuceno, Thales C., primary, Carvalho, Marcelo A., additional, Rodrigue, Amélie, additional, Simard, Jacques, additional, Masson, Jean-Yves, additional, and Monteiro, Alvaro N.A., additional
Published: 2021
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211. Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Author: Silvestri, Valentina, Leslie, Goska, Barnes, Daniel R, CIMBA Group, Agnarsson, Bjarni A, Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L, Barkardottir, Rosa B, Barroso, Alicia, Barrowdale, Daniel, Benitez, Javier, Bonanni, Bernardo, Borg, Ake, Buys, Saundra S, Caldés, Trinidad, Caligo, Maria A, Capalbo, Carlo, Campbell, Ian, Chung, Wendy K, Claes, Kathleen BM, Colonna, Sarah V, Cortesi, Laura, Couch, Fergus J, De La Hoya, Miguel, Diez, Orland, Ding, Yuan Chun, Domchek, Susan, Easton, Douglas F, Ejlertsen, Bent, Engel, Christoph, Evans, D Gareth, Feliubadalò, Lidia, Foretova, Lenka, Fostira, Florentia, Géczi, Lajos, Gerdes, Anne-Marie, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Hahnen, Eric, Hogervorst, Frans BL, Hopper, John L, Hulick, Peter J, Isaacs, Claudine, Izquierdo, Angel, James, Paul A, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M, Joseph, Vijai, Konstantopoulou, Irene, Kurian, Allison W, Kwong, Ava, Landucci, Elisabetta, Lesueur, Fabienne, Loud, Jennifer T, Machackova, Eva, Mai, Phuong L, Majidzadeh-A, Keivan, Manoukian, Siranoush, Montagna, Marco, Moserle, Lidia, Mulligan, Anna Marie, Nathanson, Katherine L, Nevanlinna, Heli, Ngeow, Joanne, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Osorio, Ana, Papi, Laura, Park, Sue K, Pedersen, Inge Sokilde, Perez-Segura, Pedro, Petersen, Annabeth H, Pinto, Pedro, Porfirio, Berardino, Pujana, Miquel Angel, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad U, Rosenzweig, Barak, Rossing, Maria, Santamariña, Marta, Schmutzler, Rita K, Senter, Leigha, Simard, Jacques, Singer, Christian F, Solano, Angela R, Southey, Melissa C, Steele, Linda, Steinsnyder, Zoe, Stoppa-Lyonnet, Dominique, Tan, Yen Yen, Teixeira, Manuel R, Teo, Soo H, Terry, Mary Beth, Thomassen, Mads, Toland, Amanda E, Torres-Esquius, Sara, Tung, Nadine, Van Asperen, Christi J, Vega, Ana, Viel, Alessandra, Vierstraete, Jeroen, Wappenschmidt, Barbara, Weitzel, Jeffrey N, Wieme, Greet, Yoon, Sook-Yee, Zorn, Kristin K, McGuffog, Lesley, Parsons, Michael T, Hamann, Ute, Greene, Mark H, Kirk, Judy A, Neuhausen, Susan L, Rebbeck, Timothy R, Tischkowitz, Marc, Chenevix-Trench, Georgia, Antoniou, Antonis C, Friedman, Eitan, Ottini, Laura, Leslie, Goska [0000-0001-5756-6222], Barnes, Daniel [0000-0002-3781-7570], Easton, Douglas [0000-0003-2444-3247], Tischkowitz, Marc [0000-0002-7880-0628], Antoniou, Antonis [0000-0001-9223-3116], and Apollo - University of Cambridge Repository
Subjects: Adult, Aged, 80 and over, BRCA2 Protein, Male, endocrine system diseases, Adolescent, BRCA1 Protein, Middle Aged, Young Adult, Phenotype, Neoplasms, Humans, skin and connective tissue diseases, Germ-Line Mutation, Aged, Retrospective Studies
Abstract: IMPORTANCE: The limited data on cancer phenotypes in men with germline BRCA1 and BRCA2 pathogenic variants (PVs) have hampered the development of evidence-based recommendations for early cancer detection and risk reduction in this population. OBJECTIVE: To compare the cancer spectrum and frequencies between male BRCA1 and BRCA2 PV carriers. DESIGN, SETTING, AND PARTICIPANTS: Retrospective cohort study of 6902 men, including 3651 BRCA1 and 3251 BRCA2 PV carriers, older than 18 years recruited from cancer genetics clinics from 1966 to 2017 by 53 study groups in 33 countries worldwide collaborating through the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Clinical data and pathologic characteristics were collected. MAIN OUTCOMES AND MEASURES: BRCA1/2 status was the outcome in a logistic regression, and cancer diagnoses were the independent predictors. All odds ratios (ORs) were adjusted for age, country of origin, and calendar year of the first interview. RESULTS: Among the 6902 men in the study (median [range] age, 51.6 [18-100] years), 1634 cancers were diagnosed in 1376 men (19.9%), the majority (922 of 1,376 [67%]) being BRCA2 PV carriers. Being affected by any cancer was associated with a higher probability of being a BRCA2, rather than a BRCA1, PV carrier (OR, 3.23; 95% CI, 2.81-3.70; P < .001), as well as developing 2 (OR, 7.97; 95% CI, 5.47-11.60; P < .001) and 3 (OR, 19.60; 95% CI, 4.64-82.89; P < .001) primary tumors. A higher frequency of breast (OR, 5.47; 95% CI, 4.06-7.37; P < .001) and prostate (OR, 1.39; 95% CI, 1.09-1.78; P = .008) cancers was associated with a higher probability of being a BRCA2 PV carrier. Among cancers other than breast and prostate, pancreatic cancer was associated with a higher probability (OR, 3.00; 95% CI, 1.55-5.81; P = .001) and colorectal cancer with a lower probability (OR, 0.47; 95% CI, 0.29-0.78; P = .003) of being a BRCA2 PV carrier. CONCLUSIONS AND RELEVANCE: Significant differences in the cancer spectrum were observed in male BRCA2, compared with BRCA1, PV carriers. These data may inform future recommendations for surveillance of BRCA1/2-associated cancers and guide future prospective studies for estimating cancer risks in men with BRCA1/2 PVs.
Published: 2020
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212. Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers

Author: Zhang, Yan Dora, Hurson, Amber N, Zhang, Haoyu, Choudhury, Parichoy Pal, Easton, Douglas F, Milne, Roger L, Simard, Jacques, Hall, Per, Michailidou, Kyriaki, Dennis, Joe, Schmidt, Marjanka K, Chang-Claude, Jenny, Gharahkhani, Puya, Whiteman, David, Campbell, Peter T, Hoffmeister, Michael, Jenkins, Mark, Peters, Ulrike, Hsu, Li, Gruber, Stephen B, Casey, Graham, Schmit, Stephanie L, O'Mara, Tracy A, Spurdle, Amanda B, Thompson, Deborah J, Tomlinson, Ian, De Vivo, Immaculata, Landi, Maria Teresa, Law, Matthew H, Iles, Mark M, Demenais, Florence, Kumar, Rajiv, MacGregor, Stuart, Bishop, D Timothy, Ward, Sarah V, Bondy, Melissa L, Houlston, Richard, Wiencke, John K, Melin, Beatrice, Barnholtz-Sloan, Jill, Kinnersley, Ben, Wrensch, Margaret R, Amos, Christopher I, Hung, Rayjean J, Brennan, Paul, McKay, James, Caporaso, Neil E, Berndt, Sonja I, Birmann, Brenda M, Camp, Nicola J, Kraft, Peter, Rothman, Nathaniel, Slager, Susan L, Berchuck, Andrew, Pharoah, Paul DP, Sellers, Thomas A, Gayther, Simon A, Pearce, Celeste L, Goode, Ellen L, Schildkraut, Joellen M, Moysich, Kirsten B, Amundadottir, Laufey T, Jacobs, Eric J, Klein, Alison P, Petersen, Gloria M, Risch, Harvey A, Stolzenberg-Solomon, Rachel Z, Wolpin, Brian M, Li, Donghui, Eeles, Rosalind A, Haiman, Christopher A, Kote-Jarai, Zsofia, Schumacher, Fredrick R, Al Olama, Ali Amin, Purdue, Mark P, Scelo, Ghislaine, Dalgaard, Marlene D, Greene, Mark H, Grotmol, Tom, Kanetsky, Peter A, McGlynn, Katherine A, Nathanson, Katherine L, Turnbull, Clare, Wiklund, Fredrik, Breast Cancer Association Consortium (BCAC), Barrett’s and Esophageal Adenocarcinoma Consortium (BEACON), Colon Cancer Family Registry (CCFR), Transdisciplinary Studies of Genetic Variation in Colorectal Cancer (CORECT), Endometrial Cancer Association Consortium (ECAC), Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO), Melanoma Genetics Consortium (GenoMEL), Glioma International Case-Control Study (GICC), International Lung Cancer Consortium (ILCCO), Integrative Analysis of Lung Cancer Etiology and Risk (INTEGRAL) Consortium, International Consortium of Investigators Working on Non-Hodgkin’s Lymphoma Epidemiologic Studies (InterLymph), Ovarian Cancer Association Consortium (OCAC), Oral Cancer GWAS, Pancreatic Cancer Case-Control Consortium (PanC4), Pancreatic Cancer Cohort Consortium (PanScan), and Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL)
Subjects: Male, Urologic Diseases, Multifactorial Inheritance, Ovarian Cancer Association Consortium, Risk Assessment, Transdisciplinary Studies of Genetic Variation in Colorectal Cancer, Genetic, Risk Factors, Models, Neoplasms, Genetics, Animals, Humans, 2.1 Biological and endogenous factors, Genetic Predisposition to Disease, Endometrial Cancer Association Consortium, Aetiology, Polymorphism, International Consortium of Investigators Working on Non-Hodgkin’s Lymphoma Epidemiologic Studies, Cancer, Renal Cancer GWAS, Incidence, Prevention, Prostate Cancer, International Lung Cancer Consortium, Human Genome, Melanoma Genetics Consortium, Single Nucleotide, Barrett’s and Esophageal Adenocarcinoma Consortium, Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome, Genetics and Epidemiology of Colorectal Cancer Consortium, Pancreatic Cancer Case-Control Consortium, Testicular Cancer Consortium, Breast Cancer Association Consortium, Oral Cancer GWAS, Female, Integrative Analysis of Lung Cancer Etiology and Risk (INTEGRAL) Consortium, Colon Cancer Family Registry, Glioma International Case-Control Study, Pancreatic Cancer Cohort Consortium, Genome-Wide Association Study
Abstract: Genome-wide association studies (GWAS) have led to the identification of hundreds of susceptibility loci across cancers, but the impact of further studies remains uncertain. Here we analyse summary-level data from GWAS of European ancestry across fourteen cancer sites to estimate the number of common susceptibility variants (polygenicity) and underlying effect-size distribution. All cancers show a high degree of polygenicity, involving at a minimum of thousands of loci. We project that sample sizes required to explain 80% of GWAS heritability vary from 60,000 cases for testicular to over 1,000,000 cases for lung cancer. The maximum relative risk achievable for subjects at the 99th risk percentile of underlying polygenic risk scores (PRS), compared to average risk, ranges from 12 for testicular to 2.5 for ovarian cancer. We show that PRS have potential for risk stratification for cancers of breast, colon and prostate, but less so for others because of modest heritability and lower incidence.
Published: 2020

213. Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

Author: Liu, Jingjing, Prager - van der Smissen, Wendy J. C., Collée, J. Margriet, Bolla, Manjeet K., Wang, Qin, Michailidou, Kyriaki, Dennis, Joe, Ahearn, Thomas U., Aittomäki, Kristiina, Ambrosone, Christine B., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Augustinsson, Annelie, Auvinen, Päivi, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Bermisheva, Marina, Bernstein, Leslie, Bogdanova, Natalia V., Bogdanova-Markov, Nadja, Bojesen, Stig E., Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Brucker, Sara Y., Brüning, Thomas, Burwinkel, Barbara, Cai, Qiuyin, Cai, Hui, Campa, Daniele, Canzian, Federico, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Choi, Ji-Yeob, Christiaens, Melissa, Clarke, Christine L., Couch, Fergus J., Czene, Kamila, Daly, Mary B., Devilee, Peter, dos-Santos-Silva, Isabel, Dwek, Miriam, Eccles, Diana M., Eliassen, A. Heather, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Fritschi, Lin, Gago-Dominguez, Manuela, Gapstur, Susan M., García-Closas, Montserrat, García-Sáenz, José A., Gaudet, Mia M., Giles, Graham G., Goldberg, Mark S., Goldgar, David E., Guénel, Pascal, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Harrington, Patricia A., Hart, Steven N., Hartman, Mikael, Hillemanns, Peter, Hopper, John L., Hou, Ming-Feng, Hunter, David J., Huo, Dezheng, Ito, Hidemi, Iwasaki, Motoki, Jakimovska, Milena, Jakubowska, Anna, John, Esther M., Kaaks, Rudolf, Kang, Daehee, Keeman, Renske, Khusnutdinova, Elza, Kim, Sung-Won, Kraft, Peter, Kristensen, Vessela N., Kurian, Allison W., Le Marchand, Loic, Li, Jingmei, Lindblom, Annika, Lophatananon, Artitaya, Luben, Robert N., Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Mariapun, Shivaani, Matsuo, Keitaro, Maurer, Tabea, Mavroudis, Dimitrios, Meindl, Alfons, Menon, Usha, Milne, Roger L., Muir, Kenneth, Mulligan, Anna Marie, Neuhausen, Susan L., Nevanlinna, Heli, Offit, Kenneth, Olopade, Olufunmilayo I., Olson, Janet E., Olsson, Håkan, Orr, Nick, Park, Sue K., Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Presneau, Nadege, Rack, Brigitte, Rau-Murthy, Rohini, Rennert, Gad, Rennert, Hedy S., Rhenius, Valerie, Romero, Atocha, Ruebner, Matthias, Saloustros, Emmanouil, Schmutzler, Rita K., Schneeweiss, Andreas, Scott, Christopher, Shah, Mitul, Shen, Chen-Yang, Shu, Xiao-Ou, Simard, Jacques, Sohn, Christof, Southey, Melissa C., Spinelli, John J., Tamimi, Rulla M., Tapper, William J., Teo, Soo H., Terry, Mary Beth, Torres, Diana, Truong, Thérèse, Untch, Michael, Vachon, Celine M., van Asperen, Christi J., Wolk, Alicja, Yamaji, Taiki, Zheng, Wei, Ziogas, Argyrios, Ziv, Elad, Torres-Mejía, Gabriela, Dörk, Thilo, Swerdlow, Anthony J., Hamann, Ute, Schmidt, Marjanka K., Dunning, Alison M., Pharoah, Paul D. P., Easton, Douglas F., Hooning, Maartje J., Martens, John W. M., Hollestelle, Antoinette, Sahlberg, Kristine K., Børresen-Dale, Anne-Lise, Ottestad, Lars, Kåresen, Rolf, Schlichting, Ellen, Holmen, Marit Muri, Sauer, Toril, Haakensen, Vilde, Engebråten, Olav, Naume, Bjørn, Fosså, Alexander, Kiserud, Cecile E., Reinertsen, Kristin V., Helland, Åslaug, Riis, Margit, Geisler, Jürgen, Alnæs, Grethe I. Grenaker, Bathen, Tone F., Borgen, Elin, Fritzman, Britt, Garred, Øystein, Geitvik, Gry Aarum, Hofvind, Solveig, Langerød, Anita, Lingjærde, Ole Christian, Mælandsmo, Gunhild Mari, Russnes, Hege G, Skjerven, Helle Kristine, Sørlie, Therese, Clarke, Christine, Marsh, Deborah, Scott, Rodney, Baxter, Robert, Yip, Desmond, Carpenter, Jane, Davis, Alison, Pathmanathan, Nirmala, Simpson, Peter, Graham, Dinny, Sachchithananthan, Mythily, and Apollo - University of Cambridge Repository
Subjects: 631/67, 631/208, article, skin and connective tissue diseases, 692/499, 692/4028
Abstract: In breast cancer, high levels of homeobox protein Hox-B13 (HOXB13) have been associated with disease progression of ER-positive breast cancer patients and resistance to tamoxifen treatment. Since HOXB13 p.G84E is a prostate cancer risk allele, we evaluated the association between HOXB13 germline mutations and breast cancer risk in a previous study consisting of 3,270 familial non-BRCA1/2 breast cancer cases and 2,327 controls from the Netherlands. Although both recurrent HOXB13 mutations p.G84E and p.R217C were not associated with breast cancer risk, the risk estimation for p.R217C was not very precise. To provide more conclusive evidence regarding the role of HOXB13 in breast cancer susceptibility, we here evaluated the association between HOXB13 mutations and increased breast cancer risk within 81 studies of the international Breast Cancer Association Consortium containing 68,521 invasive breast cancer patients and 54,865 controls. Both HOXB13 p.G84E and p.R217C did not associate with the development of breast cancer in European women, neither in the overall analysis (OR = 1.035, 95% CI = 0.859–1.246, P = 0.718 and OR = 0.798, 95% CI = 0.482–1.322, P = 0.381 respectively), nor in specific high-risk subgroups or breast cancer subtypes. Thus, although involved in breast cancer progression, HOXB13 is not a material breast cancer susceptibility gene.
Published: 2020

214. Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status

Author: Feng, Helian, Gusev, Alexander, Pasaniuc, Bogdan, Wu, Lang, Long, Jirong, Abu-Full, Zomoroda, Aittomäki, Kristiina, Andrulis, Irene L, Anton-Culver, Hoda, Antoniou, Antonis C, Arason, Adalgeir, Arndt, Volker, Aronson, Kristan J, Arun, Banu K, Asseryanis, Ella, Auer, Paul L, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barnes, Daniel R, Barrowdale, Daniel, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Białkowska, Katarzyna, Blanco, Ana, Blomqvist, Carl, Boeckx, Bram, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Broeks, Annegien, Brüning, Thomas, Burwinkel, Barbara, Cai, Qiuyin, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Canisius, Sander, Campa, Daniele, Carter, Brian D, Carter, Jonathan, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Christiansen, Hans, Chung, Wendy K, Claes, Kathleen BM, Clarke, Christine L, GEMO Study Collaborators, EMBRACE Collaborators, GC-HBOC study Collaborators, Couch, Fergus J, Cox, Angela, Cross, Simon S, Cybulski, Cezary, Czene, Kamila, Daly, Mary B, de la Hoya, Miguel, De Leeneer, Kim, Dennis, Joe, Devilee, Peter, Diez, Orland, Domchek, Susan M, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dunning, Alison M, Dwek, Miriam, Eccles, Diana M, Ejlertsen, Bent, Ellberg, Carolina, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A, Fletcher, Olivia, Flyger, Henrik, Fostira, Florentia, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, García-Closas, Montserrat, García-Sáenz, José A, Gaudet, Mia M, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Haiman, Christopher A, Hall, Per, Hamann, Ute, Hake, Christopher, He, Wei, Heyworth, Jane, Hogervorst, Frans BL, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Huang, Guanmengqian, Hulick, Peter J, Humphreys, Keith, Imyanitov, Evgeny N, ABCTB Investigators, HEBON Investigators, BCFR Investigators, OCGN Investigators, Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jankowitz, Rachel C, John, Esther M, Johnson, Nichola, Joseph, Vijai, Jung, Audrey, Karlan, Beth Y, Khusnutdinova, Elza, Kiiski, Johanna I, Konstantopoulou, Irene, Kristensen, Vessela N, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Leroux, Dominique, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Lindor, Noralane, Lindström, Sara, Lo, Wing-Yee, Loud, Jennifer T, Lubiński, Jan, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martens, John WM, Martinez, Maria E, Matricardi, Laura, Maurer, Tabea, Mavroudis, Dimitrios, McGuffog, Lesley, Meindl, Alfons, Menon, Usha, Michailidou, Kyriaki, Kapoor, Pooja M, Miller, Austin, Montagna, Marco, Moreno, Fernando, Moserle, Lidia, Mulligan, Anna M, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nevelsteen, Ines, Nielsen, Finn C, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olsson, Håkan, Osorio, Ana, Papp, Janos, Park-Simon, Tjoung-Won, Parsons, Michael T, Pedersen, Inge S, Peixoto, Ana, Peterlongo, Paolo, Peto, Julian, Pharoah, Paul DP, Phillips, Kelly-Anne, Plaseska-Karanfilska, Dijana, Poppe, Bruce, Pradhan, Nisha, Prajzendanc, Karolina, Presneau, Nadege, Punie, Kevin, Pylkäs, Katri, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad Usman, Rennert, Gad, Risch, Harvey A, Robson, Mark, Romero, Atocha, Saloustros, Emmanouil, Sandler, Dale P, Santos, Catarina, Sawyer, Elinor J, Schmidt, Marjanka K, Schmidt, Daniel F, Schmutzler, Rita K, Schoemaker, Minouk J, Scott, Rodney J, Sharma, Priyanka, Shu, Xiao-Ou, Simard, Jacques, Singer, Christian F, Skytte, Anne-Bine, Soucy, Penny, Southey, Melissa C, Spinelli, John J, Spurdle, Amanda B, Stone, Jennifer, Swerdlow, Anthony J, Tapper, William J, Taylor, Jack A, Teixeira, Manuel R, Terry, Mary Beth, Teulé, Alex, Thomassen, Mads, Thöne, Kathrin, Thull, Darcy L, Tischkowitz, Marc, Toland, Amanda E, Tollenaar, Rob AEM, Torres, Diana, Truong, Thérèse, Tung, Nadine, Vachon, Celine M, van Asperen, Christi J, van den Ouweland, Ans MW, van Rensburg, Elizabeth J, Vega, Ana, Viel, Alessandra, Vieiro-Balo, Paula, Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R, Weitzel, Jeffrey N, Wendt, Camilla, Winqvist, Robert, Yang, Xiaohong R, Yannoukakos, Drakoulis, Ziogas, Argyrios, Milne, Roger L, Easton, Douglas F, Chenevix-Trench, Georgia, Zheng, Wei, Kraft, Peter, Jiang, Xia, Læknadeild (HÍ), Faculty of Medicine (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland, Antoniou, Antonis [0000-0001-9223-3116], Barnes, Daniel [0000-0002-3781-7570], Dennis, Joe [0000-0003-4591-1214], Dunning, Alison [0000-0001-6651-7166], Leslie, Goska [0000-0001-5756-6222], Pharoah, Paul [0000-0001-8494-732X], Tischkowitz, Marc [0000-0002-7880-0628], Easton, Douglas [0000-0003-2444-3247], Apollo - University of Cambridge Repository, Medical Oncology, Clinical Genetics, Medicum, Research Programs Unit, Genome-Scale Biology (GSB) Research Program, HUSLAB, Department of Medical and Clinical Genetics, Helsinki University Hospital Area, University of Helsinki, HUS Comprehensive Cancer Center, Department of Oncology, Clinicum, INDIVIDRUG - Individualized Drug Therapy, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Biosciences, Institut Català de la Salut, [Feng H] Program in Genetic Epidemiology and Statistical Genetics, Harvard T. H. Chan School of Public Health, Boston, Massachusetts. Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, Massachusetts. Department of Biostatistics, Harvard T. H. Chan School of Public Health, Boston, Massachusetts. [Gusev A] Dana‐Farber Cancer Institute, Boston, Massachusetts. [Pasaniuc B] UCLA Path & Lab Med, Los Angeles, California. [Wu L] Epidemiology Program, University of Hawaii Cancer Center, Honolulu, Hawaii. [Long J] Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt‐Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee. [Abu-full Z] Clalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel. [Balmaña J] High Risk and Cancer Prevention Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. [Diez O] Hereditary Cancer Genetics Group, Area of Clinical and Molecular Genetics, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Vall d'Hebron Hospital Universitari, Barcelona, Spain, and Vall d'Hebron Barcelona Hospital Campus
Subjects: Oncology, Epidemiology, Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES], Genetic Phenomena::Genotype::Genetic Predisposition to Disease [PHENOMENA AND PROCESSES], Vesicular Transport Proteins, Estrogen receptor, Genome-wide association study, VARIANTS, Transcriptome, Breast cancer, Brjóstakrabbamein, Receptors, Medicine and Health Sciences, GWAS, skin and connective tissue diseases, Estrogen Receptor Status, Genetics (clinical), Genetics & Heredity, neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES], 0303 health sciences, Gen, 030305 genetics & heredity, 1184 Genetics, developmental biology, physiology, Causal gene, Genomics, CARRIERS, STATISTICS, 3. Good health, Receptors, Estrogen, breast cancer subtype, causal gene, TWAS, Breast Neoplasms, Estrogens, Female, Genetic Predisposition to Disease, Humans, Risk Assessment, Genome-Wide Association Study, Medical genetics, Breast Cancer Genetics, Erfðarannsóknir, Life Sciences & Biomedicine, EXPRESSION, medicine.medical_specialty, SUSCEPTIBILITY LOCI, 3122 Cancers, Estrògens, Biology, Article, Càncer de mama, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Internal medicine, Krabbameinsrannsóknir, medicine, fenómenos genéticos::genotipo::predisposición genética a la enfermedad [FENÓMENOS Y PROCESOS], 030304 developmental biology, Genetic association, Science & Technology, IDENTIFICATION, medicine.disease, Estrogen, TISSUE, Breast cancer subtype, Mama - Càncer - Aspectes genètics, Mathematical & Computational Biology
Abstract: Publisher's version (útgefin grein), Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER−). We further compared associations with ER+ and ER− subtypes, using a case-only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER– breast cancer. We further identified 30 TWAS-significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast-cancer gene in three of six regions harboring multiple TWAS-significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER− breast cancer., The authors thank the Cellex Foundation for providing research facilities and equipment. The breast cancer genome‐wide association (BCAC) is funded by Cancer Research UK (C1287/A16563, C1287/A10118), the European Union's Horizon 2020 Research and Innovation Programme (grant nos. 634935 and 633784 for BRIDGES and B‐CAST, respectively), and by the European Community's Seventh Framework Programme under grant agreement number 223175 (grant no. HEALTH‐F2‐2009‐223175) (COGS). The EU Horizon 2020 Research and Innovation Programme funding source had no role in study design, data collection, data analysis, data interpretation or writing of the report. Genotyping of the OncoArray was funded by the NIH grant U19 CA148065, and Cancer UK grant C1287/A16563 and the PERSPECTIVE project supported by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research (grant GPH‐129344), and the Ministère de l’Économie, Science et Innovation du Québec through Genome Québec and the PSRSIIRI‐701 grant, and the Quebec Breast Cancer Foundation. Funding for the iCOGS infrastructure came from: the European Community's Seventh Framework Programme under grant agreement no. 223175 (HEALTH‐F2‐2009‐223175; COGS), Cancer Research UK (C1287/A10118, C1287/A10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, and C8197/A16565), the National Institutes of Health (CA128978) and Post‐Cancer GWAS initiative (1U19 CA148537, 1U19 CA148065, and 1U19 CA148112—the GAME‐ON initiative), the Department of Defence (W81XWH‐10‐1‐0341), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer, and Komen Foundation for the Cure, the Breast Cancer Research Foundation, and the Ovarian Cancer Research Fund. The DRIVE Consortium was funded by U19 CA148065. The Australian Breast Cancer Family Study (ABCFS) was supported by grant UM1 CA164920 from the National Cancer Institute (USA). The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the USA Government or the BCFR. The ABCFS was also supported by the National Health and Medical Research Council of Australia, the New South Wales Cancer Council, the Victorian Health Promotion Foundation (Australia) and the Victorian Breast Cancer Research Consortium. J. L. H. is a National Health and Medical Research Council (NHMRC) Senior Principal Research Fellow. M. C. S. is an NHMRC Senior Research Fellow. The ABCS study was supported by the Dutch Cancer Society (grants NKI 2007‐3839; 2009 4363). The Australian Breast Cancer Tissue Bank (ABCTB) is generously supported by the National Health and Medical Research Council of Australia, The Cancer Institute NSW and the National Breast Cancer Foundation. The ACP study is funded by the Breast Cancer Research Trust, UK. The AHS study is supported by the intramural research program of the National Institutes of Health, the National Cancer Institute (grant no. Z01‐CP010119), and the National Institute of Environmental Health Sciences (grant no. Z01‐ES049030). The work of the BBCC was partly funded by ELAN‐Fond of the University Hospital of Erlangen. The BBCS is funded by Cancer Research UK and Breast Cancer Now and acknowledges NHS funding to the NIHR Biomedical Research Centre, and the National Cancer Research Network (NCRN). The BCEES was funded by the National Health and Medical Research Council, Australia and the Cancer Council Western Australia and acknowledges funding from the National Breast Cancer Foundation (JS). For the BCFR‐NY, BCFR‐PA, BCFR‐UT this work was supported by grant UM1 CA164920 from the National Cancer Institute. The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government or the BCFR. For BIGGS, E. S. is supported by NIHR Comprehensive Biomedical Research Centre, Guy's and St. Thomas' NHS Foundation Trust in partnership with King's College London, United Kingdom. I. T. is supported by the Oxford Biomedical Research Centre. B. O. C. S. is supported by funds from Cancer Research UK (C8620/A8372/A15106) and the Institute of Cancer Research (UK). B. O. C. S. acknowledges NHS funding to the Royal Marsden/Institute of Cancer Research NIHR Specialist Cancer Biomedical Research Centre. The BREast Oncology GAlician Network (BREOGAN) is funded by Acción Estratégica de Salud del Instituto de Salud Carlos III FIS PI12/02125/Cofinanciado FEDER; Acción Estratégica de Salud del Instituto de Salud Carlos III FIS Intrasalud (PI13/01136); Programa Grupos Emergentes, Cancer Genetics Unit, Instituto de Investigacion Biomedica Galicia Sur. Xerencia de Xestion Integrada de Vigo‐SERGAS, Instituto de Salud Carlos III, Spain; Grant 10CSA012E, Consellería de Industria Programa Sectorial de Investigación Aplicada, PEME I + D e I + D Suma del Plan Gallego de Investigación, Desarrollo e Innovación Tecnológica de la Consellería de Industria de la Xunta de Galicia, Spain (grant EC11‐192). Fomento de la Investigación Clínica Independiente, Ministerio de Sanidad, Servicios Sociales e Igualdad, Spain; and Grant FEDER‐Innterconecta. Ministerio de Economia y Competitividad, Xunta de Galicia, Spain. The BSUCH study was supported by the Dietmar‐Hopp Foundation, the Helmholtz Society and the German Cancer Research Center (DKFZ). The CAMA study was funded by Consejo Nacional de Ciencia y Tecnología (CONACyT; SALUD‐2002‐C01‐7462). Sample collection and processing were funded in part by grants from the National Cancer Institute (NCI R01CA120120 and K24CA169004). C. B. C. S. is funded by the Canadian Cancer Society (grant no. 313404) and the Canadian Institutes of Health Research. C. C. G. P. is supported by funding from the University of Crete. The CECILE study was supported by Fondation de France, Institut National du Cancer (INCa), Ligue Nationale Contre le Cancer, Agence Nationale de Sécurité Sanitaire, de l'Alimentation, de l'Environnement et du Travail (ANSES), Agence Nationale de la Recherche (ANR). The CGPS was supported by the Chief Physician Johan Boserup and Lise Boserup Fund, the Danish Medical Research Council, and Herlev and Gentofte Hospital. The CNIO‐BCS was supported by the Instituto de Salud Carlos III, the Red Temática de Investigación Cooperativa en Cáncer and grants from the Asociación Española Contra el Cáncer and the Fondo de Investigación Sanitario (PI11/00923 and PI12/00070). COLBCCC is supported by the German Cancer Research Center (DKFZ), Heidelberg, Germany. Diana Torres was in part supported by a postdoctoral fellowship from the Alexander von Humboldt Foundation. The American Cancer Society funds the creation, maintenance, and updating of the CPS‐II cohort. The CTS was initially supported by the California Breast Cancer Act of 1993 and the California Breast Cancer Research Fund (contract 97‐10500) and is currently funded through the National Institutes of Health (R01 CA77398, UM1 CA164917, and U01 CA199277). The collection of cancer incidence data was supported by the California Department of Public Health as part of the statewide cancer reporting program mandated by California Health and Safety Code Section 103885. HAC receives support from the Lon V Smith Foundation (LVS39420). The University of Westminster curates the DietCompLyf database funded by Against Breast Cancer Registered Charity No. 1121258 and the NCRN. The coordination of EPIC is financially supported by the European Commission (DG‐SANCO) and the International Agency for Research on Cancer. The national cohorts are supported by Ligue Contre le Cancer, Institut Gustave Roussy, Mutuelle Générale de l'Education Nationale, Institut National de la Santé et de la Recherche Médicale (INSERM) (France); German Cancer Aid, German Cancer Research Center (DKFZ), Federal Ministry of Education and Research (BMBF) (Germany); the Hellenic Health Foundation, the Stavros Niarchos Foundation (Greece); Associazione Italiana per la Ricerca sul Cancro‐AIRC‐Italy and National Research Council (Italy); Dutch Ministry of Public Health, Welfare and Sports (VWS), Netherlands Cancer Registry (NKR), LK Research Funds, Dutch Prevention Funds, Dutch ZON (Zorg Onderzoek Nederland), World Cancer Research Fund (WCRF), Statistics Netherlands (The Netherlands); Health Research Fund (FIS), PI13/00061 to Granada, PI13/01162 to EPIC‐Murcia, Regional Governments of Andalucía, Asturias, Basque Country, Murcia and Navarra, ISCIII RETIC (RD06/0020) (Spain); Cancer Research UK (14136 to EPIC‐Norfolk; C570/A16491 and C8221/A19170 to EPIC‐Oxford), Medical Research Council (1000143 to EPIC‐Norfolk, MR/M012190/1 to EPIC‐Oxford) (United Kingdom). The ESTHER study was supported by a grant from the Baden Württemberg Ministry of Science, Research and Arts. Additional cases were recruited in the context of the VERDI study, which was supported by a grant from the German Cancer Aid (Deutsche Krebshilfe). FHRISK is funded from NIHR grant PGfAR 0707‐10031. The GC‐HBOC (German Consortium of Hereditary Breast and Ovarian Cancer) is supported by the German Cancer Aid (grant no 110837, coordinator: Rita K. Schmutzler, Cologne). This work was also funded by the European Regional Development Fund and Free State of Saxony, Germany (LIFE—Leipzig Research Centre for Civilization Diseases, project numbers 713‐241202, 713‐241202, 14505/2470, 14575/2470). The GENICA was funded by the Federal Ministry of Education and Research (BMBF) Germany grants 01KW9975/5, 01KW9976/8, 01KW9977/0 and 01KW0114, the Robert Bosch Foundation, Stuttgart, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, the Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum (IPA), Bochum, as well as the Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus, Bonn, Germany. The GEPARSIXTO study was conducted by the German Breast Group GmbH. The GESBC was supported by the Deutsche Krebshilfe e. V. (70492) and the German Cancer Research Center (DKFZ). GLACIER was supported by Breast Cancer Now, CRUK and Biomedical Research Centre at Guy's and St Thomas’ NHS Foundation Trust and King's College London. The HABCS study was supported by the Claudia von Schilling Foundation for Breast Cancer Research, by the Lower Saxonian Cancer Society, and by the Rudolf Bartling Foundation. The HEBCS was financially supported by the Helsinki University Hospital Research Fund, the Finnish Cancer Society, and the Sigrid Juselius Foundation. The HERPACC was supported by MEXT Kakenhi (No. 170150181 and 26253041) from the Ministry of Education, Science, Sports, Culture and Technology of Japan, by a Grant‐in‐Aid for the Third Term Comprehensive 10‐Year Strategy for Cancer Control from Ministry Health, Labour and Welfare of Japan, by Health and Labour Sciences Research Grants for Research on Applying Health Technology from Ministry Health, Labour and Welfare of Japan, by National Cancer Center Research and Development Fund, and “Practical Research for Innovative Cancer Control (15ck0106177h0001)” from Japan Agency for Medical Research and development, AMED, and Cancer Bio Bank Aichi. The HMBCS was supported by a grant from the Friends of Hannover Medical School and by the Rudolf Bartling Foundation. The HUBCS was supported by a grant from the German Federal Ministry of Research and Education (RUS08/017) and by the Russian Foundation for Basic Research and the Federal Agency for Scientific Organizations for supporting the Bioresource collections and RFBR grants 14‐04‐97088, 17‐29‐06014, and 17‐44‐020498. ICICLE was supported by Breast Cancer Now, CRUK and Biomedical Research Centre at Guy's and St Thomas’ NHS Foundation Trust and King's College London. Financial support for KARBAC was provided through the regional agreement on medical training and clinical research (ALF) between Stockholm County Council and Karolinska Institutet, the Swedish Cancer Society, The Gustav V Jubilee foundation and Bert von Kantzows foundation. The KARMA study was supported by Märit and Hans Rausings Initiative Against Breast Cancer. The KBCP was financially supported by the special Government Funding (EVO) of Kuopio University Hospital grants, Cancer Fund of North Savo, the Finnish Cancer Organizations, and the strategic funding of the University of Eastern Finland. The kConFab Follow‐Up Study is supported by grants from Cancer Australia, the Australian National Breast Cancer Foundation, the National Health and Medical Research Council, the National Institute of Health USA, the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. KAP is an Australian National Breast Cancer Foundation Practitioner Fellow. Financial support for the AOCS was provided by the United States Army Medical Research and Materiel Command (DAMD17‐01‐1‐0729), Cancer Council Victoria, Queensland Cancer Fund, Cancer Council New South Wales, Cancer Council South Australia, The Cancer Foundation of Western Australia, Cancer Council Tasmania and the National Health and Medical Research Council of Australia (NHMRC; 400413, 400281, and 199600). G. C. T. and P. W. are supported by the NHMRC. R. B. was a Cancer Institute NSW Clinical Research Fellow. The KOHBRA study was partially supported by a grant from the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), and the National R&D Program for Cancer Control, Ministry of Health & Welfare, Republic of Korea (HI16C1127; 1020350; 1420190). L. A. A. B. C. is supported by grants (1RB‐0287, 3PB‐0102, 5PB‐0018, and 10PB‐0098) from the California Breast Cancer Research Program. Incident breast cancer cases were collected by the USC Cancer Surveillance Program (CSP) which is supported under subcontract by the California Department of Health. The CSP is also part of the National Cancer Institute's Division of Cancer Prevention and Control Surveillance, Epidemiology, and End Results Program, under contract number N01CN25403. L. M. B. C. is supported by the “Stichting tegen Kanker.” D. L. is supported by the FWO. The MABCS study is funded by the Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov” and supported by the German Academic Exchange Program, DAAD. The MARIE study was supported by the Deutsche Krebshilfe e.V. (70‐2892‐BR I, 106332, 108253, 108419, 110826, 110828), the Hamburg Cancer Society, the German Cancer Research Center (DKFZ) and the Federal Ministry of Education and Research (BMBF) Germany (01KH0402). MBCSG is supported by grants from the Italian Association for Cancer Research (AIRC) and by funds from the Italian citizens who allocated the 5/1,000 share of their tax payment in support of the Fondazione IRCCS Istituto Nazionale Tumori, according to Italian laws (INT‐Institutional strategic projects “5 × 1,000”). The MCBCS was supported by the NIH grants CA192393, CA116167, CA176785, and NIH Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), and the Breast Cancer Research Foundation and a generous gift from the David F. and Margaret T. Grohne Family Foundation. The Melbourne Collaborative Cohort Study (MCCS) cohort recruitment was funded by VicHealth and Cancer Council Victoria. The MCCS was further augmented by Australian National Health and Medical Research Council grants 209057, 396414, and 1074383 and by infrastructure provided by Cancer Council Victoria. Cases and their vital status were ascertained through the Victorian Cancer Registry and the Australian Institute of Health and Welfare, including the National Death Index and the Australian Cancer Database.” The MEC was supported by NIH grants CA63464, CA54281, CA098758, CA132839, and CA164973. The MISS study is supported by funding from ERC‐2011‐294576 Advanced grant, Swedish Cancer Society, Swedish Research Council, Local hospital funds, Berta Kamprad Foundation, Gunnar Nilsson. The MMHS study was supported by NIH grants CA97396, CA128931, CA116201, CA140286, and CA177150. M. S. K. C. C. is supported by grants from the Breast Cancer Research Foundation and Robert and Kate Niehaus Clinical Cancer Genetics Initiative. The work of MTLGEBCS was supported by the Quebec Breast Cancer Foundation, the Canadian Institutes of Health Research for the “CIHR Team in Familial Risks of Breast Cancer” program—grant no. CRN‐87521 and the Ministry of Economic Development, Innovation and Export Trade—grant no. PSR‐SIIRI‐701. MYBRCA is funded by research grants from the Malaysian Ministry of Higher Education (UM.C/HlR/MOHE/06) and Cancer Research Malaysia. MYMAMMO is supported by research grants from Yayasan Sime Darby LPGA Tournament and Malaysian Ministry of Higher Education (RP046B‐15HTM). The NBCS has been supported by the Research Council of Norway grant 193387/V50 (to A.‐L. B.‐D. and V. N. K.) and grant 193387/H10 (to A.‐L. B.‐D. and V. N. K.), South‐Eastern Norway Health Authority (grant 39346 to A.‐L.B‐D. and 27208 to V. N. K.) and the Norwegian Cancer Society (to A.‐L. B.‐D. and 419616‐71248‐PR‐2006‐0282 to V. N. K.). It has received funding from the K.G. Jebsen Centre for Breast Cancer Research (2012‐2015). The NBHS was supported by NIH grant R01CA100374. Biological sample preparation was conducted the Survey and Biospecimen Shared Resource, which is supported by P30 CA68485. The Northern California Breast Cancer Family Registry (NC‐BCFR) and Ontario Familial Breast Cancer Registry (OFBCR) were supported by grant UM1 CA164920 from the National Cancer Institute (USA). The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the USA Government or the BCFR. The Carolina Breast Cancer Study was funded by Komen Foundation, the National Cancer Institute (P50 CA058223, U54 CA156733, and U01 CA179715), and the North Carolina University Cancer Research Fund. The NGOBCS was supported by Grants‐in‐Aid for the Third Term Comprehensive Ten‐Year Strategy for Cancer Control from the Ministry of Health, Labor and Welfare of Japan, and for Scientific Research on Priority Areas, 17015049 and for Scientific Research on Innovative Areas, 221S0001, from the Ministry of Education, Culture, Sports, Science, and Technology of Japan. The NHS was supported by NIH grants P01 CA87969, UM1 CA186107, and U19 CA148065. The NHS2 was supported by NIH grants UM1 CA176726 and U19 CA148065. The OBCS was supported by research grants from the Finnish Cancer Foundation, the Academy of Finland (grant no. 250083, 122715 and Center of Excellence grant no. 251314), the Finnish Cancer Foundation, the Sigrid Juselius Foundation, the University of Oulu, the University of Oulu Support Foundation and the special Governmental EVO funds for Oulu University Hospital‐based research activities. The ORIGO study was supported by the Dutch Cancer Society (RUL 1997‐1505) and the Biobanking and Biomolecular Resources Research Infrastructure (BBMRI‐NL CP16). The PBCS was funded by Intramural Research Funds of the National Cancer Institute, Department of Health and Human Services, USA. Genotyping for PLCO was supported by the Intramural Research Program of the National Institutes of Health, NCI, Division of Cancer Epidemiology and Genetics. The PLCO is supported by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics and supported by contracts from the Division of Cancer Prevention, National Cancer Institute, National Institutes of Health. The POSH study is funded by Cancer Research UK (grants C1275/A11699, C1275/C22524, C1275/A19187, C1275/A15956, and Breast Cancer Campaign 2010PR62, 2013PR044. PROCAS is funded from NIHR grant PGfAR 0707‐10031. The RBCS was funded by the Dutch Cancer Society (DDHK 2004‐3124, DDHK 2009‐4318). The SASBAC study was supported by funding from the Agency for Science, Technology, and Research of Singapore (A*STAR), the US National Institute of Health (NIH) and the Susan G. Komen Breast Cancer Foundation. The SBCGS was supported primarily by NIH grants R01CA64277, R01CA148667, UMCA182910, and R37CA70867. Biological sample preparation was conducted the Survey and Biospecimen Shared Resource, which is supported by P30 CA68485. The scientific development and funding of this project were, in part, supported by the Genetic Associations and Mechanisms in Oncology (GAME‐ON) Network U19 CA148065. The SBCS was supported by Sheffield Experimental Cancer Medicine Centre and Breast Cancer Now Tissue Bank. The SCCS is supported by a grant from the National Institutes of Health (R01 CA092447). Data on SCCS cancer cases used in this publication were provided by the Alabama Statewide Cancer Registry; Kentucky Cancer Registry, Lexington, KY; Tennessee Department of Health, Office of Cancer Surveillance; Florida Cancer Data System; North Carolina Central Cancer Registry, North Carolina Division of Public Health; Georgia Comprehensive Cancer Registry; Louisiana Tumor Registry; Mississippi Cancer Registry; South Carolina Central Cancer Registry; Virginia Department of Health, Virginia Cancer Registry; Arkansas Department of Health, Cancer Registry, 4815 W. Markham, Little Rock, AR 72205. The Arkansas Central Cancer Registry is fully funded by a grant from the National Program of Cancer Registries, Centers for Disease Control and Prevention (CDC). Data on SCCS cancer cases from Mississippi were collected by the Mississippi Cancer Registry which participates in the National Program of Cancer Registries (NPCR) of the Centers for Disease Control and Prevention (CDC). The contents of this publication are solely the responsibility of the authors and do not necessarily represent the official views of the CDC or the Mississippi Cancer Registry. SEARCH is funded by Cancer Research UK (C490/A10124 and C490/A16561) and supported by the UK National Institute for Health Research Biomedical Research Centre at the University of Cambridge. The University of Cambridge has received salary support for PDPP from the NHS in the East of England through the Clinical Academic Reserve. SEBCS was supported by the BRL (Basic Research Laboratory) program through the National Research Foundation of Korea funded by the Ministry of Education, Science and Technology (2012‐0000347). SGBCC is funded by the NUS start‐up Grant, National University Cancer Institute Singapore (NCIS) Centre Grant and the NMRC Clinician Scientist Award. Additional controls were recruited by the Singapore Consortium of Cohort Studies‐Multi‐ethnic cohort (SCCS‐MEC), which was funded by the Biomedical Research Council, grant no. 05/1/21/19/425. The Sister Study (SISTER) is supported by the Intramural Research Program of the NIH, National Institute of Environmental Health Sciences (Z01‐ES044005 and Z01‐ES049033). The Two Sister Study (2SISTER) was supported by the Intramural Research Program of the NIH, National Institute of Environmental Health Sciences (Z01‐ES044005 and Z01‐ES102245), and, also by a grant from Susan G. Komen for the Cure, grant FAS0703856. SKKDKFZS is supported by the DKFZ. The SMC is funded by the Swedish Cancer Foundation. The SZBCS and IHCC were supported by Grant PBZ_KBN_122/P05/2004 and the program of the Minister of Science and Higher Education under the name “Regional Initiative of Excellence” in 2019–2022 project number 002/RID/2018/19 amount of financing 12,000,000 PLN. The TBCS was funded by The National Cancer Institute of Thailand. The TNBCC was supported by a Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), a grant from the Breast Cancer Research Foundation, a generous gift from the David F. and Margaret T. Grohne Family Foundation. The TWBCS is supported by the Taiwan Biobank project of the Institute of Biomedical Sciences, Academia Sinica, Taiwan. The UCIBCS component of this research was supported by the NIH (CA58860 and CA92044) and the Lon V Smith Foundation (LVS39420). The UKBGS is funded by Breast Cancer Now and the Institute of Cancer Research (ICR), London and also thank the study participants, study staff, and the doctors, nurses and other health care providers and health information sources who have contributed to the study. ICR acknowledges NHS funding to the NIHR Biomedical Research Centre. The UKOPS study was funded by The Eve Appeal (The Oak Foundation) and supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre. The US3SS study was supported by Massachusetts (K. M. E., R01CA47305), Wisconsin (P. A. N., R01 CA47147), and New Hampshire (L. T.‐E., R01CA69664) centers, and Intramural Research Funds of the National Cancer Institute, Department of Health and Human Services, USA. The USRT Study was funded by Intramural Research Funds of the National Cancer Institute, Department of Health and Human Services, USA. The WAABCS study was supported by grants from the National Cancer Institute of the National Institutes of Health (R01 CA89085 and P50 CA125183 and the D43 TW009112 grant), Susan G. Komen (SAC110026), Dr. Ralph and Marian Falk Medical Research Trust, and the Avon Foundation for Women. The WHI program is funded by the National Heart, Lung, and Blood Institute, the US National Institutes of Health and the US Department of Health and Human Services (HHSN268201100046C, HHSN268201100001C, HHSN268201100002C, HHSN268201100003C, HHSN268201100004C, and HHSN271201100004C). This work was also funded by NCI U19 CA148065‐01. D. G. E. is supported by the all Manchester NIHR Biomedical research center Manchester (IS‐BRC‐1215‐20007). HUNBOCS, Hungarian Breast, and Ovarian Cancer Study were supported by Hungarian Research Grant KTIA‐OTKA CK‐80745, NKFI_OTKA K‐112228. C. I. received support from the Survey, Recruitment, and Biospecimen Shared Resource at Georgetown University (NIH/NCI P30‐CA‐51008) and the Jess and Mildred Fisher Center for Hereditary Cancer and Clinical Genomics Research. K. M. is supported by CRUK C18281/A19169. City of Hope Clinical Cancer Community Research Network and the Hereditary Cancer Research Registry, supported in part by Award Number RC4CA153828 (PI: J Weitzel) from the National Cancer Institute and the office of the Director, National Institutes of Health. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The ICO study is supported by the Asociación Española Contra el Cáncer (AECC), The Instituto de Salud Carlos III (organismo adscrito al Ministerio de Economía y Competitividad) and “Fondo Europeo de Desarrollo Regional (FEDER), una manera de hacer Europa” (PI10/01422, PI13/00285, PIE13/00022, PI15/00854, PI16/00563, and CIBERONC) and The Institut Català de la Salut and Autonomous Government of Catalonia (2009SGR290, 2014SGR338 and PERIS Project MedPerCan). Dr. Beth Karlan is funded by the American Cancer Society Early Detection Professorship (SIOP‐06‐258‐01‐COUN) and the National Center for Advancing Translational Sciences (NCATS), grant UL1TR000124. A.V. is supported by the Spanish Health Research Foundation, Instituto de Salud Carlos III (ISCIII), partially supported by FEDER funds through Research Activity Intensification Program (contract grant nos. INT15/00070, INT16/00154, INT17/00133), and through Centro de Investigación Biomédica en Red de Enferemdades Raras CIBERER (ACCI 2016: ER17P1AC7112/2018); Autonomous Government of Galicia (Consolidation and structuring program: IN607B), and by the Fundación Mutua Madrileña (call 2018). The GEMO resource was initially funded by the French National Institute of Cancer (INCa, PHRC Ile de France, grant AOR 01 082, 2001–2003, grant 2013‐1‐BCB‐01‐ICH‐1), the Association “Le cancer du sein, parlons‐en!” Award (2004) the Association for International Cancer Research (2008–2010), and the Fondation ARC pour la recherche sur le cancer (grant PJA 20151203365). It also received support from the Canadian Institute of Health Research for the “CIHR Team in Familial Risks of Breast Cancer” program (2008–2013), and the European commission FP7, Project «Collaborative Ovarian, breast and prostate Gene‐environment Study (COGS), Large‐scale integrating project» (2009–2013). G. E. M. O. is currently supported by the INCa grant SHS‐E‐SP 18‐015. OSUCCC was funded by the Ohio State University Comprehensive Cancer Center. Leigha Senter, Kevin Sweet, Caroline Craven, Julia Cooper, Amber Aielts, and Michelle O'Conor aided in the recruitment of BRCA1/2 study participants and data collection. Robert Pilarski aided in recruitment and data collection of TNBC cases from the Stefanie Spielman Breast Bank. Clinical Genetics Branch, NCI: the Intramural Research Program of the US National Cancer Institute, NIH, Division of Cancer Epidemiology and Genetics, and by support services contracts NO2‐CP‐11019‐50, N02‐CP‐21013‐63 and N02‐CP‐65504 with Westat, Inc, Rockville, MD. ILUH was funded by the Icelandic Association “Walking for Breast Cancer Research” and by the Landspitali University Hospital Research Fund. The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON) consists of the following Collaborating Centers: Netherlands Cancer Institute (coordinating center), Amsterdam, NL: M.A. Rookus, F.B.L. Hogervorst, F.E. van Leeuwen, M.A. Adank, M.K. Schmidt, D.J. Jenner; Erasmus Medical Center, Rotterdam, NL: J.M. Collée, A.M.W. van den Ouweland, M.J. Hooning, I.A. Boere; Leiden University Medical Center, NL: C.J. van Asperen, P. Devilee, R.B. van der Luijt, T.C.T.E.F. van Cronenburg; Radboud University Nijmegen Medical Center, NL: M.R. Wevers, A.R. Mensenkamp; University Medical Center Utrecht, NL: M.G.E.M. Ausems, M.J. Koudijs; Amsterdam Medical Center, NL: E.J. Meijers‐Heijboer, T.A.M. van Os; VU University Medical Center, Amsterdam, NL: K. van Engelen, J.J.P. Gille; Maastricht University Medical Center, NL: E.B. Gómez‐Garcia, M.J. Blok, M. de Boer; University of Groningen, NL: J.C. Oosterwijk, A.H. van der Hout, M.J.E. Mourits, G.H. de Bock; The Netherlands Comprehensive Cancer Organisation (IKNL): S. Siesling, J. Verloop; The nationwide network and registry of histo‐ and cyto‐pathology in the Netherlands (PALGA): E.C. van den Broek. HEBON thanks the study participants and the registration teams of IKNL and PALGA for part of the data collection. The HEBON study is supported by the Dutch Cancer Society grants NKI1998‐1854, NKI2004‐3088, NKI2007‐3756, the Netherlands Organisation of Scientific Research grant NWO 91109024, the Pink Ribbon grants 110005 and 2014‐187.WO76, the BBMRI grant NWO 184.021.007/CP46, and the Transcan grant JTC 2012 Cancer 12‐054. N.N. Petrov Institute of Oncology is supported by the Russian Foundation for Basic Research (grants 17‐00‐00171, 18‐515‐45012 and 19‐515‐25001).
Published: 2020

215. Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium

Author: Li, Hongyan, Terry, Mary Beth, Antoniou, Antonis C, Phillips, Kelly-Anne, Kast, Karin, Mooij, Thea M, Engel, Christoph, Noguès, Catherine, Stoppa-Lyonnet, Dominique, Lasset, Christine, Berthet, Pascaline, Mari, Veronique, Caron, Olivier, GENEPSO study, Barrowdale, Daniel, Frost, Debra, Brewer, Carole, Evans, D Gareth, Izatt, Louise, Side, Lucy, Walker, Lisa, Tischkowitz, Marc, Rogers, Mark T, Porteous, Mary E, Snape, Katie, EMBRACE study, Meijers-Heijboer, Hanne EJ, Gille, Johan JP, Blok, Marinus J, Hoogerbrugge, Nicoline, HEBON Investigators, Daly, Mary B, Andrulis, Irene L, Buys, Saundra S, John, Esther M, McLachlan, Sue-Anne, Friedlander, Michael, kConFab Investigators, Tan, Yen Y, Osorio, Ana, Caldes, Trinidad, Jakubowska, Anna, Simard, Jacques, Singer, Christian F, Olah, Edith, Navratilova, Marie, Foretova, Lenka, Gerdes, Anne-Marie, Roos-Blom, Marie-José, Arver, Brita, Olsson, Håkan, Schmutzler, Rita K, Hopper, John L, Milne, Roger L, Easton, Douglas F, Van Leeuwen, Flora E, Rookus, Matti A, Andrieu, Nadine, Goldgar, David E, Li, Hongyan [0000-0002-8166-9448], Antoniou, Antonis C [0000-0001-9223-3116], Phillips, Kelly-Anne [0000-0002-0475-1771], Engel, Christoph [0000-0002-7247-282X], Stoppa-Lyonnet, Dominique [0000-0002-5438-8309], Caron, Olivier [0000-0001-8934-2071], Evans, D Gareth [0000-0002-8482-5784], Gille, Johan JP [0000-0003-4526-298X], Hoogerbrugge, Nicoline [0000-0003-2393-8141], John, Esther M [0000-0003-3259-8003], Friedlander, Michael [0000-0003-3090-795X], Caldes, Trinidad [0000-0002-1038-5392], Milne, Roger L [0000-0001-5764-7268], and Apollo - University of Cambridge Repository
Subjects: Adult, BRCA2 Protein, Heterozygote, Alcohol Drinking, endocrine system diseases, BRCA1 Protein, Breast Neoplasms, Middle Aged, Cigarette Smoking, Risk Factors, Mutation, Humans, Female, Genetic Predisposition to Disease, Prospective Studies, skin and connective tissue diseases, Life Style, Reproductive History, Retrospective Studies
Abstract: BACKGROUND: Tobacco smoking and alcohol consumption have been intensively studied in the general population to assess their effects on the risk of breast cancer, but very few studies have examined these effects in BRCA1 and BRCA2 mutation carriers. Given the high breast cancer risk for mutation carriers and the importance of BRCA1 and BRCA2 in DNA repair, better evidence on the associations of these lifestyle factors with breast cancer risk is essential. METHODS: Using a large international pooled cohort of BRCA1 and BRCA2 mutation carriers, we conducted retrospective (5,707 BRCA1 mutation carriers and 3,525 BRCA2 mutation carriers) and prospective (2,276 BRCA1 mutation carriers and 1,610 BRCA2 mutation carriers) analyses of alcohol and tobacco consumption using Cox proportional hazards models. RESULTS: For both BRCA1 and BRCA2 mutation carriers, none of the smoking-related variables was associated with breast cancer risk, except smoking for more than 5 years before a first full-term pregnancy (FFTP) when compared with parous women who never smoked. For BRCA1 mutation carriers, the HR from retrospective analysis (HRR) was 1.19 [95% confidence interval (CI), 1.02-1.39] and the HR from prospective analysis (HRP) was 1.36 (95% CI, 0.99-1.87). For BRCA2 mutation carriers, smoking for more than 5 years before an FFTP showed an association of a similar magnitude, but the confidence limits were wider (HRR = 1.25; 95% CI, 1.01-1.55 and HRP = 1.30; 95% CI, 0.83-2.01). For both carrier groups, alcohol consumption was not associated with breast cancer risk. CONCLUSIONS: The finding that smoking during the prereproductive years increases breast cancer risk for mutation carriers warrants further investigation. IMPACT: This is the largest prospective study of BRCA mutation carriers to assess these important risk factors.
Published: 2020

216. Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

Author: Mavaddat, Nasim, Antoniou, Antonis C., Mooij, Thea M., Hooning, Maartje J., Heemskerk-Gerritsen, Bernadette A., Noguès, Catherine, Gauthier-Villars, Marion, Caron, Olivier, Gesta, Paul, Pujol, Pascal, Lortholary, Alain, Barrowdale, Daniel, Frost, Debra, Evans, D. Gareth, Izatt, Louise, Adlard, Julian, Eeles, Ros, Brewer, Carole, Tischkowitz, Marc, Henderson, Alex, Cook, Jackie, Eccles, Diana, van Engelen, Klaartje, Mourits, Marian J. E., Ausems, Margreet G. E. M., Koppert, Linetta B., Hopper, John L., John, Esther M., Chung, Wendy K., Andrulis, Irene L., Daly, Mary B., Buys, Saundra S., Benitez, Javier, Caldes, Trinidad, Jakubowska, Anna, Simard, Jacques, Singer, Christian F., Tan, Yen, Olah, Edith, Navratilova, Marie, Foretova, Lenka, Gerdes, Anne-Marie, Roos-Blom, Marie-José, Van Leeuwen, Flora E., Arver, Brita, Olsson, Håkan, Schmutzler, Rita K., Engel, Christoph, Kast, Karin, Phillips, Kelly-Anne, Terry, Mary Beth, Milne, Roger L., Goldgar, David E., Rookus, Matti A., Andrieu, Nadine, Easton, Douglas F., Laborde, Lilian, Breysse, Emmanuel, Stoppa-Lyonnet, Dominique, Buecher, Bruno, Fourme-Mouret, Emmanuelle, Fricker, Jean-Pierre, Lasset, Christine, Bonadona, Valérie, Berthet, Pascaline, Faivre, Laurence, Luporsi, Elisabeth, Mari, Véronique, Gladieff, Laurence, Sobol, Hagay, Eisinger, François, Longy, Michel, Dugast, Catherine, Colas, Chrystelle, Coupier, Isabelle, Corsini, Carole, Vennin, Philippe, Adenis, Claude, Nguyen, Tan Dat, Delnatte, Capucine, Tinat, Julie, Tennevet, Isabelle, Limacher, Jean-Marc, Maugard, Christine, Bignon, Yves-Jean, Demange, Liliane, Penet, Clotilde, Dreyfus, Hélène, Cohen-Haguenauer, Odile, Venat-Bouvet, Laurence, Leroux, Dominique, Zattara-Cannoni, Hélène, Fert-Ferrer, Sandra, Bera, Odile, Ellis, Steve, Hogervorst, F. B. L., Collée, J. M., van Asperen, C. J., Mensenkamp, A. R., Ausems, M. G. E. M., Meijers-Heijboer, H. E. J., van Engelen, K., Blok, M. J., Oosterwijk, J. C., Verloop, J., van den Broek, E., Mavaddat, Nasim [0000-0003-0307-055X], and Apollo - University of Cambridge Repository
Subjects: Risk-reducing salpingo-oophorectomy, Breast cancer, endocrine system diseases, Mutation, skin and connective tissue diseases, BRCA1, BRCA2, Research Article
Abstract: Background: The effect of risk-reducing salpingo-oophorectomy (RRSO) on breast cancer risk for BRCA1 and BRCA2 mutation carriers is uncertain. Retrospective analyses have suggested a protective effect but may be substantially biased. Prospective studies have had limited power, particularly for BRCA2 mutation carriers. Further, previous studies have not considered the effect of RRSO in the context of natural menopause. Methods: A multi-centre prospective cohort of 2272 BRCA1 and 1605 BRCA2 mutation carriers was followed for a mean of 5.4 and 4.9 years, respectively; 426 women developed incident breast cancer. RRSO was modelled as a time-dependent covariate in Cox regression, and its effect assessed in premenopausal and postmenopausal women. Results: There was no association between RRSO and breast cancer for BRCA1 (HR = 1.23; 95% CI 0.94–1.61) or BRCA2 (HR = 0.88; 95% CI 0.62–1.24) mutation carriers. For BRCA2 mutation carriers, HRs were 0.68 (95% CI 0.40–1.15) and 1.07 (95% CI 0.69–1.64) for RRSO carried out before or after age 45 years, respectively. The HR for BRCA2 mutation carriers decreased with increasing time since RRSO (HR = 0.51; 95% CI 0.26–0.99 for 5 years or longer after RRSO). Estimates for premenopausal women were similar. Conclusion: We found no evidence that RRSO reduces breast cancer risk for BRCA1 mutation carriers. A potentially beneficial effect for BRCA2 mutation carriers was observed, particularly after 5 years following RRSO. These results may inform counselling and management of carriers with respect to RRSO.
Published: 2020

217. Characterization of the cancer spectrum in men with germline BRCA1 and BRCA2 pathogenic variants

Author: Silvestri, Valentina, Leslie, Goska, Barnes, Daniel R., Agnarsson, Bjarni A., Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L., Barkardottir, Rosa B., Barroso, Alicia, Barrowdale, Daniel, Benitez, Javier, Bonanni, Bernardo, Borg, Ake, Buys, Saundra S., Caldés, Trinidad, Caligo, Maria A., Capalbo, Carlo, Campbell, Ian, Chung, Wendy K., Claes, Kathleen B. M., Colonna, Sarah V., Cortesi, Laura, Couch, Fergus J., de la Hoya, Miguel, Diez, Orland, Ding, Yuan Chun, Domchek, Susan, Easton, Douglas F., Ejlertsen, Bent, Engel, Christoph, Evans, D. Gareth, Feliubadalò, Lidia, Foretova, Lenka, Fostira, Florentia, Géczi, Lajos, Gerdes, Anne-Marie, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Hahnen, Eric, Hogervorst, Frans B. L., Hopper, John L., Hulick, Peter J., Isaacs, Claudine, Izquierdo, Angel, James, Paul A., Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Joseph, Vijai, Konstantopoulou, Irene, Kurian, Allison W., Kwong, Ava, Landucci, Elisabetta, Lesueur, Fabienne, Loud, Jennifer T., Machackova, Eva, Mai, Phuong L., Majidzadeh-A, Keivan, Manoukian, Siranoush, Montagna, Marco, Moserle, Lidia, Mulligan, Anna Marie, Nathanson, Katherine L., Nevanlinna, Heli, Ngeow Yuen Ye, Joanne, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Papi, Laura, Park, Sue K., Pedersen, Inge Sokilde, Perez-Segura, Pedro, Petersen, Annabeth H., Pinto, Pedro, Porfirio, Berardino, Pujana, Miquel Angel, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad U., Rosenzweig, Barak, Rossing, Maria, Santamariña, Marta, Schmutzler, Rita K., Senter, Leigha, Simard, Jacques, Singer, Christian F., Solano, Angela R., Southey, Melissa C., Steele, Linda, Steinsnyder, Zoe, Stoppa-Lyonnet, Dominique, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo H., Terry, Mary Beth, Thomassen, Mads, Toland, Amanda E., Torres-Esquius, Sara, Tung, Nadine, van Asperen, Christi J., Vega, Ana, Viel, Alessandra, Vierstraete, Jeroen, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wieme, Greet, Yoon, Sook-Yee, Zorn, Kristin K., Mcguffog, Lesley, Parsons, Michael T., Hamann, Ute, Greene, Mark H., Kirk, Judy A., Neuhausen, Susan L., Rebbeck, Timothy R., Tischkowitz, Marc, Chenevix-Trench, Georgia, Antoniou, Antonis C., Friedman, Eitan, and Ottini, Laura
Subjects: male cancers, BRCA, cancer spectrum
Published: 2020

218. RAD51 135G C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies

Author: Antoniou, Antonis C., Sinilnikova, Olga M., Simard, Jacques, Leone, Melanie, Dumont, Martine, Neuhausen, Susan L., Struewing, Jeffery P., Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Hughes, David J., Coupier, Isabelle, Belotti, Muriel, Lasset, Christine, Bonadona, Valerie, Bignon, Yves-Jean, Rebbeck, Timothy R., Wagner, Theresa, Lynch, Henry T., Domchek, Susan M., Nathanson, Katherine L., Garber, Judy E., Weitzel, Jeffrey, Narod, Steven A., Tomlinson, Gail, and Godwin, Andrew
Subjects: Breast cancer -- Genetic aspects, Breast cancer -- Risk factors, Mutation (Biology) -- Research, Polymerase chain reaction -- Usage, Biological sciences
Abstract: The article examines RAD51 135 G C polymorphism (rs1801320) with breast cancer risk among BRCA2 female mutation carriers from 19 studies. RAD51 gene is found to be reliable as a modifier of risk among BRCA2 mutation carriers.
Published: 2007

219. Partnering in Oncogenetic Research – The INHERIT BRCAs Experience: Opportunities and Challenges

Author: Avard, Denise, Bridge, Peter, Bucci, Lucie M., Chiquette, Jocelyne, Dorval, Michel, Durocher, Francine, Easton, Doug, Godard, Béatrice, Goldgar, David, Knoppers, Bartha Maria, Laframboise, Rachel, Lespérance, Bernard, Plante, Marie, Tavtigian, Sean V., Vézina, Hélène, Wilson, Brenda, Simard, Jacques, and INHERIT BRCAs
Published: 2006
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220. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Author: Zhan, Haoyu, Ahearn, Thomas U., Lecarpentier, Julie, Barnes, Daniel, Beesley, Jonathan, Qi, Guanghao, Hang, Xia, O'Mara, Tracy A., Zhao, Ni, Bolla, Manjeet K., Dunning, Alison M., Dennis, Joe, Wang, Qin, Abu Ful, Zumuruda, Aittomaki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J., Arun, Banu K., Auer, Paul L., Azzollini, Jacopo, Barrowdale, Daniel, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blanco, Ana, Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Stig E., Bonanni, Bernardo, Bondavalli, Davide, Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Broeks, Annegien, Brucker, Sara Y., Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Byers, Helen, Caldes, Trinidad, Caligo, Maria A., Calvello, Mariarosaria, Campa, Daniele, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Christiaens, Melissa, Christiansen, Hans, Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Cornelissen, Sten, Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Diez, Orland, Domchek, Susan M., Doerk, Thilo, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Foretova, Lenka, Fostira, Florentia, Friedman, Eitan, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M., Garber, Judy, Garcia-Saenz, Jose A., Gaudet, Mia M., Gayther, Simon A., Giles, Graham G., Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Hake, Christopher R., Hall, Per, Hamann, Ute, Harkness, Elaine F., Heemskerk-Gerritsen, Bernadette A. M., Hillemanns, Peter, Hogervorst, Frans B. L., Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Howell, Anthony, Huebner, Hanna, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Jager, Agnes, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Kapoor, Pooja Middha, Karlan, Beth Y., Keeman, Renske, Khan, Sofia, Khusnutdinova, Elza, Kitahara, Cari M., Ko, Yon-Dschun, Konstantopoulou, Irene, Koppert, Linetta B., Koutros, Stella, Kristensen, Vessela N., Laenkholm, Anne-Vibeke, Lambrechts, Diether, Larsson, Susanna C., Laurent-Puig, Pierre, Lazaro, Conxi, Lazarova, Emilija, Lejbkowicz, Flavio, Leslie, Goska, Lesueur, Fabienne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loud, Jennifer T., Lubinski, Jan, Lukomska, Alicja, Maclnnis, Robert J., Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Matricardi, Laura, McGuffog, Lesley, McLean, Catriona, Mebirouk, Noura, Meindl, Alfons, Menon, Usha, Miller, Austin, Mingazheva, Elvira, Montagna, Marco, Mulligan, Anna Marie, Mulot, Claire, Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Newman, William G., Nielsens, Finn C., Nikitina-Zake, Liene, Nodora, Jesse, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olsson, Hakan, Orr, Nick, Papi, Laura, Papp, Janos, Park-Simon, Tjoung-Won, Parsons, Michael T., Peissel, Bernard, Peixoto, Ana, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Phillips, Kelly-Anne, Piedmonte, Marion, Plaseska-Karanfilska, Dijana, Prajzendanc, Karolina, Prentice, Ross, Prokofyeva, Darya, Rack, Brigitte, Radice, Paolo, Ramus, Susan J., Rantala, Johanna, Rashid, Muhammad U., Rennert, Gad, Rennert, Hedy S., Risch, Harvey A., Romero, Atocha, Rookus, Matti A., Ruebner, Matthias, Ruediger, Thomas, Saloustros, Emmanouil, Sampson, Sarah, Sandler, Dale P., Sawyer, Elinor J., Scheuner, Maren T., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schoettker, Ben, Schuermann, Peter, Senter, Leigha, Sharma, Priyanka, Sherman, Mark E., Shu, Xiao-Ou, Singer, Christian F., Smichkoska, Snezhana, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Stone, Jennifer, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony J., Szabo, Csilla, I, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teixeira, Manuel R., Terry, MaryBeth, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Tollenaar, Rob A. E. M., Tomlinson, Ian, Torres, Diana, Troester, Melissa A., Truong, Therese, Tung, Nadine, Untch, Michael, Vachon, Celine M., van den Ouweland, Ans M. W., van der Kolk, Lizet E., van Veen, Elke M., vanRensburg, Elizabeth J., Vega, Ana, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wildiers, Hans, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zheng, Wei, Zorn, Kristin K., Milne, Roger L., Kraft, Peter, Simard, Jacques, Pharoah, Paul D. P., Michailidou, Kyriaki, Antoniou, Antonis C., Schmidt, Marjanka K., Chenevix-Trench, Georgia, Easton, Douglas F., Chatterjee, Nilanjan, Garcia-Closas, Montserrat, Zhan, Haoyu, Ahearn, Thomas U., Lecarpentier, Julie, Barnes, Daniel, Beesley, Jonathan, Qi, Guanghao, Hang, Xia, O'Mara, Tracy A., Zhao, Ni, Bolla, Manjeet K., Dunning, Alison M., Dennis, Joe, Wang, Qin, Abu Ful, Zumuruda, Aittomaki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J., Arun, Banu K., Auer, Paul L., Azzollini, Jacopo, Barrowdale, Daniel, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blanco, Ana, Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Stig E., Bonanni, Bernardo, Bondavalli, Davide, Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Broeks, Annegien, Brucker, Sara Y., Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Byers, Helen, Caldes, Trinidad, Caligo, Maria A., Calvello, Mariarosaria, Campa, Daniele, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Christiaens, Melissa, Christiansen, Hans, Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Cornelissen, Sten, Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Diez, Orland, Domchek, Susan M., Doerk, Thilo, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Foretova, Lenka, Fostira, Florentia, Friedman, Eitan, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M., Garber, Judy, Garcia-Saenz, Jose A., Gaudet, Mia M., Gayther, Simon A., Giles, Graham G., Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Hake, Christopher R., Hall, Per, Hamann, Ute, Harkness, Elaine F., Heemskerk-Gerritsen, Bernadette A. M., Hillemanns, Peter, Hogervorst, Frans B. L., Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Howell, Anthony, Huebner, Hanna, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Jager, Agnes, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Kapoor, Pooja Middha, Karlan, Beth Y., Keeman, Renske, Khan, Sofia, Khusnutdinova, Elza, Kitahara, Cari M., Ko, Yon-Dschun, Konstantopoulou, Irene, Koppert, Linetta B., Koutros, Stella, Kristensen, Vessela N., Laenkholm, Anne-Vibeke, Lambrechts, Diether, Larsson, Susanna C., Laurent-Puig, Pierre, Lazaro, Conxi, Lazarova, Emilija, Lejbkowicz, Flavio, Leslie, Goska, Lesueur, Fabienne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loud, Jennifer T., Lubinski, Jan, Lukomska, Alicja, Maclnnis, Robert J., Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Matricardi, Laura, McGuffog, Lesley, McLean, Catriona, Mebirouk, Noura, Meindl, Alfons, Menon, Usha, Miller, Austin, Mingazheva, Elvira, Montagna, Marco, Mulligan, Anna Marie, Mulot, Claire, Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Newman, William G., Nielsens, Finn C., Nikitina-Zake, Liene, Nodora, Jesse, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olsson, Hakan, Orr, Nick, Papi, Laura, Papp, Janos, Park-Simon, Tjoung-Won, Parsons, Michael T., Peissel, Bernard, Peixoto, Ana, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Phillips, Kelly-Anne, Piedmonte, Marion, Plaseska-Karanfilska, Dijana, Prajzendanc, Karolina, Prentice, Ross, Prokofyeva, Darya, Rack, Brigitte, Radice, Paolo, Ramus, Susan J., Rantala, Johanna, Rashid, Muhammad U., Rennert, Gad, Rennert, Hedy S., Risch, Harvey A., Romero, Atocha, Rookus, Matti A., Ruebner, Matthias, Ruediger, Thomas, Saloustros, Emmanouil, Sampson, Sarah, Sandler, Dale P., Sawyer, Elinor J., Scheuner, Maren T., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schoettker, Ben, Schuermann, Peter, Senter, Leigha, Sharma, Priyanka, Sherman, Mark E., Shu, Xiao-Ou, Singer, Christian F., Smichkoska, Snezhana, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Stone, Jennifer, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony J., Szabo, Csilla, I, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teixeira, Manuel R., Terry, MaryBeth, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Tollenaar, Rob A. E. M., Tomlinson, Ian, Torres, Diana, Troester, Melissa A., Truong, Therese, Tung, Nadine, Untch, Michael, Vachon, Celine M., van den Ouweland, Ans M. W., van der Kolk, Lizet E., van Veen, Elke M., vanRensburg, Elizabeth J., Vega, Ana, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wildiers, Hans, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zheng, Wei, Zorn, Kristin K., Milne, Roger L., Kraft, Peter, Simard, Jacques, Pharoah, Paul D. P., Michailidou, Kyriaki, Antoniou, Antonis C., Schmidt, Marjanka K., Chenevix-Trench, Georgia, Easton, Douglas F., Chatterjee, Nilanjan, and Garcia-Closas, Montserrat
Abstract: Genome-wide analysis identifies 32 loci associated with breast cancer susceptibility, accounting for estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype(1-3). To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. We identified 32 novel susceptibility loci (P < 5.0 x 10(-8)), 15 of which showed evidence for associations with at least one tumor feature (false discovery rate < 0.05). Five loci showed associations (P < 0.05) in opposite directions between luminal and non-luminal subtypes. In silico analyses showed that these five loci contained cell-specific enhancers that differed between normal luminal and basal mammary cells. The genetic correlations between five intrinsic-like subtypes ranged from 0.35 to 0.80. The proportion of genome-wide chip heritability explained by all known susceptibility loci was 54.2% for luminal A-like disease and 37.6% for triple-negative disease. The odds ratios of polygenic risk scores, which included 330 variants, for the highest 1% of quantiles compared with middle quantiles were 5.63 and 3.02 for luminal A-like and triple-negative disease, respectively. These findings provide an improved understanding of genetic predisposition to breast cancer subtypes and will inform the development of subtype-specific polygenic risk scores.
Published: 2020
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221. A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

Author: Escala-Garcia, Maria, Abraham, Jean, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Ashworth, Alan, Auer, Paul L., Auvinen, Paivi, Beckmann, Matthias W., Beesley, Jonathan, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Blot, William, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Borresen-Dale, Anne-Lise, Brauch, Hiltrud, Brenner, Hermann, Brucker, Sara Y., Burwinkel, Barbara, Caldas, Carlos, Canzian, Federico, Chang-Claude, Jenny, Chanock, Stephen J., Chin, Suet-Feung, Clarke, Christine L., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Dennis, Joe, Devilee, Peter, Dunn, Janet A., Dunning, Alison M., Dwek, Miriam, Earl, Helena M., Eccles, Diana M., Eliassen, A. Heather, Ellberg, Carolina, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Gago-Dominguez, Manuela, Gapstur, Susan M., Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Gaudet, Mia M., George, Angela, Giles, Graham G., Goldgar, David E., Gonzalez-Neira, Anna, Grip, Mervi, Guenel, Pascal, Guo, Qi, Haiman, Christopher A., Hakansson, Niclas, Hamann, Ute, Harrington, Patricia A., Hiller, Louise, Hooning, Maartje J., Hopper, John L., Howell, Anthony, Huang, Chiun-Sheng, Huang, Guanmengqian, Hunter, David J., Jakubowska, Anna, John, Esther M., Kaaks, Rudolf, Kapoor, Pooja Middha, Keeman, Renske, Kitahara, Cari M., Koppert, Linetta B., Kraft, Peter, Kristensen, Vessela N., Lambrechts, Diether, Le Marchand, Loic, Lejbkowicz, Flavio, Lindblom, Annika, Lubinski, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Maurer, Tabea, Mavroudis, Dimitrios, Meindl, Alfons, Milne, Roger L., Mulligan, Anna Marie, Neuhausen, Susan L., Nevanlinna, Heli, Newman, William G., Olshan, Andrew F., Olson, Janet E., Olsson, Hakan, Orr, Nick, Peterlongo, Paolo, Petridis, Christos, Prentice, Ross L., Presneau, Nadege, Punie, Kevin, Ramachandran, Dhanya, Rennert, Gad, Romero, Atocha, Sachchithananthan, Mythily, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Schwentner, Lukas, Scott, Christopher, Simard, Jacques, Sohn, Christof, Southey, Melissa C., Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Teixeira, Manuel R., Terry, Mary Beth, Thorne, Heather, Tollenaar, Rob A. E. M., Tomlinson, Ian, Troester, Melissa A., Truong, Therese, Turnbull, Clare, Vachon, Celine M., van der Kolk, Lizet E., Wang, Qin, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R., Ziogas, Argyrios, Pharoah, Paul D. P., Hall, Per, Wessels, Lodewyk F. A., Chenevix-Trench, Georgia, Bader, Gary D., Doerk, Thilo, Easton, Douglas F., Canisius, Sander, Schmidt, Marjanka K., Escala-Garcia, Maria, Abraham, Jean, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Ashworth, Alan, Auer, Paul L., Auvinen, Paivi, Beckmann, Matthias W., Beesley, Jonathan, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Blot, William, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Borresen-Dale, Anne-Lise, Brauch, Hiltrud, Brenner, Hermann, Brucker, Sara Y., Burwinkel, Barbara, Caldas, Carlos, Canzian, Federico, Chang-Claude, Jenny, Chanock, Stephen J., Chin, Suet-Feung, Clarke, Christine L., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Dennis, Joe, Devilee, Peter, Dunn, Janet A., Dunning, Alison M., Dwek, Miriam, Earl, Helena M., Eccles, Diana M., Eliassen, A. Heather, Ellberg, Carolina, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Gago-Dominguez, Manuela, Gapstur, Susan M., Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Gaudet, Mia M., George, Angela, Giles, Graham G., Goldgar, David E., Gonzalez-Neira, Anna, Grip, Mervi, Guenel, Pascal, Guo, Qi, Haiman, Christopher A., Hakansson, Niclas, Hamann, Ute, Harrington, Patricia A., Hiller, Louise, Hooning, Maartje J., Hopper, John L., Howell, Anthony, Huang, Chiun-Sheng, Huang, Guanmengqian, Hunter, David J., Jakubowska, Anna, John, Esther M., Kaaks, Rudolf, Kapoor, Pooja Middha, Keeman, Renske, Kitahara, Cari M., Koppert, Linetta B., Kraft, Peter, Kristensen, Vessela N., Lambrechts, Diether, Le Marchand, Loic, Lejbkowicz, Flavio, Lindblom, Annika, Lubinski, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Maurer, Tabea, Mavroudis, Dimitrios, Meindl, Alfons, Milne, Roger L., Mulligan, Anna Marie, Neuhausen, Susan L., Nevanlinna, Heli, Newman, William G., Olshan, Andrew F., Olson, Janet E., Olsson, Hakan, Orr, Nick, Peterlongo, Paolo, Petridis, Christos, Prentice, Ross L., Presneau, Nadege, Punie, Kevin, Ramachandran, Dhanya, Rennert, Gad, Romero, Atocha, Sachchithananthan, Mythily, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Schwentner, Lukas, Scott, Christopher, Simard, Jacques, Sohn, Christof, Southey, Melissa C., Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Teixeira, Manuel R., Terry, Mary Beth, Thorne, Heather, Tollenaar, Rob A. E. M., Tomlinson, Ian, Troester, Melissa A., Truong, Therese, Turnbull, Clare, Vachon, Celine M., van der Kolk, Lizet E., Wang, Qin, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R., Ziogas, Argyrios, Pharoah, Paul D. P., Hall, Per, Wessels, Lodewyk F. A., Chenevix-Trench, Georgia, Bader, Gary D., Doerk, Thilo, Easton, Douglas F., Canisius, Sander, and Schmidt, Marjanka K.
Abstract: Identifying the underlying genetic drivers of the heritability of breast cancer prognosis remains elusive. We adapt a network-based approach to handle underpowered complex datasets to provide new insights into the potential function of germline variants in breast cancer prognosis. This network-based analysis studies similar to 7.3 million variants in 84,457 breast cancer patients in relation to breast cancer survival and confirms the results on 12,381 independent patients. Aggregating the prognostic effects of genetic variants across multiple genes, we identify four gene modules associated with survival in estrogen receptor (ER)-negative and one in ER-positive disease. The modules show biological enrichment for cancer-related processes such as G-alpha signaling, circadian clock, angiogenesis, and Rho-GTPases in apoptosis.
Published: 2020
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222. Personalized early detection and prevention of breast cancer: ENVISION consensus statement.

Author: Pashayan, Nora, Pashayan, Nora, Antoniou, Antonis C, Ivanus, Urska, Esserman, Laura J, Easton, Douglas F, French, David, Sroczynski, Gaby, Hall, Per, Cuzick, Jack, Evans, D Gareth, Simard, Jacques, Garcia-Closas, Montserrat, Schmutzler, Rita, Wegwarth, Odette, Pharoah, Paul, Moorthie, Sowmiya, De Montgolfier, Sandrine, Baron, Camille, Herceg, Zdenko, Turnbull, Clare, Balleyguier, Corinne, Rossi, Paolo Giorgi, Wesseling, Jelle, Ritchie, David, Tischkowitz, Marc, Broeders, Mireille, Reisel, Dan, Metspalu, Andres, Callender, Thomas, de Koning, Harry, Devilee, Peter, Delaloge, Suzette, Schmidt, Marjanka K, Widschwendter, Martin, Pashayan, Nora, Pashayan, Nora, Antoniou, Antonis C, Ivanus, Urska, Esserman, Laura J, Easton, Douglas F, French, David, Sroczynski, Gaby, Hall, Per, Cuzick, Jack, Evans, D Gareth, Simard, Jacques, Garcia-Closas, Montserrat, Schmutzler, Rita, Wegwarth, Odette, Pharoah, Paul, Moorthie, Sowmiya, De Montgolfier, Sandrine, Baron, Camille, Herceg, Zdenko, Turnbull, Clare, Balleyguier, Corinne, Rossi, Paolo Giorgi, Wesseling, Jelle, Ritchie, David, Tischkowitz, Marc, Broeders, Mireille, Reisel, Dan, Metspalu, Andres, Callender, Thomas, de Koning, Harry, Devilee, Peter, Delaloge, Suzette, Schmidt, Marjanka K, and Widschwendter, Martin
Abstract: The European Collaborative on Personalized Early Detection and Prevention of Breast Cancer (ENVISION) brings together several international research consortia working on different aspects of the personalized early detection and prevention of breast cancer. In a consensus conference held in 2019, the members of this network identified research areas requiring development to enable evidence-based personalized interventions that might improve the benefits and reduce the harms of existing breast cancer screening and prevention programmes. The priority areas identified were: 1) breast cancer subtype-specific risk assessment tools applicable to women of all ancestries; 2) intermediate surrogate markers of response to preventive measures; 3) novel non-surgical preventive measures to reduce the incidence of breast cancer of poor prognosis; and 4) hybrid effectiveness-implementation research combined with modelling studies to evaluate the long-term population outcomes of risk-based early detection strategies. The implementation of such programmes would require health-care systems to be open to learning and adapting, the engagement of a diverse range of stakeholders and tailoring to societal norms and values, while also addressing the ethical and legal issues. In this Consensus Statement, we discuss the current state of breast cancer risk prediction, risk-stratified prevention and early detection strategies, and their implementation. Throughout, we highlight priorities for advancing each of these areas.
Published: 2020

223. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Author: Fachal, Laura, Aschard, Hugues, Beesley, Jonathan, Barnes, Daniel R., Allen, Jamie, Kar, Siddhartha, Pooley, Karen A., Dennis, Joe, Michailidou, Kyriaki, Turman, Constance, Soucy, Penny, Lemacon, Audrey, Lush, Michael, Tyrer, Jonathan P., Ghoussaini, Maya, Marjaneh, Mahdi Moradi, Jiang, Xia, Agata, Simona, Aittomaki, Kristiina, Rosario Alonso, M., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arason, Adalgeir, Arndt, Volker, Aronson, Kristan J., Arun, Banu K., Auber, Bernd, Auer, Paul L., Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blanco, Amie M., Blomqvist, Carl, Blot, William, Bogdanova, Natalia, V, Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Borg, Ake, Bosse, Kristin, Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Brock, Ian W., Brooks-Wilson, Angela, Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Cai, Qiuyin, Caldes, Trinidad, Caligo, Maria A., Camp, Nicola J., Campbell, Ian, Canzian, Federico, Carroll, Jason S., Carter, Brian D., Castelao, Jose E., Chiquette, Jocelyne, Christiansen, Hans, Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Collee, J. Margriet, Cornelissen, Sten, Couch, Fergus J., Cox, Angela, Cross, Simon S., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S., Domchek, Susan M., Doerk, Thilo, dos-Santos-Silva, Isabel, Droit, Arnaud, Dubois, Stephane, Dumont, Martine, Duran, Mercedes, Durcan, Lorraine, Dwek, Miriam, Eccles, Diana M., Engel, Christoph, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Fletcher, Olivia, Floris, Giuseppe, Flyger, Henrik, Foretova, Lenka, Foulkes, William D., Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Gago-Dominguez, Manuela, Gambino, Gaetana, Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Garcia-Saenz, Jose A., Gaudet, Mia M., Georgoulias, Vassilios, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Tibiletti, Maria Grazia, Greene, Mark H., Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Guenel, Pascal, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hartikainen, Jaana M., Hartman, Mikael, He, Wei, Healey, Catherine S., Heemskerk-Gerritsen, Bernadette A. M., Heyworth, Jane, Hillemanns, Peter, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hopper, John L., Howell, Anthony, Huang, Guanmengqian, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Iwasaki, Motoki, Jager, Agnes, Jakimovska, Milena, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jankowitz, Rachel C., John, Esther M., Johnson, Nichola, Jones, Michael E., Jukkola-Vuorinen, Arja, Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Kapoor, Pooja Middha, Karlan, Beth Y., Keeman, Renske, Kerin, Michael J., Khusnutdinova, Elza, Kiiski, Johanna, I, Kirk, Judy, Kitahara, Cari M., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Koutros, Stella, Kubelka-Sabit, Katerina, Kwong, Ava, Kyriacou, Kyriacos, Laitman, Yael, Lambrechts, Diether, Lee, Eunjung, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Lindblom, Annika, Lo, Wing-Yee, Long, Jirong, Lophatananon, Artitaya, Loud, Jennifer T., Lubinski, Jan, MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Matsuo, Keitaro, Maurer, Tabea, Mavroudis, Dimitrios, Mayes, Rebecca, McGuffog, Lesley, McLean, Catriona, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Miller, Nicola, Montagna, Marco, Moreno, Fernando, Muir, Kenneth, Mulligan, Anna Marie, Munoz-Garzon, Victor M., Muranen, Taru A., Narod, Steven A., Nassir, Rami, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nielsen, Finn C., Nikitina-Zake, Liene, Norman, Aaron, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olsson, Hakan, Orr, Nick, Osorio, Ana, Pankratz, V. Shane, Papp, Janos, Park, Sue K., Park-Simon, Tjoung-Won, Parsons, Michael T., Paul, James, Pedersen, Inge Sokilde, Peissel, Bernard, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Prajzendanc, Karolina, Prentice, Ross, Presneau, Nadege, Prokofyeva, Darya, Angel Pujana, Miquel, Pylkas, Katri, Radice, Paolo, Ramus, Susan J., Rantala, Johanna, Rau-Murthy, Rohini, Rennert, Gad, Risch, Harvey A., Robson, Mark, Romero, Atocha, Rossing, Maria, Saloustros, Emmanouil, Sanchez-Herrero, Estela, Sandler, Dale P., Santamarina, Marta, Saunders, Christobel, Sawyer, Elinor J., Scheuner, Maren T., Schmidt, Daniel F., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schoettker, Ben, Schuermann, Peter, Scott, Christopher, Scott, Rodney J., Senter, Leigha, Seynaeve, Caroline M., Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Shu, Xiao-Ou, Singer, Christian F., Slavin, Thomas P., Smichkoska, Snezhana, Southey, Melissa C., Spinelli, John J., Spurdle, Amanda B., Stone, Jennifer, Stoppa-Lyonnet, Dominique, Sutter, Christian, Swerdlow, Anthony J., Tamimi, Rulla M., Tan, Yen Yen, Tapper, William J., Taylor, Jack A., Teixeira, Manuel R., Tengstroem, Maria, Teo, Soo Hwang, Terry, Mary Beth, Teul, Alex, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Tollenaar, Rob A. E. M., Tomlinson, Ian, Torres, Diana, Torres-Mejia, Gabriela, Troester, Melissa A., Truong, Therese, Tung, Nadine, Tzardi, Maria, Ulmer, Hans-Ulrich, Vachon, Celine M., van Asperen, Christi J., van der Kolk, Lizet E., van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra, Vijai, Joseph, Vogel, Maartje J., Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wendt, Camilla, Wildiers, Hans, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Yannoukakos, Drakoulis, Zhang, Yan, Zheng, Wei, Hunter, David, Pharoah, Paul D. P., Chang-Claude, Jenny, Garcia-Closas, Montserrat, Schmidt, Marjanka K., Milne, Roger L., Kristensen, Vessela N., French, Juliet D., Edwards, Stacey L., Antoniou, Antonis C., Chenevix-Trench, Georgia, Simard, Jacques, Easton, Douglas F., Kraft, Peter, Dunning, Alison M., Mari, Veronique, Berthet, Pascaline, Castera, Laurent, Vaur, Dominique, Lallaoui, Hakima, Bignon, Yves-Jean, Uhrhammer, Nancy, Bonadona, Valerie, Lasset, Christine, Revillion, Francoise, Vennin, Paul, Muller, Daniele, Gomes, Denise Molina, Ingster, Olivier, Coupier, Isabelle, Pujol, Pascal, Collonge-Rame, Marie-Agnes, Mortemousque, Isabelle, Bera, Odile, Rose, Mickaelle, Baurand, Amandine, Bertolone, Geoffrey, Faivre, Laurence, Dreyfus, Hlne, Leroux, Dominique, Venat-Bouvet, Laurence, Bezieau, Stephane, Delnatte, Capucine, Chiesa, Jean, Gilbert-Dussardier, Brigitte, Gesta, Paul, Prieur, Fabienne Prieur, Bronner, Myriam, Sokolowska, Johanna, Coulet, Florence, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Leone, Melanie, Fert-Ferrer, Sandra, Jiao, Yue, Lesueur, Fabienne Lesueur, Barouk-Simonet, Emmanuelle, Bubien, Virginie, Longy, Michel, Sevenet, Nicolas, Gladieff, Laurence, Toulas, Christine, Reimineras, Audrey, Sobol, Hagay, Bressac-de Paillerets, Brigitte, Cabaret, Odile, Caron, Olivier, Guillaud-Bataille, Marine, Rouleau, Etienne, Belotti, Muriel, Buecher, Bruno, Caputo, Sandrine, Colas, Chrystelle, De Pauw, Antoine, Fourme, Emmanuelle, Gauthier-Villars, Marion, Golmard, Lisa, Moncoutier, Virginie, Saule, Claire, Donaldson, Alan, Murray, Alex, Brady, Angela, Brewer, Carole, Pottinger, Caroline, Miller, Clare, Gallagher, David, Gregory, Helen, Cook, Jackie, Eason, Jacqueline, Adlard, Julian, Barwell, Julian, Ong, Kai-Ren, Snape, Katie, Walker, Lisa, Izatt, Louise, Side, Lucy, Rogers, Mark T., Porteous, Mary E., Ahmed, Munaza, Morrison, Patrick J., Brennan, Paul, Eeles, Ros, Davidson, Rosemarie, Sexton, Adrienne, Christian, Alice, Trainer, Alison, Spigelman, Allan, Fellows, Andrew, Shelling, Andrew, De Fazio, Anna, Blackburn, Anneke, Crook, Ashley, Meiser, Bettina, Patterson, Briony, Clarke, Christine, Hunt, Clare, Scott, Clare, Amor, David, Marsh, Deb, Edkins, Edward, Salisbury, Elizabeth, Haan, Eric, Neidermayr, Eveline, Macrea, Finlay, Farshid, Gelareh, Lindeman, Geoff, Trench, Georgia, Mann, Graham, Giles, Graham, Gill, Grantley, Thorne, Heather, Hickie, Ian, Winship, Ingrid, Flanagan, James, Kollias, James, Visvader, Jane, Taylor, Jessica, Burke, Jo, Saunus, Jodi, Forbes, John, Hopper, John, French, Juliet, Tucker, Kathy, Wu, Kathy, Phillips, Kelly, Lipton, Lara, Andrews, Leslie, Lobb, Lizz, Walker, Logan, Kentwell, Maira, Spurdle, Mandy, Cummings, Margaret, Gleeson, Margaret, Harris, Marion, Jenkins, Mark, Young, Mary Anne, Delatycki, Martin, Wallis, Mathew, Burgess, Matthew, Price, Melanie, Brown, Melissa, Southey, Melissa, Bogwitz, Michael, Field, Michael, Friedlander, Michael, Gattas, Michael, Saleh, Mona, Hayward, Nick, Pachter, Nick, Cohen, Paul, Duijf, Pascal, James, Paul, Simpson, Pete, Fong, Peter, Butow, Phyllis, Williams, Rachael, Kefford, Rick, Scott, Rodney, Milne, Roger, Balleine, Rosemary, Dawson, SarahJane, Lok, Sheau, O'Connell, Shona, Greening, Sian, Nightingale, Sophie, Edwards, Stacey, Fox, Stephen, Mclachlan, Sue-Anne, Lakhani, Sunil, Antill, Yoland, Aalfs, Cora, Meijers-Heijboer, Hanne, van Engelen, Klaartje, Gille, Hans, Boere, Ingrid, Collee, Margriet, van Deurzen, Carolien, Hooning, Maartje, Obdeijn, Inge-Marie, van den Ouweland, Ans, Seynaeve, Caroline, Siesling, Sabine, Verloop, Janneke, van Asperen, Christi, van Cronenburg, Twiggy, Blok, Rien, de Boer, Maaike, Garcia, Encarna Gomez, Adank, Muriel, Hogervorst, Frans, Jenner, Denise, van Leeuwen, Flora, Rookus, Matti, Russell, Nicola, Schmidt, Marjanka, van den Belt-Dusebout, Sandra, Kets, Carolien, Mensenkamp, Arjen, de Bock, Truuske, van Der Hout, Annemieke, Mourits, Marian, Oosterwijk, Jan, Ausems, Margreet, Koudijs, Marco, Marsh, Deborah, Baxter, Robert, Yip, Desmond, Carpenter, Jane, Davis, Alison, Pathmanathan, Nirmala, Simpson, Peter, Graham, Dinny, Sachchithananthan, Mythily, Fachal, Laura, Aschard, Hugues, Beesley, Jonathan, Barnes, Daniel R., Allen, Jamie, Kar, Siddhartha, Pooley, Karen A., Dennis, Joe, Michailidou, Kyriaki, Turman, Constance, Soucy, Penny, Lemacon, Audrey, Lush, Michael, Tyrer, Jonathan P., Ghoussaini, Maya, Marjaneh, Mahdi Moradi, Jiang, Xia, Agata, Simona, Aittomaki, Kristiina, Rosario Alonso, M., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arason, Adalgeir, Arndt, Volker, Aronson, Kristan J., Arun, Banu K., Auber, Bernd, Auer, Paul L., Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blanco, Amie M., Blomqvist, Carl, Blot, William, Bogdanova, Natalia, V, Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Borg, Ake, Bosse, Kristin, Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Brock, Ian W., Brooks-Wilson, Angela, Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Cai, Qiuyin, Caldes, Trinidad, Caligo, Maria A., Camp, Nicola J., Campbell, Ian, Canzian, Federico, Carroll, Jason S., Carter, Brian D., Castelao, Jose E., Chiquette, Jocelyne, Christiansen, Hans, Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Collee, J. Margriet, Cornelissen, Sten, Couch, Fergus J., Cox, Angela, Cross, Simon S., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S., Domchek, Susan M., Doerk, Thilo, dos-Santos-Silva, Isabel, Droit, Arnaud, Dubois, Stephane, Dumont, Martine, Duran, Mercedes, Durcan, Lorraine, Dwek, Miriam, Eccles, Diana M., Engel, Christoph, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Fletcher, Olivia, Floris, Giuseppe, Flyger, Henrik, Foretova, Lenka, Foulkes, William D., Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Gago-Dominguez, Manuela, Gambino, Gaetana, Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Garcia-Saenz, Jose A., Gaudet, Mia M., Georgoulias, Vassilios, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Tibiletti, Maria Grazia, Greene, Mark H., Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Guenel, Pascal, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hartikainen, Jaana M., Hartman, Mikael, He, Wei, Healey, Catherine S., Heemskerk-Gerritsen, Bernadette A. M., Heyworth, Jane, Hillemanns, Peter, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hopper, John L., Howell, Anthony, Huang, Guanmengqian, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Iwasaki, Motoki, Jager, Agnes, Jakimovska, Milena, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jankowitz, Rachel C., John, Esther M., Johnson, Nichola, Jones, Michael E., Jukkola-Vuorinen, Arja, Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Kapoor, Pooja Middha, Karlan, Beth Y., Keeman, Renske, Kerin, Michael J., Khusnutdinova, Elza, Kiiski, Johanna, I, Kirk, Judy, Kitahara, Cari M., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Koutros, Stella, Kubelka-Sabit, Katerina, Kwong, Ava, Kyriacou, Kyriacos, Laitman, Yael, Lambrechts, Diether, Lee, Eunjung, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Lindblom, Annika, Lo, Wing-Yee, Long, Jirong, Lophatananon, Artitaya, Loud, Jennifer T., Lubinski, Jan, MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Matsuo, Keitaro, Maurer, Tabea, Mavroudis, Dimitrios, Mayes, Rebecca, McGuffog, Lesley, McLean, Catriona, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Miller, Nicola, Montagna, Marco, Moreno, Fernando, Muir, Kenneth, Mulligan, Anna Marie, Munoz-Garzon, Victor M., Muranen, Taru A., Narod, Steven A., Nassir, Rami, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nielsen, Finn C., Nikitina-Zake, Liene, Norman, Aaron, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olsson, Hakan, Orr, Nick, Osorio, Ana, Pankratz, V. Shane, Papp, Janos, Park, Sue K., Park-Simon, Tjoung-Won, Parsons, Michael T., Paul, James, Pedersen, Inge Sokilde, Peissel, Bernard, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Prajzendanc, Karolina, Prentice, Ross, Presneau, Nadege, Prokofyeva, Darya, Angel Pujana, Miquel, Pylkas, Katri, Radice, Paolo, Ramus, Susan J., Rantala, Johanna, Rau-Murthy, Rohini, Rennert, Gad, Risch, Harvey A., Robson, Mark, Romero, Atocha, Rossing, Maria, Saloustros, Emmanouil, Sanchez-Herrero, Estela, Sandler, Dale P., Santamarina, Marta, Saunders, Christobel, Sawyer, Elinor J., Scheuner, Maren T., Schmidt, Daniel F., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schoettker, Ben, Schuermann, Peter, Scott, Christopher, Scott, Rodney J., Senter, Leigha, Seynaeve, Caroline M., Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Shu, Xiao-Ou, Singer, Christian F., Slavin, Thomas P., Smichkoska, Snezhana, Southey, Melissa C., Spinelli, John J., Spurdle, Amanda B., Stone, Jennifer, Stoppa-Lyonnet, Dominique, Sutter, Christian, Swerdlow, Anthony J., Tamimi, Rulla M., Tan, Yen Yen, Tapper, William J., Taylor, Jack A., Teixeira, Manuel R., Tengstroem, Maria, Teo, Soo Hwang, Terry, Mary Beth, Teul, Alex, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Tollenaar, Rob A. E. M., Tomlinson, Ian, Torres, Diana, Torres-Mejia, Gabriela, Troester, Melissa A., Truong, Therese, Tung, Nadine, Tzardi, Maria, Ulmer, Hans-Ulrich, Vachon, Celine M., van Asperen, Christi J., van der Kolk, Lizet E., van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra, Vijai, Joseph, Vogel, Maartje J., Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wendt, Camilla, Wildiers, Hans, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Yannoukakos, Drakoulis, Zhang, Yan, Zheng, Wei, Hunter, David, Pharoah, Paul D. P., Chang-Claude, Jenny, Garcia-Closas, Montserrat, Schmidt, Marjanka K., Milne, Roger L., Kristensen, Vessela N., French, Juliet D., Edwards, Stacey L., Antoniou, Antonis C., Chenevix-Trench, Georgia, Simard, Jacques, Easton, Douglas F., Kraft, Peter, Dunning, Alison M., Mari, Veronique, Berthet, Pascaline, Castera, Laurent, Vaur, Dominique, Lallaoui, Hakima, Bignon, Yves-Jean, Uhrhammer, Nancy, Bonadona, Valerie, Lasset, Christine, Revillion, Francoise, Vennin, Paul, Muller, Daniele, Gomes, Denise Molina, Ingster, Olivier, Coupier, Isabelle, Pujol, Pascal, Collonge-Rame, Marie-Agnes, Mortemousque, Isabelle, Bera, Odile, Rose, Mickaelle, Baurand, Amandine, Bertolone, Geoffrey, Faivre, Laurence, Dreyfus, Hlne, Leroux, Dominique, Venat-Bouvet, Laurence, Bezieau, Stephane, Delnatte, Capucine, Chiesa, Jean, Gilbert-Dussardier, Brigitte, Gesta, Paul, Prieur, Fabienne Prieur, Bronner, Myriam, Sokolowska, Johanna, Coulet, Florence, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Leone, Melanie, Fert-Ferrer, Sandra, Jiao, Yue, Lesueur, Fabienne Lesueur, Barouk-Simonet, Emmanuelle, Bubien, Virginie, Longy, Michel, Sevenet, Nicolas, Gladieff, Laurence, Toulas, Christine, Reimineras, Audrey, Sobol, Hagay, Bressac-de Paillerets, Brigitte, Cabaret, Odile, Caron, Olivier, Guillaud-Bataille, Marine, Rouleau, Etienne, Belotti, Muriel, Buecher, Bruno, Caputo, Sandrine, Colas, Chrystelle, De Pauw, Antoine, Fourme, Emmanuelle, Gauthier-Villars, Marion, Golmard, Lisa, Moncoutier, Virginie, Saule, Claire, Donaldson, Alan, Murray, Alex, Brady, Angela, Brewer, Carole, Pottinger, Caroline, Miller, Clare, Gallagher, David, Gregory, Helen, Cook, Jackie, Eason, Jacqueline, Adlard, Julian, Barwell, Julian, Ong, Kai-Ren, Snape, Katie, Walker, Lisa, Izatt, Louise, Side, Lucy, Rogers, Mark T., Porteous, Mary E., Ahmed, Munaza, Morrison, Patrick J., Brennan, Paul, Eeles, Ros, Davidson, Rosemarie, Sexton, Adrienne, Christian, Alice, Trainer, Alison, Spigelman, Allan, Fellows, Andrew, Shelling, Andrew, De Fazio, Anna, Blackburn, Anneke, Crook, Ashley, Meiser, Bettina, Patterson, Briony, Clarke, Christine, Hunt, Clare, Scott, Clare, Amor, David, Marsh, Deb, Edkins, Edward, Salisbury, Elizabeth, Haan, Eric, Neidermayr, Eveline, Macrea, Finlay, Farshid, Gelareh, Lindeman, Geoff, Trench, Georgia, Mann, Graham, Giles, Graham, Gill, Grantley, Thorne, Heather, Hickie, Ian, Winship, Ingrid, Flanagan, James, Kollias, James, Visvader, Jane, Taylor, Jessica, Burke, Jo, Saunus, Jodi, Forbes, John, Hopper, John, French, Juliet, Tucker, Kathy, Wu, Kathy, Phillips, Kelly, Lipton, Lara, Andrews, Leslie, Lobb, Lizz, Walker, Logan, Kentwell, Maira, Spurdle, Mandy, Cummings, Margaret, Gleeson, Margaret, Harris, Marion, Jenkins, Mark, Young, Mary Anne, Delatycki, Martin, Wallis, Mathew, Burgess, Matthew, Price, Melanie, Brown, Melissa, Southey, Melissa, Bogwitz, Michael, Field, Michael, Friedlander, Michael, Gattas, Michael, Saleh, Mona, Hayward, Nick, Pachter, Nick, Cohen, Paul, Duijf, Pascal, James, Paul, Simpson, Pete, Fong, Peter, Butow, Phyllis, Williams, Rachael, Kefford, Rick, Scott, Rodney, Milne, Roger, Balleine, Rosemary, Dawson, SarahJane, Lok, Sheau, O'Connell, Shona, Greening, Sian, Nightingale, Sophie, Edwards, Stacey, Fox, Stephen, Mclachlan, Sue-Anne, Lakhani, Sunil, Antill, Yoland, Aalfs, Cora, Meijers-Heijboer, Hanne, van Engelen, Klaartje, Gille, Hans, Boere, Ingrid, Collee, Margriet, van Deurzen, Carolien, Hooning, Maartje, Obdeijn, Inge-Marie, van den Ouweland, Ans, Seynaeve, Caroline, Siesling, Sabine, Verloop, Janneke, van Asperen, Christi, van Cronenburg, Twiggy, Blok, Rien, de Boer, Maaike, Garcia, Encarna Gomez, Adank, Muriel, Hogervorst, Frans, Jenner, Denise, van Leeuwen, Flora, Rookus, Matti, Russell, Nicola, Schmidt, Marjanka, van den Belt-Dusebout, Sandra, Kets, Carolien, Mensenkamp, Arjen, de Bock, Truuske, van Der Hout, Annemieke, Mourits, Marian, Oosterwijk, Jan, Ausems, Margreet, Koudijs, Marco, Marsh, Deborah, Baxter, Robert, Yip, Desmond, Carpenter, Jane, Davis, Alison, Pathmanathan, Nirmala, Simpson, Peter, Graham, Dinny, and Sachchithananthan, Mythily
Abstract: Fine-mapping of causal variants and integration of epigenetic and chromatin conformation data identify likely target genes for 150 breast cancer risk regions. Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants in each one. In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium and enriched genomic features to determine variants with high posterior probabilities of being causal. Potentially causal variants were significantly over-represented in active gene regulatory regions and transcription factor binding sites. We applied our INQUSIT pipeline for prioritizing genes as targets of those potentially causal variants, using gene expression (expression quantitative trait loci), chromatin interaction and functional annotations. Known cancer drivers, transcription factors and genes in the developmental, apoptosis, immune system and DNA integrity checkpoint gene ontology pathways were over-represented among the highest-confidence target genes.
Published: 2020

224. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Author: Patel, Vivek L., Busch, Evan L., Friebel, Tara M., Cronin, Angel, Leslie, Goska, McGuffog, Lesley, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A., Ahmed, Munaza, Aittomaki, Kristiina, Alducci, Elisa, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Artioli, Grazia, Arver, Brita, Auber, Bernd, Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barnes, Daniel R., Barroso, Alicia, Barrowdale, Daniel, 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, 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, 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, Ejlertsen, Bent, Engel, Christoph, Evans, D. Gareth, Faivre, Laurence, Faust, Ulrike, Feliubadalo, Lidia, 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, 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, Janavicius, Ramunas, Jensen, Uffe Birk, 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, 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, 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, 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, Ott, Claus-Eric, Palli, Domenico, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Perez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth Hogh, Porteous, Mary E., Angel Pujana, Miguel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rashid, Muhammad U., Rhiem, Kerstin, Rizzolo, Piera, Robson, Mark E., Rookus, Matti A., Rossing, Caroline M., Ruddy, Kathryn J., Santos, Catarina, 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, Snape, Katie, Solano, Angela R., Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Steele, Linda, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Stradella, Agostina, Sunde, Lone, 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, Antoniou, Antonis C., Neuhausen, Susan L., Ottini, Laura, Nielsen, Henriette Roed, Rebbeck, Timothy R., Patel, Vivek L., Busch, Evan L., Friebel, Tara M., Cronin, Angel, Leslie, Goska, McGuffog, Lesley, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A., Ahmed, Munaza, Aittomaki, Kristiina, Alducci, Elisa, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Artioli, Grazia, Arver, Brita, Auber, Bernd, Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barnes, Daniel R., Barroso, Alicia, Barrowdale, Daniel, 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, 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, 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, Ejlertsen, Bent, Engel, Christoph, Evans, D. Gareth, Faivre, Laurence, Faust, Ulrike, Feliubadalo, Lidia, 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, 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, Janavicius, Ramunas, Jensen, Uffe Birk, 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, 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, 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, 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, Ott, Claus-Eric, Palli, Domenico, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Perez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth Hogh, Porteous, Mary E., Angel Pujana, Miguel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rashid, Muhammad U., Rhiem, Kerstin, Rizzolo, Piera, Robson, Mark E., Rookus, Matti A., Rossing, Caroline M., Ruddy, Kathryn J., Santos, Catarina, 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, Snape, Katie, Solano, Angela R., Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Steele, Linda, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Stradella, Agostina, Sunde, Lone, 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, Antoniou, Antonis C., Neuhausen, Susan L., Ottini, Laura, Nielsen, Henriette Roed, and Rebbeck, Timothy R.
Abstract: Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. Weevaluated whether PSVs inBRCA1/2 were associated with risk of overall prostate cancer or high grade (Gleason 8+) prostate cancer using an international sample of 65 BRCA1 and 171 BRCA2 male PSV carriers with prostate cancer, and 3,388 BRCA1 and 2,880 BRCA2 male PSV carriers without prostate cancer. PSVs in the 30 region of BRCA2 (c.7914+) were significantly associated with elevated risk of prostate cancer compared with reference bin c.1001c.7913 [HR = 1.78; 95% confidence interval (CI), 1.25-2.52; P = 0.001], as well as elevated risk of Gleason 8+ prostate cancer (HR = 3.11; 95% CI, 1.63-5.95; P = 0.001). c.756-c.1000 was also associated with elevated prostate cancer risk (HR = 2.83; 95% CI, 1.71-4.68; P = 0.00004) and elevated risk of Gleason 8+prostate cancer (HR = 4.95; 95% CI, 2.12-11.54; P = 0.0002). No genotype-phenotype associations were detected for PSVs in BRCA1. These results demonstrate that specific BRCA2 PSVs may be associated with elevated risk of developing aggressive prostate cancer. Significance: Aggressive prostate cancer risk in BRCA2 mutation carriers may vary according to the specific BRCA2 mutation inherited by the at-risk individual.
Published: 2020

225. Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers (vol 22, 8, 2020)

Author: Mavaddat, Nasim, Antoniou, Antonis C., Mooij, Thea M., Hooning, Maartje J., Heemskerk-Gerritsen, Bernadette A., Nogues, Catherine, Gauthier-Villars, Marion, Caron, Olivier, Gesta, Paul, Pujol, Pascal, Lortholary, Alain, Barrowdale, Daniel, Frost, Debra, Evans, D. Gareth, Izatt, Louise, Adlard, Julian, Eeles, Ros, Brewer, Carole, Tischkowitz, Marc, Henderson, Alex, Cook, Jackie, Eccles, Diana, van Engelen, Klaartje, Mourits, Marian J. E., Ausems, Margreet G. E. M., Koppert, Linetta B., Hopper, John L., John, Esther M., Chung, Wendy K., Andrulis, Irene L., Daly, Mary B., Buys, Saundra S., Benitez, Javier, Caldes, Trinidad, Jakubowska, Anna, Simard, Jacques, Singer, Christian F., Tan, Yen, Olah, Edith, Navratilova, Marie, Foretova, Lenka, Gerdes, Anne-Marie, Roos-Blom, Marie-Jose, Van Leeuwen, Flora E., Arver, Brita, Olsson, Hakan, Schmutzler, Rita K., Engel, Christoph, Kast, Karin, Phillips, Kelly-Anne, Terry, Mary Beth, Milne, Roger L., Goldgar, David E., Rookus, Matti A., Andrieu, Nadine, Easton, Douglas F., Mavaddat, Nasim, Antoniou, Antonis C., Mooij, Thea M., Hooning, Maartje J., Heemskerk-Gerritsen, Bernadette A., Nogues, Catherine, Gauthier-Villars, Marion, Caron, Olivier, Gesta, Paul, Pujol, Pascal, Lortholary, Alain, Barrowdale, Daniel, Frost, Debra, Evans, D. Gareth, Izatt, Louise, Adlard, Julian, Eeles, Ros, Brewer, Carole, Tischkowitz, Marc, Henderson, Alex, Cook, Jackie, Eccles, Diana, van Engelen, Klaartje, Mourits, Marian J. E., Ausems, Margreet G. E. M., Koppert, Linetta B., Hopper, John L., John, Esther M., Chung, Wendy K., Andrulis, Irene L., Daly, Mary B., Buys, Saundra S., Benitez, Javier, Caldes, Trinidad, Jakubowska, Anna, Simard, Jacques, Singer, Christian F., Tan, Yen, Olah, Edith, Navratilova, Marie, Foretova, Lenka, Gerdes, Anne-Marie, Roos-Blom, Marie-Jose, Van Leeuwen, Flora E., Arver, Brita, Olsson, Hakan, Schmutzler, Rita K., Engel, Christoph, Kast, Karin, Phillips, Kelly-Anne, Terry, Mary Beth, Milne, Roger L., Goldgar, David E., Rookus, Matti A., Andrieu, Nadine, and Easton, Douglas F.
Abstract: After publication of the original article [1], we were notified that columns in Table 2 were erroneously displayed.
Published: 2020

226. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Author: Barnes, Daniel R., Rookus, Matti A., McGuffog, Lesley, Leslie, Goska, Mooij, Thea M., Dennis, Joe, Mavaddat, Nasim, Adlard, Julian, Ahmed, Munaza, Aittomaki, Kristiina, Andrieu, Nadine, Andrulis, Irene L., Arnold, Norbert, Arun, Banu K., Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Bialkowska, Katarzyna, Blanco, Amie M., Blok, Marinus J., Bonanni, Bernardo, Boonen, Susanne E., Borg, Ake, Bozsik, Aniko, Bradbury, Angela R., Brennan, Paul, Brewer, Carole, Brunet, Joan, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Christensen, Lise Lotte, Chung, Wendy K., Claes, Kathleen B. M., Colas, Chrystelle, Collonge-Rame, Marie-Agnes, Cook, Jackie, Daly, Mary B., Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Dorfling, Cecilia M., Dumont, Martine, Eeles, Ros, Ejlertsen, Bent, Engel, Christoph, Evans, D. Gareth, Faivre, Laurence, Foretova, Lenka, Fostira, Florentia, Friedlander, Michael, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gschwantler-Kaulich, Daphne, Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hentschel, Julia, Hogervorst, Frans B. L., Hooning, Maartje J., Horvath, Judit, Hu, Chunling, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kast, Karin, Koudijs, Marco, Kruse, Torben A., Kwong, Ava, Laitman, Yael, Lasset, Christine, Lazaro, Conxi, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loud, Jennifer T., Lubinski, Jan, Mai, Phuong L., Manoukian, Siranoush, Mari, Veronique, Mebirouk, Noura, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Mensenkamp, Arjen R., Miller, Austin, Montagna, Marco, Mouret-Fourme, Emmanuelle, Mukherjee, Semanti, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn Cilius, Nikitina-Zake, Liene, Nogues, Catherine, Olah, Edith, Olopade, Olufunmilayo, I, Ong, Kai-ren, O'Shaughnessy-Kirwan, Aoife, Osorio, Ana, Ott, Claus-Eric, Papi, Laura, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Peterlongo, Paolo, Pfeiler, Georg, Phillips, Kelly-Anne, Prajzendanc, Karolina, Pujana, Miquel Angel, Radice, Paolo, Ramser, Juliane, Ramus, Susan J., Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Robson, Mark, Ronlund, Karina, Salani, Ritu, Schuster, Helene, Senter, Leigha, Shah, Payal D., Sharma, Priyanka, Side, Lucy E., Singer, Christian F., Slavin, Thomas P., Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Steinemann, Doris, Steinsnyder, Zoe, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thull, Darcy L., Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Trainer, Alison H., Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Vega, Ana, Vierstraete, Jeroen, Wagner, Gabriel, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Yadav, Siddhartha, Yang, Xin, Yannoukakos, Drakoulis, Zimbalatti, Dario, Offit, Kenneth, Thomassen, Mads, Couch, Fergus J., Schmutzler, Rita K., Simard, Jacques, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., Barnes, Daniel R., Rookus, Matti A., McGuffog, Lesley, Leslie, Goska, Mooij, Thea M., Dennis, Joe, Mavaddat, Nasim, Adlard, Julian, Ahmed, Munaza, Aittomaki, Kristiina, Andrieu, Nadine, Andrulis, Irene L., Arnold, Norbert, Arun, Banu K., Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Bialkowska, Katarzyna, Blanco, Amie M., Blok, Marinus J., Bonanni, Bernardo, Boonen, Susanne E., Borg, Ake, Bozsik, Aniko, Bradbury, Angela R., Brennan, Paul, Brewer, Carole, Brunet, Joan, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Christensen, Lise Lotte, Chung, Wendy K., Claes, Kathleen B. M., Colas, Chrystelle, Collonge-Rame, Marie-Agnes, Cook, Jackie, Daly, Mary B., Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Dorfling, Cecilia M., Dumont, Martine, Eeles, Ros, Ejlertsen, Bent, Engel, Christoph, Evans, D. Gareth, Faivre, Laurence, Foretova, Lenka, Fostira, Florentia, Friedlander, Michael, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gschwantler-Kaulich, Daphne, Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hentschel, Julia, Hogervorst, Frans B. L., Hooning, Maartje J., Horvath, Judit, Hu, Chunling, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kast, Karin, Koudijs, Marco, Kruse, Torben A., Kwong, Ava, Laitman, Yael, Lasset, Christine, Lazaro, Conxi, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loud, Jennifer T., Lubinski, Jan, Mai, Phuong L., Manoukian, Siranoush, Mari, Veronique, Mebirouk, Noura, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Mensenkamp, Arjen R., Miller, Austin, Montagna, Marco, Mouret-Fourme, Emmanuelle, Mukherjee, Semanti, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn Cilius, Nikitina-Zake, Liene, Nogues, Catherine, Olah, Edith, Olopade, Olufunmilayo, I, Ong, Kai-ren, O'Shaughnessy-Kirwan, Aoife, Osorio, Ana, Ott, Claus-Eric, Papi, Laura, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Peterlongo, Paolo, Pfeiler, Georg, Phillips, Kelly-Anne, Prajzendanc, Karolina, Pujana, Miquel Angel, Radice, Paolo, Ramser, Juliane, Ramus, Susan J., Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Robson, Mark, Ronlund, Karina, Salani, Ritu, Schuster, Helene, Senter, Leigha, Shah, Payal D., Sharma, Priyanka, Side, Lucy E., Singer, Christian F., Slavin, Thomas P., Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Steinemann, Doris, Steinsnyder, Zoe, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thull, Darcy L., Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Trainer, Alison H., Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Vega, Ana, Vierstraete, Jeroen, Wagner, Gabriel, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Yadav, Siddhartha, Yang, Xin, Yannoukakos, Drakoulis, Zimbalatti, Dario, Offit, Kenneth, Thomassen, Mads, Couch, Fergus J., Schmutzler, Rita K., Simard, Jacques, Easton, Douglas F., Chenevix-Trench, Georgia, and Antoniou, Antonis C.
Abstract: Purpose We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks forBRCA1andBRCA2pathogenic variant carriers. Methods Retrospective cohort data on 18,935BRCA1and 12,339BRCA2female pathogenic variant carriers of European ancestry were available. Three versions of a 313 single-nucleotide polymorphism (SNP) BC PRS were evaluated based on whether they predict overall, estrogen receptor (ER)-negative, or ER-positive BC, and two PRS for overall or high-grade serous EOC. Associations were validated in a prospective cohort. Results The ER-negative PRS showed the strongest association with BC risk forBRCA1carriers (hazard ratio [HR] per standard deviation = 1.29 [95% CI 1.25-1.33],P = 3x10(-72)). ForBRCA2, the strongest association was with overall BC PRS (HR = 1.31 [95% CI 1.27-1.36],P = 7x10(-50)). HR estimates decreased significantly with age and there was evidence for differences in associations by predicted variant effects on protein expression. The HR estimates were smaller than general population estimates. The high-grade serous PRS yielded the strongest associations with EOC risk forBRCA1(HR = 1.32 [95% CI 1.25-1.40],P = 3x10(-22)) andBRCA2(HR = 1.44 [95% CI 1.30-1.60],P = 4x10(-12)) carriers. The associations in the prospective cohort were similar. Conclusion Population-based PRS are strongly associated with BC and EOC risks forBRCA1/2carriers and predict substantial absolute risk differences for women at PRS distribution extremes.
Published: 2020

227. Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer

Author: Muranen, Taru A., Khan, Sofia, Fagerholm, Rainer, Aittomaeki, Kristiina, Cunningham, Julie M., Dennis, Joe, Leslie, Goska, McGuffog, Lesley, Parsons, Michael T., Simard, Jacques, Slager, Susan, Soucy, Penny, Easton, Douglas F., Tischkowitz, Marc, Spurdle, Amanda B., Schmutzler, Rita K., Wappenschmidt, Barbara, Hahnen, Eric, Hooning, Maartje J., Singer, Christian F., Wagner, Gabriel, Thomassen, Mads, Pedersen, Inge Sokilde, Domchek, Susan M., Nathanson, Katherine L., Lazaro, Conxi, Rossing, Caroline Maria, Andrulis, Irene L., Teixeira, Manuel R., James, Paul, Garber, Judy, Weitzel, Jeffrey N., Jakubowska, Anna, Yannoukakos, Drakoulis, John, Esther M., Southey, Melissa C., Schmidt, Marjanka K., Antoniou, Antonis C., Chenevix-Trench, Georgia, Blomqvist, Carl, Nevanlinna, Heli, Muranen, Taru A., Khan, Sofia, Fagerholm, Rainer, Aittomaeki, Kristiina, Cunningham, Julie M., Dennis, Joe, Leslie, Goska, McGuffog, Lesley, Parsons, Michael T., Simard, Jacques, Slager, Susan, Soucy, Penny, Easton, Douglas F., Tischkowitz, Marc, Spurdle, Amanda B., Schmutzler, Rita K., Wappenschmidt, Barbara, Hahnen, Eric, Hooning, Maartje J., Singer, Christian F., Wagner, Gabriel, Thomassen, Mads, Pedersen, Inge Sokilde, Domchek, Susan M., Nathanson, Katherine L., Lazaro, Conxi, Rossing, Caroline Maria, Andrulis, Irene L., Teixeira, Manuel R., James, Paul, Garber, Judy, Weitzel, Jeffrey N., Jakubowska, Anna, Yannoukakos, Drakoulis, John, Esther M., Southey, Melissa C., Schmidt, Marjanka K., Antoniou, Antonis C., Chenevix-Trench, Georgia, Blomqvist, Carl, and Nevanlinna, Heli
Abstract: Germline genetic variation has been suggested to influence the survival of breast cancer patients independently of tumor pathology. We have studied survival associations of genetic variants in two etiologically unique groups of breast cancer patients, the carriers of germline pathogenic variants in BRCA1 or BRCA2 genes. We found that rs57025206 was significantly associated with the overall survival, predicting higher mortality of BRCA1 carrier patients with estrogen receptor-negative breast cancer, with a hazard ratio 4.37 (95% confidence interval 3.03-6.30, P=3.1x10(-9)). Multivariable analysis adjusted for tumor characteristics suggested that rs57025206 was an independent survival marker. In addition, our exploratory analyses suggest that the associations between genetic variants and breast cancer patient survival may depend on tumor biological subgroup and clinical patient characteristics.
Published: 2020

228. Fine mapping of low-density lipoprotein receptor gene by genetic linkage on chromosome 19p13.1-p13.3 and study of the founder effect of four French Canadian low-density lipoprotein receptor gene mutations

Author: Simard, Jacques, Morissette, Jean, Gaudet, Daniel, Vohl, Marie-Claude, Gagné, Claude, Després, Jean-Pierre, Couture, Patrick, Bergeron, Jean, Simard, Jacques, Morissette, Jean, Gaudet, Daniel, Vohl, Marie-Claude, Gagné, Claude, Després, Jean-Pierre, Couture, Patrick, and Bergeron, Jean
Abstract: Familial hypercholesterolemia (FH) is one of the most common autosomal codominant diseases. FH is caused by mutations in the low-density lipoprotein receptor (LDLR) gene and is characterized by raised plasma LDL-cholesterol, tendon xanthomas, and premature coronary heart disease. The frequency of FH among French Canadians in northeastern Québec is higher than in most other populations, 1:154 vs. 1:500 due to high prevalence of few recurrent mutations in the LDLR gene. In the French Canadian population, 11 mutations in the LDLR gene have been found to occur in geographically diverse areas and account for >90% of cases. We have first constructed a high-resolution genetic map to locate several highly polymorphic markers close to LDLR locus, thus providing the necessary tools to study the origin of the four most common mutations which account for ≈80% of our FH patients. We have then genotyped five markers (D19S413, D19S865, D19S221, D19S914, D19S586) in 102 heterozygotes (38 del>15kb; 36 W66G; 16 C646Y; 12 E207K), two compound heterozygotes (del>15kb/W66G; del>15kb/C646Y) and seven homozygotes (three del>15 kb; three W66G; one E207K) with FH unrelated to the first and second degree. We have found that patients bearing the same LDLR gene mutation carry a common haplotype at the LDLR locus although there is evidence for the early occurrence of a recombinational event between the LDLR and the D19S221 locus in the French Canadian patients bearing the W66G mutation. The fine mapping of LDLR gene close to several highly informative microsatellite markers provide fine mapping details of the LDLR region and additional tools for studies of association between plasma lipoprotein levels and LDLR gene.
Published: 2020

229. Rapid restriction fragment analysis for screening four point mutations of the low-density lipoprotein receptor gene in French Canadians

Author: Simard, Jacques, Labrie, Fernand, Moorjani, Sital, Lupien, Paul-J., Torres, Ana Lucia, Vohl, Marie-Claude, Gagné, Claude, Després, Jean-Pierre, Couture, Patrick, Simard, Jacques, Labrie, Fernand, Moorjani, Sital, Lupien, Paul-J., Torres, Ana Lucia, Vohl, Marie-Claude, Gagné, Claude, Després, Jean-Pierre, and Couture, Patrick
Abstract: Familial hypercholesterolemia (FH) has an estimated frequency of 1:154 among French Canadians in Northeastern Quebec, compared with 1:500 in most other populations. FH is caused by numerous mutations of the low-density lipoprotein (LDL) receptor gene, but only six well-characterized mutations are known to cause FH in French Canadians. High prevalence of the phenotype, along with a limited number of mutations in this population, provides a unique opportunity to study genotype-phenotype variation. Since the current methods for detection of point mutations in this population use complicated approaches, we report polymerase chain reaction (PCR)-based restriction fragment analysis to detect all four point mutations. This approach provides a rapid diagnosis and is suitable to screen large number of samples for studies in genetic epidemiology; it should be useful in identifying FH in other populations bearing the same mutations.
Published: 2020

230. Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians

Author: Simard, Jacques, Labrie, Fernand, Gagné, Claude, Lupien, Paul-J., Gaudet, Daniel, Torres, Ana Lucia, Vohl, Marie-Claude, Després, Jean-Pierre, Couture, Patrick, Moorjani, Sital, Simard, Jacques, Labrie, Fernand, Gagné, Claude, Lupien, Paul-J., Gaudet, Daniel, Torres, Ana Lucia, Vohl, Marie-Claude, Després, Jean-Pierre, Couture, Patrick, and Moorjani, Sital
Published: 2020

231. Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing heterozygous familial hypercholesterolemia among French Canadians

Author: Simard, Jacques, Moorjani, Sital, Labrie, Fernand, Lupien, Paul-J., Vohl, Marie-Claude, Torres, Ana Lucia, Després, Jean-Pierre, Gagné, Claude, Couture, Patrick, Simard, Jacques, Moorjani, Sital, Labrie, Fernand, Lupien, Paul-J., Vohl, Marie-Claude, Torres, Ana Lucia, Després, Jean-Pierre, Gagné, Claude, and Couture, Patrick
Published: 2020

232. Publisher Correction: Personalized early detection and prevention of breast cancer: ENVISION consensus statement.

Author: Pashayan, Nora, Pashayan, Nora, Antoniou, Antonis C, Ivanus, Urska, Esserman, Laura J, Easton, Douglas F, French, David, Sroczynski, Gaby, Hall, Per, Cuzick, Jack, Evans, D Gareth, Simard, Jacques, Garcia-Closas, Montserrat, Schmutzler, Rita, Wegwarth, Odette, Pharoah, Paul, Moorthie, Sowmiya, De Montgolfier, Sandrine, Baron, Camille, Herceg, Zdenko, Turnbull, Clare, Balleyguier, Corinne, Rossi, Paolo Giorgi, Wesseling, Jelle, Ritchie, David, Tischkowitz, Marc, Broeders, Mireille, Reisel, Dan, Metspalu, Andres, Callender, Thomas, de Koning, Harry, Devilee, Peter, Delaloge, Suzette, Schmidt, Marjanka K, Widschwendter, Martin, Pashayan, Nora, Pashayan, Nora, Antoniou, Antonis C, Ivanus, Urska, Esserman, Laura J, Easton, Douglas F, French, David, Sroczynski, Gaby, Hall, Per, Cuzick, Jack, Evans, D Gareth, Simard, Jacques, Garcia-Closas, Montserrat, Schmutzler, Rita, Wegwarth, Odette, Pharoah, Paul, Moorthie, Sowmiya, De Montgolfier, Sandrine, Baron, Camille, Herceg, Zdenko, Turnbull, Clare, Balleyguier, Corinne, Rossi, Paolo Giorgi, Wesseling, Jelle, Ritchie, David, Tischkowitz, Marc, Broeders, Mireille, Reisel, Dan, Metspalu, Andres, Callender, Thomas, de Koning, Harry, Devilee, Peter, Delaloge, Suzette, Schmidt, Marjanka K, and Widschwendter, Martin
Abstract: An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Published: 2020

233. Characterization of the Cancer Spectrum in Men with Germline BRCA1 and BRCA2 Pathogenic Variants:Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Author: Silvestri, Valentina, Leslie, Goska, Barnes, Daniel R., Agnarsson, Bjarni A., Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L., Barkardottir, Rosa B., Barroso, Alicia, Barrowdale, Daniel, Benitez, Javier, Bonanni, Bernardo, Borg, Ake, Buys, Saundra S., Caldés, Trinidad, Caligo, Maria A., Capalbo, Carlo, Campbell, Ian, Chung, Wendy K., Claes, Kathleen B.M., Colonna, Sarah V., Cortesi, Laura, Couch, Fergus J., De La Hoya, Miguel, Diez, Orland, Ding, Yuan Chun, Domchek, Susan, Easton, Douglas F., Ejlertsen, Bent, Engel, Christoph, Evans, D. Gareth, Feliubadalò, Lidia, Foretova, Lenka, Fostira, Florentia, Géczi, Lajos, Gerdes, Anne Marie, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Hahnen, Eric, Hogervorst, Frans B.L., Hopper, John L., Hulick, Peter J., Isaacs, Claudine, Izquierdo, Angel, James, Paul A., Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Joseph, Vijai, Konstantopoulou, Irene, Kurian, Allison W., Kwong, Ava, Landucci, Elisabetta, Lesueur, Fabienne, Loud, Jennifer T., Machackova, Eva, Mai, Phuong L., Majidzadeh-A, Keivan, Manoukian, Siranoush, Montagna, Marco, Moserle, Lidia, Mulligan, Anna Marie, Nathanson, Katherine L., Nevanlinna, Heli, Ngeow Yuen Ye, Joanne, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Papi, Laura, Park, Sue K., Pedersen, Inge Sokilde, Perez-Segura, Pedro, Petersen, Annabeth H., Pinto, Pedro, Porfirio, Berardino, Pujana, Miquel Angel, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad U., Rosenzweig, Barak, Rossing, Maria, Santamariña, Marta, Schmutzler, Rita K., Senter, Leigha, Simard, Jacques, Singer, Christian F., Solano, Angela R., Southey, Melissa C., Steele, Linda, Steinsnyder, Zoe, Stoppa-Lyonnet, Dominique, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo H., Terry, Mary Beth, Thomassen, Mads, Toland, Amanda E., Torres-Esquius, Sara, Tung, Nadine, Van Asperen, Christi J., Vega, Ana, Viel, Alessandra, Vierstraete, Jeroen, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wieme, Greet, Yoon, Sook Yee, Zorn, Kristin K., Mcguffog, Lesley, Parsons, Michael T., Hamann, Ute, Greene, Mark H., Kirk, Judy A., Neuhausen, Susan L., Rebbeck, Timothy R., Tischkowitz, Marc, Chenevix-Trench, Georgia, Antoniou, Antonis C., Friedman, Eitan, Ottini, Laura, Silvestri, Valentina, Leslie, Goska, Barnes, Daniel R., Agnarsson, Bjarni A., Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L., Barkardottir, Rosa B., Barroso, Alicia, Barrowdale, Daniel, Benitez, Javier, Bonanni, Bernardo, Borg, Ake, Buys, Saundra S., Caldés, Trinidad, Caligo, Maria A., Capalbo, Carlo, Campbell, Ian, Chung, Wendy K., Claes, Kathleen B.M., Colonna, Sarah V., Cortesi, Laura, Couch, Fergus J., De La Hoya, Miguel, Diez, Orland, Ding, Yuan Chun, Domchek, Susan, Easton, Douglas F., Ejlertsen, Bent, Engel, Christoph, Evans, D. Gareth, Feliubadalò, Lidia, Foretova, Lenka, Fostira, Florentia, Géczi, Lajos, Gerdes, Anne Marie, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Hahnen, Eric, Hogervorst, Frans B.L., Hopper, John L., Hulick, Peter J., Isaacs, Claudine, Izquierdo, Angel, James, Paul A., Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Joseph, Vijai, Konstantopoulou, Irene, Kurian, Allison W., Kwong, Ava, Landucci, Elisabetta, Lesueur, Fabienne, Loud, Jennifer T., Machackova, Eva, Mai, Phuong L., Majidzadeh-A, Keivan, Manoukian, Siranoush, Montagna, Marco, Moserle, Lidia, Mulligan, Anna Marie, Nathanson, Katherine L., Nevanlinna, Heli, Ngeow Yuen Ye, Joanne, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Papi, Laura, Park, Sue K., Pedersen, Inge Sokilde, Perez-Segura, Pedro, Petersen, Annabeth H., Pinto, Pedro, Porfirio, Berardino, Pujana, Miquel Angel, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad U., Rosenzweig, Barak, Rossing, Maria, Santamariña, Marta, Schmutzler, Rita K., Senter, Leigha, Simard, Jacques, Singer, Christian F., Solano, Angela R., Southey, Melissa C., Steele, Linda, Steinsnyder, Zoe, Stoppa-Lyonnet, Dominique, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo H., Terry, Mary Beth, Thomassen, Mads, Toland, Amanda E., Torres-Esquius, Sara, Tung, Nadine, Van Asperen, Christi J., Vega, Ana, Viel, Alessandra, Vierstraete, Jeroen, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wieme, Greet, Yoon, Sook Yee, Zorn, Kristin K., Mcguffog, Lesley, Parsons, Michael T., Hamann, Ute, Greene, Mark H., Kirk, Judy A., Neuhausen, Susan L., Rebbeck, Timothy R., Tischkowitz, Marc, Chenevix-Trench, Georgia, Antoniou, Antonis C., Friedman, Eitan, and Ottini, Laura
Abstract: Importance: The limited data on cancer phenotypes in men with germline BRCA1 and BRCA2 pathogenic variants (PVs) have hampered the development of evidence-based recommendations for early cancer detection and risk reduction in this population. Objective: To compare the cancer spectrum and frequencies between male BRCA1 and BRCA2 PV carriers. Design, Setting, and Participants: Retrospective cohort study of 6902 men, including 3651 BRCA1 and 3251 BRCA2 PV carriers, older than 18 years recruited from cancer genetics clinics from 1966 to 2017 by 53 study groups in 33 countries worldwide collaborating through the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Clinical data and pathologic characteristics were collected. Main Outcomes and Measures: BRCA1/2 status was the outcome in a logistic regression, and cancer diagnoses were the independent predictors. All odds ratios (ORs) were adjusted for age, country of origin, and calendar year of the first interview. Results: Among the 6902 men in the study (median [range] age, 51.6 [18-100] years), 1634 cancers were diagnosed in 1376 men (19.9%), the majority (922 of 1,376 [67%]) being BRCA2 PV carriers. Being affected by any cancer was associated with a higher probability of being a BRCA2, rather than a BRCA1, PV carrier (OR, 3.23; 95% CI, 2.81-3.70; P <.001), as well as developing 2 (OR, 7.97; 95% CI, 5.47-11.60; P <.001) and 3 (OR, 19.60; 95% CI, 4.64-82.89; P <.001) primary tumors. A higher frequency of breast (OR, 5.47; 95% CI, 4.06-7.37; P <.001) and prostate (OR, 1.39; 95% CI, 1.09-1.78; P =.008) cancers was associated with a higher probability of being a BRCA2 PV carrier. Among cancers other than breast and prostate, pancreatic cancer was associated with a higher probability (OR, 3.00; 95% CI, 1.55-5.81; P =.001) and colorectal cancer with a lower probability (OR, 0.47; 95% CI, 0.29-0.78; P =.003) of being a BRCA2 PV carrier. Conclusions and Relevance: Significant differences in the cancer sp
Published: 2020

234. Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers:Results from The BRCA1 and BRCA2 Cohort Consortium

Author: Li, Hongyan, Terry, Mary Beth, Antoniou, Antonis C, Phillips, Kelly-Anne, Kast, Karin, Mooij, Thea M, Engel, Christoph, Noguès, Catherine, Stoppa-Lyonnet, Dominique, Lasset, Christine, Berthet, Pascaline, Mari, Veronique, Caron, Olivier, Barrowdale, Daniel, Frost, Debra, Brewer, Carole, Evans, D Gareth, Izatt, Louise, Side, Lucy, Walker, Lisa, Tischkowitz, Marc, Rogers, Mark T, Porteous, Mary E, Snape, Katie, Meijers-Heijboer, Hanne E J, Gille, Johan J P, Blok, Marinus J, Hoogerbrugge, Nicoline, Daly, Mary B, Andrulis, Irene L, Buys, Saundra S, John, Esther M, McLachlan, Sue-Anne, Friedlander, Michael, Tan, Yen Y, Osorio, Ana, Caldes, Trinidad, Jakubowska, Anna, Simard, Jacques, Singer, Christian F, Olah, Edith, Navratilova, Marie, Foretova, Lenka, Gerdes, Anne-Marie, Roos-Blom, Marie-José, Arver, Brita, Olsson, Håkan, Schmutzler, Rita K, Hopper, John L, Milne, Roger L, Li, Hongyan, Terry, Mary Beth, Antoniou, Antonis C, Phillips, Kelly-Anne, Kast, Karin, Mooij, Thea M, Engel, Christoph, Noguès, Catherine, Stoppa-Lyonnet, Dominique, Lasset, Christine, Berthet, Pascaline, Mari, Veronique, Caron, Olivier, Barrowdale, Daniel, Frost, Debra, Brewer, Carole, Evans, D Gareth, Izatt, Louise, Side, Lucy, Walker, Lisa, Tischkowitz, Marc, Rogers, Mark T, Porteous, Mary E, Snape, Katie, Meijers-Heijboer, Hanne E J, Gille, Johan J P, Blok, Marinus J, Hoogerbrugge, Nicoline, Daly, Mary B, Andrulis, Irene L, Buys, Saundra S, John, Esther M, McLachlan, Sue-Anne, Friedlander, Michael, Tan, Yen Y, Osorio, Ana, Caldes, Trinidad, Jakubowska, Anna, Simard, Jacques, Singer, Christian F, Olah, Edith, Navratilova, Marie, Foretova, Lenka, Gerdes, Anne-Marie, Roos-Blom, Marie-José, Arver, Brita, Olsson, Håkan, Schmutzler, Rita K, Hopper, John L, and Milne, Roger L
Abstract: BACKGROUND: Tobacco smoking and alcohol consumption have been intensively studied in the general population to assess their effects on the risk of breast cancer, but very few studies have examined these effects in BRCA1 and BRCA2 mutation carriers. Given the high breast cancer risk for mutation carriers and the importance of BRCA1 and BRCA2 in DNA repair, better evidence on the associations of these lifestyle factors with breast cancer risk is essential.METHODS: Using a large international pooled cohort of BRCA1 and BRCA2 mutation carriers, we conducted retrospective (5,707 BRCA1 mutation carriers and 3,525 BRCA2 mutation carriers) and prospective (2,276 BRCA1 mutation carriers and 1,610 BRCA2 mutation carriers) analyses of alcohol and tobacco consumption using Cox proportional hazards models.RESULTS: For both BRCA1 and BRCA2 mutation carriers, none of the smoking-related variables was associated with breast cancer risk, except smoking for more than 5 years before a first full-term pregnancy (FFTP) when compared with parous women who never smoked. For BRCA1 mutation carriers, the HR from retrospective analysis (HRR) was 1.19 [95% confidence interval (CI), 1.02-1.39] and the HR from prospective analysis (HRP) was 1.36 (95% CI, 0.99-1.87). For BRCA2 mutation carriers, smoking for more than 5 years before an FFTP showed an association of a similar magnitude, but the confidence limits were wider (HRR = 1.25; 95% CI, 1.01-1.55 and HRP = 1.30; 95% CI, 0.83-2.01). For both carrier groups, alcohol consumption was not associated with breast cancer risk.CONCLUSIONS: The finding that smoking during the prereproductive years increases breast cancer risk for mutation carriers warrants further investigation.IMPACT: This is the largest prospective study of BRCA mutation carriers to assess these important risk factors.
Published: 2020

235. Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk:an international prospective cohort of BRCA1 and BRCA2 mutation carriers

Author: Mavaddat, Nasim, Antoniou, Antonis C, Mooij, Thea M, Hooning, Maartje J, Heemskerk-Gerritsen, Bernadette A, Noguès, Catherine, Gauthier-Villars, Marion, Caron, Olivier, Gesta, Paul, Pujol, Pascal, Lortholary, Alain, Barrowdale, Daniel, Frost, Debra, Evans, D Gareth, Izatt, Louise, Adlard, Julian, Eeles, Ros, Brewer, Carole, Tischkowitz, Marc, Henderson, Alex, Cook, Jackie, Eccles, Diana, van Engelen, Klaartje, Mourits, Marian J E, Ausems, Margreet G E M, Koppert, Linetta B, Hopper, John L, John, Esther M, Chung, Wendy K, Andrulis, Irene L, Daly, Mary B, Buys, Saundra S, Benitez, Javier, Caldes, Trinidad, Jakubowska, Anna, Simard, Jacques, Singer, Christian F, Tan, Yen, Olah, Edith, Navratilova, Marie, Foretova, Lenka, Gerdes, Anne-Marie, Roos-Blom, Marie-José, Van Leeuwen, Flora E, Arver, Brita, Olsson, Håkan, Schmutzler, Rita K, Engel, Christoph, Kast, Karin, Phillips, Kelly-Anne, Mavaddat, Nasim, Antoniou, Antonis C, Mooij, Thea M, Hooning, Maartje J, Heemskerk-Gerritsen, Bernadette A, Noguès, Catherine, Gauthier-Villars, Marion, Caron, Olivier, Gesta, Paul, Pujol, Pascal, Lortholary, Alain, Barrowdale, Daniel, Frost, Debra, Evans, D Gareth, Izatt, Louise, Adlard, Julian, Eeles, Ros, Brewer, Carole, Tischkowitz, Marc, Henderson, Alex, Cook, Jackie, Eccles, Diana, van Engelen, Klaartje, Mourits, Marian J E, Ausems, Margreet G E M, Koppert, Linetta B, Hopper, John L, John, Esther M, Chung, Wendy K, Andrulis, Irene L, Daly, Mary B, Buys, Saundra S, Benitez, Javier, Caldes, Trinidad, Jakubowska, Anna, Simard, Jacques, Singer, Christian F, Tan, Yen, Olah, Edith, Navratilova, Marie, Foretova, Lenka, Gerdes, Anne-Marie, Roos-Blom, Marie-José, Van Leeuwen, Flora E, Arver, Brita, Olsson, Håkan, Schmutzler, Rita K, Engel, Christoph, Kast, Karin, and Phillips, Kelly-Anne
Abstract: BACKGROUND: The effect of risk-reducing salpingo-oophorectomy (RRSO) on breast cancer risk for BRCA1 and BRCA2 mutation carriers is uncertain. Retrospective analyses have suggested a protective effect but may be substantially biased. Prospective studies have had limited power, particularly for BRCA2 mutation carriers. Further, previous studies have not considered the effect of RRSO in the context of natural menopause.METHODS: A multi-centre prospective cohort of 2272 BRCA1 and 1605 BRCA2 mutation carriers was followed for a mean of 5.4 and 4.9 years, respectively; 426 women developed incident breast cancer. RRSO was modelled as a time-dependent covariate in Cox regression, and its effect assessed in premenopausal and postmenopausal women.RESULTS: There was no association between RRSO and breast cancer for BRCA1 (HR = 1.23; 95% CI 0.94-1.61) or BRCA2 (HR = 0.88; 95% CI 0.62-1.24) mutation carriers. For BRCA2 mutation carriers, HRs were 0.68 (95% CI 0.40-1.15) and 1.07 (95% CI 0.69-1.64) for RRSO carried out before or after age 45 years, respectively. The HR for BRCA2 mutation carriers decreased with increasing time since RRSO (HR = 0.51; 95% CI 0.26-0.99 for 5 years or longer after RRSO). Estimates for premenopausal women were similar.CONCLUSION: We found no evidence that RRSO reduces breast cancer risk for BRCA1 mutation carriers. A potentially beneficial effect for BRCA2 mutation carriers was observed, particularly after 5 years following RRSO. These results may inform counselling and management of carriers with respect to RRSO.
Published: 2020

236. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Author: Patel, Vivek L, Busch, Evan L, Friebel, Tara M, Cronin, Angel, Leslie, Goska, McGuffog, Lesley, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Artioli, Grazia, Arver, Brita, Auber, Bernd, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barnes, Daniel R, Barroso, Alicia, Barrowdale, Daniel, Belotti, Muriel, Benitez, Javier, Bertelsen, Birgitte, Blok, Marinus J, Bodrogi, Istvan, Bonadona, Valérie, Bonanni, Bernardo, Bondavalli, Davide, Boonen, Susanne E, Borde, Julika, Borg, Ake, Bradbury, Angela R, Brady, Angela, Brewer, Carole, Brunet, Joan, Buecher, Bruno, Buys, Saundra S, Cabezas-Camarero, Santiago, Caldés, 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, Collaborators, Gemo Study, Collaborators, Embrace, Cook, Jackie, Cortesi, Laura, Couch, Fergus J, Daly, Mary B, Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, Puppa, Lara Della, Dennis, Joe, Díez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M, Donaldson, Alan, Dworniczak, Bernd, Easton, Douglas F, Eccles, Diana M, Eeles, Rosalind A, Ehrencrona, Hans, Ejlertsen, Bent, Engel, Christoph, Evans, D Gareth, Faivre, Laurence, Faust, Ulrike, Feliubadaló, Lídia, Foretova, Lenka, Fostira, Florentia, Fountzilas, George, Frost, Debra, García-Barberán, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Géczi, Lajos, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, 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, Investigators, KConFab, Investigators, Hebon, Izatt, Louise, Jager, Agnes, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, 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, 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, Lopez-Fernández, Adria, Lopez-Perolio, Irene, Lorca, Victor, Loud, Jennifer T, Ma, Edmond S K, Mai, Phuong L, Manoukian, Siranoush, Mari, Veronique, Martin, Lynn, Matricardi, Laura, 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, Ott, Claus-Eric, Palli, Domenico, Park, Sue K, Parsons, Michael T, Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Pérez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth Høgh, Porteous, Mary E, Pujana, Miguel Angel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rashid, Muhammad U, Rhiem, Kerstin, Rizzolo, Piera, Robson, Mark E, Rookus, Matti A, Rossing, Caroline M, Ruddy, Kathryn J, Santos, Catarina, Saule, Claire, Scarpitta, Rosa, Schmutzler, Rita K, Schuster, Hélène, Senter, Leigha, Seynaeve, Caroline M, Shah, Payal D, Sharma, Priyanka, Shin, Vivian Y, Silvestri, Valentina, Simard, Jacques, Singer, Christian F, Skytte, Anne-Bine, Snape, Katie, Solano, Angela R, Soucy, Penny, Southey, Melissa C, Spurdle, Amanda B, Steele, Linda, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Stradella, Agostina, Sunde, Lone, 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, Vierstraete, 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, Antoniou, Antonis C, Neuhausen, Susan L, Ottini, Laura, Nielsen, Henriette Roed, Rebbeck, Timothy R, Patel, Vivek L, Busch, Evan L, Friebel, Tara M, Cronin, Angel, Leslie, Goska, McGuffog, Lesley, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Artioli, Grazia, Arver, Brita, Auber, Bernd, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barnes, Daniel R, Barroso, Alicia, Barrowdale, Daniel, Belotti, Muriel, Benitez, Javier, Bertelsen, Birgitte, Blok, Marinus J, Bodrogi, Istvan, Bonadona, Valérie, Bonanni, Bernardo, Bondavalli, Davide, Boonen, Susanne E, Borde, Julika, Borg, Ake, Bradbury, Angela R, Brady, Angela, Brewer, Carole, Brunet, Joan, Buecher, Bruno, Buys, Saundra S, Cabezas-Camarero, Santiago, Caldés, 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, Collaborators, Gemo Study, Collaborators, Embrace, Cook, Jackie, Cortesi, Laura, Couch, Fergus J, Daly, Mary B, Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, Puppa, Lara Della, Dennis, Joe, Díez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M, Donaldson, Alan, Dworniczak, Bernd, Easton, Douglas F, Eccles, Diana M, Eeles, Rosalind A, Ehrencrona, Hans, Ejlertsen, Bent, Engel, Christoph, Evans, D Gareth, Faivre, Laurence, Faust, Ulrike, Feliubadaló, Lídia, Foretova, Lenka, Fostira, Florentia, Fountzilas, George, Frost, Debra, García-Barberán, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Géczi, Lajos, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, 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, Investigators, KConFab, Investigators, Hebon, Izatt, Louise, Jager, Agnes, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, 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, 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, Lopez-Fernández, Adria, Lopez-Perolio, Irene, Lorca, Victor, Loud, Jennifer T, Ma, Edmond S K, Mai, Phuong L, Manoukian, Siranoush, Mari, Veronique, Martin, Lynn, Matricardi, Laura, 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, Ott, Claus-Eric, Palli, Domenico, Park, Sue K, Parsons, Michael T, Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Pérez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth Høgh, Porteous, Mary E, Pujana, Miguel Angel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rashid, Muhammad U, Rhiem, Kerstin, Rizzolo, Piera, Robson, Mark E, Rookus, Matti A, Rossing, Caroline M, Ruddy, Kathryn J, Santos, Catarina, Saule, Claire, Scarpitta, Rosa, Schmutzler, Rita K, Schuster, Hélène, Senter, Leigha, Seynaeve, Caroline M, Shah, Payal D, Sharma, Priyanka, Shin, Vivian Y, Silvestri, Valentina, Simard, Jacques, Singer, Christian F, Skytte, Anne-Bine, Snape, Katie, Solano, Angela R, Soucy, Penny, Southey, Melissa C, Spurdle, Amanda B, Steele, Linda, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Stradella, Agostina, Sunde, Lone, 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, Vierstraete, 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, Antoniou, Antonis C, Neuhausen, Susan L, Ottini, Laura, Nielsen, Henriette Roed, and Rebbeck, Timothy R
Abstract: Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in BRCA1/2 were associated with risk of overall prostate cancer or high grade (Gleason 8+) prostate cancer using an international sample of 65 BRCA1 and 171 BRCA2 male PSV carriers with prostate cancer, and 3,388 BRCA1 and 2,880 BRCA2 male PSV carriers without prostate cancer. PSVs in the 3' region of BRCA2 (c.7914+) were significantly associated with elevated risk of prostate cancer compared with reference bin c.1001-c.7913 [HR = 1.78; 95% confidence interval (CI), 1.25-2.52; P = 0.001], as well as elevated risk of Gleason 8+ prostate cancer (HR = 3.11; 95% CI, 1.63-5.95; P = 0.001). c.756-c.1000 was also associated with elevated prostate cancer risk (HR = 2.83; 95% CI, 1.71-4.68; P = 0.00004) and elevated risk of Gleason 8+ prostate cancer (HR = 4.95; 95% CI, 2.12-11.54; P = 0.0002). No genotype-phenotype associations were detected for PSVs in BRCA1. These results demonstrate that specific BRCA2 PSVs may be associated with elevated risk of developing aggressive prostate cancer. SIGNIFICANCE: Aggressive prostate cancer risk in BRCA2 mutation carriers may vary according to the specific BRCA2 mutation inherited by the at-risk individual.
Published: 2020

237. Alcohol consumption, cigarette smoking, and risk of breast cancer for BRCA1 and BRCA2 mutation carriers: results from The BRCA1 and BRCA2 Cohort Consortium

Author: Terry, Mary Beth, Noguès, Catherine, Barrowdale, Daniel, Frost, Debra, Brewer, Carole, Evans, D. Gareth, Izatt, Louise, Side, Lucy, Walker, Lisa, Tischkowitz, Marc, Rogers, Mark, Porteous, Mary, Meijers-Heijboer, Hanne E.J., Gille, Johan JP, Blok, Marinus, Hoogerbrugge, Nicoline, Daly, Mary, Andrulis, Irene, Buys, Saundra, John, Esther, McLachlan, Sue-Anne, Friedlander, Michael, Tan, Yen, Osorio, Ana, Caldés, Trinidad, Jakubowska, Anna, Simard, Jacques, Singer, Christian, Olah, Edith, Navratilova, Marie, Foretova, Lenka, Gerdes, Anne-Marie, Roos-Blom, Marie-José, Arver, Brita, Olsson, Håkan, Schmutzler, Rita, Hopper, John, Milne, Roger, Easton, Douglas, Van Leeuwen, Flora, Rookus, Matti, Andrieu, Nadine, Goldgar, David, Huntsman Cancer Institute [Salt Lake City], University of Utah, Laboratoire d'Oncogénétique, CRLCC René Huguenin, Centre for Cancer Genetic Epidemiology, University of Cambridge [UK] (CAM), Department of Clinical Genetics, Royal Devon & Exeter Hospital, Genetic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre, University of Manchester, Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, Department of Clinical Genetics, The Churchill, Oxford, Oxford Regional Genetics Service [Oxford, UK], Churchill Hospital Oxford Centre for Haematology, Department of Genetics, Portuguese Oncology Institute, Department of Computer Science [Colorado State University], Colorado State University [Fort Collins] (CSU), West General Hospital, VU University Medical Center [Amsterdam], University Hospital Maastricht, Department of Human Genetics, Radboud University Medical Center [Nijmegen], Division of Population Science, Fox Chase Cancer Center, Department of Laboratory Medicine and Pathobiology, University of Toronto, Department of Internal Medicine, Huntsman Cancer Institute, Department of Epidemiology, Cancer Prevention Institute of California, St. Vincent's Hospital, Sydney, Dept of Medical Oncology, Division of Medicine, University of New South Wales [Sydney] (UNSW)-Prince of Wales Hospital Randwick, Medical University of Vienna, Human Genetics Group, Spanish National Cancer Research Centre, Molecular Oncology Laboratory, Hospital Clínico San Carlos, Department of Genetics and Pathology, Pomeranian Medical University-International Hereditary Cancer Centre, Laboratoire de Génomique des Cancers, Laval University [Québec], Division of Special Gynecology, Medizinische Universität Wien = Medical University of Vienna-Department of OB/GYN, National Institute of Oncology, Masaryk Memorial Cancer Institute (RECAMO), Odense University Hospital, Netherlands Cancer Institute (NKI), Antoni van Leeuwenhoek Hospital, Radiumhemmet, Karolinska University Hospital [Stockholm], Department of Oncology, Lund University Hospital, Division of Molecular Gyneco-Oncology, Department of Gynaecology and Obstetrics, Clinical Center Un, Centre for MEGA Epidemiology, The University of Melbourne, Victoria, Australia, Cancer Epidemiology Centre, Cancer Council Victoria, Centre for Cancer Genetic Epidemiology [Cambridge], Department of Oncology-University of Cambridge [UK] (CAM), Departments of Epidemiology and Molecular Pathology, The Netherlands Cancer Institute, Netherlands Cancer Institute, Innovation et Développement dans l'Agriculture et l'Agro-alimentaire (Innovation), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Centre national d'études agronomiques des régions chaudes (CNEARC)-Institut National de la Recherche Agronomique (INRA)-Centre international d'études supérieures en sciences agronomiques (Montpellier SupAgro)-Centre International de Hautes Etudes Agronomiques Méditerranéennes - Institut Agronomique Méditerranéen de Montpellier (CIHEAM-IAMM), Centre International de Hautes Études Agronomiques Méditerranéennes (CIHEAM)-Centre International de Hautes Études Agronomiques Méditerranéennes (CIHEAM)-Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro), Department of Dermatology [Salt Lake City, UT, USA], University of Utah School of Medicine [Salt Lake City], This work was supported by grants to kConFab and the kConFab Follow-Up Study from Cancer Australia (809195, 1100868), the Australian National Breast Cancer Foundation (IF 17), the National Health and Medical Research Council (454508, 288704, 145684), the National Institute of Health U.S.A. (1RO1CA159868), the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. Kelly Phillips is an Australian National Breast Cancer Foundation fellow.Lenka Foretova was supported by MH CZ - DRO (MMCI, 00209805) and by MEYS - NPS I- LO1413 to LF, MN. Edith Olah and The Hungarian Breast and Ovarian Cancer Study was supported by Hungarian Research Grants KTIA-OTKA CK-80745, NKFI OTKA K-112228 and the Norwegian EEA Financial Mechanism HU0115/NA/2008-3/ÖP-9. Hakan Olsson and Lund-BRCA collaborators are supported by the Swedish Cancer Society, Lund Hospital Funds, and European Research Council Advanced Grant ERC-2011-294576. Stockholm-BRCA collaborators are supported by the Swedish Cancer Society., Medizinische Universität Wien = Medical University of Vienna, Université Laval [Québec] (ULaval), Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Curie [Paris], MINES ParisTech - École nationale supérieure des mines de Paris, and Université Paris sciences et lettres (PSL)
Subjects: breast cancer, endocrine system diseases, alcohol, cigarette smoking, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, skin and connective tissue diseases, BRCA1, BRCA2
Abstract: International audience; BACKGROUND:Tobacco smoking and alcohol consumption have been intensively studied in the general population to assess their effects on the risk of breast cancer (BC), but very few studies have examined these effects in BRCA1 and BRCA2 mutation carriers. Given the high BC risk for mutation carriers and the importance of BRCA1 and BRCA2 in DNA repair, better evidence on the associations of these lifestyle factors with BC risk is essential.METHODS:Using a large international pooled cohort of BRCA1 and BRCA2 mutation carriers, we conducted retrospective (5,707 BRCA1 mutation carriers; 3,525 BRCA2 mutation carriers) and prospective (2,276 BRCA1 mutation carriers; 1,610 BRCA2 mutation carriers) analyses of alcohol and tobacco consumption using Cox proportional hazards models.RESULTS:For both BRCA1 and BRCA2 mutation carriers, none of the smoking-related variables was associated with BC risk, except smoking for more than five years before a first full-term pregnancy (FFTP) when compared to parous women who never smoked. For BRCA1 mutation carriers, the HR from retrospective analysis (HRR) was 1.19 (95%CI:1.02,1.39) and the HR from prospective analysis (HRP) was 1.36 (95%CI:0.99,1.87). For BRCA2 mutation carriers, smoking for more than five years before a FFTP showed an association of a similar magnitude, but the confidence limits were wider (HRR=1.25,95%CI:1.01,1.55 and HRP=1.30,95%CI:0.83,2.01). For both carrier groups, alcohol consumption was not associated with BC risk.CONCLUSIONS:The finding that smoking during the pre-reproductive years increases BC risk for mutation carriers warrants further investigation.IMPACT:This is the largest prospective study of BRCA mutation carriers to assess these important risk factors.
Published: 2019

238. Clinical Management Recommendations for Surveillance and Risk-Reduction Strategies for Hereditary Breast and Ovarian Cancer Among Individuals Carrying a Deleterious BRCA1 or BRCA2 Mutation

Author: Horsman, Doug, Wilson, Brenda J., Avard, Denise, Meschino, Wendy S., Kim Sing, Charmaine, Plante, Marie, Eisen, Andrea, Howley, Heather E., and Simard, Jacques
Published: 2007
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239. Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families

Author: Vézina, Hélène, Durocher, Francine, Dumont, Martine, Houde, Louis, Szabo, Csilla, Tranchant, Martine, Chiquette, Jocelyne, Plante, Marie, Laframboise, Rachel, Lépine, Jean, Nevanlinna, Heli, Stoppa-Lyonnet, Dominique, Goldgar, David, Bridge, Peter, Simard, Jacques, BCLC Haplotype Group, and INHERIT BRCAs
Published: 2005
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240. Using the Impact of Event Scale to evaluate distress in the context of genetic testing for breast cancer susceptibility

Author: Dorval, Michel, Drolet, Melanie, LeBlanc, Melanie, Maunsell, Elizabeth, Dugas, Michel J., and Simard, Jacques
Subjects: Breast cancer -- Diagnosis, Genetic screening -- Research, Genetic screening -- Influence, Mental distress (Law) -- Research, Psychology and mental health
Abstract: The data obtained with two forms of the impact of Event Scale were compared, one referring to a BRCA1/2 test result (IES-T) and another to cancer (IES-C). The sample consisted of 272 women with a family history suggestive of a BRCA1/2 mutation who underwent genetic testing and received results: noncarrier, carrier, or inconclusive. Globally, mean scores on the IES-C form were higher than those obtained on the IES-T form. Among carriers of a BRCA1/2 mutation, mean scores on the two forms were similar and agreement was good, as measured by the in traclass correlation coefficient (.83; 95% 95% CI = .72, .91). Agreement between the forms was poor to fair among noncarriers (ICC = .38; CI = .15, .57) and women with an inconclusive result (ICC = .40; 95% CI = .26, .52). Having had cancer increased total scores but had little influence on agreement between scores on forms. These findings highlight the importance of carefully selecting the form of the Impact of Event Scale in the context of genetic testing for breast cancer susceptibility.
Published: 2006

241. Women’s Views on Multifactorial Breast Cancer Risk Assessment and Risk-Stratified Screening: A Population-Based Survey from Four Provinces in Canada

Author: Mbuya Bienge, Cynthia, primary, Pashayan, Nora, additional, Brooks, Jennifer, additional, Dorval, Michel, additional, Chiquette, Jocelyne, additional, Eloy, Laurence, additional, Turgeon, Annie, additional, Lambert-Côté, Laurence, additional, Paquette, Jean-Sébastien, additional, Lévesque, Emmanuelle, additional, Hagan, Julie, additional, Walker, Meghan, additional, Lapointe, Julie, additional, Dalpé, Gratien, additional, Granados Moreno, Palmira, additional, Blackmore, Kristina, additional, Wolfson, Michael, additional, Joly, Yann, additional, Broeders, Mireille, additional, Knoppers, Bartha, additional, Chiarelli, Anna, additional, Simard, Jacques, additional, and Nabi, Hermann, additional
Published: 2021
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242. A combined genomewide linkage scan of 1,233 families for prostate cancer-susceptibility genes conducted by the International Consortium for Prostate Cancer Genetics

Author: Xu, Jianfeng, Dimitrov, Latchezar, Chang, Bao-Li, Adams, Tamara S., Turner, Aubrey R., Meyers, Deborah A., Eeles, Rosalind A., Easton, Douglas F., Foulkes, William D., Simard, Jacques, Giles, Graham G., Hopper, John L., Mahle, Lovise, Moller, Pal, Bishop, Tim, Evans, Chris, Edwards, Steve, Meitz, Julia, Bullock, Sarah, Hope, Questa, Hsieh, Chih-lin, Halpern, Jerry, Balise, Raymond N., Oakley-Girvan, Ingrid, Whittemore, Alice S., Ewing, Charles M., Gielzak, Marta, Isaacs, Sarah D., Walsh, Patrick C., Wiley, Kathleen E., Isaacs, William B., Thibodeau, Stephen N., McDonnell, Shannon K., Cunningham, Julie M., Zarfas, Katherine E., Hebbring, Scott, Schaid, Daniel J., Friedrichsen, Danielle M., Deutsch, Kerry, Kolb, Suzanne, Badzioch, Michael, Jarvik, Gail P., Janer, Marta, Hood, Leroy, Ostrander, Elaine A., Stanford, Janet L., Lange, Ethan M., Beebe-Dimmer, Jennifer L., Mohai, Caroline E., Cooney, Kathleen A., Ikonen, Tarja, Baffoe-Bonnie, Agnes, Fredriksson, Henna, Matikainen, Mika P., Tammela, Teuvo LJ, Bailey-Wilson, Joan, Schleutker, Johanna, Maier, Christiane, Herkommer, Kathleen, Hoegel, Josef J., Vogel, Walther, Paiss, Thomas, Wiklund, Fredrik, Emanuelsson, Monica, Stenman, Elisabeth, Jonsson, Bjorn-Anders, Gronberg, Henrik, Camp, Nicola J., Farnham, James, Cannon-Albright, Lisa A., and Seminara, Daniela
Subjects: Prostate cancer -- Genetic aspects, Human genetics -- Research, Biological sciences
Published: 2005

243. Genomic organization and expression of the mouse Brca2 gene

Author: Callens, Nathalie, Dumont, Martine, Begue, Agnès, Lint, Carine, Baert, Jean-Luc, Simard, Jacques, and Launoit, Yvan
Published: 2002
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244. Influence of the family cluster effect on psychosocial variables in families undergoing BRCA1/2 genetic testing for cancer susceptibility

Author: Lapointe, Julie, Abdous, Belkacem, Camden, Stéphanie, Bouchard, Karine, Goldgar, David, Simard, Jacques, and Dorval, Michel
Published: 2012
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245. Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

Author: Cox, David G., Simard, Jacques, Sinnett, Daniel, Hamdi, Yosr, Soucy, Penny, Ouimet, Manon, Barjhoux, Laure, Verny-Pierre, Carole, McGuffog, Lesley, Healey, Sue, Szabo, Csilla, Greene, Mark H., Mai, Phuong L., Andrulis, Irene L., Thomassen, Mads, Gerdes, Anne-Marie, Caligo, Maria A., Friedman, Eitan, Laitman, Yael, Kaufman, Bella, Paluch, Shani S., Borg, Åke, Karlsson, Per, Stenmark Askmalm, Marie, Barbany Bustinza, Gisela, Nathanson, Katherine L., Domchek, Susan M., Rebbeck, Timothy R., Benítez, Javier, Hamann, Ute, Rookus, Matti A., van den Ouweland, Ans M.W., Ausems, Margreet G.E.M., Aalfs, Cora M., van Asperen, Christi J., Devilee, Peter, Gille, Hans J.J.P., Peock, Susan, Frost, Debra, Evans, D. Gareth, Eeles, Ros, Izatt, Louise, Adlard, Julian, Paterson, Joan, Eason, Jacqueline, Godwin, Andrew K., Remon, Marie-Alice, Moncoutier, Virginie, Gauthier-Villars, Marion, Lasset, Christine, Giraud, Sophie, Hardouin, Agnès, Berthet, Pascaline, Sobol, Hagay, Eisinger, François, Bressac de Paillerets, Brigitte, Caron, Olivier, Delnatte, Capucine, Goldgar, David, Miron, Alex, Ozcelik, Hilmi, Buys, Saundra, Southey, Melissa C., Terry, Mary Beth, Singer, Christian F., Dressler, Anne-Catharina, Tea, Muy-Kheng, Hansen, Thomas V.O., Johannsson, Oskar, Piedmonte, Marion, Rodriguez, Gustavo C., Basil, Jack B., Blank, Stephanie, Toland, Amanda E., Montagna, Marco, Isaacs, Claudine, Blanco, Ignacio, Gayther, Simon A., Moysich, Kirsten B., Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Gadzicki, Dorothea, Fiebig, Britta, Caldes, Trinidad, Laframboise, Rachel, Nevanlinna, Heli, Chen, Xiaoqing, Beesley, Jonathan, Spurdle, Amanda B., Neuhausen, Susan L., Ding, Yuan C., Couch, Fergus J., Wang, Xianshu, Peterlongo, Paolo, Manoukian, Siranoush, Bernard, Loris, Radice, Paolo, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, and Sinilnikova, Olga M.
Published: 2011
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246. Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

Author: Antoniou, Antonis C, Kartsonaki, Christiana, Sinilnikova, Olga M., Soucy, Penny, McGuffog, Lesley, Healey, Sue, Lee, Andrew, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Barile, Monica, Pensotti, Valeria, Pasini, Barbara, Dolcetti, Riccardo, Giannini, Giuseppe, Laura Putignano, Anna, Varesco, Liliana, Radice, Paolo, Mai, Phuong L., Greene, Mark H., Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Thomassen, Mads, Gerdes, Anne-Marie, Kruse, Torben A., Birk Jensen, Uffe, Crüger, Dorthe G., Caligo, Maria A., Laitman, Yael, Milgrom, Roni, Kaufman, Bella, Paluch-Shimon, Shani, Friedman, Eitan, Loman, Niklas, Harbst, Katja, Lindblom, Annika, Arver, Brita, Ehrencrona, Hans, Melin, Beatrice, Nathanson, Katherine L., Domchek, Susan M., Rebbeck, Timothy, Jakubowska, Ania, Lubinski, Jan, Gronwald, Jacek, Huzarski, Tomasz, Byrski, Tomasz, Cybulski, Cezary, Gorski, Bohdan, Osorio, Ana, Ramón y Cajal, Teresa, Fostira, Florentia, Andrés, Raquel, Benitez, Javier, Hamann, Ute, Hogervorst, Frans B., Rookus, Matti A., Hooning, Maartje J., Nelen, Marcel R., van der Luijt, Rob B., van Os, Theo A.M., van Asperen, Christi J., Devilee, Peter, Meijers-Heijboer, Hanne E.J., Gómez Garcia, Encarna B., Peock, Susan, Cook, Margaret, Frost, Debra, Platte, Radka, Leyland, Jean, Gareth Evans, D., Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Eccles, Diana, Ong, Kai-ren, Cook, Jackie, Douglas, Fiona, Paterson, Joan, John Kennedy, M., Miedzybrodzka, Zosia, Godwin, Andrew, Stoppa-Lyonnet, Dominique, Buecher, Bruno, Belotti, Muriel, Tirapo, Carole, Mazoyer, Sylvie, Barjhoux, Laure, Lasset, Christine, Leroux, Dominique, Faivre, Laurence, Bronner, Myriam, Prieur, Fabienne, Nogues, Catherine, Rouleau, Etienne, Pujol, Pascal, Coupier, Isabelle, Frénay, Marc, Hopper, John L., Daly, Mary B., Terry, Mary B., John, Esther M., Buys, Saundra S., Yassin, Yosuf, Miron, Alexander, Goldgar, David, Singer, Christian F., Tea, Muy-Kheng, Pfeiler, Georg, Catharina Dressler, Anne, Hansen, Thomas v.O., Jønson, Lars, Ejlertsen, Bent, Bjork Barkardottir, Rosa, Kirchhoff, Tomas, Offit, Kenneth, Piedmonte, Marion, Rodriguez, Gustavo, Small, Laurie, Boggess, John, Blank, Stephanie, Basil, Jack, Azodi, Masoud, Ewart Toland, Amanda, Montagna, Marco, Tognazzo, Silvia, Agata, Simona, Imyanitov, Evgeny, Janavicius, Ramunas, Lazaro, Conxi, Blanco, Ignacio, Pharoah, Paul D.P., Sucheston, Lara, Karlan, Beth Y., Walsh, Christine S., Olah, Edith, Bozsik, Aniko, Teo, Soo-Hwang, Seldon, Joyce L., Beattie, Mary S., van Rensburg, Elizabeth J., Sluiter, Michelle D., Diez, Orland, Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Varon-Mateeva, Raymonda, Kast, Karin, Deissler, Helmut, Niederacher, Dieter, Arnold, Norbert, Gadzicki, Dorothea, Schönbuchner, Ines, Caldes, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Dumont, Martine, Chiquette, Jocelyne, Tischkowitz, Marc, Chen, Xiaoqing, Beesley, Jonathan, Spurdle, Amanda B., Neuhausen, Susan L., Chun Ding, Yuan, Fredericksen, Zachary, Wang, Xianshu, Pankratz, Vernon S., Couch, Fergus, Simard, Jacques, Easton, Douglas F., and Chenevix-Trench, Georgia
Published: 2011
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247. The CYP17A1 -34T > C polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers

Author: Kaufman, Bella, Laitman, Yael, Ziv, Elad, Hamann, Ute, Torres, Diana, Lahad, Ephrat Levy, Beeri, Rachel, Renbaum, Paul, Jakubowska, Anna, Lubinski, Jan, Huzarski, Tomasz, Tołoczko-Grabarek, Aleksandra, Jaworska, Katarzyna, Durda, Katarzyna, Sprudle, Amanda B., Chenevix-Trench, Georgia, Simard, Jacques, Easton, Douglas F., Antonis, Antoniou, Szabo, Csilla, and Friedman, Eitan
Published: 2011
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248. Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers

Author: Ramus, Susan J., Kartsonaki, Christiana, Gayther, Simon A., Pharoah, Paul D. P., Sinilnikova, Olga M., Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Healey, Sue, Couch, Fergus J., Wang, Xianshu, Fredericksen, Zachary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Allavena, Anna, Ottini, Laura, Papi, Laura, Gismondi, Viviana, Capra, Fabio, Radice, Paolo, Greene, Mark H., Mai, Phuong L., Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Thomassen, Mads, Gerdes, Anne-Marie, Kruse, Torben A., Cruger, Dorthe, Jensen, Uffe Birk, Caligo, Maria Adelaide, Olsson, Håkan, Kristoffersson, Ulf, Lindblom, Annika, Arver, Brita, Karlsson, Per, Stenmark Askmalm, Marie, Borg, Ake, Neuhausen, Susan L., Ding, Yuan Chun, Nathanson, Katherine L., Domchek, Susan M., Jakubowska, Anna, Lubiński, Jan, Huzarski, Tomasz, Byrski, Tomasz, Gronwald, Jacek, Górski, Bohdan, Cybulski, Cezary, Dębniak, Tadeusz, Osorio, Ana, Durán, Mercedes, Tejada, Maria-Isabel, Benítez, Javier, Hamann, Ute, Rookus, Matti A., Verhoef, Senno, Tilanus-Linthorst, Madeleine A., Vreeswijk, Maaike P., Bodmer, Danielle, Ausems, Margreet G. E. M., van Os, Theo A., Asperen, Christi J., Blok, Marinus J., Meijers-Heijboer, Hanne E. J., Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Dunning, Alison M., Evans, D. Gareth, Eeles, Ros, Pichert, Gabriella, Cole, Trevor, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J., Porteous, Mary, Kennedy, M. John, Rogers, Mark T., Side, Lucy E., Donaldson, Alan, Gregory, Helen, Godwin, Andrew, Stoppa-Lyonnet, Dominique, Moncoutier, Virginie, Castera, Laurent, Mazoyer, Sylvie, Barjhoux, Laure, Bonadona, Valérie, Leroux, Dominique, Faivre, Laurence, Lidereau, Rosette, Nogues, Catherine, Bignon, Yves-Jean, Prieur, Fabienne, Collonge-Rame, Marie-Agnès, Venat-Bouvet, Laurence, Fert-Ferrer, Sandra, Miron, Alex, Buys, Saundra S., Hopper, John L., Daly, Mary B., John, Esther M., Terry, Mary Beth, Goldgar, David, Hansen, Thomas v. O., Jønson, Lars, Ejlertsen, Bent, Agnarsson, Bjarni A., Offit, Kenneth, Kirchhoff, Tomas, Vijai, Joseph, Dutra-Clarke, Ana V. C., Przybylo, Jennifer A., Montagna, Marco, Casella, Cinzia, Imyanitov, Evgeny N., Janavicius, Ramunas, Blanco, Ignacio, Lázaro, Conxi, Moysich, Kirsten B., Karlan, Beth Y., Gross, Jenny, Beattie, Mary S., Schmutzler, Rita, Wappenschmidt, Barbara, Meindl, Alfons, Ruehl, Ina, Fiebig, Britta, Sutter, Christian, Arnold, Norbert, Deissler, Helmut, Varon-Mateeva, Raymonda, Kast, Karin, Niederacher, Dieter, Gadzicki, Dorothea, Caldes, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Simard, Jacques, Soucy, Penny, Spurdle, Amanda B., Holland, Helene, Chenevix-Trench, Georgia, Easton, Douglas F., and Antoniou, Antonis C.
Published: 2011
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249. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Author: Barnes, Daniel R., primary, Rookus, Matti A., additional, McGuffog, Lesley, additional, Leslie, Goska, additional, Mooij, Thea M., additional, Dennis, Joe, additional, Mavaddat, Nasim, additional, Adlard, Julian, additional, Ahmed, Munaza, additional, Aittomäki, Kristiina, additional, Andrieu, Nadine, additional, Andrulis, Irene L., additional, Arnold, Norbert, additional, Arun, Banu K., additional, Azzollini, Jacopo, additional, Balmaña, Judith, additional, Barkardottir, Rosa B., additional, Barrowdale, Daniel, additional, Benitez, Javier, additional, Berthet, Pascaline, additional, Białkowska, Katarzyna, additional, Blanco, Amie M., additional, Blok, Marinus J., additional, Bonanni, Bernardo, additional, Boonen, Susanne E., additional, Borg, Åke, additional, Bozsik, Aniko, additional, Bradbury, Angela R., additional, Brennan, Paul, additional, Brewer, Carole, additional, Brunet, Joan, additional, Buys, Saundra S., additional, Caldés, Trinidad, additional, Caligo, Maria A., additional, Campbell, Ian, additional, Christensen, Lise Lotte, additional, Chung, Wendy K., additional, Claes, Kathleen B.M., additional, Colas, Chrystelle, additional, Collonge-Rame, Marie-Agnès, additional, Delnatte, Capucine, additional, Faivre, Laurence, additional, Giraud, Sophie, additional, Lasset, Christine, additional, Mari, Véronique, additional, Mebirouk, Noura, additional, Mouret-Fourme, Emmanuelle, additional, Schuster, Hélène, additional, Stoppa-Lyonnet, Dominique, additional, Antoniou, Antonis, additional, Cook, Jackie, additional, Davidson, Rosemarie, additional, Easton, Douglas, additional, Eeles, Ros, additional, Evans, D. Gareth, additional, Frost, Debra, additional, Hanson, Helen, additional, Izatt, Louise, additional, Ong, Kai-ren, additional, Side, Lucy, additional, O’Shaughnessy-Kirwan, Aoife, additional, Tischkowitz, Marc, additional, Walker, Lisa, additional, Daly, Mary B., additional, de la Hoya, Miguel, additional, de Putter, Robin, additional, Devilee, Peter, additional, Diez, Orland, additional, Ding, Yuan Chun, additional, Domchek, Susan M., additional, Dorfling, Cecilia M., additional, Dumont, Martine, additional, Ejlertsen, Bent, additional, Engel, Christoph, additional, Foretova, Lenka, additional, Fostira, Florentia, additional, Friedlander, Michael, additional, Friedman, Eitan, additional, Ganz, Patricia A., additional, Garber, Judy, additional, Gehrig, Andrea, additional, Gerdes, Anne-Marie, additional, Gesta, Paul, additional, Glendon, Gord, additional, Godwin, Andrew K., additional, Goldgar, David E., additional, González-Neira, Anna, additional, Greene, Mark H., additional, Gschwantler-Kaulich, Daphne, additional, Hahnen, Eric, additional, Hamann, Ute, additional, Hentschel, Julia, additional, Hogervorst, Frans B.L., additional, Hooning, Maartje J., additional, Horvath, Judit, additional, Hu, Chunling, additional, Hulick, Peter J., additional, Imyanitov, Evgeny N., additional, Chenevix-Trench, Georgia, additional, Phillips, Kelly-Anne, additional, Spurdle, Amanda, additional, Blok, Marinus, additional, Hogervorst, Frans, additional, Hooning, Maartje, additional, Koudijs, Marco, additional, Mensenkamp, Arjen, additional, Meijers-Heijboer, Hanne, additional, Rookus, Matti, additional, Engelen, Klaartje van, additional, Noguès, Catherine, additional, Isaacs, Claudine, additional, Izquierdo, Angel, additional, Jakubowska, Anna, additional, James, Paul A., additional, Janavicius, Ramunas, additional, John, Esther M., additional, Joseph, Vijai, additional, Karlan, Beth Y., additional, Kast, Karin, additional, Kruse, Torben A., additional, Kwong, Ava, additional, Laitman, Yael, additional, Lazaro, Conxi, additional, Lester, Jenny, additional, Lesueur, Fabienne, additional, Liljegren, Annelie, additional, Loud, Jennifer T., additional, Lubiński, Jan, additional, Mai, Phuong L., additional, Manoukian, Siranoush, additional, Meijers-Heijboer, Hanne E.J., additional, Meindl, Alfons, additional, Mensenkamp, Arjen R., additional, Miller, Austin, additional, Montagna, Marco, additional, Mukherjee, Semanti, additional, Mulligan, Anna Marie, additional, Nathanson, Katherine L., additional, Neuhausen, Susan L., additional, Nevanlinna, Heli, additional, Niederacher, Dieter, additional, Nielsen, Finn Cilius, additional, Nikitina-Zake, Liene, additional, Olah, Edith, additional, Olopade, Olufunmilayo I., additional, Osorio, Ana, additional, Ott, Claus-Eric, additional, Papi, Laura, additional, Park, Sue K., additional, Parsons, Michael T., additional, Pedersen, Inge Sokilde, additional, Peissel, Bernard, additional, Peixoto, Ana, additional, Peterlongo, Paolo, additional, Pfeiler, Georg, additional, Prajzendanc, Karolina, additional, Pujana, Miquel Angel, additional, Radice, Paolo, additional, Ramser, Juliane, additional, Ramus, Susan J., additional, Rantala, Johanna, additional, Rennert, Gad, additional, Risch, Harvey A., additional, Robson, Mark, additional, Rønlund, Karina, additional, Salani, Ritu, additional, Senter, Leigha, additional, Shah, Payal D., additional, Sharma, Priyanka, additional, Side, Lucy E., additional, Singer, Christian F., additional, Slavin, Thomas P., additional, Soucy, Penny, additional, Southey, Melissa C., additional, Spurdle, Amanda B., additional, Steinemann, Doris, additional, Steinsnyder, Zoe, additional, Sutter, Christian, additional, Tan, Yen Yen, additional, Teixeira, Manuel R., additional, Teo, Soo Hwang, additional, Thull, Darcy L., additional, Tognazzo, Silvia, additional, Toland, Amanda E., additional, Trainer, Alison H., additional, Tung, Nadine, additional, van Engelen, Klaartje, additional, van Rensburg, Elizabeth J., additional, Vega, Ana, additional, Vierstraete, Jeroen, additional, Wagner, Gabriel, additional, Wang-Gohrke, Shan, additional, Wappenschmidt, Barbara, additional, Weitzel, Jeffrey N., additional, Yadav, Siddhartha, additional, Yang, Xin, additional, Yannoukakos, Drakoulis, additional, Zimbalatti, Dario, additional, Offit, Kenneth, additional, Thomassen, Mads, additional, Couch, Fergus J., additional, Schmutzler, Rita K., additional, Simard, Jacques, additional, Easton, Douglas F., additional, and Antoniou, Antonis C., additional
Published: 2020
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250. Personalizing Breast Cancer Screening Based on Polygenic Risk and Family History

Author: van den Broek, Jeroen J, primary, Schechter, Clyde B, additional, van Ravesteyn, Nicolien T, additional, Janssens, A Cecile J W, additional, Wolfson, Michael C, additional, Trentham-Dietz, Amy, additional, Simard, Jacques, additional, Easton, Douglas F, additional, Mandelblatt, Jeanne S, additional, Kraft, Peter, additional, and de Koning, Harry J, additional
Published: 2020
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