A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers

Autor: Jiao, Yue, Lesueur, Fabienne, Azencott, Chloé-Agathe, Laurent, Maïté, Mebirouk, Noura, Laborde, Lilian, Beauvallet, Juana, Dondon, Marie-Gabrielle, Eon-Marchais, Séverine, Laugé, Anthony, Noguès, Catherine, Andrieu, Nadine, Stoppa-Lyonnet, Dominique, Caputo, Sandrine, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Léone, Mélanie, Bressac- de Paillerets, Brigitte, Caron, Olivier, Guillaud-Bataille, Marine, Bignon, Yves-Jean, Uhrhammer, Nancy, Bonadona, Valérie, Lasset, Christine, Berthet, Pascaline, Castera, Laurent, Vaur, Dominique, Bourdon, Violaine, Noguchi, Tetsuro, Popovici, Cornel, Remenieras, Audrey, Sobol, Hagay, Coupier, Isabelle, Harmand, Pierre-Olivier, Pujol, Pascal, Vilquin, Paul, Dumont, Aurélie, Révillion, Françoise, Muller, Danièle, Barouk-Simonet, Emmanuelle, Bonnet, Françoise, Bubien, Virginie, Longy, Michel, Sevenet, Nicolas, Gladieff, Laurence, Guimbaud, Rosine, Feillel, Viviane, Toulas, Christine, Dreyfus, Hélène, Leroux, Dominique, Peysselon, Magalie, Rebischung, Christine, Baurand, Amandine, Bertolone, Geoffrey, Coron, Fanny, Faivre, Laurence, Goussot, Vincent, Jacquot, Caroline, Sawka, Caroline, Kientz, Caroline, Lebrun, Marine, Prieur, Fabienne, Fert-Ferrer, Sandra, Mari, Véronique, Venat-Bouvet, Laurence, Bézieau, Stéphane, Delnatte, Capucine, Mortemousque, Isabelle, Coulet, Florence, Soubrier, Florent, Warcoin, Mathilde, Bronner, Myriam, Lizard, Sarab, Sokolowska, Johanna, Collonge-Rame, Marie-Agnès, Damette, Alexandre, Gesta, Paul, Lallaoui, Hakima, Chiesa, Jean, Molina-Gomes, Denise, Ingster, Olivier, Manouvrier-Hanu, Sylvie, Lejeune, Sophie, Pontois, Pauline, Lyonnet, Dominique Stoppa, Gauthier-Villars, Marion, Buecher, Bruno, Mouret-Fourme, Emmanuelle, Fricker, Jean-Pierre, Luporsi, Elisabeth, Frenay, Marc, Eisinger, Francois, Moretta, Jessica, Dugast, Catherine, Colas, Chrystelle, Lortholary, Alain, Vennin, Philippe, Adenis, Claude, Nguyen, Tan Dat, Rossi, Annick, Tinat, Julie, Tennevet, Isabelle, Limacher, Jean-Marc, Maugard, Christine, Bignon, Jean-Yves, Demange, Liliane, Cohen-Haguenauer, Odile, Gilbert, Brigitte, Zattara-Cannoni, Hélène

Publikováno v: BMC Medical Research Methodology
BMC Medical Research Methodology, BioMed Central, 2021, 21 (1), pp.155. ⟨10.1186/s12874-021-01299-6⟩
BMC Medical Research Methodology, 2021, 21 (1), pp.155. ⟨10.1186/s12874-021-01299-6⟩
BMC Medical Research Methodology, Vol 21, Iss 1, Pp 1-11 (2021)

Background Linking independent sources of data describing the same individuals enable innovative epidemiological and health studies but require a robust record linkage approach. We describe a hybrid record linkage process to link databases from two i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be32ee1e1fdd7a8c91374aff36cb5f65
https://www.hal.inserm.fr/inserm-03313811/document

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, 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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
Nature Communications
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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)
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

Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk

Autor: Petitalot, Ambre, Dardillac, Elodie, Jacquet, Eric, Nhiri, Naima, Guirouilh-Barbat, Josee, Julien, Patrick, Bouazzaoui, Isslam, Bonte, Dorine, Feunteun, Jean, Schnell, Jeff A., Lafitte, Philippe, Aude, Jean-Christophe, Nogues, Catherine, Rouleau, Etienne, Lidereau, Rosette, Lopez, Bernard S., Zinn-Justin, Sophie, Caputo, Sandrine M., Bonnet, Francoise, Jones, Natalie, Bubien, Virginie, Longy, Michel, Sevenet, Nicolas, Krieger, Sophie, Casters, Laurent, Vaur, Dominique, Uhrhammer, Nancy, Bignon, Yves Jean, Lizard, Sarab, Dumont, Aurelie, Revillion, Francoise, Leone, Melanie, Boutry-Kryza, Nadia, Sinilnikova, Olga, Remenieras, Audrey, Bourdon, Violaine, Noguchi, Tetsuro, Sobol, Hagay, Harmand, Pierre-Olivier, Vilquin, Paul, Pujol, Pascal, Jonveaux, Philippe, Bronner, Myriam, Sokolowska, Joanna, Delnatte, Capucine, Guibert, Virginie, Garrec, Celine, Bezieau, Stephan, Soubrier, Florent, Guillerm, Erell, Coulet, Florence, Lefol, Cedrick, Caux-Moncoutier, Virginie, Golmard, Lisa, Houdayer, Claude, Stoppa-Lyonnet, Dominique, Delvincoun, Chantal, Beaudoux, Olivia, Muller, Daniele, Toulas, Christine, Guillaud-Bataille, Marine, Bressac-De Paillerets, Brigitte

Publikováno v: Molecular Cancer Research
Molecular Cancer Research, American Association for Cancer Research, 2019, 17 (1), pp.54--69. ⟨10.1158/1541-7786.MCR-17-0357⟩
Molecular Cancer Research, American Association for Cancer Research, 2019, 17 (1), pp.54-69. ⟨10.1158/1541-7786.MCR-17-0357⟩
Molecular Cancer Research, 2019, 17 (1), pp.54--69. ⟨10.1158/1541-7786.MCR-17-0357⟩

BRCA1 mutations have been identified that increase the risk of developing hereditary breast and ovarian cancers. Genetic screening is now offered to patients with a family history of cancer, to adapt their treatment and the management of their relati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::456920938871e1394b4edab0f553fdaa
https://hal.archives-ouvertes.fr/hal-02173633

BRCA Share: A Collection of Clinical BRCA Gene Variants

Autor: Béroud , Christophe, Letovsky , Stanley I., Braastad , Corey D., Caputo , Sandrine M., Beaudoux , Olivia, Bignon , Yves Jean, Paillerets , Brigitte Bressac-De, Bronner , Myriam, Buell , Crystal M., Collod-Béroud , Gwenaëlle, Coulet , Florence, Derive , Nicolas, Divincenzo , Christina, Elzinga , Christopher D., Garrec , Celine, Houdayer , Claude, Karbassi , Izabela, Lizard , Sarab, Love , Angela, Muller , Danièle, Nagan , Narasimhan, Nery , Camille R., Rai , Ghadi, Révillion , Françoise, Salgado , David, Sevenet , Nicolas, Sinilnikova , Olga, Sobol , Hagay, Stoppa-Lyonnet , Dominique, Toulas , Christine, Trautman , Edwin, Vaur , Dominique, Vilquin , Paul, Weymouth , Katelyn S., Willis , Alecia, Eisenberg , Marcia, Strom , Charles M., Variant , Lab Corp Amer, Variant , Quest Diagnostics, Lab , UNICANCER Genetic Grp BRCA

Publikováno v: Human Mutation
Human Mutation, Wiley, 2016, 37 (12, SI), pp.1318-1328. 〈10.1002/humu.23113〉

International audience; As next-generation sequencing increases access to human genetic variation, the challenge of determining clinical significance of variants becomes ever more acute. Germline variants in the BRCA1 and BRCA2 genes can confer subst

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3379::e5f5f224d6252f42d9439c3bc93f1dd5
https://hal.archives-ouvertes.fr/hal-01469067

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