Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease

Autor: Jiao, Yue, Truong, Thérèse, Eon-Marchais, Séverine, Mebirouk, Noura, Caputo, Sandrine M., Dondon, Marie-Gabrielle, Karimi, Mojgan, Le Gal, Dorothée, Beauvallet, Juana, Le Floch, Édith, Dandine-Roulland, Claire, Bacq-Daian, Delphine, Olaso, Robert, Albuisson, Juliette, Audebert-Bellanger, Séverine, Berthet, Pascaline, Bonadona, Valérie, Buecher, Bruno, Caron, Olivier, Cavaillé, Mathias, Chiesa, Jean, Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Coupier, Isabelle, Delnatte, Capucine, De Pauw, Antoine, Dreyfus, Hélène, Fert-Ferrer, Sandra, Gauthier-Villars, Marion, Gesta, Paul, Giraud, Sophie, Gladieff, Laurence, Golmard, Lisa, Lasset, Christine, Lejeune-Dumoulin, Sophie, Léoné, Mélanie, Limacher, Jean-Marc, Lortholary, Alain, Luporsi, Élisabeth, Mari, Véronique, Maugard, Christine M., Mortemousque, Isabelle, Mouret-Fourme, Emmanuelle, Nambot, Sophie, Noguès, Catherine, Popovici, Cornel, Prieur, Fabienne, Pujol, Pascal, Sevenet, Nicolas, Sobol, Hagay, Toulas, Christine, Uhrhammer, Nancy, Vaur, Dominique, Venat, Laurence, Boland-Augé, Anne, Guénel, Pascal, Deleuze, Jean-François, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Lesueur, Fabienne

Publikováno v: In European Journal of Cancer January 2023 179:76-86

Severe PATCHED1 Deficiency in Cancer-Prone Gorlin Patient Cells Results in Intrinsic Radiosensitivity

Autor: Vulin, Adeline, Sedkaoui, Melissa, Moratille, Sandra, Sevenet, Nicolas, Soularue, Pascal, Rigaud, Odile, Guibbal, Laure, Dulong, Joshua, Jeggo, Penny, Deleuze, Jean-François, Lamartine, Jérôme, Martin, Michèle T.

Publikováno v: In International Journal of Radiation Oncology, Biology, Physics 1 October 2018 102(2):417-425

The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Autor: Lakeman, Inge M. M., Van Den Broek, Alexandra J., Vos, Juliën A. M., Barnes, Daniel R., Adlard, Julian, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Balmaña, Judith, Barrowdale, Daniel, Giraud, Sophie, Golmard, Lisa, Hake, Christopher R., Houdayer, Claude, Risch, Harvey A., Lasset, Christine, Laurent, Maïté, Spurdle, Amanda B., Hooning, Maartje J., Hopper, John L., Kets, Carolien M., Leroux, Dominique, Longy, Michel, Mari, Véronique, Mazoyer, Sylvie, Mebirouk, Noura, Mortemousque, Isabelle, Blok, Marinus J., Prieur, Fabienne, Hamann, Ute, Pujol, Pascal, Konstantopoulou, Irene, Heemskerk Gerritsen, Bernadette A. M., Isaacs, Claudine, Saule, Claire, Piedmonte, Marion, Schuster, Helene, Sevenet, Nicolas, Sobol, Hagay, Sokolowska, Johanna, Gómez Garcia, Encarna B., Venat Bouvet, Laurence, Claes, Kathleen B. M., Ahmed, Munaza, Teixeira, Manuel R., Barwell, Julian, Brady, Angela, Izatt, Louise, Hogervorst, Frans B. L., Brennan, Paul, Harrington, Patricia A., Henderson, Alex, Hodgson, Shirley, Kwong, Ava, Borg, Ake, Kennedy, M. John, Porteous, Mary E., Rogers, Mark T., Side, Lucy E., Snape, Katie, Walker, Lisa, Collée, J. Margriet, Jakubowska, Anna, Couch, Fergus J., Hahnen, Eric, Daly, Mary B., Dennis, Joe, Teo, Soo Hwang, Jensen, Uffe Birk, Rantala, Johanna, Dhawan, Mallika, Benitez, Javier, Domchek, Susan M., Eeles, Ros, Engel, Christoph, Legrand, Clémentine, Evans, D. Gareth, James, Paul A., Feliubadaló i Elorza, Maria Lídia, Teulé-Vega, Àlex, Foretova, Lenka, Castera, Laurent, Friedman, Eitan, Frost, Debra, Rennert, Gad, Ganz, Patricia A., Leslie, Goska, Garber, Judy, Hulick, Peter J., Imyanitov, Evgeny N., Glendon, Gord, Thomassen, Mads, Janavicius, Ramunas, Mulligan, Anna Marie, Hollestelle, Antoinette, Jager, Agnes, Koppert, Linetta B., Cook, Jackie, Koudijs, Marco, Kriege, Mieke, Meijers Heijboer, Hanne E. J., Schmutzler, Rita K., Mensenkamp, Arjen R., Dunning, Alison M., Mooij, Thea M., Oosterwijk, Jan C., Caux Moncoutier, Virginie, Singer, Christian F., Berthet, Pascaline, Caldés, Trinidad, Van den Ouweland, Ans M. W., Van der Baan, Frederieke H., Van der Hout, Annemieke H., Van der Kolk, Lizet E., Van der Luijt, Rob B., Thull, Darcy L., Van Deurzen, Carolien H. M., Sharma, Priyanka, Van Doorn, Helena C., Bignon, Yves Jean, Colas, Chrystelle, Van Engelen, Klaartje, Brewer, Carole, Van Hest, Liselotte P., Van Os, Theo A. M., Caligo, Maria A., Verhoef, Senno, Tischkowitz, Marc, Vogel, Maartje J., Wijnen, Juul T., Lalloo, Fiona, Beesley, Jonathan, Fox, Stephen, Collonge Rame, Marie Agnès, Simard, Jacques, Holland, Helene, Jiao, Yue, John, Esther M., Joseph, Vijai, Gerdes, Anne Marie, Karlan, Beth Y., Lesueur, Fabienne, Loud, Jennifer T., Lubiński, Jan, Manoukian, Siranoush, Mcguffog, Lesley, Miller, Austin, Coupier, Isabelle, Gomes, Denise Molina, Barouk Simonet, Emmanuelle, Montagna, Marco, Miller, Clare, Elan, Camille, Davidson, Rosemarie, Mouret Fourme, Emmanuelle, Gayther, Simon A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Pauw, Antoine de, Olah, Edith, Morrison, Patrick J., Olopade, Olufunmilayo I., Van Asperen, Christi J., Park, Sue K., Parsons, Michael T., Donaldson, Alan, Belotti, Muriel, Peterlongo, Paolo, Stadler, Zsofia, Stoppa Lyonnet, Dominique, Sutter, Christian, Ong, Kai Ren, Delnatte, Capucine, Tan, Yen Yen, Toland, Amanda E., Tung, Nadine, Van Rensburg, Elizabeth J., Vega, Ana, Wappenschmidt, Barbara, Devilee, Peter, Eason, Jacqueline, Chung, Wendy K., Bernstein, Jonine L., Offit, Kenneth, Aalfs, Cora M., Hanson, Helen, Godwin, Andrew K., Easton, Douglas F., Bonadona, Valérie, Rookus, Matti A., Chenevix-Trench, Georgia, Antoniou, Antonis C., O’shaughnessy Kirwan, Aoife, Robson, Mark, Eccles, Diana M., Schmidt, Marjanka K., Adank, Muriel A., Gemo Study Collaborators, Phillips, Kelly Anne, Embrace Collaborators, Ocgn Investigators, Goldgar, David E., Hebon Investigators, Perkins, Jo, Kconfab Investigators, Bressac de Paillerets, Brigitte, Buecher, Bruno, Caputo, Sandrine, Ausems, Margreet G. E. M., Gregory, Helen, Caron, Olivier, Faivre, Laurence, Fert Ferrer, Sandra, Gauthier Villars, Marion, Radice, Paolo, Gesta, Paul

Publikováno v: GENETICS IN MEDICINE
Genetics in Medicine, 23(9), 1726-1737. Lippincott Williams & Wilkins
Genetics in Medicine, 23, 1726-1737
Genetics in Medicine, 23(9), 1726-1737. Nature Publishing Group
Genetics in Medicine, 23, 9, pp. 1726-1737
Lakeman, IMM, van, D B AJ, Vos, JAM, Barnes, DR, Adlard, J, Andrulis, IL, Arason, A, Arnold, N, Arun, BK, Balmaña, J, Barrowdale, D, Benitez, J, Borg, A, Schmidt, MK & Evans, D G 2021, ' The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant. ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 23, no. 9, pp. 1726-1737 . https://doi.org/10.1038/s41436-021-01198-7
Lakeman, I M M, van den Broek, A J, Vos, J A M, Barnes, D R, Adlard, J, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Balmaña, J, Barrowdale, D, Benitez, J, Borg, A, Caldés, T, Caligo, M A, Chung, W K, Claes, K B M, Barouk-Simonet, E, Belotti, M, Berthet, P, Bignon, Y J, Bonadona, V, Bressac-de Paillerets, B, Buecher, B, Caputo, S, Caron, O, Castera, L, Caux-Moncoutier, V, Colas, C, Collonge-Rame, M A, Coupier, I, de Pauw, A, Delnatte, C, Elan, C, Faivre, L, Ferrer, S F, Gauthier-Villars, M, Gesta, P, Giraud, S, Golmard, L, Houdayer, C, Lasset, C, Laurent, M, Leroux, D, Longy, M, Mari, V, Mazoyer, S, Mebirouk, N, Mortemousque, I, Jensen, U B, GEMO Study Collaborators, EMBRACE Collaborators, OCGN Investigators, HEBON Investigators & KConFab Investigators 2021, ' The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant ', Genetics in Medicine, vol. 23, no. 9, pp. 1726-1737 . https://doi.org/10.1038/s41436-021-01198-7
Genetics in Medicine, 23(9), 1726-1737. SPRINGERNATURE
Dipòsit Digital de la UB
Universidad de Barcelona
HEBON Investigators, KConFab Investigators, GEMO Study Collaborators, EMBRACE Collaborators & OCGN Investigators 2021, ' The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant ', Genetics in Medicine, vol. 23, no. 9, pp. 1726-1737 . https://doi.org/10.1038/s41436-021-01198-7
Scientia
Genetics in Medicine
Genetics in Medicine, 23(9), 1726-1737. Lippincott Williams and Wilkins
Genetics in medicine, 23(9), 1726-1737. Lippincott Williams and Wilkins
GEMO Study Collaborators, EMBRACE Collaborators, OCGN Investigators, HEBON Investigators & kConFab Investigators 2021, ' The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant ', Genetics in Medicine, vol. 23, no. 9, pp. 1726-1737 . https://doi.org/10.1038/s41436-021-01198-7
Genetics in Medicine, 2021, 23 (9), pp.1726-1737. ⟨10.1038/s41436-021-01198-7⟩
Lakeman, I M M, van den Broek, A J, Vos, J A M, Barnes, D R, Adlard, J, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Balmaña, J, Barrowdale, D, Benitez, J, Borg, A, Caldés, T, Caligo, M A, Chung, W K, Claes, K B M, Barouk-Simonet, E, Belotti, M, Berthet, P, Bignon, Y J, Bonadona, V, Bressac-de Paillerets, B, Buecher, B, Caputo, S, Caron, O, Castera, L, Caux-Moncoutier, V, Colas, C, Collonge-Rame, M A, Coupier, I, de Pauw, A, Delnatte, C, Elan, C, Faivre, L, Ferrer, S F, Gauthier-Villars, M, Gesta, P, Giraud, S, Golmard, L, Houdayer, C, Lasset, C, Laurent, M, Leroux, D, Longy, M, Mari, V, Mazoyer, S, Mebirouk, N, Gerdes, A M, Jensen, U B, Thomassen, M, GEMO Study Collaborators, EMBRACE Collaborators, OCGN Investigators, HEBON Investigators & kConFab Investigators 2021, ' The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant ', Genetics in Medicine, vol. 23, no. 9, pp. 1726-1737 . https://doi.org/10.1038/s41436-021-01198-7

Predicció de risc de càncer de mama; Dones europees; Variant patògena heterozigota Predicción del riesgo de cáncer de mama; Mujeres europeas; Variante patógena heterocigota Breast cancer risk prediction; European women; Heterozygous pathogenic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fff307264df94c7ba3830c476324f06b
https://doi.org/10.1038/s41436-021-01198-7

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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
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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, 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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
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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)
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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

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https://www.nature.com/articles/s41467-020-20496-3.pdf