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P003 Implementation of High Throughput Parallel Sequencing in a Diagnostic Setting: Multiplexed Amplicon Sequencing of the Breast Cancer Genes BRCA1 and 2

Autor: Zogopoulos G, Tomi Pastinen, Sivanandan K, Vaca F, Kinoshita T, Johannes B, Leguis E, Jansen-van der Weide M, Learn L, Godlewski D, Ed Saunders, Montserrat Rué, Vaisman A, de Bock G, Ángel Segura, Sabbaghian N, Mohammad Amin Kerachian, Pelletier S, Metcalfe K, Lilge L, Stockle E, Cheng S, Burger C, Woike A, Michelle Guy, Ragone A, Y. J. Bignon, Bronkhorst Y, Patricia N. Tonin, Lima M, Mieke Kriege, Karsan A, Zweemer R, Prady C, Beattie M, Panchal S, Kathleen Claes, van Zon P, Diane Provencher, Ummels A, Kang I, Shumak R, Arcusa Â, Yosr Hamdi, Alonso Mc, Dolman L, Houssami N, Olivier Delattre, Yannick Bidet, Claude Houdayer, Mercedes Durán, Ganschow P, Isabel Chirivella, Domingo S, Rebsamen M, Giustina Simone, Orland Diez, Chapman J, An tSaoir C, Jeanna McCuaig, Blayney J, Bosdet I, Treacy R, Esther Darder, Ando J, Luc Dehaspe, García-Casado Z, Duffy J, Harkin D, Z Kote-Jarai, Kasamatsu T, Ulf Kristoffersson, Membrez, Priston M, Noreau-Heisz D, Trivedi A, Begoña Graña, Ghadirian P, Ashuryk O, Consol López, Wenzel L, Vogel R, Joseph G, Poll A, Kennedy R, Patton S, Pérez C, Mónica Cornet, Panighetti A, Cassart P, Burke K, Mes-Masson A, Llacuachaqui M, Marc Tischkowitz, Wong N, Arcand S, Kotsopoulos J, Meschino W, Hall A, Marles S, Docking R, Haroun I, Marie Plante, Rachel Laframboise, Daniel Sinnett, Luce J, Sekiguchi I, Edenir Inêz Palmero, de Winter J, Christopher J. Lord, Hamel N, Pruski-Clark J, Lee D, Rusnak A, Carson N, Marta Santamariña, Knoppers B, Oakhill K, Bruce R. Rosen, Pierre O. Chappuis, Bruce Poppe, Stanislaw C, Catts Z, Brood M, van der Wall E, Yip C, Christine Walsh, Hoodfar E, Pressman A, Andrulis I, Alicia Barroso, D. Leongamornlert, Gillian Mitchell, Akira Hirasawa, Shen Z, Sameer Parpia, Horgan M, van Echtelt J, Chun K, Lubinski J, Rebecca Sutphen, Terespolsky D, Richard D, McDyer F, Floquet A, Lambo R, Bathurst L, Brown G, Kidd M, Nicolas Sevenet, Mourits M, Vencken P, Tatiana Popova, Garcia N, Armel S, van Amstel H, Valentini A, Ellen Warner, Hofland N, Hanna D, Kim J, Osann K, Enmore M, Loranger K, Sulivan I, J. Oliveira, Meijers H, Jansen R, Edmundo Carvalho Mauad, Kirkpatrick R, Danilo V Viana, Ian G. Campbell, Mil S, E J Sawyer, J. Balmaña, Samra Turajlic, Graham G, Alonso C, Inanc Birol, Sinclair F, van Tuil M, Pascual Bolufer, Micheli R, Andrew R. Green, Junyent N, Whittaker J, Monnerat C, Rhéaume J, Livingston D, Chan S, L. Ramadan, Lee R, Katarzyna Durda, De Leeneer K, Grados C, Côté C, Kyle B. Matchett, Robert Winqvist, Bonner D, Brunella Pilato, Mohd Taib N, Judy Garber, Kleiderman E, Murakami S, Sharifi N, Kimberley Hill, Desbiens C, Robert Royer, Jasperson K, Hsieh S, De Summa S, Dominique Stoppa-Lyonnet, de Lima J, Stuart McIntosh, Shakeri M, Wendy Kohlmann, Albert-Green A, de Hullu J, Pasick R, Avard D, Pathania S, van der Groep P, Laura Fachal, Bruno Zeitouni, Susan M. Domchek, Davey S, Richard Marais, Powell C, Hans J. J. P. Gille, Greenberg R, Kamata H, Cina, Gaarenstroom K, Lakhal Chaieb M, Kavanagh L, Gaelle Benais-Pont, Sun P, Jansen L, Matthew Parker, Barjhoux L, Russ H, Simon J. Furney, Willems A, Robb L, David E. Goldgar, Young S, Natalia Campacci, Mark G. Thomas, Doug Easton, Klugman S, Barrault M, Calvo N, Adriana C. Flora, Littell R, Narod S, Fragoso, N. Bosch, Finch A, Paul M. Wilkerson, Teo S, Tomasz Huzarski, Manuel Salto-Tellez, Moseley M, Davis S, Olga M. Sinilnikova, Iturbe A, Joan Brunet, Tierney M, Tsai E, Navarro de Souza A, Leclerc M, Lorenzo Manti, Gutiérrez-Enríquez S, Milewski B, Simon S. McDade, Kaplan C, Buckley N, Eva Esteban-Cardeñosa, Richter S, Shimizu C, Li J, Elena Castro, Iwanka Kozarewa, Harley I, Atocha Romero, Carlos E. Andrade, Carole Verny-Pierre, Barouk E, Vian D, Montserrat Baiget, Chan J, Sandra Bonache, Andrew Y Shuen, van der Merwe N, Kaklewski K, Mohar A, Tamura C, Heale E, Rooyadeh M, van Asperen C, Gemma Llort, Alan Mackay, Denroche R, Seelaus C, Zbuk K, McCluggage W, van der Luijt R, Maaike P.G. Vreeswijk, Edelweiss M, Crossan G, Arseneau J, Ambus I, Verheul H, Rodrigo Augusto Depieri Michelli, Juul T. Wijnen, Gross-Lester J, Britta Weigelt, Pedro Pérez-Segura, Richard A. Moore, Cornelissen C, Larouche G, McAlpine J, Daniel Nava Rodrigues, Trim L, Furnival J, Elser C, Muszyńka M, Adriana Lasa, Tuya Pal, Greuter. M, Ng K, Dorval M, Bresee C, Reimnitz G, Gaëtan MacGrogan, Perry Maxwell, Barnadas A, Hwang E, Powell B, Knapke S, Griskevicius. L, Alvarez R, Mester J, Anne-Bine Skytte, Eladio Velasco, Vidal S, Australie K, Leunen K, Ben-Yishay M, Van Houdt J, Phuah S, Amy E Taylor, Pinto R, Fonseca T, Champine M, Gammon A, Hollema H, Menko F, Feng B, David Olmos, Chong G, Tomasz Byrski, Patrick J. Morrison, Gregoire J, André Lopes Carvalho, Don B. Plewes, Rabeneck L, Carrol J, Alan Ashworth, Terlinge A, A Jakubowska, Odette Mariani, Setareh Moghadasi, Reitsma W, Rothenmund H, Herrera L, Anna Tenés, Angel Izquierdo, Asunción Torres, Stawicka M, Goh C, Hirst M, Drummond J, Osorio A, Ostrovsky R, Jeffrey N. Weitzel, Gareth W. Irwin, Fehniger J, Sugano K, Spriggs E, Dęniak T, Volenik A, Thorne H, Piccinin C, Amie Blanco, Jinno H, Robert A. Holt, Stephen B. Fox, Julia J. Gorski, Gilpin C, Herschorn S, Vega A, E. Page, Hamet P, McKenna D, Fabrice Bonnet, Yoshida T, Kienan I. Savage, Petzel S, Elizabeth Bancroft, Schneider S, Warwick L, Stewart S, William D. Foulkes, Colizza K, Bell K, Demsky R, Malgorzata Tymrakiewicz, Caldés T, Fons G, Bowen D, Côté S, Clouston D, Kitagawa Y, Gordon Glendon, Jenny Lester, Kinney A, Nelson E, Silke Hollants, Macrae L, Cajal T, Andrew J. Mungall, Ferrell B, Creighton B, Bressler L, Uy P, Makishima K, Haffaf Z, Ramūnas Janavičius, Einstein G, Zakalik D, Chiarelli A, Cantu D, Croce S, Kalloger S, Lin F, Ian O. Ellis, Benedito Mauro Rossi, R A Wilkinson, Mulligan J, Murphy J, Vadaparampil S, Smith E, Slangen B, Loiselle C, Iqbal J, Palma L, Cooper K, Jorge S. Reis-Filho, Chen. L, Quinten Waisfisz, Haneda E, Banks P, Vermeulen K, Visser B, Montalbán G, McCabe N, Honeyford J, Naseri S, Ng J, Ali A, Sandrine Viala, Mensa I, Kamarainen O, Guerra C, Mazzola E, David A. Schwartz, Marjanka K. Schmidt, Simon R, Fergus J. Couch, Margreet G. E. M. Ausems, Anne Vincent-Salomon, Olinski R, Zewald R, Moreno R, Semple J, McPherson J, Lamers E, Kharbanda A, Kessler L, Biemans D, Au A, Bordeleau L, Jean Feunteun, Mar Infante, Mullan P, Rudaitis, Molenda A, Rachael Natrajan, Pawar, Boman B, Kok T, Andrew A. Brown, Geller M, Monfared N, Bart J, Murata P, Crawford N, Butterfield Y, Bargalló J, Katherine L. Tucker, Cook-Wiens G, Rhodes A, Elodie Manié, Rubio E, Oram L, Shandiz F, Hayden R, Crawford B, Parmigiani G, Harkin P, Müller C, Grant M, Maryou B. Lambros, Thong M, Grzegorz Sukiennicki, Wouts J, Haddock P, Ramon y Cajal T, Kenneth C. Anderson, Michel Longy, Batiste W, Carroll J, Matte C, Hojyo T, Zhao Y, Caroline Seynaeve, Wai P, Simard J, Hurley K, Bolton D, Karlan B, Javier Benítez, Miriam Masas, Tołczko-Grabarek A, de Dueñas E, Geneviève Michils, Moncoutier, Nancy Uhrhammer, MacDonald D, Keyserlingk J, Osher D, Gilks C, Christopher T. Elliott, Scharf L, Gabram-Mendola S, Grondin K, Dohany L, van Diest P, Joris Vermeesch, Jan C. Oosterwijk, M’Baïlara K, DePuit M, Jacek Gronwald, Stefania Tommasi, de la Hoya M, Bouchard K, Black L, Lui M, Soucy P, Rosalind A. Eeles, Gert Matthijs, Graham T, Andrea Eisen, Bacha O, Alvaro N.A. Monteiro, Yoon S, Caron T, Smith D, Marc-Henri Stern, Hampson E, Kurz R, Gaasbeek W, Mundt E, Angela Velasco, Quinn J, Jocelyne Chiquette, Marquez T, Adam B. Murphy, Bakker J, Neus Gadea, Anita Grigoriadis, Aoki D, Dean S, Looi L, Paradiso A, Agostina Stradella, K. Govindasami, Lovell N, Eva Tomiak, Siesling S, Belanger M, Feilotter H, Knight J, Emmanuel Barillot, Huang M, Raquel Andrés, Kang P, Somerman C, Gackowski D, Rimel B, Nakamura S, McClellan K, Barrros E, Henriette Roed Nielsen, Rui Manuel Reis, Greening S, Ayme A, Carmen Guillen, de Vries E, Katarzyna Jaworska

Publikováno v: Current Oncology

Background: Germline mutation screening of BRCA1 and BRCA2 genes is performed in suspected familial breast cancer cases, but a causative mutation is found in only 30% of patients. The development of additional methods to identify good candidates for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4378421bdc7e52d3b45d771979b52c1
https://doi.org/10.3747/co.v16i5.529

Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

Autor: Gaudet, Mia M., Kuchenbaecker, Karoline B., Vijai, Joseph, Klein, Robert J., Kirchhoff, Tomas, McGuffog, Lesley, Barrowdale, Daniel, Dunning, Alison M., Lee, Andrew, Dennis, Joe, Healey, Sue, Dicks, Ed, Soucy, Penny, Sinilnikova, Olga M., Pankratz, Vernon S., Wang, Xianshu, Eldridge, Ronald C., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Hogervorst, Frans B.L., Peock, Susan, Stoppa-Lyonnet, Dominique, Coulet, Florence, Colas, Chrystelle, Soubrier, Florent, Peterlongo, Paolo, Schmutzler, Rita K., Nathanson, Katherine L., Piedmonte, Marion, Singer, Christian F., Thomassen, Mads, Sokolowska, Johanna, Bronner, Myriam, Hansen, Thomas V.O., Neuhausen, Susan L., Blanco, Ignacio, Greene, Mark H., Garber, Judith, Weitzel, Jeffrey N., Andrulis, Irene L., Goldgar, David E., D'Andrea, Emma, Caldes, Trinidad, Nevanlinna, Heli, Osorio, Ana, van Rensburg, Elizabeth J., Arason, Adalgeir, Rennert, Gad, van den Ouweland, Ans M.W., van der Hout, Annemarie H., Kets, Carolien M., Aalfs, Cora M., Wijnen, Juul T., Ausems, Margreet G.E.M., Frost, Debra, Ellis, Steve, Fineberg, Elena, Platte, Radka, Evans, D. Gareth, Jacobs, Chris, Adlard, Julian, Tischkowitz, Marc, Porteous, Mary, Damiola, Francesca, Golmard, Lisa, Barjhoux, Laure, Longy, Michel, Belotti, Muriel, Ferrer, Sandra Fert, Mazoyer, Sylvie, Spurdle, Amanda B., Manoukian, Siranoush, Barile, Monica, Genuardi, Maurizio, Arnold, Norbert, Meindl, Alfons, Sutter, Christian, Wappenschmidt, Barbara, Domchek, Susan M., Pfeiler, Georg, Friedman, Eitan, Jensen, Uffe Birk, Robson, Mark, Shah, Sohela, Lazaro, Conxi, Mai, Phuong L., Benitez, Javier, Southey, Melissa C., Schmidt, M. K., Fasching, Peter A., Peto, Julian, Humphreys, Manjeet K., Wang, Qin, Michailidou, Kyriaki, Sawyer, Elinor J., Burwinkel, Barbara, Guénel, Pascal, Bojesen, Stig E., Milne, Roger L., Brenner, Hermann, Lochmann, Magdalena, Brauch, Hiltrud, Ko, Yon Dschun, Baisch, Christian, Fischer, Hand Peter, Bruening, Thomas, Pesch, Beate, Rabstein, Sylvia, Spickenheuer, Anne, Aittomäki, Kristiina, Dörk, Thilo, Margolin, Sara, Mannermaa, Arto, Lambrechts, Diether, Chang-Claude, Jenny, Radice, Paolo, Giles, Graham G., Haiman, Christopher A., Winqvist, Robert, Devillee, Peter, García-Closas, Montserrat, Schoof, Nils, Hooning, M. J., Cox, Angela, Pharoah, Paul D.P., Jakubowska, Anna, Orr, Nick, González-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Hall, Per, Couch, Fergus J., Simard, Jacques, Altshuler, David, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., Offit, Kenneth, Rookus, M. A., van Leeuwen, F. E., Verhoef, S., de Lange, J. L., Collée, J. M., Seynaeve, C., van Deurzen, C. H.M., van Asperen, C. J., Tollenaar, R. A., Devilee, P., van Cronenburg, T. C.T.E.F., Mensenkamp, A. R., van der Luijt, R. B., van Os, T. A.M., Gille, J. J.P., Waisfisz, Q., Meijers-Heijboer, H. E.J., Gómez-Garcia, E. B., Blok, M. J., Oosterwijk, J. C., Mourits, M. J., de Bock, G. H., Vasen, H. F., Miedzybrodzka, Zosia, Gregory, Helen, Morrison, Patrick, Jeffers, Lisa, Cole, Trevor, Ong, Kai ren, Hoffman, Jonathan, Donaldson, Alan, James, Margaret, Paterson, Joan, Taylor, Amy, Murray, Alexandra, Rogers, Mark T., McCann, Emma, Kennedy, M. John, Barton, David, Drummond, Sarah, Brewer, Carole, Kivuva, Emma, Searle, Anne, Goodman, Selina, Hill, Kathryn, Davidson, Rosemarie, Murday, Victoria, Bradshaw, Nicola, Snadden, Lesley, Longmuir, Mark, Watt, Catherine, Gibson, Sarah, Haque, Eshika, Tobias, Ed, Duncan, Alexis, Izatt, Louise, Langman, Caroline, Brady, Angela, Dorkins, Huw, Melville, Athalie, Randhawa, Kashmir, Barwell, Julian, Serra-Feliu, Gemma, Ellis, Ian, Houghton, Catherine, Lalloo, Fiona, Taylor, Jane, Side, Lucy, Male, Alison, Berlin, Cheryl, Eason, Jacqueline, Douglas, Fiona, Claber, Oonagh, Collier, Rebecca, Jobson, Irene, Walker, Lisa, McLeod, Diane, Durell, Sarah, Stayner, Barbara, Eeles, Rosalind A., Shanley, Susan, Rahman, Nazneen, Houlston, Richard, Bancroft, Elizabeth, Page, Elizabeth, Ardern-Jones, Audrey, Kohut, Kelly, Wiggins, Jennifer, Castro, Elena, Killick, Emma, Martin, Sue, Rea, Gillian, Kulkarni, Anjana, Cook, Jackie, Quarrell, Oliver, Bardsley, Cathryn, Hodgson, Shirley, Goff, Sheila, Brice, Glen, Winchester, Lizzie, Eddy, Charlotte, Tripathi, Vishakha, Attard, Virginia, Lehmann, Anna, Eccles, Diana, Lucassen, Anneke, Crawford, Gillian, McBride, Donna, Smalley, Sarah, Sinilnikova, Olga, Verny-Pierre, Carole, Giraud, Sophie, Léone, Mélanie, Gauthier-Villars, Marion, Buecher, Bruno, Houdayer, Claude, Moncoutier, Virginie, Tirapo, Carole, de Pauw, Antoine, Bressac-de-Paillerets, Brigitte, Caron, Olivier, Bignon, Yves Jean, Uhrhammer, Nancy, Lasset, Christine, Bonadona, Valérie, Handallou, Sandrine, Hardouin, Agnés, Berthet, Pascaline, Sobol, Hagay, Bourdon, Violaine, Noguchi, Tetsuro, Remenieras, Audrey, Coupier, Isabelle, Pujol, Pascal, Peyrat, Jean Philippe, Fournier, Joëlle, Révillion, Françoise, Vennin, Philippe, Adenis, Claude, Rouleau, Etienne, Lidereau, Rosette, Demange, Liliane, Nogues, Catherine, Muller, Danièle, Fricker, Jean Pierre, Barouk-Simonet, Emmanuelle, Bonnet, Françoise, Bubien, Virginie, Sevenet, Nicolas, Toulas, Christine, Guimbaud, Rosine, Gladieff, Laurence, Feillel, Viviane, Dreyfus, Hélène, Rebischung, Christine, Peysselon, Magalie, Coron, Fanny, Faivre, Laurence, Prieur, Fabienne, Lebrun, Marine, Kientz, Caroline, Frénay, Marc, Vénat-Bouvet, Laurence, Delnatte, Capucine, Mortemousque, Isabelle, Lynch, Henry T., Snyder, Carrie L.

Publikováno v: Plos Genetics, 9, 3, pp. e1003173
Plos Genetics, 9, e1003173
Gaudet, M M, Kuchenbaecker, K B, Vijai, J, Klein, R J, Kirchhoff, T, McGuffog, L, Barrowdale, D, Dunning, A M, Lee, A R, Dennis, J, Healey, S, Dicks, E, Soucy, P, Sinilnikova, O M, Pankratz, V S, Wang, X, Eldridge, R C, Tessier, D C, Vincent, D, Bacot, F, Hogervorst, F B L, Peock, S, Stoppa-Lyonnet, D, Peterlongo, P, Schmutzler, R K, Nathanson, K L, Piedmonte, M, Singer, C F, Thomassen, M, Hansen, T V O, Neuhausen, S L, Blanco, I, Greene, M H, Garber, J, Weitzel, J N, Andrulis, I L, Goldgar, D E, D'Andrea, E, Caldes, T, Nevanlinna, H, Osorio, A, van Rensburg, E J, Arason, A, Rennert, G, van den Ouweland, A M W, van der Hout, A H, Kets, C M, Aalfs, C M, Wijnen, J T, Ausems, M G E M & kConFab Investigators 2013, ' Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk ', P L o S Genetics, vol. 9, no. 3, e1003173 . https://doi.org/10.1371/journal.pgen.1003173
Dipòsit Digital de la UB
Universidad de Barcelona
Gaudet, M M, Kuchenbaecker, K B, Vijai, J, Klein, R J, Kirchhoff, T, McGuffog, L, Barrowdale, D, Dunning, A M, Lee, A R, Dennis, J, Healey, S, Dicks, E, Soucy, P, Sinilnikova, O M, Pankratz, V S, Wang, X, Eldridge, R C, Tessier, D C, Vincent, D, Bacot, F, Hogervorst, F B L, Peock, S, Stoppa-Lyonnet, D, Peterlongo, P, Schmutzler, R K, Nathanson, K L, Piedmonte, M, Singer, C F, Thomassen, M, Hansen, T V O, Neuhausen, S L, Blanco, I, Greene, M H, Garber, J, Weitzel, J N, Andrulis, I L, Goldgar, D E, D'Andrea, E, Caldes, T, Nevanlinna, H, Osorio, A, van Rensburg, E J, Arason, A, Rennert, G, van den Ouweland, A M W, van der Hout, A H, Kets, C M, Aalfs, C M, Wijnen, J T, Jensen, U B & KConFab Investigators 2013, ' Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk ', PLoS genetics, vol. 9, no. 3, pp. e1003173 . https://doi.org/10.1371/journal.pgen.1003173
Gaudet, M M, Kuchenbaecker, K B, Vijai, J, Klein, R J, Kirchhoff, T, McGuffog, L, Barrowdale, D, Dunning, A M, Lee, A, Dennis, J, Healey, S, Dicks, E, Soucy, P, Sinilnikova, O M, Pankratz, V S, Wang, X, Eldridge, R C, Tessier, D C, Vincent, D, Bacot, F, Hogervorst, F B L, Peock, S, Stoppa-Lyonnet, D, Coulet, F, Colas, C, Soubrier, F, Peterlongo, P, Schmutzler, R K, Nathanson, K L, Piedmonte, M, Singer, C F, Thomassen, M, Sokolowska, J, Bronner, M, Hansen, T V O, Neuhausen, S L, Blanco, I, Greene, M H, Garber, J, Weitzel, J N, Andrulis, I L, Goldgar, D E, D'Andrea, E, Caldes, T, Nevanlinna, H, Osorio, A, van Rensburg, E J, Arason, A, Rennert, G, van den Ouweland, A M W, van der Hout, A H, Kets, C M, Aalfs, C M, Wijnen, J T, Ausems, M G E M, Frost, D, Ellis, S, Fineberg, E, Platte, R, Evans, D G, Jacobs, C, Adlard, J, Tischkowitz, M, Porteous, M, Damiola, F, Golmard, L, Barjhoux, L, Longy, M, Belotti, M, Ferrer, S F, Mazoyer, S, Spurdle, A B, Manoukian, S, Barile, M, Genuardi, M, Arnold, N, Meindl, A, Sutter, C, Wappenschmidt, B, Domchek, S M, Pfeiler, G, Friedman, E, Jensen, U B, Robson, M, Shah, S, Lazaro, C, Mai, P L, Benitez, J, Southey, M C, Schmidt, M K, Fasching, P A, Peto, J, Humphreys, M K, Wang, Q, Michailidou, K, Sawyer, E J, Burwinkel, B, Guénel, P, Bojesen, S E, Milne, R L, Brenner, H, Lochmann, M, Brauch, H, Ko, Y D, Baisch, C, Fischer, H P, Bruening, T, Pesch, B, Rabstein, S, Spickenheuer, A, Aittomäki, K, Dörk, T, Margolin, S, Mannermaa, A, Lambrechts, D, Chang-Claude, J, Radice, P, Giles, G G, Haiman, C A, Winqvist, R, Devillee, P, García-Closas, M, Schoof, N, Hooning, M J, Cox, A, Pharoah, P D P, Jakubowska, A, Orr, N, González-Neira, A, Pita, G, Alonso, M R, Hall, P, Couch, F J, Simard, J, Altshuler, D, Easton, D F, Chenevix-Trench, G, Antoniou, A C, Offit, K, Rookus, M A, van Leeuwen, F E, Verhoef, S, de Lange, J L, Collée, J M, Seynaeve, C, van Deurzen, C H M, van Asperen, C J, Tollenaar, R A, Devilee, P, van Cronenburg, T C T E F, Mensenkamp, A R, van der Luijt, R B, van Os, T A M, Gille, J J P, Waisfisz, Q, Meijers-Heijboer, H E J, Gómez-Garcia, E B, Blok, M J, Oosterwijk, J C, Mourits, M J, de Bock, G H, Vasen, H F, Miedzybrodzka, Z, Gregory, H, Morrison, P, Jeffers, L, Cole, T, Ong, K R, Hoffman, J, Donaldson, A, James, M, Paterson, J, Taylor, A, Murray, A, Rogers, M T, McCann, E, Kennedy, M J, Barton, D, Porteous, M, Drummond, S, Brewer, C, Kivuva, E, Searle, A, Goodman, S, Hill, K, Davidson, R, Murday, V, Bradshaw, N, Snadden, L, Longmuir, M, Watt, C, Gibson, S, Haque, E, Tobias, E, Duncan, A, Izatt, L, Langman, C, Brady, A, Dorkins, H, Melville, A, Randhawa, K, Barwell, J, Serra-Feliu, G, Ellis, I, Houghton, C, Lalloo, F, Taylor, J, Side, L, Male, A, Berlin, C, Eason, J, Douglas, F, Claber, O, Collier, R, Jobson, I, Walker, L, McLeod, D, Durell, S, Stayner, B, Eeles, R A, Shanley, S, Rahman, N, Houlston, R, Bancroft, E, Page, E, Ardern-Jones, A, Kohut, K, Wiggins, J, Castro, E, Killick, E, Martin, S, Rea, G, Kulkarni, A, Cook, J, Quarrell, O, Bardsley, C, Hodgson, S, Goff, S, Brice, G, Winchester, L, Eddy, C, Tripathi, V, Attard, V, Lehmann, A, Eccles, D, Lucassen, A, Crawford, G, McBride, D, Smalley, S, Sinilnikova, O, Verny-Pierre, C, Giraud, S, Léone, M, Gauthier-Villars, M, Buecher, B, Houdayer, C, Moncoutier, V, Tirapo, C, de Pauw, A, Bressac-de-Paillerets, B, Caron, O, Bignon, Y J, Uhrhammer, N, Lasset, C, Bonadona, V, Handallou, S, Hardouin, A, Berthet, P, Sobol, H, Bourdon, V, Noguchi, T, Remenieras, A, Coupier, I, Pujol, P, Peyrat, J P, Fournier, J, Révillion, F, Vennin, P, Adenis, C, Rouleau, E, Lidereau, R, Demange, L, Nogues, C, Muller, D, Fricker, J P, Barouk-Simonet, E, Bonnet, F, Bubien, V, Sevenet, N, Toulas, C, Guimbaud, R, Gladieff, L, Feillel, V, Dreyfus, H, Rebischung, C, Peysselon, M, Coron, F, Faivre, L, Prieur, F, Lebrun, M, Kientz, C, Frénay, M, Vénat-Bouvet, L, Delnatte, C, Mortemousque, I, Lynch, H T, Snyder, C L, EMBRACE, HEBON, GENICA Network, GEMO Study, KConFab Investigators & Ontario Cancer Genetics Network 2013, ' Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk ', PLoS Genetics, vol. 9, no. 3, e1003173 . https://doi.org/10.1371/journal.pgen.1003173
PLoS Genetics; Vol 9
PLoS Genetics, 9(3)
Recercat. Dipósit de la Recerca de Catalunya
instname
PLoS Genetics (print), 9(3). Public Library of Science
PLoS Genetics
PLoS genetics, 9(3). Public Library of Science
PLoS Genetics, 9(3):e1003173. Public Library of Science
PLoS genetics, 9(3). PUBLIC LIBRARY SCIENCE
PLoS Genetics, Vol 9, Iss 3, p e1003173 (2013)

Contains fulltext : 118578.pdf (Publisher’s version ) (Open Access) Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through population-based gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be8bbb324fd27ffcb52b62a1a013638c
https://hdl.handle.net/2066/118578

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

Autor: Couch, Fergus J., Xianshu, Wang, Lesley, Mcguffog, Andrew, Lee, Curtis, Olswold, Kuchenbaecker, Karoline B., Penny, Soucy, Zachary, Fredericksen, Daniel, Barrowdale, Joe, Dennis, Gaudet, Mia M., Dicks, Ed, Matthew, Kosel, Sue, Healey, Sinilnikova, Olga M., Adam, Lee, François, Bacot, Daniel, Vincent, Hogervorst, Frans B. L., Susan, Peock, Dominique Stoppa Lyonnet, Anna, Jakubowska, Paolo, Radice, Rita Katharina Schmutzler, Domchek, S. M., Piedmonte, M., Singer, C. F., Friedman, E., Thomassen, M., Hansen, T. V. O., Neuhausen, S. L., Szabo, C. I., Blanco, I., Greene, M. H., Karlan, B. Y., Garber, J., Phelan, C. M., Weitzel, J. N., Montagna, M., Olah, E., Andrulis, I. L., Godwin, A. K., Yannoukakos, D., Goldgar, D. E., Caldes, T., Nevanlinna, H., Osorio, A., Terry, M. B., Daly, M. B., Van Rensburg, E. J., Hamann, U., Ramus, S. J., Ewart Toland, A., Caligo, M. A., Olopade, O. I., Tung, N., Claes, K., Beattie, M. S., Southey, M. C., Imyanitov, E. N., Tischkowitz, M., Janavicius, R., John, E. M., Kwong, A., Diez, O., Balmana, J., Barkardottir, R. B., Arun, B. K., Rennert, G., Teo, S. H., Ganz, P. A., Campbell, I., Van Der Hout, A. H., Van Deurzen, C. H. M., Seynaeve, C., Gomez Garcia, E. B., Van Leeuwen, F. E., Meijers Heijboer, H. E. J., Gille, J. J. P., Ausems, M. G. E. M., Blok, M. J., Ligtenberg, M. J. L., Rookus, M. A., Devilee, P., Verhoef, S., Van Os, T. A. M., Wijnen, J. T., Frost, D., Ellis, S., Fineberg, E., Platte, R., Evans, D. G., Izatt, L., Eeles, R. A., Adlard, J., Eccles, D. M., Cook, J., Brewer, C., Douglas, F., Hodgson, S., Morrison, P. J., Side, L. E., Donaldson, A., Houghton, C., Rogers, M. T., Dorkins, H., Eason, J., Gregory, H., Mccann, E., Murray, A., Calender, A., Hardouin, A., Berthet, P., Delnatte, C., Nogues, C., Lasset, C., Houdayer, C., Leroux, D., Rouleau, E., Prieur, F., Damiola, F., Sobol, H., Coupier, I., Venat Bouvet, L., Castera, L., Gauthier Villars, M., Leone, M., Pujol, P., Mazoyer, S., Bignon, Y. J., Zlowocka Perlowska, E., Gronwald, J., Lubinski, J., Durda, K., Jaworska, K., Huzarski, T., Spurdle, A. B., Viel, A., Peissel, B., Bonanni, B., Melloni, G., Ottini, Laura, Papi, L., Varesco, L., Tibiletti, M. G., Peterlongo, P., Volorio, S., Manoukian, S., Pensotti, V., Arnold, N., Engel, C., Deissler, H., Gadzicki, D., Gehrig, A., Kast, K., Rhiem, K., Meindl, A., Niederacher, D., Ditsch, N., Plendl, H., Preisler Adams, S., Engert, S., Sutter, C., Varon Mateeva, R., Wappenschmidt, B., Weber, B. H. F., Arver, B., Stenmark Askmalm, M., Loman, N., Rosenquist, R., Einbeigi, Z., Nathanson, K. L., Rebbeck, T. R., Blank, S. V., Cohn, D. E., Rodriguez, G. C., Small, L., Friedlander, M., Bae Jump, V. L., Fink Retter, A., Rappaport, C., Gschwantler Kaulich, D., Pfeiler, G., Tea, M. K., Lindor, N. M., Kaufman, B., Shimon Paluch, S., Laitman, Y., Skytte, A. B., Gerdes, A. M., Pedersen, I. S., Moeller, S. T., Kruse, T. A., Jensen, U. B., Vijai, J., Sarrel, K., Robson, M., Kauff, N., Mulligan, A. M., Glendon, G., Ozcelik, H., Ejlertsen, B., Nielsen, F. C., Jonson, L., Andersen, M. K., Ding, Y. C., Steele, L., Foretova, L., Teule, A., Lazaro, C., Brunet, J., Pujana, M. A., Mai, P. L., Loud, J. T., Walsh, C., Lester, J., Orsulic, S., Narod, S. A., Herzog, J., Sand, S. R., Tognazzo, S., Agata, S., Vaszko, T., Weaver, J., Stavropoulou, A. V., Buys, S. S., Romero, A., De La Hoya, M., Aittomaki, K., Muranen, T. A., Duran, M., Chung, W. K., Lasa, A., Dorfling, C. M., Miron, A., Benitez, J., Senter, L., Huo, D., Chan, S. B., Sokolenko, A. P., Chiquette, J., Tihomirova, L., Friebel, T. M., Agnarsson, B. A., K. H., Lu, Lejbkowicz, F., James, P. A., Hall, P., Dunning, A. M., Tessier, D., Cunningham, J., Slager, S. L., Wang, C., Hart, S., Stevens, K., Simard, J., Pastinen, T., Pankratz, V. S., Offit, K., Easton, D. F., Chenevix Trench, G., Antoniou, A. C., Thorne, H., Niedermayr, E., Borg, A., Olsson, H., Jernstrom, H., Henriksson, K., Harbst, K., Soller, M., Kristoffersson, U., Ofverholm, A., Nordling, M., Karlsson, P., Von Wachenfeldt, A., Liljegren, A., Lindblom, A., Bustinza, G. B., Rantala, J., Melin, B., Ardnor, C. E., Emanuelsson, M., Ehrencrona, H., Pigg, M. H., Liedgren, S., Hogervorst, F. B. L., Schmidt, M. K., De Lange, J., Collee, J. M., Van Den Ouweland, A. M. W., Hooning, M. J., Van Asperen, C. J., Tollenaar, R. A., Van Cronenburg, T. C. T. E. F., Kets, C. M., Mensenkamp, A. R., Van Der Luijt, R. B., Aalfs, C. M., Waisfisz, Q., Oosterwijk, J. C., Van Der Hout, H., Mourits, M. J., De Bock, G. H., Peock, S., Miedzybrodzka, Z., Morrison, P., Jeffers, L., Cole, T., Ong, K. R., Hoffman, J., James, M., Paterson, J., Taylor, A., Kennedy, M. J., Barton, D., Porteous, M., Drummond, S., Kivuva, E., Searle, A., Goodman, S., Hill, K., Davidson, R., Murday, V., Bradshaw, N., Snadden, L., Longmuir, M., Watt, C., Gibson, S., Haque, E., Tobias, E., Duncan, A., Jacobs, C., Langman, C., Brady, A., Melville, A., Randhawa, K., Barwell, J., Serra Feliu, G., Ellis, I., Lalloo, F., Taylor, J., Side, L., Male, A., Berlin, C., Collier, R., Claber, O., Jobson, I., Walker, L., Mcleod, D., Halliday, D., Durell, S., Stayner, B., Shanley, S., Rahman, N., Houlston, R., Stormorken, A., Bancroft, E., Page, E., Ardern Jones, A., Kohut, K., Wiggins, J., Castro, E., Killick, E., Martin, S., Rea, G., Kulkarni, A., Quarrell, O., Bardsley, C., Goff, S., Brice, G., Winchester, L., Eddy, C., Tripathi, V., Attard, V., Lehmann, A., Eccles, D., Lucassen, A., Crawford, G., Mcbride, D., Smalley, S., Sinilnikova, O., Barjhoux, L., Verny Pierre, C., Giraud, S., Stoppa Lyonnet, D., Buecher, B., Moncoutier, V., Belotti, M., Tirapo, C., De Pauw, A., Bressac De Paillerets, B., Caron, O., Uhrhammer, N., Bonadona, V., Handallou, S., Bourdon, V., Noguchi, T., Remenieras, A., Eisinger, F., Peyrat, J. P., Fournier, J., Revillion, F., Vennin, P., Adenis, C., Lidereau, R., Demange, L., Muller, D., Fricker, J. P., Barouk Simonet, E., Bonnet, F., Bubien, V., Sevenet, N., Longy, M., Toulas, C., Guimbaud, R., Gladieff, L., Feillel, V., Dreyfus, H., Rebischung, C., Peysselon, M., Coron, F., Faivre, L., Lebrun, M., Kientz, C., Ferrer, S. F., Frenay, M., Mortemousque, I., Coulet, F., Colas, C., Soubrier, F., Sokolowska, J., Bronner, M., Lynch, H. T., Snyder, C. L., Angelakos, M., Maskiell, J., Dite, G.

Publikováno v: Couch, F J, Wang, X S, McGuffog, L, Lee, A, Olswold, C, Kuchenbaecker, K B, Soucy, P, Fredericksen, Z, Barrowdale, D, Dennis, J, Gaudet, M M, Dicks, E, Kosel, M, Healey, S, Sinilnikova, O M, Bacot, F, Vincent, D, Hogervorst, F B L, Peock, S, Stoppa-Lyonnet, D, Jakubowska, A, Radice, P, Schmutzler, R K, Domchek, S M, Piedmonte, M, Singer, C F, Friedman, E, Thomassen, M, Hansen, T V O, Neuhausen, S L, Szabo, C I, Blanco, I, Greene, M H, Karlan, B Y, Garber, J, Phelan, C M, Weitzel, J N, Montagna, M, Olah, E, Andrulis, I L, Godwin, A K, Yannoukakos, D, Goldgar, D E, Caldes, T, Nevanlinna, H, Osorio, A, Terry, M B, Daly, M B, van Rensburg, E J, Hamann, U, Ramus, S J, Toland, A E, Caligo, M A, Olopade, O I, Tung, N, Claes, K, Beattie, M S, Southey, M C, Imyanitov, E N, Tischkowitz, M, Janavicius, R, John, E M, Kwong, A, Diez, O, Balmana, J, Barkardottir, R B, Arun, B K, Rennert, G, Teo, S H, Ganz, P A, Campbell, I, van der Hout, A H, van Deurzen, C H M, Seynaeve, C, Garcia, E B G, van Leeuwen, F E, Meijers-Heijboer, H E J, Gille, J J P, Ausems, M G E M, Blok, M J, Ligtenberg, M J L, Rookus, M A, Devilee, P, Verhoef, S, van Os, T A M, Wijnen, J T, Frost, D, Ellis, S, Fineberg, E, Platte, R, Evans, D G, Izatt, L, Eeles, R A, Adlard, J, Eccles, D M, Cook, J, Brewer, C, Douglas, F & Hodgson, S 2013, ' Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk ', PLoS Genetics, vol. 9, no. 3, e1003212 . https://doi.org/10.1371/journal.pgen.1003212
Plos Genetics, 9
kConFab Investigators 2013, ' Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk ', P L o S Genetics, vol. 9, no. 3, e1003212., pp. 1-21 . https://doi.org/10.1371/journal.pgen.1003212
Plos Genetics, 9(3):1003212. Public Library of Science
Plos Genetics, 9, 3
PLoS Genetics
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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PLoS genetics, 9(3):e1003212. PUBLIC LIBRARY SCIENCE
PLoS Genetics; 9(3), no e1003212 (2013)
PLoS Genetics, 9(3)
PLoS Genetics, 2013, 9, pp.e1003212. ⟨10.1371/journal.pgen.1003212⟩
Digital.CSIC. Repositorio Institucional del CSIC
PLoS Genetics (print), 9(3). Public Library of Science
Couch, F J, Wang, X, McGuffog, L, Lee, A R, Olswold, C, Kuchenbaecker, K B, Soucy, P, Fredericksen, Z, Barrowdale, D, Dennis, J, Gaudet, M M, Dicks, E, Kosel, M, Healey, S, Sinilnikova, O M, Lee, A, Bacot, F, Vincent, D, Hogervorst, F B L, Peock, S, Stoppa-Lyonnet, D, Jakubowska, A, Radice, P, Schmutzler, R K, Domchek, S M, Piedmonte, M, Singer, C F, Friedman, E, Thomassen, M, Hansen, T V O, Neuhausen, S L, Szabo, C I, Blanco, I, Greene, M H, Karlan, B Y, Garber, J, Phelan, C M, Weitzel, J N, Montagna, M, Olah, E, Andrulis, I L, Godwin, A K, Yannoukakos, D, Goldgar, D E, Caldes, T, Nevanlinna, H, Skytte, A-B, Gerdes, A-M, Moeller, S T, Kruse, T A & kConFab Investigators 2013, ' Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk ', P L o S Genetics, vol. 9, no. 3, pp. e1003212 . https://doi.org/10.1371/journal.pgen.1003212
PLOS GENETICS
PLoS Genetics, Vol 9, Iss 3, p e1003212 (2013)
Dipòsit Digital de la UB
Universidad de Barcelona
PLoS Genetics, 9(3):e1003212. Public Library of Science
Recercat. Dipósit de la Recerca de Catalunya
Couch, F J, Wang, X, McGuffog, L, Lee, A R, Olswold, C, Kuchenbaecker, K B, Soucy, P, Fredericksen, Z, Barrowdale, D, Dennis, J, Gaudet, M M, Dicks, E, Kosel, M, Healey, S, Sinilnikova, O M, Lee, A, Bacot, F, Vincent, D, Hogervorst, F B L, Peock, S, Stoppa-Lyonnet, D, Jakubowska, A, Investigators, K, Radice, P, Schmutzler, R K, Domchek, S M, Piedmonte, M, Singer, C F, Friedman, E, Thomassen, M, Hansen, T V O, Neuhausen, S L, Szabo, C I, Blanco, I, Greene, M H, Karlan, B Y, Garber, J, Phelan, C M, Weitzel, J N, Montagna, M, Olah, E, Andrulis, I L, Godwin, A K, Yannoukakos, D, Goldgar, D E, Caldes, T, Nevanlinna, H, Osorio, A, Pedersen, I S, Jensen, U B, SWE-BRCA & Skytte, A-B S 2013, ' Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk ', PLoS genetics, vol. 9, no. 3, pp. e1003212 . https://doi.org/10.1371/journal.pgen.1003212
PLoS Genetics, Public Library of Science, 2013, 9, pp.e1003212. ⟨10.1371/journal.pgen.1003212⟩
PLoS Genetics; Vol 9
PLoS genetics, 9(3). Public Library of Science
Plos Genetics, 9(3). Public Library of Science

This is an open-access article distributed under the terms of the Creative Commons Attribution License.-- CIMBA et al.
BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::977d68472191e441a9af93425ef49847
https://research.vumc.nl/en/publications/bcc1545a-afb1-4d84-b0a1-4bfa08ea8a06

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

Autor: Ramus, Susan J., Antoniou, Antonis C., Kuchenbaecker, Karoline B., Penny, Soucy, Jonathan, Beesley, Xiaoqing, Chen, Lesley, Mcguffog, Sinilnikova, Olga M., Sue, Healey, Daniel, Barrowdale, Andrew, Lee, Mads, Thomassen, Anne Marie Gerdes, Kruse, Torben A., Uffe Birk Jensen, Anne Bine Skytte, Caligo, Maria A., Annelie, Liljegren, Annika, Lindblom, Hakan, Olsson, Ulf, Kristoffersson, Marie Stenmark Askmalm, Swe Brca Melin, B., Swe, Brca, Domchek, Susan M., Domchek, Sm, Nathanson, Katherine L., Rebbeck, Timothy R., Anna, Jakubowska, Jan, Lubinski, Katarzyna, Jaworska, Katarzyna, Durda, Elzbieta, Złowocka, Jacek, Gronwald, Tomasz, Huzarski, Tomasz, Byrski, Cezary, Cybulski, Aleksandra Toloczko Grabarek, Ana, Osorio, Javier, Benitez, Mercedes, Duran, Maria Isabel Tejada, Ute, Hamann, Matti, Rookus, Van Leeuwen, Flora E., Aalfs, Cora M., Meijers Heijboer, Hanne E. J., Van Asperen, Christi J., Van Roozendaal, K. E. P., Nicoline, Hoogerbrugge, Collee, Margriet J., Margriet Collee, J., Mieke, Kriege, Hebon Van Der Luijt, R. B., Embrace, Embrace, Hebon, Susan, Peock, Debra, Frost, Ellis, Steve D., Radka, Platte, Elena, Fineberg, Gareth Evans, D., Fiona, Lalloo, Chris, Jacobs, Ros, Eeles, Julian, Adlard, Rosemarie, Davidson, Diana, Eccles, Trevor, Cole, Jackie, Cook, Joan, Paterson, Fiona, Douglas, Carole, Brewer, Shirley, Hodgson, Morrison, Patrick J., Lisa, Walker, Porteous, Mary E., John Kennedy, M., Harsh, Pathak, Godwin, Andrew K., Dominique Stoppa Lyonnet, Virginie Caux Moncoutier, Antoine Pauw, D. E., De Pauw, A., Marion Gauthier Villars, Sylvie, Mazoyer, Melanie, Leone, Alain, Calender, Christine, Lasset, Valerie, Bonadona, Agnes, Hardouin, Pascaline, Berthet, Yves Jean Bignon, Nancy, Uhrhammer, Laurence, Faivre, Catherine, Loustalot, Gemo, Saundra, Buys, Mary, Daly, Buys, Daly, S., Alex, Miron, Beth, Terry M., Mary Beth Terry, Terry, M. B., Chung, Wendy K., Esther, John M., John, Em, Melissa, Southey, David, Goldgar, Singer, Christian F., Muy Kheng Tea, Georg, Pfeiler, Anneliese Fink Retter, Hansen, Thomas V. O., Hansen, Tv, Bent, Ejlertsen, Oskar Th Johannsson, Kenneth, Offit, Tomas, Kirchhoff, Gaudet, Mia M., Joseph, Vijai, Mark, Robson, Marion, Piedmonte, Kelly Anne Phillips, Linda Van Le, Hoffman, James S., Amanda Ewart Toland, Ewart Toland, A., Marco, Montagna, Silvia, Tognazzo, Evgeny, Imyanitov, Claudine, Isaacs, Issacs, C., Ramunas, Janavicius, Conxi, Lazaro, Ignacio, Blanco, Eva, Tornero, Matilde, Navarro, Moysich, Kirsten B., Karlan, Beth Y., Jenny, Gross, Edith, Olah, Tibor, Vaszko, Soo Hwang Teo, Ganz, Patricia A., Beattie, Mary S., Dorfling, Cecelia M., Van Rensburg, Elizabeth J., Orland, Diez, Ava, Kwong, Schmutzler, Rita K., Barbara, Wappenschmidt, Christoph, Engel, Alfons, Meindl, Nina, Ditsch, Norbert, Arnold, Simone, Heidemann, Dieter, Niederacher, Sabine Preisler Adams, Dorotehea, Gadzicki, Raymonda Varon Mateeva, Helmut, Deissler, Andrea, Gehrig, Christian, Sutter, Karin, Kast, Britta, Fiebig, Dieter, Schafer, Trinidad, Caldes, Miguel De La Hoya, Heli, Nevanlinna, Kristiina, Aittomaki, Marie, Plante, Kconfab Spurdle, A. B., Kconfab, Neuhausen, Susan L., Neuhausen, Sl, Yuan Chun Ding, Xianshu, Wang, Noralane, Lindor, Zachary, Fredericksen, Shane Pankratz, V., Paolo, Peterlongo, Siranoush, Manoukian, Bernard, Peissel, Daniela, Zaffaroni, Bernardo, Bonanni, Loris, Bernard, Riccardo, Dolcetti, Laura, Papi, Ottini, Laura, Paolo, Radice, Greene, Mark H., Mai, Phuong L., Andrulis, Irene L., Gord, Glendon, Ocgn Ozcelik, H., Ocgn, Pharoah, Paul D. P., Pharoah, Pd, Gayther, Simon A., Jacques, Simard, Easton, Douglas F., Couch, Fergus J., Georgia Chenevix Trench, Behalf Of The Consortium Of Investigators Of Modifiers Of Brca1/2, O. N.

Publikováno v: Human Mutation
Human Mutation, Wiley, 2012, 33, pp.690-702. ⟨10.1002/humu.22025⟩
Recercat. Dipósit de la Recerca de Catalunya
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Human mutation, 33(4), 690-702. Wiley-Liss Inc.
Human Mutation, 2012, 33, pp.690-702. ⟨10.1002/humu.22025⟩
Dipòsit Digital de la UB
Universidad de Barcelona
Human Mutation; Vol 33
Human Mutation, 33, 690-702
Human Mutation, 33, 4, pp. 690-702
Ramus, S J, Antoniou, A C, Kuchenbaecker, K B, Soucy, P, Beesley, J, Chen, X, McGuffog, L, Sinilnikova, O M, Healey, S, Barrowdale, D, Lee, A R, Thomassen, M, Gerdes, A-M A, Kruse, T A, Jensen, U B, Skytte, A-B S, Caligo, M A, Liljegren, A, Lindblom, A, Olsson, H, Kristoffersson, U, Stenmark-Askmalm, M, Melin, B, Domchek, S M, Nathanson, K L, Rebbeck, T R, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Złowocka, E, Gronwald, J, Huzarski, T, Byrski, T, Cybulski, C, Toloczko-Grabarek, A, Osorio, A, Benitez, J, Duran, M, Tejada, M-I, Hamann, U, Rookus, M, van Leeuwen, F E, Aalfs, C M, Meijers-Heijboer, H E J, van Asperen, C J, van Roozendaal, K E P, Hoogerbrugge, N, Collée, J M, Hansen, T V O & SWE-BRCA 2012, ' Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers ', Human Mutation, vol. 33, no. 4, pp. 690-702 . https://doi.org/10.1002/humu.22025
Human Mutation, 33(4), 690-702. Wiley
Ramus, S J, Antoniou, A C, Kuchenbaecker, K B, Soucy, P, Beesley, J, Chen, X, McGuffog, L, Sinilnikova, O M, Healey, S, Barrowdale, D, Lee, A, Thomassen, M, Gerdes, A-M, Kruse, T A, Jensen, U B, Skytte, A-B, Caligo, M A, Liljegren, A, Lindblom, A, Olsson, H, Kristoffersson, U, Stenmark-Askmalm, M, Melin, B, Domchek, S M, Nathanson, K L, Rebbeck, T R, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Złowocka, E, Gronwald, J, Huzarski, T, Byrski, T, Cybulski, C, Toloczko-Grabarek, A, Osorio, A, Benitez, J, Duran, M, Tejada, M-I, Hamann, U, Rookus, M, van Leeuwen, F E, Aalfs, C M, Meijers-Heijboer, H E J, van Asperen, C J, van Roozendaal, K E P, Hoogerbrugge, N, Collée, J M, Kriege, M & SWE-BRCA 2012, ' Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers ', Human Mutation, vol. 33, no. 4, pp. 690-702 . https://doi.org/10.1002/humu.22025
Human Mutation, 33(4), 690-702
Human Mutation, 33(4), 690-702. Wiley-Liss Inc.

Germline mutations in BRCA1 and BRCA2 are associated with increased risks of breast and ovarian cancer. A genome-wide association study (GWAS) identified six alleles associated with risk of ovarian cancer for women in the general population. We evalu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::886c548d4d0ecd806f9e2a03ffa5654c
https://hdl.handle.net/1887/97590