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Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences.

Autor: Velthuizen, Mary E.¹ (AUTHOR), van der Luijt, Rob B.^1,2 (AUTHOR), de Vries, Beja J.¹ (AUTHOR), Koudijs, Marco J.¹ (AUTHOR), Bleiker, Eveline M. A.^2,3,4 (AUTHOR), Ausems, Margreet G. E. M.¹ (AUTHOR) M.G.E.M.Ausems@umcutrecht.nl

Publikováno v: Hereditary Cancer in Clinical Practice. 1/19/2021, Vol. 19 Issue 1, p1-9. 9p.

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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

Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations

Autor: Bancroft, Elizabeth K, Saya, Sibel, Page, Elizabeth C, Myhill, Kathryn, Thomas, Sarah, Pope, Jennifer, Chamberlain, Anthony, Hart, Rachel, Glover, Wayne, Cook, Jackie, Rosario, Derek J, Helfand, Brian T, Selkirk, Christina Hutten, Davidson, Rosemarie, Longmuir, Mark, Eccles, Diana M, Gadea, Neus, Brewer, Carole, Barwell, Julian, Salinas, Monica, Greenhalgh, Lynn, Tischkowitz, Marc, Henderson, Alex, Evans, David Gareth, Buys, Saundra S, Eeles, Rosalind A, Aaronson, Neil K, Eeles, Rosalind, Bancroft, Elizabeth, Page, Elizabeth, Kote-Jarai, Zsofia, Ardern-Jones, Audrey, Bangma, Chris, Castro, Elena, Dearnaley, David, Falconer, Alison, Foster, Christopher, Gronberg, Henrik, Hamdy, Freddie C, Johannsson, Oskar Thor, Khoo, Vincent, Eccles, Diana, Lilja, Hans, Evans, Gareth, Eyfjord, Jorunn, Lubinski, Jan, Maehle, Lovise, Mikropoulos, Christos, Millner, Alan, Mitra, Anita, Offman, Judith, Moynihan, Clare, Rennert, Gad, Suri, Mohnish, Dias, Alex, Taylor, Natalie, D'Mello, Lucia, Pope, Jenny, James, Paul, Mitchell, Gillian, Shanley, Sue, Richardson, Kate, McKinley, Joanne, Petelin, Lara, Murphy, Morgan, Mascarenhas, Lyon, Murphy, Declan, Lam, Jimmy, Taylor, Louise, Miller, Cathy, Stapleton, Alan, Chong, Michael, Suthers, Graeme, Poplawski, Nicola, Tucker, Katherine, Andrews, Lesley, Duffy, Jessica, Millard, Richard, Ward, Robyn, Williams, Rachel, Stricker, Phillip, Kirk, Judy, Bowman, Michelle, Patel, Manish, Harris, Marion, O'Connell, Shona, Hunt, Clare, Smyth, Courtney, Frydenberg, Mark, Lindeman, Geoffrey, Shackleton, Kylie, Morton, Catherine, Susman, Rachel, McGaughran, Julie, Boon, Melanie, Pachter, Nicholas, Townshend, Sharron, Schofield, Lyn, Nicholls, Cassandra, Spigelman, Allan, Gleeson, Margaret, Amor, David, Burke, Jo, Patterson, Briony, Swindle, Peter, Scott, Rodney, Foulkes, William, Boshari, Talia, Aprikian, Armen, Jensen, Thomas, Bojeson, Anders, Osther, Palle, Skytte, Anne-Bine, Cruger, Dorthe, Tondering, Majbritt Kure, Gerdes, Anne-Marie, Schmutzler, Rita, Rhiem, Kerstin, Wihler, Petra, Kast, K, Griebsch, C, Johannsson, Oskar, Stefansdottir, Vigdis, Murthy, Vedang, Sarin, Rajiv, Awatagiri, Kasturi, Ghonge, Sujata, Kowtal, Pradnya, Mulgund, Gouri, Gallagher, David, Bambury, Richard, Farrell, Michael, Gallagher, Fergal, Kiernan, Ingrid, Friedman, Eitan, Chen-Shtoyerman, Rakefet, Basevitch, Alon, Leibovici, Dan, Melzer, Ehud, Ben-Yehoshua, Sagi Josefsberg, Nicolai, Nicola, Radice, Paolo, Valdagni, Riccardo, Magnani, Tiziana, Gay, Simona, Teo, Soo Hwang, Tan, Hui Meng, Yoon, Sook-Yee, Thong, Meow Keong, Vasen, Hans, Ringleberg, Janneke, van Asperen, Christi, Kiemeney, Bart, van Zelst-Stams, Wendy, Ausems, Margreet GEM, van der Luijt, Rob B, van Os, Theo, Ruijs, Marielle WG, Adank, Muriel A, Oldenburg, Rogier A, Helderman-van den Enden, A Paula TJM, Caanen, BAH, Oosterwijk, Jan C, Moller, Pal, Brennhovd, Bjorn, Medvik, Heidi, Hanslien, Eldbjorg, Grindedal, Eli Marie, Cybulski, Cezary, Wokolorczyk, Dominika, Teixeira, Manuel, Maia, Sofia, Peixoto, Ana, Henrique, Rui, Oliveira, Jorge, Goncalves, Nuno, Araujo, Luis, Seixas, Manuela, Souto, Joao Paulo, Nogueira, Pedro, Copakova, Lucia, Zgajnar, Janez, Krajc, Mateja, Vrecar, Alenka, Capella, Gabriel, Ramon y Cajal, Teresa, Fisas, David, Mora, Josefina, Esquena, Salvador, Balmana, Judith, Morote, Juan, Liljegren, Annelie, Hjalm-Eriksson, Marie, Ekdahl, Karl-Johan, Carlsson, Stefan, George, Angela, Kemp, Zoe, Wiggins, Jennifer, Moss, Cathryn, Van As, Nicholas, Thompson, Alan, Ogden, Chris, Woodhouse, Christopher, Kumar, Pardeep, Evans, D Gareth, Bulman, Barbara, Rothwell, Jeanette, Tricker, Karen, Wise, Gillian, Mercer, Catherine, McBride, Donna, Costello, Philandra, Pearce, Allison, Torokwa, Audrey, Paterson, Joan, Clowes, Virginia, Taylor, Amy, Newcombe, Barbara, Walker, Lisa, Halliday, Dorothy, Stayner, Barbara, Fleming-Brown, D, Snape, Katie, Hanson, Helen, Hodgson, Shirley, Brice, Glen, Homfray, Tessa, Hammond, Carrie, Kohut, Kelly, Anjum, Uruj, Dearing, Audrey, Mencias, Mark, Potter, Alison, Renton, Caroline, Searle, Anne, Hill, Kathryn, Goodman, Selina, Garcia, Lynda, Devlin, Gemma, Everest, Sarah, Nadolski, Maria, Douglas, Fiona, Jobson, Irene, Paez, Edgar, Donaldson, Alan, Tomkins, Sue, Langman, Caroline, Jacobs, Chris, Pichert, Gabriella, Shaw, Adam, Kulkarni, Anju, Tripathi, Vishakha, Rose, Sarah, Compton, Cecilia, Watson, Michelle, Reinholtz, Cherylin, Brady, Angela, Dorkins, Huw, Melville, Athalie, Kosicka-Slawinska, Monika, Cummings, Carole, Kiesel, Vicki, Bartlett, Marion, Randhawa, Kashmir, Ellery, Natalie, Side, Lucy, Male, Alison, Simon, Kate, Rees, Katie, Tidey, Lizzie, Gurasashvili, Jana, Nevitt, Louise, Ingram, Stuart, Howell, Alice, Rosario, Derek, Catto, James, Howson, Joanne, Ong, Kai-Ren, Chapman, Cyril, Cole, Trevor, Heaton, Tricia, Hoffman, Jonathan, Burgess, Lucy, Huber, Camilla, Islam, Farah, Watt, Cathy, Duncan, Alexis, Kockelbergh, Roger, Mzazi, Shumikazi, Dineen, Amy, Sattar, Ayisha, Kaemba, Beckie, Sidat, Zahirah, Patel, Nafisa, Siguake, Kas, Birt, Angela, Poultney, Una, Umez-Eronini, Nkem, Mom, Jaswant, Sutton, Vivienne, Cornford, Philip, Bermingham, Nicola, Yesildag, Pembe, Treherne, Katy, Griffiths, Julie, Cogley, Lyn, Gott, Hannah, Rubinstein, Wendy S, Hulick, Peter, McGuire, Michael, Shevrin, Daniel, Kaul, Karen, Weissman, Scott, Newlin, Anna, Vogel, Kristen, Weiss, Shelly, Hook, Nicole, Buys, Saundra, Goldgar, David, Conner, Tom, Venne, Vickie, Stephenson, Robert, Dechet, Christopher, Domchek, Susan, Powers, Jacquelyn, Rustgi, Neil, Strom, Sara, Arun, Banu, Davis, John W, Yamamura, Yuko, Obeid, Elias, Giri, Veda, Gross, Laura, Bealin, Lisa, Cooney, Kathy, Stoffel, Elena, Okoth, Linda, Comm, IMPACT Study Steering, Collaborators, IMPACT

Publikováno v: Bancroft, E K, Saya, S, Page, E, Myhill, K, Thomas, S, Pope, J, Chamberlain, A, Hart, R, Glover, W, Cook, J, Rosario, D J, Helfand, B T, Selkirk, C H, Davidson, R, Longmuir, M, Eccles, D M, Gadea, N, Brewer, C, Barwell, J, Salinas, M, Greenhalgh, L, Tischkowitz, M, Henderson, A, Evans, D G, Buys, S S, Eeles, R, Aaronson, N K, Jensen, T, Bojeson, A, Osther, P, Skytte, A-B, Cruger, D, Tondering, M K, Gerdes, A-M & IMPACT Collaborators 2019, ' Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations ', BJU International, vol. 123, no. 2, pp. 284-292 . https://doi.org/10.1111/bju.14412
BJU International, 123, 284-292
BJU International, 123(2), 284-292. Wiley
Bju International
BJU International, 123, 2, pp. 284-292
Dipòsit Digital de la UB
Universidad de Barcelona
BJU International, 123(2), 284-292. Wiley-Blackwell Publishing Ltd
BJU INTERNATIONAL
Bancroft, E K, Saya, S, Page, E C, Myhill, K, Thomas, S, Pope, J, Chamberlain, A, Hart, R, Glover, W, Cook, J, Rosario, D J, Helfand, B T, Selkirk, C H, Davidson, R, Longmuir, M, Eccles, D M, Gadea, N, Brewer, C, Barwell, J, Salinas, M, Greenhalgh, L, Tischkowitz, M, Henderson, A, Evans, D G, Buys, S S, IMPACT Study Steering Comm & IMPACT Collaborators 2019, ' Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations ', B J U International, vol. 123, no. 2, pp. 284-292 . https://doi.org/10.1111/bju.14412
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

OBJECTIVES: To report the baseline results of a longitudinal psychosocial study that forms part of the IMPACT study, a multi-national investigation of targeted prostate cancer (PCa) screening among men with a known pathogenic germline mutation in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f8885bed79ffd2bf8e3e7c4b35cbbda
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/201279