A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

Autor: Wu, Lang, Shi, Wei, Long, Jirong, Guo, Xingyi, Michailidou, Kyriaki, Beesley, Jonathan, Bolla, Manjeet K, Shu, Xiao-Ou, Lu, Yingchang, Cai, Qiuyin, Al-Ejeh, Fares, Rozali, Esdy, Wang, Qin, Dennis, Joe, Li, Bingshan, Zeng, Chenjie, Feng, Helian, Gusev, Alexander, Barfield, Richard T, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J, Auer, Paul L, Barrdahl, Myrto, Baynes, Caroline, Beckmann, Matthias W, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Brauch, Hiltrud, Brenner, Hermann, Brinton, Louise, Broberg, Per, Brucker, Sara Y, Burwinkel, Barbara, Caldés, Trinidad, Canzian, Federico, Carter, Brian D, Castelao, J Esteban, Chang-Claude, Jenny, Chen, Xiaoqing, Cheng, Ting-Yuan David, Christiansen, Hans, Clarke, Christine L, NBCS Collaborators, Collée, Margriet, Cornelissen, Sten, Couch, Fergus J, Cox, David, Cox, Angela, Cross, Simon S, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Devilee, Peter, Doheny, Kimberly F, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dumont, Martine, Dwek, Miriam, Eccles, Diana M, Eilber, Ursula, Eliassen, A Heather, Engel, Christoph, Eriksson, Mikael, Fachal, Laura, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, Gapstur, Susan M, García-Closas, Montserrat, Gaudet, Mia M, Ghoussaini, Maya, Giles, Graham G, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hallberg, Emily, Hamann, Ute, Harrington, Patricia, Hein, Alexander, Hicks, Belynda, Hillemanns, Peter, Hollestelle, Antoinette, Hoover, Robert N, Hopper, John L, Huang, Guanmengqian

Publikováno v: Nature genetics, vol 50, iss 7

The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relative risk, and the genes responsible for these associations remain largely unknown. To identify novel risk loci and likely

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::28d168b1fd3069b03fd2a0bb97ec74c5
https://escholarship.org/uc/item/83w2v3hq

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BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

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

Publikováno v: Cancer research, vol 77, iss 11

Breast cancer risks conferred by many germline missense variants in the BRCA1 and BRCA2 genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between 19 BRCA1 and 33 BRCA2 missens

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::bec2fe61e5b710dc32899cc48d51dc4f
https://escholarship.org/uc/item/3wp0r87g

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Autor: Milne, Roger L., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Beesley, Jonathan, Kar, Siddhartha, Lindstrom, Sara, Hui, Shirley, Lemaçon, Audrey, Soucy, Penny, Dennis, Joe, Jiang, Xia, Rostamianfar, Asha, Finucane, Hilary, Bolla, Manjeet K., McGuffog, Lesley, Wang, Qin, Aalfs, Cora M., Abctctb, Investigators, Adams, Marcia, Adlard, Julian, Agata, Simona, Ahmed, Shahana, Ahsan, Habibul, Aittom, Kristiina Äki, Fares, Al Ejeh, Allen, Jamie, Ambrosone, Christine B., Amos, Christopher I., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Auber, Bernd, Auer, Paul L., Ausems, Margreet G.M., Azzollini, Jacopo, François, Bacot, Balma, Judith Nã, Barile, Monica, Barjhoux, Laure, Barkardottir, Rosa B., Barrdahl, Myrto, Barnes, Daniel, Barrowdale, Daniel, Baynes, Caroline, Beckmann, Matthias W., Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Bignon, Yves Jean, Blazer, Kathleen R., Blok, Marinus J., Blomqvist, Carl, Blot, William, Bobolis, Kristie, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Anders, Bojesen, Stig E., Bonanni, Bernardo, Anne-Lise, Børresen Dale, Bozsik, Aniko, Bradbury, Angela R., Brand, Judith S., Brauch, Hiltrud, Brenner, Hermann, Brigitte, Bressac De Paillerets, Brewer, Carole, Brinton, Louise, Broberg, Per, Angela, Brooks Wilson, Brunet, Joan, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S., Byun, Jinyoung, Cai, Qiuyin, Cald, Trinidad És, Caligo, Maria A., Campbell, Ian, Canzian, Federico, Caron, Olivier, Carracedo, Angel, Carter, Brian D., Esteban, Castelao, Castera, Laurent, Virginie, Caux Moncoutier, Chan, Salina B., Jenny, Chang Claude, Chanock, Stephen J., Chen, Xiaoqing, Cheng, Ting Yuan David, Chiquette, Jocelyne, Christiansen, Hans, Claes, Kathleen B., Clarke, Christine L., Conner, Thomas, Conroy, Don M., Cook, Jackie, Cordina-Duverger, Emilie, Cornelissen, Sten, Coupier, Isabelle, Cox, Angela, Cox, David G., Cross, Simon S., Cuk, Katarina, Cunningham, J. M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, Davidson, Rosemarie, Leeneer, Kim De L., Devilee, Peter, Dicks, Ed, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Doheny, Kimberly F., Domchek, Susan M., Dorfling, Cecilia M., Dörk, Thilo, Dos-Santos-Silva, Isabel, Dubois, Stéphane, Dugué, Pierre Antoine, Dumont, Martine, Dunning, Alison M., Durcan, Lorraine, Dwek, Miriam, Dworniczak, Bernd, Eccles, Diana, Eeles, Ros, Ehrencrona, Hans, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B., Eliassen, A. Heather, Engel, Christoph, Eriksson, Mikael, Fachal, Laura, Faivre, Laurence, Fasching, Peter A., Faust, Ulrike, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foulkes, William D., Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Gaddam, Pragna, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Garcia-Barberan, Vanesa, Garciá-Saénz, José A., Gaudet, Mia M., Gauthier-Villars, Marion, Gehrig, Andrea, Georgoulias, Vassilios, Gerdes, Anne Marie, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Goodfellow, Paul, Greene, Mark H., Grenaker, Grethe Alnæs I., Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Gschwantler, Daphne Kaulich, Guénel, Pascal, Guo, Qi, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hallberg, Emily, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Hansen, Thomas V., Harrington, Patricia, Hart, Steven N., Hartikainen, Jaana M., Healey, Catherine S., Hein, Alexander, Helbig, Sonja, Henderson, Alex, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Hodgson, Shirley, Hogervorst, Frans B., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Bob, Hopper, John L., Hu, Chunling, Huang, Guanmengqian, Hulick, Peter J., Humphreys, Keith, Hunter, David J., Imyanitov, Evgeny N., Isaacs, Claudine, Iwasaki, Motoki, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, Jensen, Uffe Birk, John, Esther M., Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kast, Karin, Keeman, Renske, Kerin, Michael J., Kets, Carolien M., Keupers, Mac Hteld, Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I., Kim, Sung Won, Knight, Julia A., Konstantopoulou, Irene, Kosma, Veli Matti, Kristensen, Vessela N., Kruse, Torben A., Kwong, Ava, Lænkholm, Anne Vibeke, Laitman, Yael, Lalloo, Fiona, Lambrechts, Diether, Landsman, Keren, Lasset, Christine, Lazaro, Conxi, Marchand, Loic Le, Lindström, Sara, Al-Ejeh, Fares, Margreet, G. M.Ausems, Bacot, François, Børresen-Dale, Anne Lise, Bressac-De, Brigitte Paillerets, Brooks-Wilson, Angela, Castelao, J. Esteban, Caux-Moncoutier, Virginie, Chang-Claude, Jenny, McLaes, Kathleen B., Leeneer, Kim De, Dieter, Flesch Janys, Gschwantler-Kaulich, Daphne, Keupers, MacHteld, Lecarpentier, Julie, Lee, Andrew, Lee, Eunjung, Won, Jong Lee, Lee, Min Hyuk, Lejbkowicz, Flavio, Lesueur, Fabienne, Li, Jingmei, Lilyquist, Jenna, Lincoln, Anne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing Yee, Loibl, Sibylle, Long, Jirong, Loud, Jennifer T., Lubinski, Jan, Luccarini, Craig, Lush, Michael, MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Kostovska, Ivana Maleva, Malone, Kathleen E., Siranoush, Manoukian, Manson, Joann E., Margolin, Sara, Martens, John W., Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, Mazoyer, Sylvie, McLean, Catriona, Meijers-Heijboer, Hanne, Menéndez, Primitiva, Meyer, Jeffery, Miao, Hui, Miller, Austin, Miller, Nicola, Mitchell, Gillian, Montagna, Marco, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Nadesan, Sue, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nevelsteen, Ines, Niederacher, Dieter, Nielsen, Sune F., Nordestgaard, Børge G., Norman, Aaron, Nussbaum, Robert L., Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Olswold, Curtis, Ong, Kai Ren, Oosterwijk, Jan C., Orr, Nick, Osorio, Ana, Pankratz, V. Shane, Papi, Laura, Park-Simon, Tjoung Won, Paulsson-Karlsson, Ylva, Lloyd, Rachel, Pedersen, Inge Søkilde, Peissel, Bernard, Peixoto, Ana, Perez, Jose I., Peterlongo, Paolo, Peto, Julian, Pfeiler, Georg, Phelan, Catherine M., Pinchev, Mila, Plaseska-Karanfilska, Dijana, Poppe, Bruce, Porteous, Mary E., Prentice, Ross, Presneau, Nadege, Prokofieva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rennert, Hedy S., Rhenius, Valerie, Rhiem, Kerstin, Richardson, Andrea, Rodriguez, Gustavo C., Romero, Atocha, Romm, Jane, Rookus, Matti A., Rudolph, Anja, Ruediger, Thomas, Saloustros, Emmanouil, Sanders, Joyce, Sandler, Dale P., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Daniel F., Schoemaker, Minouk J., Schumacher, Fredrick, Schürmann, Peter, Schwentner, Lukas, Scott, Christopher, Scott, Rodney J., Seal, Sheila, Senter, Leigha, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen Yang, Sheng, Xin, Shimelis, Hermela, Shrubsole, Martha J., Shu, Xiao Ou, Side, Lucy E., Singer, Christian F., Sohn, Christof, Southey, Melissa C., Spinelli, John J., Spurdle, Amanda B., Stegmaier, Christa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Surowy, Harald, Sutter, Christian, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla M., Tan, Yen Y., Taylor, Jack A., Tejada, Maria Isabel, Tengström, Maria, Teo, Soo H., Terry, Mary B., Tessier, Daniel C., Teul, Alex E., Thöne, Kathrin, Thull, Darcy L., Tibiletti, Maria Grazia, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda E., Tollenaar, Rob A.M., Tomlinson, Ian, Tong, Ling, Torres, Diana, Tranchant, Martine, Truong, Thérèse, Tucker, Kathy, Tung, Nadine, Tyrer, Jonathan, Ulmer, Hans Ulrich, Vachon, Celine, Christi, Van Asperen J., Den Berg, David Van, Ouweland, Ans M.Vanden, Rensburg, Elizabeth J., Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Viel, Alessandra, Vijai, Joseph, Vincent, Daniel, Vollenweider, Jason, Walker, Lisa, Wang, Zhaoming, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wendt, Camilla, Wesseling, Jelle, Whittemore, Alice S., Wijnen, Juul T., Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Xia, Lucy, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zaffaroni, Daniela, Zheng, Wei, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, Zorn, Kristin K., Gago-Dominguez, Manuela, Mannermaa, Arto, Olsson, Håkan, Teixeira, Manuel R., Stone, Jennifer, Offit, Kenneth, Ottini, Laura, Park, Sue K., Thomassen, Mads, Hall, Per, Meindl, Alfons, Schmutzler, Rita K., Droit, Arnaud, Bader, Gary D., Pharoah, Paul D., Couch, Fergus J., Easton, Douglas F., Kraft, Peter, Chenevix-Trench, Georgia, Garciá-Closas, Montserrat, Schmidt, Marjanka K., Antoniou, Antonis C., Simard, Jacques

Publikováno v: NATURE GENETICS
Milne, R L, Kuchenbaecker, K B, Michailidou, K, Beesley, J, Kar, S, Lindström, S, Hui, S, Lemaçon, A, Soucy, P, Dennis, J, Jiang, X, Rostamianfar, A, Finucane, H, Bolla, M K, McGuffog, L, Wang, Q, Aalfs, C M, Adams, M, Adlard, J, Agata, S, Ahmed, S, Ahsan, H, Aittomäki, K, Al-Ejeh, F, Allen, J, Ambrosone, C B, Amos, C I, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Arndt, V, Arnold, N, Aronson, K J, Auber, B, Auer, P L, Ausems, M G E M, Azzollini, J, Bacot, F, Balmaña, J, Barile, M, Barjhoux, L, Barkardottir, R B, Barrdahl, M, Barnes, D, Barrowdale, D, Bojesen, A, Gerdes, A-M, Kruse, T A, Lænkholm, A-V, Thomassen, M & ABCTB Investigators 2017, ' Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer ', Nature Genetics, vol. 49, no. 12, pp. 1767–1778 . https://doi.org/10.1038/ng.3785
Nature Genetics, 49, 12, pp. 1767-1778
Recercat. Dipósit de la Recerca de Catalunya
instname
Nature Genetics, 49(12), 1767-1778. Nature Publishing Group
Nature genetics, 49(12), 1767-1778. Nature Publishing Group
Milne, R L, Kuchenbaecker, K B, Michailidou, K, Beesley, J, Kar, S, Lindström, S, Hui, S, Lemaçon, A, Soucy, P, Dennis, J, Jiang, X, Rostamianfar, A, Finucane, H, Bolla, M K, McGuffog, L, Wang, Q, Aalfs, C M, Adams, M, Adlard, J, Agata, S, Ahmed, S, Ahsan, H, Aittomäki, K, Al-Ejeh, F, Allen, J, Ambrosone, C B, Amos, C I, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Arndt, V, Arnold, N, Aronson, K J, Auber, B, Auer, P L, Ausems, M G E M, Azzollini, J, Bacot, F, Balmaña, J, Barile, M, Barjhoux, L, Barkardottir, R B, Barrdahl, M, Barnes, D, Barrowdale, D, Baynes, C, Beckmann, M W, Benitez, J, Bermisheva, M, Pedersen, I S & ABCTB Investigators 2017, ' Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer ', Nature Genetics, vol. 49, no. 12, pp. 1767-1778 . https://doi.org/10.1038/ng.3785
Milne, R L, Kuchenbaecker, K B, Michailidou, K, Beesley, J, Kar, S, Lindstrom, S, Hui, S, Lemaçon, A, Soucy, P, Dennis, J, Jiang, X, Rostamianfar, A, Finucane, H, Bolla, M K, McGuffog, L, Wang, Q, Aalfs, C M, Abctctb, I, Adams, M, Adlard, J, Agata, S, Ahmed, S, Ahsan, H, Aittom, K Ä, Fares, A E, Allen, J, Ambrosone, C B, Amos, C I, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Arndt, V, Arnold, N, Aronson, K J, Auber, B, Auer, P L, Ausems, M G M, Azzollini, J, François, B, Balma, J N, Barile, M, Barjhoux, L, Barkardottir, R B, Barrdahl, M, Barnes, D, Barrowdale, D, Baynes, C, Beckmann, M W, Benitez, J, Bermisheva, M, Bernstein, L, Bignon, Y J, Blazer, K R, Blok, M J, Blomqvist, C, Blot, W, Bobolis, K, Boeckx, B, Bogdanova, N V, Bojesen, A, Bojesen, S E, Bonanni, B, Anne-Lise, B D, Bozsik, A, Bradbury, A R, Brand, J S, Brauch, H, Brenner, H, Brigitte, B D P, Brewer, C, Brinton, L, Broberg, P, Angela, B W, Brunet, J, Brüning, T, Burwinkel, B, Buys, S S, Byun, J, Cai, Q, Cald, T É, 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Garcia-Barberan, V, Garciá-Saénz, J A, Gaudet, M M, Gauthier-Villars, M, Gehrig, A, Georgoulias, V, Gerdes, A M, Giles, G G, Glendon, G, Godwin, A K, Goldberg, M S, Goldgar, D E, González-Neira, A, Goodfellow, P, Greene, M H, Grenaker, G A I, Grip, M, Gronwald, J, Grundy, A, Gschwantler, D K, Guénel, P, Guo, Q, Haeberle, L, Hahnen, E, Haiman, C A, Håkansson, N, Hallberg, E, Hamann, U, Hamel, N, Hankinson, S, Hansen, T V, Harrington, P, Hart, S N, Hartikainen, J M, Healey, C S, Hein, A, Helbig, S, Henderson, A, Heyworth, J, Hicks, B, Hillemanns, P, Hodgson, S, Hogervorst, F B, Hollestelle, A, Hooning, M J, Hoover, B, Hopper, J L, Hu, C, Huang, G, Hulick, P J, Humphreys, K, Hunter, D J, Imyanitov, E N, Isaacs, C, Iwasaki, M, Izatt, L, Jakubowska, A, James, P, Janavicius, R, Janni, W, Jensen, U B, John, E M, Johnson, N, Jones, K, Jones, M, Jukkola-Vuorinen, A, Kaaks, R, Kabisch, M, Kaczmarek, K, Kang, D, Kast, K, Keeman, R, Kerin, M J, Kets, C M, Keupers, M H, Khan, S, Khusnutdinova, E, Kiiski, J I, Kim, S W, Knight, J A, Konstantopoulou, I, Kosma, V M, Kristensen, V N, Kruse, T A, Kwong, A, Lænkholm, A V, Laitman, Y, Lalloo, F, Lambrechts, D, Landsman, K, Lasset, C, Lazaro, C, Marchand, L L, Milne, R L, Kuchenbaecker, K B, Michailidou, K, Beesley, J, Kar, S, Lindström, S, Hui, S, Lemaçon, A, Soucy, P, Dennis, J, Jiang, X, Rostamianfar, A, Finucane, H, Bolla, M K, McGuffog, L, Wang, Q, Aalfs, C M, Adams, M, Adlard, J, Agata, S, Ahmed, S, Ahsan, H, Aittom, K Ä, Al-Ejeh, F, Allen, J, Ambrosone, C B, Amos, C I, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Arndt, V, Arnold, N, Aronson, K J, Auber, B, Auer, P L, Margreet, G M A, Azzollini, J, Bacot, F, Balma, J N, Barile, M, Barjhoux, L, Barkardottir, R B, Barrdahl, M, Barnes, D, Barrowdale, D, Baynes, C, Beckmann, M W, Benitez, J, Bermisheva, M, Bernstein, L, Bignon, Y J, Blazer, K R, Blok, M J, Blomqvist, C, Blot, W, Bobolis, K, Boeckx, B, Bogdanova, N V, Bojesen, A, Bojesen, S E, Bonanni, B, Børresen-Dale, A L, Bozsik, A, Bradbury, A R, Brand, J S, Brauch, H, Brenner, H, Bressac-De, B P, Brewer, C, Brinton, L, Broberg, P, Brooks-Wilson, A, Brunet, J, Brüning, T, Burwinkel, B, Buys, S S, Byun, J, Cai, Q, Cald, T É, Caligo, M A, Campbell, I, Canzian, F, Caron, O, Carracedo, A, Carter, B D, Castelao, J E, Castera, L, Caux-Moncoutier, V, Chan, S B, Chang-Claude, J, Chanock, S J, Chen, X, Cheng, T Y D, Chiquette, J, Christiansen, H, McLaes, K B, Clarke, C L, Conner, T, Conroy, D M, Cook, J, Cordina-Duverger, E, Cornelissen, S, Coupier, I, Cox, A, Cox, D G, Cross, S S, Cuk, K, Cunningham, J M, Czene, K, Daly, M B, Damiola, F, Darabi, H, Davidson, R, Leeneer, K D, Devilee, P, Dicks, E, Diez, O, Ding, Y C, Ditsch, N, Doheny, K F, Domchek, S M, Dorfling, C M, Dörk, T, Dos-Santos-Silva, I, Dubois, S, Dugué, P A, Dumont, M, Dunning, A M, Durcan, L, Dwek, M, Dworniczak, B, Eccles, D, Eeles, R, Ehrencrona, H, Eilber, U, Ejlertsen, B, Ekici, A B, Eliassen, A H, Engel, C, Eriksson, M, Fachal, L, Faivre, L, Fasching, P A, Faust, U, Figueroa, J, Dieter, F J, Fletcher, O, Flyger, H, Foulkes, W D, Friedman, E, Fritschi, L, Frost, D, Gabrielson, M, Gaddam, P, Gammon, M D, Ganz, P A, Gapstur, S M, Garber, J, Garcia-Barberan, V, Garciá-Saénz, J A, Gaudet, M M, Gauthier-Villars, M, Gehrig, A, Georgoulias, V, Gerdes, A M, Giles, G G, Glendon, G, Godwin, A K, Goldberg, M S, Goldgar, D E, González-Neira, A, Goodfellow, P, Greene, M H, Grenaker, G A I, Grip, M, Gronwald, J, Grundy, A, Gschwantler-Kaulich, D, Guénel, P, Guo, Q, Haeberle, L, Hahnen, E, Haiman, C A, Håkansson, N, Hallberg, E, Hamann, U, Hamel, N, Hankinson, S, Hansen, T V, Harrington, P, Hart, S N, Hartikainen, J M, Healey, C S, Hein, A, Helbig, S, Henderson, A, Heyworth, J, Hicks, B, Hillemanns, P, Hodgson, S, Hogervorst, F B, Hollestelle, A, Hooning, M J, Hoover, B, Hopper, J L, Hu, C, Huang, G, Hulick, P J, Humphreys, K, Hunter, D J, Imyanitov, E N, Isaacs, C, Iwasaki, M, Izatt, L, Jakubowska, A, James, P, Janavicius, R, Janni, W, Jensen, U B, John, E M, Johnson, N, Jones, K, Jones, M, Jukkola-Vuorinen, A, Kaaks, R, Kabisch, M, Kaczmarek, K, Kang, D, Kast, K, Keeman, R, Kerin, M J, Kets, C M, Keupers, M, Khan, S, Khusnutdinova, E, Kiiski, J I, Kim, S W, Knight, J A, Konstantopoulou, I, Kosma, V M, Kristensen, V N, Kruse, T A, Kwong, A, Lænkholm, A V, Laitman, Y, Lalloo, F, Lambrechts, D, Landsman, K, Lasset, C, Lazaro, C, Marchand, L L, Lecarpentier, J, Lee, A, Lee, E, Won, J L, Lee, M H, Lejbkowicz, F, Lesueur, F, Li, J, Lilyquist, J, Lincoln, A, Lindblom, A, Lissowska, J, Lo, W Y, Loibl, S, Long, J, Loud, J T, Lubinski, J, Luccarini, C, Lush, M, MacInnis, R J, Maishman, T, Makalic, E, Kostovska, I M, Malone, K E, Siranoush, M, Manson, J E, Margolin, S, Martens, J W, Martinez, M E, Matsuo, K, Mavroudis, D, Mazoyer, S, McLean, C, Meijers-Heijboer, H, Menéndez, P, Meyer, J, Miao, H, Miller, A, Miller, N, Mitchell, G, Montagna, M, Muir, K, Mulligan, A M, Mulot, C, Nadesan, S, Nathanson, K L, Neuhausen, S L, Nevanlinna, H, Nevelsteen, I, Niederacher, D, Nielsen, S F, Nordestgaard, B G, Norman, A, Nussbaum, R L, Olah, E, Olopade, O I, Olson, J E, Olswold, C, Ong, K R, Oosterwijk, J C, Orr, N, Osorio, A, Pankratz, V S, Papi, L, Park-Simon, T W, Paulsson-Karlsson, Y, Lloyd, R, Pedersen, I S, Peissel, B, Peixoto, A, Perez, J I, Peterlongo, P, Peto, J, Pfeiler, G, Phelan, C M, Pinchev, M, Plaseska-Karanfilska, D, Poppe, B, Porteous, M E, Prentice, R, Presneau, N, Prokofieva, D, Pugh, E, Pujana, M A, Pylkäs, K, Rack, B, Radice, P, Rahman, N, Rantala, J, Rappaport-Fuerhauser, C, Rennert, G, Rennert, H S, Rhenius, V, Rhiem, K, Richardson, A, Rodriguez, G C, Romero, A, Romm, J, Rookus, M A, Rudolph, A, Ruediger, T, Saloustros, E, Sanders, J, Sandler, D P, Sangrajrang, S, Sawyer, E J, Schmidt, D F, Schoemaker, M J, Schumacher, F, Schürmann, P, Schwentner, L, Scott, C, Scott, R J, Seal, S, Senter, L, Seynaeve, C, Shah, M, Sharma, P, Shen, C Y, Sheng, X, Shimelis, H, Shrubsole, M J, Shu, X O, Side, L E, Singer, C F, Sohn, C, Southey, M C, Spinelli, J J, Spurdle, A B, Stegmaier, C, Stoppa-Lyonnet, D, Sukiennicki, G, Surowy, H, Sutter, C, Swerdlow, A, Szabo, C I, Tamimi, R M, Tan, Y Y, Taylor, J A, Tejada, M I, Tengström, M, Teo, S H, Terry, M B, Tessier, D C, Teul, A E, Thöne, K, Thull, D L, Tibiletti, M G, Tihomirova, L, Tischkowitz, M, Toland, A E, Tollenaar, R A M, Tomlinson, I, Tong, L, Torres, D, Tranchant, M, Truong, T, Tucker, K, Tung, N, Tyrer, J, Ulmer, H U, Vachon, C, Christi, V A J, Den Berg, D V, Ouweland, A M V, Rensburg, E J, Varesco, L, Varon-Mateeva, R, Vega, A, Viel, A, Vijai, J, Vincent, D, Vollenweider, J, Walker, L, Wang, Z, Wang-Gohrke, S, Wappenschmidt, B, Weinberg, C R, Weitzel, J N, Wendt, C, Wesseling, J, Whittemore, A S, Wijnen, J T, Willett, W, Winqvist, R, Wolk, A, Wu, A H, Xia, L, Yang, X R, Yannoukakos, D, Zaffaroni, D, Zheng, W, Zhu, B, Ziogas, A, Ziv, E, Zorn, K K, Gago-Dominguez, M, Mannermaa, A, Olsson, H, Teixeira, M R, Stone, J, Offit, K, Ottini, L, Park, S K, Thomassen, M, Hall, P, Meindl, A, Schmutzler, R K, Droit, A, Bader, G D, Pharoah, P D, Couch, F J, Easton, D F, Kraft, P, Chenevix-Trench, G, Garciá-Closas, M, Schmidt, M K, Antoniou, A C & Simard, J 2017, ' Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer ', Nature Genetics, vol. 49, no. 12, pp. 1767-1778 . https://doi.org/10.1038/ng.3785
Milne, R L, Kuchenbaecker, K B, Michailidou, K, Beesley, J, Kar, S, Lindström, S, Hui, S, Lemaçon, A, Soucy, P, Dennis, J, Jiang, X, Rostamianfar, A, Finucane, H, Bolla, M K, McGuffog, L, Wang, Q, Aalfs, C M, Adams, M, Adlard, J, Agata, S, Ahmed, S, Ahsan, H, Aittomäki, K, Al-Ejeh, F, Allen, J, Ambrosone, C B, Amos, C I, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Arndt, V, Arnold, N, Aronson, K J, Auber, B, Auer, P L, Ausems, M G E M, Azzollini, J, Bacot, F, Balmaña, J, Barile, M, Barjhoux, L, Barkardottir, R B, Barrdahl, M, Barnes, D, Bojesen, A, Christiansen, H, Hansen, T V O, Jensen, U B, Nielsen, S F, Pedersen, I S & ABCTB Investigators 2017, ' Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer ', Nature Genetics, vol. 49 . https://doi.org/10.1038/ng.3785
CORE
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the Breast Cancer Association Consortium (BCAC), the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), Milne, R L, Brand, J S & Muir, K & Antoniou, A C 2017, ' Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer ', Nature Genetics, vol. 49, no. 12, pp. 1767-1778 . https://doi.org/10.1038/ng.3785
Milne, R L, Kuchenbaecker, K B, Michailidou, K, Orr, N, Beesley, J, Karr, S, Lindström, S, Hui, S, Lemaçon, A & Soucy, P 2017, ' Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer ', Nature Genetics, vol. 49, pp. 1767-1778 . https://doi.org/10.1038/ng.3785
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Milne, R L, Kuchenbaecker, K B, Michailidou, K, Beesley, J, Kar, S, Lindström, S, Hui, S, Lemaçon, A, Soucy, P, Dennis, J, Jiang, X, Rostamianfar, A, Finucane, H, Bolla, M K, Mcguffog, L, Wang, Q, Aalfs, C M, Adams, M, Adlard, J, Agata, S, Ahmed, S, Ahsan, H, Aittomäki, K, Al-ejeh, F, Allen, J, Ambrosone, C B, Amos, C I, Andrulis, I L, Anton-culver, H, Antonenkova, N N, Arndt, V, Arnold, N, Aronson, K J, Auber, B, Auer, P L, Ausems, M G E M, Azzollini, J, Bacot, F, Balmaña, J, Barile, M, Barjhoux, L, Barkardottir, R B, Barrdahl, M, Barnes, D, Barrowdale, D, Baynes, C, Beckmann, M W, Benitez, J, Bermisheva, M, Bernstein, L, Bignon, Y, Blazer, K R, Blok, M J, Blomqvist, C, Blot, W, Bobolis, K, Boeckx, B, Bogdanova, N V, Bojesen, A, Bojesen, S E, Bonanni, B, Børresen-dale, A, Bozsik, A, Bradbury, A R, Brand, J S, Brauch, H, Brenner, H, Bressac-de Paillerets, B, Brewer, C, Brinton, L, Broberg, P, Brooks-wilson, A, Brunet, J, Brüning, T, Burwinkel, B, Buys, S S, Byun, J, Cai, Q, Caldés, T, Caligo, M A, Campbell, I, Canzian, F, Caron, O, Carracedo, A, Carter, B D, Castelao, J E, Castera, L, Caux-moncoutier, V, Chan, S B, Chang-claude, J, Chanock, S J, Chen, X, Cheng, T D, Chiquette, J, Christiansen, H, Claes, K B M, Clarke, C L, Conner, T, Conroy, D M, Cook, J, Cordina-duverger, E, Cornelissen, S, Coupier, I, Cox, A, Cox, D G, Cross, S S, Cuk, K, Cunningham, J M, Czene, K, Daly, M B, Damiola, F, Darabi, H, Davidson, R, De Leeneer, K, Devilee, P, Dicks, E, Diez, O, Ding, Y C, Ditsch, N, Doheny, K F, Domchek, S M, Dorfling, C M, Dörk, T, Dos-santos-silva, I, Dubois, S, Dugué, P, Dumont, M, Dunning, A M, Durcan, L, Dwek, M, Dworniczak, B, Eccles, D, Eeles, R, Ehrencrona, H, Eilber, U, Ejlertsen, B, Ekici, A B, Eliassen, A H, Engel, C, Eriksson, M, Fachal, L, Faivre, L, Fasching, P A, Faust, U, Figueroa, J, Flesch-janys, D, Fletcher, O, Flyger, H, Foulkes, W D, Friedman, E, Fritschi, L, Frost, D, Gabrielson, M, Gaddam, P, Gammon, M D, Ganz, P A, Gapstur, S M, Garber, J, Garcia-barberan, V, García-sáenz, J A, Gaudet, M M, Gauthier-villars, M, Gehrig, A, Georgoulias, V, Gerdes, A, Giles, G G, Glendon, G, Godwin, A K, Goldberg, M S, Goldgar, D E, González-neira, A, Goodfellow, P, Greene, M H, Alnæs, G I G, Grip, M, Gronwald, J, Grundy, A, Gschwantler-kaulich, D, Guénel, P, Guo, Q, Haeberle, L, Hahnen, E, Haiman, C A, Håkansson, N, Hallberg, E, Hamann, U, Hamel, N, Hankinson, S, Hansen, T V O, Harrington, P, Hart, S N, Hartikainen, J M, Healey, C S, Hein, A, Helbig, S, Henderson, A, Heyworth, J, Hicks, B, Hillemanns, P, Hodgson, S, Hogervorst, F B, Hollestelle, A, Hooning, M J, Hoover, B, Hopper, J L, Hu, C, Huang, G, Hulick, P J, Humphreys, K, Hunter, D J, Imyanitov, E N, Isaacs, C, Iwasaki, M, Izatt, L, Jakubowska, A, James, P, Janavicius, R, Janni, W, Jensen, U B, John, E M, Johnson, N, Jones, K, Jones, M, Jukkola-vuorinen, A, Kaaks, R, Kabisch, M, Kaczmarek, K, Kang, D, Kast, K, Keeman, R, Kerin, M J, Kets, C M, Keupers, M, Khan, S, Khusnutdinova, E, Kiiski, J I, Kim, S, Knight, J A, Konstantopoulou, I, Kosma, V, Kristensen, V N, Kruse, T A, Kwong, A, Lænkholm, A, Laitman, Y, Lalloo, F, Lambrechts, D, Landsman, K, Lasset, C, Lazaro, C, Le Marchand, L, Lecarpentier, J, Lee, A, Lee, E, Lee, J W, Lee, M H, Lejbkowicz, F, Lesueur, F, Li, J, Lilyquist, J, Lincoln, A, Lindblom, A, Lissowska, J, Lo, W, Loibl, S, Long, J, Loud, J T, Lubinski, J, Luccarini, C, Lush, M, Macinnis, R J, Maishman, T, Makalic, E, Kostovska, I M, Malone, K E, Manoukian, S, Manson, J E, Margolin, S, Martens, J W M, Martinez, M E, Matsuo, K, Mavroudis, D, Mazoyer, S, Mclean, C, Meijers-heijboer, H, Menéndez, P, Meyer, J, Miao, H, Miller, A, Miller, N, Mitchell, G, Montagna, M, Muir, K, Mulligan, A M, Mulot, C, Nadesan, S, Nathanson, K L, Neuhausen, S L, Nevanlinna, H, Nevelsteen, I, Niederacher, D, Nielsen, S F, Nordestgaard, B G, Norman, A, Nussbaum, R L, Olah, E, Olopade, O I, Olson, J E, Olswold, C, Ong, K, Oosterwijk, J C, Orr, N, Osorio, A, Pankratz, V S, Papi, L, Park-simon, T, Paulsson-karlsson, Y, Lloyd, R, Pedersen, I S, Peissel, B, Peixoto, A, Perez, J I A, Peterlongo, P, Peto, J, Pfeiler, G, Phelan, C M, Pinchev, M, Plaseska-karanfilska, D, Poppe, B, Porteous, M E, Prentice, R, Presneau, N, Prokofieva, D, Pugh, E, Pujana, M A, Pylkäs, K, Rack, B, Radice, P, Rahman, N, Rantala, J, Rappaport-fuerhauser, C, Rennert, G, Rennert, H S, Rhenius, V, Rhiem, K, Richardson, A, Rodriguez, G C, Romero, A, Romm, J, Rookus, M A, Rudolph, A, Ruediger, T, Saloustros, E, Sanders, J, Sandler, D P, Sangrajrang, S, Sawyer, E J, Schmidt, D F, Schoemaker, M J, Schumacher, F, Schürmann, P, Schwentner, L, Scott, C, Scott, R J, Seal, S, Senter, L, Seynaeve, C, Shah, M, Sharma, P, Shen, C, Sheng, X, Shimelis, H, Shrubsole, M J, Shu, X, Side, L E, Singer, C F, Sohn, C, Southey, M C, Spinelli, J J, Spurdle, A B, Stegmaier, C, Stoppa-lyonnet, D, Sukiennicki, G, Surowy, H, Sutter, C, Swerdlow, A, Szabo, C I, Tamimi, R M, Tan, Y Y, Taylor, J A, Tejada, M, Tengström, M, Teo, S H, Terry, M B, Tessier, D C, Teulé, A, Thöne, K, Thull, D L, Tibiletti, M G, Tihomirova, L, Tischkowitz, M, Toland, A E, Tollenaar, R A E M, Tomlinson, I, Tong, L, Torres, D, Tranchant, M, Truong, T, Tucker, K, Tung, N, Tyrer, J, Ulmer, H, Vachon, C, Van Asperen, C J, Van Den Berg, D, Van Den Ouweland, A M W, Van Rensburg, E J, Varesco, L, Varon-mateeva, R, Vega, A, Viel, A, Vijai, J, Vincent, D, Vollenweider, J, Walker, L, Wang, Z, Wang-gohrke, S, Wappenschmidt, B, Weinberg, C R, Weitzel, J N, Wendt, C, Wesseling, J, Whittemore, A S, Wijnen, J T, Willett, W, Winqvist, R, Wolk, A, Wu, A H, Xia, L, Yang, X R, Yannoukakos, D, Zaffaroni, D, Zheng, W, Zhu, B, Ziogas, A, Ziv, E, Zorn, K K, Gago-dominguez, M, Mannermaa, A, Olsson, H, Teixeira, M R, Stone, J, Offit, K, Ottini, L, Park, S K, Thomassen, M, Hall, P, Meindl, A, Schmutzler, R K, Droit, A, Bader, G D, Pharoah, P D P, Couch, F J, Easton, D F, Kraft, P, Chenevix-trench, G, García-closas, M, Schmidt, M K, Antoniou, A C, Simard, J & Tomlinson, I 2017, ' Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer ', Nature Genetics . https://doi.org/10.1038/ng.3785
Nature Genetics, 49(12), 1767-+. Nature Publishing Group
Nature Genetics, 49(12), 1767. Nature Publishing Group
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Universidad de Barcelona
Nature Genetics
Milne, R L, Kuchenbaecker, K B, Michailidou, K, Beesley, J, Kar, S, Lindström, S, Hui, S, Lemaçon, A, Soucy, P, Dennis, J, Jiang, X, Rostamianfar, A, Finucane, H, Bolla, M K, McGuffog, L, Wang, Q, Aalfs, C M, Adams, M, Adlard, J, Agata, S, Ahmed, S, Ahsan, H, Aittomäki, K, Al-Ejeh, F, Allen, J, Ambrosone, C B, Amos, C I, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Arndt, V, Arnold, N, Aronson, K J, Auber, B, Auer, P L, Ausems, M G E M, Azzollini, J, Bacot, F, Balmaña, J, Barile, M, Barjhoux, L, Barkardottir, R B, Barrdahl, M, Barnes, D, Barrowdale, D, Baynes, C, Beckmann, M W, Benitez, J, Bermisheva, M, Muir, K & ABCTB Investigators 2017, ' Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer ', Nature Genetics, vol. 49, no. 12, pp. 1767-1778 . https://doi.org/10.1038/ng.3785
Nature Genetics, 49, 1767-1778
Nature Genetics, 49(12), 1767

Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease1. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad13d9385f2e02a9b785942681ea3405
https://biblio.ugent.be/publication/8582495

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

Autor: Rebbeck, Timothy R, Friebel, Tara M, Mitra, Nandita, Wan, Fei, Chen, Stephanie, Andrulis, Irene L, Apostolou, Paraskevi, Arnold, Norbert, Arun, Banu K, Barrowdale, Daniel, Benitez, Javier, Berger, Raanan, Berthet, Pascaline, Borg, Ake, Buys, Saundra S, Caldes, Trinidad, Carter, Jonathan, Chiquette, Jocelyne, Claes, Kathleen BM, Couch, Fergus J, Cybulski, Cezary, Daly, Mary B, de la Hoya, Miguel, Diez, Orland, Domchek, Susan M, Nathanson, Katherine L, Durda, Katarzyna, Ellis, Steve, EMBRACE, Evans, D Gareth, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, Glendon, Gord, Godwin, Andrew K, Greene, Mark H, Gronwald, Jacek, Hahnen, Eric, Hallberg, Emily, Hamann, Ute, Hansen, Thomas VO, HEBON, Imyanitov, Evgeny N, Isaacs, Claudine, Jakubowska, Anna, Janavicius, Ramunas, Jaworska-Bieniek, Katarzyna, John, Esther M, Karlan, Beth Y, Kaufman, Bella, Investigators, KConFab, Kwong, Ava, Laitman, Yael, Lasset, Christine, Lazaro, Conxi, Lester, Jenny, Loman, Niklas, Lubinski, Jan, Manoukian, Siranoush, Mitchell, Gillian, Montagna, Marco, Neuhausen, Susan L, Nevanlinna, Heli, Niederacher, Dieter, Nussbaum, Robert L, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Park, Sue Kyung, Piedmonte, Marion, Radice, Paolo, Rappaport-Fuerhauser, Christine, Rookus, Matti A, Seynaeve, Caroline, Simard, Jacques, Singer, Christian F, Soucy, Penny, Southey, Melissa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Szabo, Csilla I, Tancredi, Mariella, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Mary Beth, Thomassen, Mads, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda Ewart, Toloczko-Grabarek, Aleksandra, Tung, Nadine, van Rensburg, Elizabeth J, Villano, Danylo, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N, Zidan, Jamal, Zorn, Kristin K

Publikováno v: Breast cancer research : BCR, vol 18, iss 1

BackgroundMost BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::541d0121c51723b13ccc5e4ac595e463
https://escholarship.org/uc/item/3g65b9w7