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Sperm FISH analysis of a 46,XY,t(3;6)(p24;p21.2),inv (8)(p11;2q21.2) double chromosomal rearrangement

Autor: Ferfouri, Fatma, Boitrelle, Florence, Tapia, Sylvie, Molina Gomes, Denise, Selva, Jacqueline, Vialard, François

Publikováno v: In Reproductive BioMedicine Online 2012 24(2):219-223

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Autor: Coignard, Juliette, Lush, Michael, Beesley, Jonathan, O’Mara, Tracy A., Dennis, Joe, Tyrer, Jonathan P., Barnes, Daniel R., McGuffog, Lesley, Leslie, Goska, Bolla, Manjeet K., Adank, Muriel A., Agata, Simona, Ahearn, Thomas, Aittomäki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Arun, Banu K., Augustinsson, Annelie, Azzollini, Jacopo, Barrowdale, Daniel, Baynes, Caroline, Becher, Heko, Bermisheva, Marina, Bernstein, Leslie, Białkowska, Katarzyna, Blomqvist, Carl, Bojesen, Stig E., Bonanni, Bernardo, Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldés, Trinidad, Caligo, Maria A., Campa, Daniele, Carter, Brian D., Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Bertrand, Ophélie, Caputo, Sandrine, Dupré, Anaïs, le Mentec, Marine, Belotti, Muriel, Birot, Anne-Marie, Buecher, Bruno, Fourme, Emmanuelle, Gauthier-Villars, Marion, Golmard, Lisa, Houdayer, Claude, Moncoutier, Virginie, de Pauw, Antoine, Saule, Claire, Sinilnikova, Olga, Mazoyer, Sylvie, Damiola, Francesca, Barjhoux, Laure, Verny-Pierre, Carole, Léone, M. lanie, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Caron, Olivier, Guillaud-Bataille, Marine, Bressac-de-Paillerets, Brigitte, Bignon, Yves- Jean, Uhrhammer, Nancy, Lasset, Christine, Bonadona, Valérie, Berthet, Pascaline, Vaur, Dominique, Castera, Laurent, Noguchi, Tetsuro, Popovici, Cornel, Sobol, Hagay, Bourdon, Violaine, Remenieras, Audrey, Noguès, Catherine, Coupier, Isabelle, Pujol, Pascal, Dumont, Aurélie, Révillion, Françoise, Adenis, Claude, Muller, Danièle, Barouk-Simonet, Emmanuelle, Bonnet, Françoise, Bubien, Virginie, Sevenet, Nicolas, Longy, Michel, Toulas, Christine, Guimbaud, Rosine, Gladieff, Laurence, Feillel, Viviane, Leroux, Dominique, Dreyfus, H. lène, Rebischung, Christine, Peysselon, Magalie, Coron, Fanny, Faivre, Laurence, Baurand, Amandine, Jacquot, Caroline, Bertolone, Geoffrey, Lizard, Sarab, Prieur, Fabienne, Lebrun, Marine, Kientz, Caroline, Ferrer, Sandra Fert, Mari, V. ronique, Vénat-Bouvet, Laurence, Delnatte, Capucine, Bézieau, Stéphane, Mortemousque, Isabelle, Coulet, Florence, Colas, Chrystelle, Soubrier, Florent, Warcoin, Mathilde, Sokolowska, Johanna, Bronner, Myriam, Collonge-Rame, Marie-Agnès, Damette, Alexandre, Gesta, Paul, Lallaoui, Hakima, Chiesa, Jean, Molina-Gomes, Denise, Ingster, Olivier, Gregory, Helen, Miedzybrodzka, Zosia, Morrison, Patrick J., Ong, Kai-ren, Donaldson, Alan, Rogers, Mark T., Kennedy, M. John, Porteous, Mary E., Brewer, Carole, Davidson, Rosemarie, Izatt, Louise, Brady, Angela, Barwell, Julian, Adlard, Julian, Foo, Claire, Lalloo, Fiona, Side, Lucy E., Eason, Jacqueline, Henderson, Alex, Walker, Lisa, Eeles, Rosalind A., Cook, Jackie, Snape, Katie, Eccles, Diana, Murray, Alex, McCann, Emma, Collée, J. Margriet, Conroy, Don M., Czene, Kamila, Daly, Mary B., Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Dörk, Thilo, dos-Santos-Silva, Isabel, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Eliassen, A. Heather, Engel, Christoph, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Flyger, Henrik, Fostira, Florentia, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M., Garber, Judy, Garcia-Barberan, Vanesa, García-Closas, Montserrat, García-Sáenz, José A., Gaudet, Mia M., Gayther, Simon A., Gehrig, Andrea, Georgoulias, Vassilios, Giles, Graham G., Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Greene, Mark H., Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hart, Steven N., He, Wei, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hopper, John L., Horcasitas, Darling J., Hulick, Peter J., Hunter, David J., Imyanitov, Evgeny N., Fox, Stephen, Campbell, Ian, Spurdle, Amanda, Webb, Penny, de Fazio, Anna, Tassell, Margaret, Kirk, Judy, Lindeman, Geoff, Price, Melanie, Southey, Melissa, Milne, Roger, Deb, Sid, Bowtell, David, van der Hout, Annemieke H., van den Ouweland, Ans M. W., Mensenkamp, Arjen R., van Deurzen, Carolien H. M., Kets, Carolien M., Seynaeve, Caroline, van Asperen, Christi J., Aalfs, Cora M., Gómez Garcia, Encarna B., van Leeuwen, Flora E., de Bock, G. H., Meijers-Heijboer, Hanne E. J., Obdeijn, Inge M., Gille, J. J. P., Oosterwijk, Jan C., Wijnen, Juul T., van der Kolk, Lizet E., Hooning, Maartje J., Ausems, Margreet G. E. M., Mourits, Marian J. E., Blok, Marinus J., Rookus, Matti A., van der Luijt, Rob B., van Cronenburg, T. C. T. E. F., van der Pol, Carmen C., Russell, Nicola S., Siesling, Sabine, Overbeek, Lucy, Wijnands, R., de Lange, Judith L., Clarke, Christine, Graham, Dinny, Sachchithananthan, Mythily, Marsh, Deborah, Scott, Rodney, Baxter, Robert, Yip, Desmond, Carpenter, Jane, Davis, Alison, Pathmanathan, Nirmala, Simpson, Peter, Jager, Agnes, Jakubowska, Anna, James, Paul A., Jensen, Uffe Birk, John, Esther M., Jones, Michael E., Kaaks, Rudolf, Kapoor, Pooja Middha, Karlan, Beth Y., Keeman, Renske, Khusnutdinova, Elza, Kiiski, Johanna I., Ko, Yon-Dschun, Kosma, Veli-Matti, Kraft, Peter, Kurian, Allison W., Laitman, Yael, Lambrechts, Diether, le Marchand, Loic, Lester, Jenny, Lesueur, Fabienne, Lindstrom, Tricia, Lopez-Fernández, Adria, Loud, Jennifer T., Luccarini, Craig, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Milne, Roger L., Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nielsen, Finn C., O’Brien, Katie M., Olopade, Olufunmilayo I., Olson, Janet E., Olsson, H. kan, Osorio, Ana, Ottini, Laura, Park-Simon, Tjoung-Won, Parsons, Michael T., Pedersen, Inge Sokilde, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Pharoah, Paul D. P., Phillips, Kelly-Anne, Polley, Eric C., Poppe, Bruce, Presneau, Nadege, Pujana, Miquel Angel, Punie, Kevin, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad U., Rennert, Gad, Rennert, Hedy S., Robson, Mark, Romero, Atocha, Rossing, Maria, Saloustros, Emmanouil, Sandler, Dale P., Santella, Regina, Scheuner, Maren T., Schmidt, Marjanka K., Schmidt, Gunnar, Scott, Christopher, Sharma, Priyanka, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Steinsnyder, Zoe, Stone, Jennifer, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Terry, Mary Beth, Teulé, Alex, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Torres, Diana, Trainer, Alison H., Truong, Thérèse, Tung, Nadine, Vachon, Celine M., Vega, Ana, Vijai, Joseph, Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wendt, Camilla, Wolk, Alicja, Yadav, Siddhartha, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Park, Sue K., Thomassen, Mads, Offit, Kenneth, Schmutzler, Rita K., Couch, Fergus J., Simard, Jacques, Chenevix-Trench, Georgia, Easton, Douglas F., Andrieu, Nadine, Antoniou, Antonis C.

Publikováno v: Nature Communications, 12(1). NATURE RESEARCH
Repisalud
Instituto de Salud Carlos III (ISCIII)
Nature Communications, 12(1):1078. Nature Publishing Group
Coignard, J, Lush, M, Beesley, J, O’Mara, T A, Dennis, J, Tyrer, J P, Barnes, D R, McGuffog, L, Leslie, G, Bolla, M K, Adank, M A, Agata, S, Ahearn, T, Aittomäki, K, Andrulis, I L, Anton-Culver, H, Arndt, V, Arnold, N, Aronson, K J, Arun, B K, Augustinsson, A, Azzollini, J, Barrowdale, D, Baynes, C, Becher, H, Bermisheva, M, Bernstein, L, Białkowska, K, Blomqvist, C, Bojesen, S E, Bonanni, B, Borg, A, Brauch, H, Brenner, H, Burwinkel, B, Buys, S S, Caldés, T, Caligo, M A, Campa, D, Carter, B D, Castelao, J E, Chang-Claude, J, Chanock, S J, Chung, W K, Claes, K B M, Clarke, C L, Bertrand, O, Caputo, S, Dupré, A, le Mentec, M, Belotti, M, Birot, A-M, Buecher, B, Fourme, E, Gauthier-Villars, M, Golmard, L, Houdayer, C, Moncoutier, V, de Pauw, A, Saule, C, Sinilnikova, O, Mazoyer, S, Damiola, F, Barjhoux, L, Verny-Pierre, C, Léone, M L, Boutry-Kryza, N, Calender, A, Giraud, S, Caron, O, Guillaud-Bataille, M, Bressac-de-Paillerets, B, Bignon, Y J, Uhrhammer, N, Lasset, C, Bonadona, V, Berthet, P, Vaur, D, Castera, L, Noguchi, T, Popovici, C, Sobol, H, Bourdon, V, Noguchi, T, Remenieras, A, Noguès, C, Coupier, I, Pujol, P, Dumont, A, Révillion, F, Adenis, C, Muller, D, Barouk-Simonet, E, Bonnet, F, Bubien, V, Sevenet, N, Longy, M, Toulas, C, Guimbaud, R, Gladieff, L, Feillel, V, Leroux, D, Dreyfus, H L, Rebischung, C, Peysselon, M, Coron, F, Faivre, L, Baurand, A, Jacquot, C, Bertolone, G, Lizard, S, Prieur, F, Lebrun, M, Kientz, C, Ferrer, S F, Mari, V R, Vénat-Bouvet, L, Delnatte, C, Bézieau, S, Mortemousque, I, Coulet, F, Colas, C, Soubrier, F, Warcoin, M, Sokolowska, J, Bronner, M, Collonge-Rame, M-A, Damette, A, Gesta, P, Lallaoui, H, Chiesa, J, Molina-Gomes, D, Ingster, O, Gregory, H, Miedzybrodzka, Z, Morrison, P J, Ong, K, Donaldson, A, Rogers, M T, Kennedy, M J, Porteous, M E, Brewer, C, Davidson, R, Izatt, L, Brady, A, Barwell, J, Adlard, J, Foo, C, Lalloo, F, Side, L E, Eason, J, Henderson, A, Walker, L, Eeles, R A, Cook, J, Snape, K, Eccles, D, Murray, A, McCann, E, Collée, J M, Conroy, D M, Czene, K, Daly, M B, Devilee, P, Diez, O, Ding, Y C, Domchek, S M, Dörk, T, dos-Santos-Silva, I, Dunning, A M, Dwek, M, Eccles, D M, Eliassen, A H, Engel, C, Eriksson, M, Evans, D G, Fasching, P A, Flyger, H, Fostira, F, Friedman, E, Fritschi, L, Frost, D, Gago-Dominguez, M, Gapstur, S M, Garber, J, Garcia-Barberan, V, García-Closas, M, García-Sáenz, J A, Gaudet, M M, Gayther, S A, Gehrig, A, Georgoulias, V, Giles, G G, Godwin, A K, Goldberg, M S, Goldgar, D E, González-Neira, A, Greene, M H, Guénel, P, Haeberle, L, Hahnen, E, Haiman, C A, Håkansson, N, Hall, P, Hamann, U, Harrington, P A, Hart, S N, He, W, Hogervorst, F B L, Hollestelle, A, Hopper, J L, Horcasitas, D J, Hulick, P J, Hunter, D J, Imyanitov, E N, Fox, S, Campbell, I, Spurdle, A, Webb, P, de Fazio, A, Tassell, M, Kirk, J, Lindeman, G, Price, M, Southey, M, Milne, R, Deb, S, Bowtell, D, van der Hout, A H, van den Ouweland, A M W, Mensenkamp, A R, van Deurzen, C H M, Kets, C M, Seynaeve, C, van Asperen, C J, Aalfs, C M, Gómez Garcia, E B, van Leeuwen, F E, de Bock, G H, Meijers-Heijboer, H E J, Obdeijn, I M, Collée, J M, Gille, J J P, Oosterwijk, J C, Wijnen, J T, van der Kolk, L E, Hooning, M J, Ausems, M G E M, Mourits, M J E, Blok, M J, Rookus, M A, Adank, M A, van der Luijt, R B, van Cronenburg, T C T E F, van der Pol, C C, Russell, N S, Siesling, S, Overbeek, L, Wijnands, R, de Lange, J L, Clarke, C, Graham, D, Sachchithananthan, M, Marsh, D, Scott, R, Baxter, R, Yip, D, GEMO Study Collaborators, Carpenter, J, EMBRACE Collaborators, Davis, A, KConFab Investigators, HEBON Investigators, Pathmanathan, N, ABCTB Investigators, Simpson, P, Jager, A, Jakubowska, A, James, P A, Jensen, U B, John, E M, Jones, M E, Kaaks, R, Kapoor, P M, Karlan, B Y, Keeman, R, Khusnutdinova, E, Kiiski, J I, Ko, Y-D, Kosma, V-M, Kraft, P, Kurian, A W, Laitman, Y, Lambrechts, D, le Marchand, L, Lester, J, Lesueur, F, Lindstrom, T, Lopez-Fernández, A, Loud, J T, Luccarini, C, Mannermaa, A, Manoukian, S, Margolin, S, Martens, J W M, Mebirouk, N, Meindl, A, Miller, A, Milne, R L, Montagna, M, Nathanson, K L, Neuhausen, S L, Nevanlinna, H, Nielsen, F C, O’Brien, K M, Olopade, O I, Olson, J E, Olsson, H K, Osorio, A, Ottini, L, Park-Simon, T-W, Parsons, M T, Pedersen, I S, Peshkin, B, Peterlongo, P, Peto, J, Pharoah, P D P, Phillips, K-A, Polley, E C, Poppe, B, Presneau, N, Pujana, M A, Punie, K, Radice, P, Rantala, J, Rashid, M U, Rennert, G, Rennert, H S, Robson, M, Romero, A, Rossing, M, Saloustros, E, Sandler, D P, Santella, R, Scheuner, M T, Schmidt, M K, Schmidt, G, Scott, C, Sharma, P, Soucy, P, Southey, M C, Spinelli, J J, Steinsnyder, Z, Stone, J, Stoppa-Lyonnet, D, Swerdlow, A, Tamimi, R M, Tapper, W J, Taylor, J A, Terry, M B, Teulé, A, Thull, D L, Tischkowitz, M, Toland, A E, Torres, D, Trainer, A H, Truong, T, Tung, N, Vachon, C M, Vega, A, Vijai, J, Wang, Q, Wappenschmidt, B, Weinberg, C R, Weitzel, J N, Wendt, C, Wolk, A, Yadav, S, Yang, X R, Yannoukakos, D, Zheng, W, Ziogas, A, Zorn, K K, Park, S K, Thomassen, M, Offit, K, Schmutzler, R K, Couch, F J, Simard, J, Chenevix-Trench, G, Easton, D F, Andrieu, N & Antoniou, A C 2021, ' A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers ', Nature Communications, vol. 12, no. 1, 1078 . https://doi.org/10.1038/s41467-020-20496-3
NATURE COMMUNICATIONS
Coignard, J, Lush, M, Beesley, J, O’Mara, T A, Dennis, J, Tyrer, J P, Barnes, D R, McGuffog, L, Leslie, G, Bolla, M K, Adank, M A, Agata, S, Ahearn, T, Aittomäki, K, Andrulis, I L, Anton-Culver, H, Arndt, V, Arnold, N, Aronson, K J, Arun, B K, Augustinsson, A, Azzollini, J, Barrowdale, D, Baynes, C, Becher, H, Bermisheva, M, Bernstein, L, Białkowska, K, Blomqvist, C, Bojesen, S E, Bonanni, B, Borg, A, Brauch, H, Brenner, H, Burwinkel, B, Buys, S S, Caldés, T, Caligo, M A, Campa, D, Carter, B D, Castelao, J E, Chang-Claude, J, Chanock, S J, Chung, W K, Claes, K B M, Clarke, C, Bertrand, O, Caputo, S, Dupré, A, Le Mentec, M, Belotti, M, Birot, A M, Buecher, B, Fourme, E, Gauthier-Villars, M, Golmard, L, Houdayer, C, Moncoutier, V, de Pauw, A, Saule, C, Sinilnikova, O, Mazoyer, S, Damiola, F, Barjhoux, L, Verny-Pierre, C, Léone, M, Boutry-Kryza, N, Calender, A, Giraud, S, Caron, O, Guillaud-Bataille, M, Bressac-de-Paillerets, B, Bignon, Y J, Uhrhammer, N, Lasset, C, Bonadona, V, Berthet, P, Vaur, D, Castera, L, Noguchi, T, Popovici, C, Sobol, H, Bourdon, V, Noguchi, T, Remenieras, A, Noguès, C, Coupier, I, Pujol, P, Dumont, A, Révillion, F, Adenis, C, Muller, D, Barouk-Simonet, E, Bonnet, F, Bubien, V, Sevenet, N, Longy, M, Toulas, C, Guimbaud, R, Gladieff, L, Feillel, V, Leroux, D, Dreyfus, H, Rebischung, C, Peysselon, M, Coron, F, Faivre, L, Baurand, A, Jacquot, C, Bertolone, G, Lizard, S, Prieur, F, Lebrun, M, Kientz, C, Ferrer, S F, Mari, V, Vénat-Bouvet, L, Delnatte, C, Bézieau, S, Mortemousque, I, Coulet, F, Colas, C, Soubrier, F, Warcoin, M, Sokolowska, J, Bronner, M, Collonge-Rame, M A, Damette, A, Gesta, P, Lallaoui, H, Chiesa, J, Molina-Gomes, D, Ingster, O, Gregory, H, Miedzybrodzka, Z, Morrison, P J, Ong, K R, Donaldson, A, Rogers, M T, Kennedy, M J, Porteous, M E, Brewer, C, Davidson, R, Izatt, L, Brady, A, Barwell, J, Adlard, J, Foo, C, Lalloo, F, Side, L E, Eason, J, Henderson, A, Walker, L, Eeles, R A, Cook, J, Snape, K, Eccles, D M, Murray, A, McCann, E, Collée, J M, Conroy, D M, Czene, K, Daly, M B, Devilee, P, Diez, O, Ding, Y C, Domchek, S M, Dörk, T, dos-Santos-Silva, I, Dunning, A M, Dwek, M, Eliassen, A H, Engel, C, Eriksson, M, Evans, D G, Fasching, P A, Flyger, H, Fostira, F, Friedman, E, Fritschi, L, Frost, D, Gago-Dominguez, M, Gapstur, S M, Garber, J, Garcia-Barberan, V, García-Closas, M, García-Sáenz, J A, Gaudet, M M, Gayther, S A, Gehrig, A, Georgoulias, V, Giles, G G, Godwin, A K, Goldberg, M S, Goldgar, D E, González-Neira, A, Greene, M H, Guénel, P, Haeberle, L, Hahnen, E, Haiman, C A, Håkansson, N, Hall, P, Hamann, U, Harrington, P A, Hart, S N, He, W, Hogervorst, F B L, Hollestelle, A, Hopper, J L, Horcasitas, D J, Hulick, P J, Hunter, D J, Imyanitov, E N, Fox, S, Campbell, I, Spurdle, A, Webb, P, de Fazio, A, Tassell, M, Kirk, J, Lindeman, G, Price, M, Southey, M, Milne, R L, Deb, S, Bowtell, D, van der Hout, A H, van den Ouweland, A M W, Mensenkamp, A R, van Deurzen, C H M, Kets, C M, Seynaeve, C, van Asperen, C J, Aalfs, C M, Gómez Garcia, E B, van Leeuwen, F E, de Bock, G H, Meijers-Heijboer, H E J, Obdeijn, I M, Collée, J M, Gille, J J P, Oosterwijk, J C, Wijnen, J T, van der Kolk, L E, Hooning, M J, Ausems, M G E M, Mourits, M J E, Blok, M J, Rookus, M A, Adank, M A, van der Luijt, R B, van Cronenburg, T C T E F, van der Pol, C C, Russell, N S, Siesling, S, Overbeek, L, Wijnands, R, de Lange, J L, Clarke, C, Graham, D, Sachchithananthan, M, Marsh, D, Scott, R, Baxter, R, Yip, D, Carpenter, J, Davis, A, Pathmanathan, N, Simpson, P, Jager, A, Jakubowska, A, James, P A, Jensen, U B, John, E M, Jones, M E, Kaaks, R, Kapoor, P M, Karlan, B Y, Keeman, R, Khusnutdinova, E, Kiiski, J I, Ko, Y D, Kosma, V M, Kraft, P, Kurian, A W, Laitman, Y, Lambrechts, D, Le Marchand, L, Lester, J, Lesueur, F, Lindstrom, T, Lopez-Fernández, A, Loud, J T, Luccarini, C, Mannermaa, A, Manoukian, S, Margolin, S, Martens, J W M, Mebirouk, N, Meindl, A, Miller, A, Montagna, M, Nathanson, K L, Neuhausen, S L, Nevanlinna, H, Nielsen, F C, O’Brien, K M, Olopade, O I, Olson, J E, Olsson, H, Osorio, A, Ottini, L, Park-Simon, T W, Parsons, M T, Pedersen, I S, Peshkin, B, Peterlongo, P, Peto, J, Pharoah, P D P, Phillips, K A, Polley, E C, Poppe, B, Presneau, N, Pujana, M A, Punie, K, Radice, P, Rantala, J, Rashid, M U, Rennert, G, Rennert, H S, Robson, M, Romero, A, Rossing, M, Saloustros, E, Sandler, D P, Santella, R, Scheuner, M T, Schmidt, M K, Schmidt, G, Scott, C, Sharma, P, Soucy, P, Spinelli, J J, Steinsnyder, Z, Stone, J, Stoppa-Lyonnet, D, Swerdlow, A, Tamimi, R M, Tapper, W J, Taylor, J A, Terry, M B, Teulé, A, Thull, D L, Tischkowitz, M, Toland, A E, Torres, D, Trainer, A H, Truong, T, Tung, N, Vachon, C M, Vega, A, Vijai, J, Wang, Q, Wappenschmidt, B, Weinberg, C R, Weitzel, J N, Wendt, C, Wolk, A, Yadav, S, Yang, X R, Yannoukakos, D, Zheng, W, Ziogas, A, Zorn, K K, Park, S K, Thomassen, M, Offit, K, Schmutzler, R K, Couch, F J, Simard, J, Chenevix-Trench, G, Easton, D F, Andrieu, N, Antoniou, A C, GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators & ABCTB Investigators 2021, ' A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers ', Nature Communications, vol. 12, no. 1, 1078 . https://doi.org/10.1038/s41467-020-20496-3
Nature Communications
Dipòsit Digital de la UB
Universidad de Barcelona
GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators & ABCTB Investigators 2021, ' A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers ', Nature Communications, vol. 12, no. 1, 1078 . https://doi.org/10.1038/s41467-020-20496-3
Nature Communications, Vol 12, Iss 1, Pp 1-22 (2021)
Scientia
Nature Communications, 12:1078. Nature Publishing Group
Nature communications, 12(1):1078. Nature Publishing Group
GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators & ABCTB Investigators 2021, ' A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers ', Nature Communications, vol. 12, no. 1, 1078 . https://doi.org/10.1038/s41467-020-20496-3
Nature Communications, 12, 1
Coignard, J, Lush, M, Beesley, J, O’mara, T A, Dennis, J, Tyrer, J P, Barnes, D R, Mcguffog, L, Leslie, G, Bolla, M K, Adank, M A, Agata, S, Ahearn, T, Aittomäki, K, Andrulis, I L, Anton-culver, H, Arndt, V, Arnold, N, Aronson, K J, Arun, B K, Augustinsson, A, Azzollini, J, Barrowdale, D, Baynes, C, Becher, H, Bermisheva, M, Bernstein, L, Białkowska, K, Blomqvist, C, Bojesen, S E, Bonanni, B, Borg, A, Brauch, H, Brenner, H, Burwinkel, B, Buys, S S, Caldés, T, Caligo, M A, Campa, D, Carter, B D, Castelao, J E, Chang-claude, J, Chanock, S J, Chung, W K, Claes, K B M, Clarke, C L, Collée, J M, Conroy, D M, Czene, K, Daly, M B, Devilee, P, Diez, O, Ding, Y C, Domchek, S M, Dörk, T, Dos-santos-silva, I, Dunning, A M, Dwek, M, Eccles, D M, Eliassen, A H, Engel, C, Eriksson, M, Evans, D G, Fasching, P A, Flyger, H, Fostira, F, Friedman, E, Fritschi, L, Frost, D, Gago-dominguez, M, Gapstur, S M, Garber, J, Garcia-barberan, V, García-closas, M, García-sáenz, J A, Gaudet, M M, Gayther, S A, Gehrig, A, Georgoulias, V, Giles, G G, Godwin, A K, Goldberg, M S, Goldgar, D E, González-neira, A, Greene, M H, Guénel, P, Haeberle, L, Hahnen, E, Haiman, C A, Håkansson, N, Hall, P, Hamann, U, Harrington, P A, Hart, S N, He, W, Hogervorst, F B L, Hollestelle, A, Hopper, J L, Horcasitas, D J, Hulick, P J, Hunter, D J, Imyanitov, E N, Jager, A, Jakubowska, A, James, P A, Jensen, U B, John, E M, Jones, M E, Kaaks, R, Kapoor, P M, Karlan, B Y, Keeman, R, Khusnutdinova, E, Kiiski, J I, Ko, Y, Kosma, V, Kraft, P, Kurian, A W, Laitman, Y, Lambrechts, D, Le Marchand, L, Lester, J, Lesueur, F, Lindstrom, T, Lopez-fernández, A, Loud, J T, Luccarini, C, Mannermaa, A, Manoukian, S, Margolin, S, Martens, J W M, Mebirouk, N, Meindl, A, Miller, A, Milne, R L, Montagna, M, Nathanson, K L, Neuhausen, S L, Nevanlinna, H, Nielsen, F C, O’brien, K M, Olopade, O I, Olson, J E, Olsson, H, Osorio, A, Ottini, L, Park-simon, T, Parsons, M T, Pedersen, I S, Peshkin, B, Peterlongo, P, Peto, J, Pharoah, P D P, Phillips, K, Polley, E C, Poppe, B, Presneau, N, Pujana, M A, Punie, K, Radice, P, Rantala, J, Rashid, M U, Rennert, G, Rennert, H S, Robson, M, Romero, A, Rossing, M, Saloustros, E, Sandler, D P, Santella, R, Scheuner, M T, Schmidt, M K, Schmidt, G, Scott, C, Sharma, P, Soucy, P, Southey, M C, Spinelli, J J, Steinsnyder, Z, Stone, J, Stoppa-lyonnet, D, Swerdlow, A, Tamimi, R M, Tapper, W J, Taylor, J A, Terry, M B, Teulé, A, Thull, D L, Tischkowitz, M, Toland, A E, Torres, D, Trainer, A H, Truong, T, Tung, N, Vachon, C M, Vega, A, Vijai, J, Wang, Q, Wappenschmidt, B, Weinberg, C R, Weitzel, J N, Wendt, C, Wolk, A, Yadav, S, Yang, X R, Yannoukakos, D, Zheng, W, Ziogas, A, Zorn, K K, Park, S K, Thomassen, M, Offit, K, Schmutzler, R K, Couch, F J, Simard, J, Chenevix-trench, G, Easton, D F, Andrieu, N & Antoniou, A C 2021, ' A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers ', Nature Communications, vol. 12, no. 1 . https://doi.org/10.1038/s41467-020-20496-3
Nature Communications, 12

Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Othe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19019e2b7195be3e05f9cb117543627e
https://www.nature.com/articles/s41467-020-20496-3.pdf

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