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5. Anastrozole versus tamoxifen for the prevention of locoregional and contralateral breast cancer in postmenopausal women with locally excised ductal carcinoma in situ (IBIS-II DCIS): A double-blind, randomised controlled trial

Author

Forbes, John F, Sestak, Ivana, Howell, Anthony, Bonanni, Bernardo, Bundred, Nigel, Levy, Christelle, von Minckwitz, Gunter, Eiermann, Wolfgang, Neven, Patrick, Stierer, Michael, Holcombe, Chris, Coleman, Robert E, Jones, Louise, Ellis, Ian, Cuzick, Jack, Sainsbury, Richard, Garber, Judy, Warwick, Jane, Buchanan, Mary, Buser, Katharina, Cawthorn, Simon, Coleman, Robert, Dowsett, Mitch, Eastell, Richard, Ejlertsen, Bent, Forbes, John, Kahan, Zsuzsanna, Baclesse, François, Mansel, Robert, Palva, Tiina, Rydén, Lisa, Stuart, Mary, Vaz, Fatima, Marsiglia, Hugo, Benyoucef, Ahmed, Berton-Rigaud, Dominique, Loustalot, Catherine, Serin, Daniel, Kerbrat, Pierre, Eymard, Jean-Christophe, Giard-Lefevre, Sylvia, Bonichon-Lamichhane, Nathalie, Monnier, Alain, Tubiana-Mathieu, Nicole, Piot, Gilles, de Lara, Christine Tunon, Bernard, Olivier, Simon-Swirski, Hélène, Gladieff, Laurence, Regaud, I Claudius, Fouchet-Goudier, Marie-Joseph, Dohollou, Nadine, Aquitaine, Nord, Elgard-Maitre, Anne-Marie, Bergerat, Jean-Pierre, Petit, Thierry, Marti, Adina, Toussaint, Caroline, Del Piano, Francesco, Ibrahim, Mahmoud, Fric, Danièle, Hönig, Arnd, Müller, Volkmar, Marmé, Frederik, Rautenberg, Beate, Schmidt, Marcus, Hanusch, Claus, Paepke, Stefan, Kaltenecker, Gabriele, Lemster, Sabine, Tio, Joke, Reimer, Toralf, Schnappauf, Benjamin, Baumann, Klaus, Schrader, Iris, Mundhenke, Christoph, Liedtke, Cornelia, Meinerz, Wolfgang, Thomssen, Christoph, Christl, Klaus, Hitschold, Thomas, Goerke, Kay, Kast, Karin, Runnebaum, Ingo, Lindner, Christoph, Scheidel, Peter, Herwig, Uwe, Bangemann, Nikola, Sommer, Harald, Göhring, Kornelia, Tulusan, Augustinus, Stauß, Eva, Köhler, Günter, Zahm, Dirk, Augustin, Doris, Hocke, Andrea, Neunhöffer, Tanja, Schmatloch, Sabine, Heinrich, Georg, Groß, Sabine, Breitbach, G P, Scharl, Anton, Klare, Peter, Stefek, Andrea, Hoffmann, Gerald, Martignoni, Franca, Weiss, Erich, Emons, Günter, Tesch, Hans-Christian, Beckmann, Matthias, Schmutzler, Rita, Schütte, Martin, Aktas, Bahriye, Hille-Betz, Ursula, Deryal, Mustafa, Dan Costa, Serban, Blümel, Beate, Göhring, Uwe-Jochen, Kleine-Tebbe, Anke, Schumacher, Claudia, Jasmin, Pourfard, Christoph, Uleer, Kullmer, Uwe, Krabisch, Petra, Gätje, Regine, Schwenzer, Thomas, Hindenburg, Hans-Joachim, Rempen, Andreas, Höffkes, Heinz-Gert, Stickeler, Elmar, Reffert, Christian, Seitz, Stephan, Splitt, Gerd, Böhne, Petra, Gnauert, Karsten, Strittmatter, Hans-Joachim, Baake, Gerold, Rezai, Mahdi, Noesselt, Thomas, Köhne, C-H, Hanf, Volker, Strumberg, Dirk, Dall, Peter, Schleicher, Peter, Schleicher, Bernd, Beldermann, Frank, Berghorn, Michael, Baerens, Dirk-Thoralf, Kolberg, Hans-Christian, Bauer, Lelia, Brucker, Cosima, Steck, Thomas, Boyle, Frances, Chaudhuri, Anupam, Wagga, Wagga, Moylan, Eugene, Donovan, Jenny, Della-Fiorentina, Stephen, Abdi, Ehtesham, Marx, Gavin, Beadle, Geoffrey, Donovan, Michael, Bennett, Ian, Gill, Peter Grantley, Baker, Caroline, Masters, Richard, Blum, Robert, Collins, John, Law, Michael, Hart, Stewart, Kannourakis, George, Snyder, Raymond, Joseph, David, McCrystal, Michael, Campbell, Ian, Jakesz, Raimund, Selim, Ursula, Singer, Christian, Heck, Dietmar, Greil, Richard, Ramoni, Angela, Bjelic-Radisic, Vesna, Reichenauer, Arno, Horvath, Wilfried, Thaler, Josef, Fridrik, Michael, Keckstein, Joerg, Jan, Lamote, L'Hermitte, Marc, Roelstrate, Heidi, Dirix, Luc, Bambust, Inneke, Seret, Monique, Liebens, Fabienne, Maerevoet, Maria, D'Hondt, Lionel, Berliere, Martine, Nogaret, Jean-Marie, Simon, Phillipe, O'Hanlon, Deirdre, Redmond, Henry Paul, Hill, Arnold, Evoy, Denis, Kerin, Michael, Gupta, Rajnish, Martin, Michael J, Fritis, Marcela, Schwartz, Ricardo, Yañez, Maria Loreto, Peralta, Octavio, Graiff, Claudio, Artioli, Fabrizio, Generali, Daniele, Orzalesi, Lorenzo, Visini, Marilena, Michiara, Maria, Pavesi, Lorenzo, Ravaioli, Alberto, Porpiglia, Mauro, Puglisi, Fabio, Pinotti, Graziella, Brincat, Stephen, Buser, Katharina S, Rabaglio, Manuela, Rauch, Daniel, Chappuis, Pierre O, Zaman, Khalil, Bucher, Susanne, Bolliger, Barbara, Pagani, Olivia, Falck, Anna-Karin, Kaij, Jakob, Margolin, Sara, Muslumanoglum, Mahmut, Bertelli, Gianfilippo, Bramley, Maria, Bristol, James, Chandrasekharan, Sankaran, Crellin, Perric, Daoud, Raouf, Dodwell, David, Drew, Philip, Dubey, Sidharth, Evans, Abigail, Ferguson, Douglas, Gendy, Raafat, Hamed, Hisham, Harding-McKean, Claudia, Horgan, Kieran, Iqbal, Shabana, Jibril, Jibril A, Kokan, Jalal, Kneeshaw, Peter, Lansdown, Mark, Lennard, Tom, Linforth, Rick, McIntosh, Stuart, Mitra, Sankha, Neades, Glyn, Ooi, Jane Louise, Patel, Ashraf, Rayter, Zenon, Reichert, Robert, Roberts, Fiona, Roche, Nicola, Rogers, Colin, Royle, Gavin, Shah, Elizabeth, Sibbering, Mark, Skene, Anthony Iain, Smith, Simon, Sparrow, Geoffrey, Thompson, Alastair, Vaidya, Jayant, Wolstenholme, Virginia, Wood, Jeremy, Yiangou, Constantinos, Zammit, Charles, Thornton, Rochelle, Probert, Flonda, Fong, Akiko, Francis, Nicole, Gili, Manuela, Eigenberger, Rosita, Supply, Daisy, Lefever, Inge, Muller, Bettina, Zlatar, Zdenka, Feer, Petra, Gkantiragas, Ioannis, Virkki, Marjo, Everhard, Sibille, Lemonnier, Jerome, Garcia, Sara, Ghanem, Saliha, Cole, Anna, O'Hare, Debra, Cronin, Elaine, Roche, Trudi, Kennedy, Emer, Ballot, Jo, Killilea, Niamh, Jennings, Marian, Lowry, Laura, Maxwell, Moira, Burke, Margaret, Gonzaga, Aliana Guerrieri, Bollani, Giorgia, Bianchetti, Andrea, Scalvini, Anna, Cretella, Elisabetta, Pasqualini, Antonella, Gobbi, Angela, Roselli, Jenny, Lagati, Angelita, Rapacchi, Elena, Lanza, Annalisa, Pini, Emanuela, Picardo, Elisa, Maggiorotto, Furio, Sottile, Roberta, Vallini, Ilaria, Cilia, Nadia, Patel, Mital, Bamford, Linda, Robertshaw, Helen, Inman, Hayle, Hill, Naomi, Dexter, Jane, Peasgood, Emily, Batty, Imogen, Cocks, Shirley, Mistry, Raksha, Sidders, Mary, Foulstone, Emily, Garlicka, Helen, Dawe, Catherine, Elliott, Jackie, Rooke, Kathy, Morris, Christine, Lester, Yvonne, Gibson, Sian, Chittock, Jill, Skelton, Amy, Gallimore, Elizabeth, Downes, Charlotte, Billett, Lynn, Caddy, Simone, Cumming, Helen, Cowell-Smith, Sharon, Turner, Caroline, Fernando, Sunjalee, Goodwin, Sarah, Taylor, Jo-Anne, Baines, Kizzy, Downer, Susan, Pilcher, Alice, Dobson, Tracey, Osborne, Lynn, Kuenzig, Greg, Hancock, Denise, Melia, Deborah, Gullaksen, Elaine, Hartup, Susan, Henson, Amy, Gibb, Jane, Coombs, Sarah, Taylor, Caroline, Kirkby, Amy, Thomas, Issy, Makinson, Karen, Kano, Yukie, Shah, Zoheb, Hardstaff, Lisa, Townley, Barbara, Hill, Philippa, McCurrie, Marilyn, Grassby, Sue, Henderson, Pamela, Talbot, Elizabeth, Bell, Ashley, Kanani, Reshma, Johnson, Joanne, Jones, Richard, Foster, Mel, Troke, Becky, Congdon, Hilary, Pascoe, Julie, Whelan, Sian, Edwards, Jenna, Brinkworth, Elaine, Blizard, Sheila, Clarke, Alison, Stevens, Kim, Harvey, Carol, Stacey, Jill, Mitchell, Sadie, Lowry, Tracey, Buckley, Sarah, Collins, Clare, Green, Liz, Jones, Helen, Conteh, Veronica, Ducket, Tracey, Kotze, Michelle, Strider, Paula, Stouraitis, Marina, Sundberg, Jan, Babiker, Abdel, Collins, Rory, Klijn, Jan, Ralston, Stuart, Tattersall, Martin, Weller, Ian, De Sousa, Andreia, Edwards, Rob, Ferguson, Sheila, Hickman, Jane, Johnson, Damian, Haidar, Nadia, Hammond, Victoria, Heighway, Emma, Ndoutoumou, Amalia, Sahota, Navdip, White, Laura, Aigret, Benoit, Batra, Priyanka, Knox, Jill, Oke, Adedayo, Ostler, Richard, and Sasieni, Peter

Subjects
Medicine (all), Medizin, skin and connective tissue diseases
Abstract

Third-generation aromatase inhibitors are more effective than tamoxifen for preventing recurrence in postmenopausal women with hormone-receptor-positive invasive breast cancer. However, it is not known whether anastrozole is more effective than tamoxifen for women with hormone-receptor-positive ductal carcinoma in situ (DCIS). Here, we compare the efficacy of anastrozole with that of tamoxifen in postmenopausal women with hormone-receptor-positive DCIS.In a double-blind, multicentre, randomised placebo-controlled trial, we recruited women who had been diagnosed with locally excised, hormone-receptor-positive DCIS. Eligible women were randomly assigned in a 1:1 ratio by central computer allocation to receive 1 mg oral anastrozole or 20 mg oral tamoxifen every day for 5 years. Randomisation was stratified by major centre or hub and was done in blocks (six, eight, or ten). All trial personnel, participants, and clinicians were masked to treatment allocation and only the trial statistician had access to treatment allocation. The primary endpoint was all recurrence, including recurrent DCIS and new contralateral tumours. All analyses were done on a modified intention-to-treat basis (in all women who were randomised and did not revoke consent for their data to be included) and proportional hazard models were used to compute hazard ratios and corresponding confidence intervals. This trial is registered at the ISRCTN registry, number ISRCTN37546358.Between March 3, 2003, and Feb 8, 2012, we enrolled 2980 postmenopausal women from 236 centres in 14 countries and randomly assigned them to receive anastrozole (1449 analysed) or tamoxifen (1489 analysed). Median follow-up was 7·2 years (IQR 5·6-8·9), and 144 breast cancer recurrences were recorded. We noted no statistically significant difference in overall recurrence (67 recurrences for anastrozole vs 77 for tamoxifen; HR 0·89 [95% CI 0·64-1·23]). The non-inferiority of anastrozole was established (upper 95% CI

Published
2016

6. Emotional distress and subjective impact of the disease in young women with breast cancer and their spouses

Author

Duprez, Christelle, primary, Vanlemmens, Laurence, additional, Untas, Aurélie, additional, Antoine, Pascal, additional, Lesur, Anne, additional, Loustalot, Catherine, additional, Guillemet, Cécile, additional, Leclercq, Monelle, additional, Segura, Carine, additional, Carlier, Damien, additional, Lefeuvre-Plesse, Claudia, additional, Simon, Hélène, additional, Frenel, Jean Sébastien, additional, and Christophe, Véronique, additional

Published
2017
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7. The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?

Author

Eliade, Marie, primary, Skrzypski, Jeremy, additional, Baurand, Amandine, additional, Jacquot, Caroline, additional, Bertolone, Geoffrey, additional, Loustalot, Catherine, additional, Coutant, Charles, additional, Guy, France, additional, Fumoleau, Pierre, additional, Duffourd, Yannis, additional, Arnould, Laurent, additional, Delignette, Alexandra, additional, Padéano, Marie-Martine, additional, Lepage, Côme, additional, Raichon-Patru, Géraldine, additional, Boudrant, Axelle, additional, Bône-Lépinoy, Marie-Christine, additional, Villing, Anne-Laure, additional, Charpin, Aurélie, additional, Peignaux, Karine, additional, Chevrier, Sandy, additional, Vegran, Frédérique, additional, Ghiringhelli, François, additional, Boidot, Romain, additional, Sevenet, Nicolas, additional, Lizard, Sarab, additional, and Faivre, Laurence, additional

Published
2016
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8. The human near-term myometrial beta 3-adrenoceptor but not the beta 2-adrenoceptor is resistant to desensitisation after sustained agonist stimulation

Author

Rouget, Céline, Breuiller-Fouché, Michelle, Mercier, Frédéric, Leroy, Marie-Josèphe, Loustalot, Catherine, Naline, Emmanuel, Frydman, René, Croci, Tiziano, Morcillo, Esteban, Advenier, Charles, Bardou, Marc, Pharmacologie, Université Paris Descartes - Paris 5 (UPD5)-UPRES EA220, La grossesse normale et pathologique: développement et fonctions du placenta et de l'utérus (UMR_S 767), Institut des sciences du Médicament -Toxicologie - Chimie - Environnement (IFR71), Institut de Recherche pour le Développement (IRD)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'anesthésie [Béclère], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Gynécologie Obstétrique, Médecine Foetale et Stérilité Conjugale - Chirurgie Gynécologie et Oncologique [CHU de Dijon], Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de gynécologie-obstétrique, médecine de la reproduction [Béclère], Sanofi-Aventis research center, Sanofi-Aventis, Department of Pharmacology, University of Valencia, UPRES EA220, Laboratoire de Physiopathologie et de Pharmacologie Cardiovasculaire Expérimentale (LPPCE), Université de Bourgogne (UB), Breuiller-Fouche, Michelle, Université Paris Descartes - Paris 5 ( UPD5 ) -UPRES EA220, La grossesse normale et pathologique: développement et fonctions du placenta et de l'utérus ( UMR_S 767 ), Institut des sciences du Médicament -Toxicologie - Chimie - Environnement ( IFR71 ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Ecole Nationale Supérieure de Chimie de Paris- Chimie ParisTech-PSL ( ENSCP ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut de Recherche pour le Développement ( IRD ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Ecole Nationale Supérieure de Chimie de Paris- Chimie ParisTech-PSL ( ENSCP ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut de Recherche pour le Développement ( IRD ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Paris-Sud - Paris 11 ( UP11 ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Antoine Béclère, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Laboratoire de Pharmacologie et Toxicologie, Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), and Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
MESH : Receptors, Adrenergic, beta-3, MESH : Adrenergic beta-Agonists, MESH : Receptors, Adrenergic, beta-2, Adrenergic beta-3 Receptor Agonists, MESH : Analysis of Variance, MESH : Dose-Response Relationship, Drug, MESH: Adrenergic beta-Agonists, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, In Vitro Techniques, MESH: Dose-Response Relationship, Drug, MESH: Pregnancy, Pregnancy, MESH: Analysis of Variance, Humans, MESH: Protein Binding, Albuterol, MESH : Female, MESH : Albuterol, Adrenergic beta-2 Receptor Agonists, [SDV.BC] Life Sciences [q-bio]/Cellular Biology, Analysis of Variance, MESH: Humans, Dose-Response Relationship, Drug, [ SDV.BC ] Life Sciences [q-bio]/Cellular Biology, MESH : Myometrium, MESH: Albuterol, MESH : Humans, MESH : Protein Binding, Adrenergic beta-Agonists, MESH : Pregnancy, Receptors, Adrenergic, beta-3, Papers, Myometrium, MESH: Myometrium, Female, Receptors, Adrenergic, beta-2, MESH: Receptors, Adrenergic, beta-3, MESH: Receptors, Adrenergic, beta-2, MESH: Female, Protein Binding
Abstract

International audience; 1. In order to compare the beta(2)- and beta(3)-adrenoceptor (beta-AR) desensitisation process in human near-term myometrium, we examined the influence of a pretreatment of myometrial strips with either a beta(2)- or a beta(3)-AR agonist (salbutamol or SR 59119A, respectively, both at 10 microm, for 5 and 15 h) on the relaxation and the cyclic adenosine monophosphate (cAMP) production induced by these agonists. 2. To assess some of the mechanisms potentially implicated in the beta-AR desensitisation process, we studied the influence of such treatment on the number of beta(2)- and beta(3)-AR binding sites, the beta(2)- and beta(3)-AR transcripts expression and the phosphodiesterase 4 (PDE4) activity. 3. Salbutamol, but not SR 59119A, concentration-response curve (CRC) was shifted by a 15 h salbutamol preincubation, with a significant difference in -log EC(20) values (6.31+/-0.13 vs 5.58+/-0.24, for control and 15 h salbutamol pretreatment, respectively, P

Published
2004
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9. Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.

Author

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

Abstract

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 evaluated four of these loci as potential modifiers of ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Four single-nucleotide polymorphisms (SNPs), rs10088218 (at 8q24), rs2665390 (at 3q25), rs717852 (at 2q31), and rs9303542 (at 17q21), were genotyped in 12,599 BRCA1 and 7,132 BRCA2 carriers, including 2,678 ovarian cancer cases. Associations were evaluated within a retrospective cohort approach. All four loci were associated with ovarian cancer risk in BRCA2 carriers; rs10088218 per-allele hazard ratio (HR) = 0.81 (95% CI: 0.67-0.98) P-trend = 0.033, rs2665390 HR = 1.48 (95% CI: 1.21-1.83) P-trend = 1.8 × 10(-4), rs717852 HR = 1.25 (95% CI: 1.10-1.42) P-trend = 6.6 × 10(-4), rs9303542 HR = 1.16 (95% CI: 1.02-1.33) P-trend = 0.026. Two loci were associated with ovarian cancer risk in BRCA1 carriers; rs10088218 per-allele HR = 0.89 (95% CI: 0.81-0.99) P-trend = 0.029, rs2665390 HR = 1.25 (95% CI: 1.10-1.42) P-trend = 6.1 × 10(-4). The HR estimates for the remaining loci were consistent with odds ratio estimates for the general population. The identification of multiple loci modifying ovarian cancer risk may be useful for counseling women with BRCA1 and BRCA2 mutations regarding their risk of ovarian cancer.

Published
2012
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10. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers : implications for risk prediction

Author

Antoniou, Antonis C., Beesley, Jonathan, McGuffog, Lesley, Sinilnikova, Olga M., Healey, Sue, Neuhausen, Susan L., Ding, Yuan Chun, Rebbeck, Timothy R., Weitzel, Jeffrey N., Lynch, Henry T., Isaacs, Claudine, Ganz, Patricia A., Tomlinson, Gail, Olopade, Olufunmilayo I, Couch, Fergus J., Wang, Xianshu, Lindor, Noralane M., Pankratz, Vernon S, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Barile, Monica, Viel, Alessandra, Allavena, Anna, Dall'Olio, Valentina, Peterlongo, Paolo, Szabo, Csilla I, Zikan, Michal, Claes, Kathleen, Poppe, Bruce, Foretova, Lenka, Mai, Phuong L., Greene, Mark H., Rennert, Gad, Lejbkowicz, Flavio, Glendon, Gord, Ozcelik, Hilmi, Andrulis, Irene L., Thomassen, Mads, Gerdes, Anne-Marie, Sunde, Lone, Cruger, Dorthe, Birk Jensen, Uffe, Caligo, Maria, Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Dubrovsky, Maya, Cohen, Shimrit, Borg, Ake, Jernström, Helena, Lindblom, Annika, Rantala, Johanna, Stenmark-Askmalm, Marie, Melin, Beatrice, Nathanson, Kate, Domchek, Susan, Jakubowska, Ania, Lubinski, Jan, Huzarski, Tomasz, Osorio, Ana, Lasa, Adriana, Durán, Mercedes, Tejada, Maria-Isabel, Godino, Javier, Benitez, Javier, Hamann, Ute, Kriege, Mieke, Hoogerbrugge, Nicoline, van der Luijt, Rob B, van Asperen, Christi J, Devilee, Peter, Meijers-Heijboer, E J, Blok, Marinus J, Aalfs, Cora M, Hogervorst, Frans, Rookus, Matti, Cook, Margaret, Oliver, Clare, Frost, Debra, Conroy, Don, Evans, D Gareth, Lalloo, Fiona, Pichert, Gabriella, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Paterson, Joan, Hodgson, Shirley, Morrison, Patrick J, Porteous, Mary E, Walker, Lisa, Kennedy, M John, Dorkins, Huw, Peock, Susan, Godwin, Andrew K, Stoppa-Lyonnet, Dominique, de Pauw, Antoine, Mazoyer, Sylvie, Bonadona, Valérie, Lasset, Christine, Dreyfus, Hélène, Leroux, Dominique, Hardouin, Agnès, Berthet, Pascaline, Faivre, Laurence, Loustalot, Catherine, Noguchi, Tetsuro, Sobol, Hagay, Rouleau, Etienne, Nogues, Catherine, Frénay, Marc, Vénat-Bouvet, Laurence, Hopper, John L, Daly, Mary B, Terry, Mary B, John, Esther M, Buys, Saundra S, Yassin, Yosuf, Miron, Alexander, Goldgar, David, Singer, Christian F, Dressler, Anne Catharina, Gschwantler-Kaulich, Daphne, Pfeiler, Georg, Hansen, Thomas V O, Jønson, Lars, Agnarsson, Bjarni A, Kirchhoff, Tomas, Offit, Kenneth, Devlin, Vincent, Dutra-Clarke, Ana, Piedmonte, Marion, Rodriguez, Gustavo C, Wakeley, Katie, Boggess, John F, Basil, Jack, Schwartz, Peter E, Blank, Stephanie V, Toland, Amanda Ewart, Montagna, Marco, Casella, Cinzia, Imyanitov, Evgeny, Tihomirova, Laima, Blanco, Ignacio, Lazaro, Conxi, Ramus, Susan J, Sucheston, Lara, Karlan, Beth Y, Gross, Jenny, Schmutzler, Rita, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Lochmann, Magdalena, Arnold, Norbert, Heidemann, Simone, Varon-Mateeva, Raymonda, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Preisler-Adams, Sabine, Kast, Karin, Schönbuchner, Ines, Caldes, Trinidad, de la Hoya, Miguel, Aittomäki, Kristiina, Nevanlinna, Heli, Simard, Jacques, Spurdle, Amanda B, Holland, Helene, Chen, Xiaoqing, Platte, Radka, Chenevix-Trench, Georgia, Easton, Douglas F, Antoniou, Antonis C., Beesley, Jonathan, McGuffog, Lesley, Sinilnikova, Olga M., Healey, Sue, Neuhausen, Susan L., Ding, Yuan Chun, Rebbeck, Timothy R., Weitzel, Jeffrey N., Lynch, Henry T., Isaacs, Claudine, Ganz, Patricia A., Tomlinson, Gail, Olopade, Olufunmilayo I, Couch, Fergus J., Wang, Xianshu, Lindor, Noralane M., Pankratz, Vernon S, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Barile, Monica, Viel, Alessandra, Allavena, Anna, Dall'Olio, Valentina, Peterlongo, Paolo, Szabo, Csilla I, Zikan, Michal, Claes, Kathleen, Poppe, Bruce, Foretova, Lenka, Mai, Phuong L., Greene, Mark H., Rennert, Gad, Lejbkowicz, Flavio, Glendon, Gord, Ozcelik, Hilmi, Andrulis, Irene L., Thomassen, Mads, Gerdes, Anne-Marie, Sunde, Lone, Cruger, Dorthe, Birk Jensen, Uffe, Caligo, Maria, Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Dubrovsky, Maya, Cohen, Shimrit, Borg, Ake, Jernström, Helena, Lindblom, Annika, Rantala, Johanna, Stenmark-Askmalm, Marie, Melin, Beatrice, Nathanson, Kate, Domchek, Susan, Jakubowska, Ania, Lubinski, Jan, Huzarski, Tomasz, Osorio, Ana, Lasa, Adriana, Durán, Mercedes, Tejada, Maria-Isabel, Godino, Javier, Benitez, Javier, Hamann, Ute, Kriege, Mieke, Hoogerbrugge, Nicoline, van der Luijt, Rob B, van Asperen, Christi J, Devilee, Peter, Meijers-Heijboer, E J, Blok, Marinus J, Aalfs, Cora M, Hogervorst, Frans, Rookus, Matti, Cook, Margaret, Oliver, Clare, Frost, Debra, Conroy, Don, Evans, D Gareth, Lalloo, Fiona, Pichert, Gabriella, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Paterson, Joan, Hodgson, Shirley, Morrison, Patrick J, Porteous, Mary E, Walker, Lisa, Kennedy, M John, Dorkins, Huw, Peock, Susan, Godwin, Andrew K, Stoppa-Lyonnet, Dominique, de Pauw, Antoine, Mazoyer, Sylvie, Bonadona, Valérie, Lasset, Christine, Dreyfus, Hélène, Leroux, Dominique, Hardouin, Agnès, Berthet, Pascaline, Faivre, Laurence, Loustalot, Catherine, Noguchi, Tetsuro, Sobol, Hagay, Rouleau, Etienne, Nogues, Catherine, Frénay, Marc, Vénat-Bouvet, Laurence, Hopper, John L, Daly, Mary B, Terry, Mary B, John, Esther M, Buys, Saundra S, Yassin, Yosuf, Miron, Alexander, Goldgar, David, Singer, Christian F, Dressler, Anne Catharina, Gschwantler-Kaulich, Daphne, Pfeiler, Georg, Hansen, Thomas V O, Jønson, Lars, Agnarsson, Bjarni A, Kirchhoff, Tomas, Offit, Kenneth, Devlin, Vincent, Dutra-Clarke, Ana, Piedmonte, Marion, Rodriguez, Gustavo C, Wakeley, Katie, Boggess, John F, Basil, Jack, Schwartz, Peter E, Blank, Stephanie V, Toland, Amanda Ewart, Montagna, Marco, Casella, Cinzia, Imyanitov, Evgeny, Tihomirova, Laima, Blanco, Ignacio, Lazaro, Conxi, Ramus, Susan J, Sucheston, Lara, Karlan, Beth Y, Gross, Jenny, Schmutzler, Rita, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Lochmann, Magdalena, Arnold, Norbert, Heidemann, Simone, Varon-Mateeva, Raymonda, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Preisler-Adams, Sabine, Kast, Karin, Schönbuchner, Ines, Caldes, Trinidad, de la Hoya, Miguel, Aittomäki, Kristiina, Nevanlinna, Heli, Simard, Jacques, Spurdle, Amanda B, Holland, Helene, Chen, Xiaoqing, Platte, Radka, Chenevix-Trench, Georgia, and Easton, Douglas F

Abstract

The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carriers (per-allele HR = 1.10, 95% CI: 1.03-1.18, P = 0.006 and HR = 1.09, 95% CI: 1.01-1.19, P = 0.03, respectively). Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. Of the 9 polymorphisms investigated, 7 were associated with breast cancer for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, P = 7 × 10(-11) - 0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (P = 0.0049, 0.03, respectively). All risk-associated polymorphisms appear to interact multiplicatively on breast cancer risk for mutation carriers. Based on the joint genotype distribution of the 7 risk-associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e., between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing breast cancer by age 80, compared with 42% to 50% for the 5% of carriers at lowest risk. Our findings indicated that these risk differences might be sufficient to influence the clinical management of mutation carriers., SWE-BRCA collaborators: Hans Ehrencrona, Richard Rosenquist Brandell and Niklas Dahl, Institutionen för genetik och patologi, Department of Genetics and Pathology, Uppsala University Hospital

Published
2010
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11. Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene

Author

Degrolard-Courcet, Emilie, primary, Sokolowska, Joanna, additional, Padeano, Marie-Martine, additional, Guiu, Séverine, additional, Bronner, Myriam, additional, Chery, Carole, additional, Coron, Fanny, additional, Lepage, Côme, additional, Chapusot, Caroline, additional, Loustalot, Catherine, additional, Jouve, Jean-Louis, additional, Hatem, Cyril, additional, Ferrant, Emmanuelle, additional, Martin, Laurent, additional, Coutant, Charles, additional, Baurand, Amandine, additional, Couillault, Gérard, additional, Delignette, Alexandra, additional, El Chehadeh, Salima, additional, Lizard, Sarab, additional, Arnould, Laurent, additional, Fumoleau, Pierre, additional, Callier, Patrick, additional, Mugneret, Francine, additional, Philippe, Christophe, additional, Frebourg, Thierry, additional, Jonveaux, Philippe, additional, and Faivre, Laurence, additional

Published
2013
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12. Time to Deterioration in Quality of Life Score as a Modality of Longitudinal Analysis in Patients with Breast Cancer

Author

Hamidou, Zeinab, primary, Dabakuyo, Tienhan S., additional, Mercier, Mariette, additional, Fraisse, Jean, additional, Causeret, Sylvain, additional, Tixier, Hervé, additional, Padeano, Marie-Martine, additional, Loustalot, Catherine, additional, Cuisenier, Jean, additional, Sauzedde, Jean-Marc, additional, Smail, Marc, additional, Combier, Jean-Philibert, additional, Chevillote, Patrick, additional, Rosburger, Christian, additional, Arveux, Patrick, additional, and Bonnetain, Franck, additional

Published
2011
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13. Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Author

Antoniou, Antonis C., primary, Beesley, Jonathan, additional, McGuffog, Lesley, additional, Sinilnikova, Olga M., additional, Healey, Sue, additional, Neuhausen, Susan L., additional, Ding, Yuan Chun, additional, Rebbeck, Timothy R., additional, Weitzel, Jeffrey N., additional, Lynch, Henry T., additional, Isaacs, Claudine, additional, Ganz, Patricia A., additional, Tomlinson, Gail, additional, Olopade, Olufunmilayo I., additional, Couch, Fergus J., additional, Wang, Xianshu, additional, Lindor, Noralane M., additional, Pankratz, Vernon S., additional, Radice, Paolo, additional, Manoukian, Siranoush, additional, Peissel, Bernard, additional, Zaffaroni, Daniela, additional, Barile, Monica, additional, Viel, Alessandra, additional, Allavena, Anna, additional, Dall'Olio, Valentina, additional, Peterlongo, Paolo, additional, Szabo, Csilla I., additional, Zikan, Michal, additional, Claes, Kathleen, additional, Poppe, Bruce, additional, Foretova, Lenka, additional, Mai, Phuong L., additional, Greene, Mark H., additional, Rennert, Gad, additional, Lejbkowicz, Flavio, additional, Glendon, Gord, additional, Ozcelik, Hilmi, additional, Andrulis, Irene L., additional, Thomassen, Mads, additional, Gerdes, Anne-Marie, additional, Sunde, Lone, additional, Cruger, Dorthe, additional, Birk Jensen, Uffe, additional, Caligo, Maria, additional, Friedman, Eitan, additional, Kaufman, Bella, additional, Laitman, Yael, additional, Milgrom, Roni, additional, Dubrovsky, Maya, additional, Cohen, Shimrit, additional, Borg, Ake, additional, Jernström, Helena, additional, Lindblom, Annika, additional, Rantala, Johanna, additional, Stenmark-Askmalm, Marie, additional, Melin, Beatrice, additional, Nathanson, Kate, additional, Domchek, Susan, additional, Jakubowska, Ania, additional, Lubinski, Jan, additional, Huzarski, Tomasz, additional, Osorio, Ana, additional, Lasa, Adriana, additional, Durán, Mercedes, additional, Tejada, Maria-Isabel, additional, Godino, Javier, additional, Benitez, Javier, additional, Hamann, Ute, additional, Kriege, Mieke, additional, Hoogerbrugge, Nicoline, additional, van der Luijt, Rob B., additional, Asperen, Christi J. van, additional, Devilee, Peter, additional, Meijers-Heijboer, E.J., additional, Blok, Marinus J., additional, Aalfs, Cora M., additional, Hogervorst, Frans, additional, Rookus, Matti, additional, Cook, Margaret, additional, Oliver, Clare, additional, Frost, Debra, additional, Conroy, Don, additional, Evans, D. Gareth, additional, Lalloo, Fiona, additional, Pichert, Gabriella, additional, Davidson, Rosemarie, additional, Cole, Trevor, additional, Cook, Jackie, additional, Paterson, Joan, additional, Hodgson, Shirley, additional, Morrison, Patrick J., additional, Porteous, Mary E., additional, Walker, Lisa, additional, Kennedy, M. John, additional, Dorkins, Huw, additional, Peock, Susan, additional, Godwin, Andrew K., additional, Stoppa-Lyonnet, Dominique, additional, de Pauw, Antoine, additional, Mazoyer, Sylvie, additional, Bonadona, Valérie, additional, Lasset, Christine, additional, Dreyfus, Hélène, additional, Leroux, Dominique, additional, Hardouin, Agnès, additional, Berthet, Pascaline, additional, Faivre, Laurence, additional, Loustalot, Catherine, additional, Noguchi, Tetsuro, additional, Sobol, Hagay, additional, Rouleau, Etienne, additional, Nogues, Catherine, additional, Frénay, Marc, additional, Vénat-Bouvet, Laurence, additional, Hopper, John L., additional, Daly, Mary B., additional, Terry, Mary B., additional, John, Esther M., additional, Buys, Saundra S., additional, Yassin, Yosuf, additional, Miron, Alexander, additional, Goldgar, David, additional, Singer, Christian F., additional, Dressler, Anne Catharina, additional, Gschwantler-Kaulich, Daphne, additional, Pfeiler, Georg, additional, Hansen, Thomas V.O., additional, Jønson, Lars, additional, Agnarsson, Bjarni A., additional, Kirchhoff, Tomas, additional, Offit, Kenneth, additional, Devlin, Vincent, additional, Dutra-Clarke, Ana, additional, Piedmonte, Marion, additional, Rodriguez, Gustavo C., additional, Wakeley, Katie, additional, Boggess, John F., additional, Basil, Jack, additional, Schwartz, Peter E., additional, Blank, Stephanie V., additional, Toland, Amanda Ewart, additional, Montagna, Marco, additional, Casella, Cinzia, additional, Imyanitov, Evgeny, additional, Tihomirova, Laima, additional, Blanco, Ignacio, additional, Lazaro, Conxi, additional, Ramus, Susan J., additional, Sucheston, Lara, additional, Karlan, Beth Y., additional, Gross, Jenny, additional, Schmutzler, Rita, additional, Wappenschmidt, Barbara, additional, Engel, Christoph, additional, Meindl, Alfons, additional, Lochmann, Magdalena, additional, Arnold, Norbert, additional, Heidemann, Simone, additional, Varon-Mateeva, Raymonda, additional, Niederacher, Dieter, additional, Sutter, Christian, additional, Deissler, Helmut, additional, Gadzicki, Dorothea, additional, Preisler-Adams, Sabine, additional, Kast, Karin, additional, Schönbuchner, Ines, additional, Caldes, Trinidad, additional, de la Hoya, Miguel, additional, Aittomäki, Kristiina, additional, Nevanlinna, Heli, additional, Simard, Jacques, additional, Spurdle, Amanda B., additional, Holland, Helene, additional, Chen, Xiaoqing, additional, Platte, Radka, additional, Chenevix-Trench, Georgia, additional, and Easton, Douglas F., additional

Published
2010
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17. Pathologic Complete Response to Trastuzumab-Based Neoadjuvant Therapy Is Related to the Level of HER-2 Amplification

Author

Arnould, Laurent, primary, Arveux, Patrick, additional, Couturier, Jerome, additional, Gelly-Marty, Marion, additional, Loustalot, Catherine, additional, Ettore, Francette, additional, Sagan, Christine, additional, Antoine, Martine, additional, Penault-Llorca, Frederique, additional, Vasseur, Berangere, additional, Fumoleau, Pierre, additional, and Coudert, Bruno P., additional

Published
2007
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18. Is the beta3-adrenoceptor (ADRB3) a potential target for uterorelaxant drugs?

Author

Bardou, Marc, primary, Rouget, Céline, additional, Breuiller-Fouché, Michèle, additional, Loustalot, Catherine, additional, Naline, Emmanuel, additional, Sagot, Paul, additional, Frydman, René, additional, Morcillo, Esteban J, additional, Advenier, Charles, additional, Leroy, Marie-Josèphe, additional, and Morrison, John J, additional

Published
2007
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19. Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.

Author

Degrolard-Courcet, Emilie, Sokolowska, Joanna, Padeano, Marie-Martine, Guiu, Séverine, Bronner, Myriam, Chery, Carole, Coron, Fanny, Lepage, Côme, Chapusot, Caroline, Loustalot, Catherine, Jouve, Jean-Louis, Hatem, Cyril, Ferrant, Emmanuelle, Martin, Laurent, Coutant, Charles, Baurand, Amandine, Couillault, Gérard, Delignette, Alexandra, El Chehadeh, Salima, and Lizard, Sarab

Subjects
COLON cancer, ANEMIA, GENETIC mutation, BRCA genes, TUMOR suppressor genes
Abstract

Fanconi anaemia (FA) is characterized by progressive bone marrow failure, congenital anomalies, and predisposition to malignancy. In a minority of cases, FA results from biallelic FANCD1/BRCA2 mutations that are associated with early-onset leukaemia and solid tumours. Here, we describe the clinical and molecular features of a remarkable family presenting with multiple primary colorectal cancers (CRCs) without detectable mutations in genes involved in the Mendelian predisposition to CRCs. We unexpectedly identified, despite the absence of clinical cardinal features of FA, a biallelic mutation of the FANCD1/BRCA2 corresponding to a frameshift alteration (c.1845_1846delCT, p.Asn615Lysfs*6) and a missense mutation (c.7802A>G, p.Tyr2601Cys). The diagnosis of FA was confirmed by the chromosomal analysis of lymphocytes. Reverse transcriptase (RT)-PCR analysis revealed that the c.7802A>G BRCA2 variation was in fact a splicing mutation that creates an aberrant splicing donor site and results partly into an aberrant transcript encoding a truncated protein (p.Tyr2601Trpfs*46). The atypical FA phenotype observed within this family was probably explained by the residual amount of BRCA2 with the point mutation c.7802A>G in the patients harbouring the biallelic FANCD1/BRCA2 mutations. Although this report is based in a single family, it suggests that CRCs may be part of the tumour spectrum associated with FANCD1/BRCA2 biallelic mutations and that the presence of such mutations should be considered in families with CRCs, even in the absence of cardinal features of FA. [ABSTRACT FROM AUTHOR]

Published
2014
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20. The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?

Author

Eliade M, Skrzypski J, Baurand A, Jacquot C, Bertolone G, Loustalot C, Coutant C, Guy F, Fumoleau P, Duffourd Y, Arnould L, Delignette A, Padéano MM, Lepage C, Raichon-Patru G, Boudrant A, Bône-Lépinoy MC, Villing AL, Charpin A, Peignaux K, Chevrier S, Vegran F, Ghiringhelli F, Boidot R, Sevenet N, Lizard S, and Faivre L

Subjects
Adult, Aged, Aged, 80 and over, Cohort Studies, Evidence-Based Practice, Female, France epidemiology, Gene Expression Regulation, Neoplastic, Gene Frequency, Genetic Predisposition to Disease, Hereditary Breast and Ovarian Cancer Syndrome genetics, High-Throughput Nucleotide Sequencing, Humans, Male, Middle Aged, Pedigree, Physician-Patient Relations, Practice Guidelines as Topic standards, Professional-Family Relations, Biomarkers, Tumor genetics, Genetic Testing methods, Genetic Testing standards, Genetic Testing statistics & numerical data, Hereditary Breast and Ovarian Cancer Syndrome diagnosis, Practice Patterns, Physicians' standards, Practice Patterns, Physicians' statistics & numerical data, Transcriptome, Translational Research, Biomedical standards, Translational Research, Biomedical statistics & numerical data
Abstract

Until recently, the molecular diagnosis of hereditary breast and ovarian cancer (HBOC) was mostly based on BRCA1/2 testing. Next generation sequencing and the recent discovery of new genes involved in HBOC now permit the transfer of genomic capture targeting multiple candidate genes from research to clinical use. However, the implications for the management of patients and their families have not been extensively studied, in particular since some of these genes are not well-established cancer predisposing genes. We studied 583 consecutive patients from Burgundy (France) fulfilling the criteria for BRCA testing using a next generation sequencing 25-genes panel including 20 well-established high-risk cancer genes as well as more recently identified predisposing HBOC cancer. A pathogenic BRCA1/2 mutation was found in 51 patients (9%). Besides, we found 37 pathogenic or likely pathogenic mutations in 10 different high to low-risk genes in 34 patients (6%). The most frequently mutated genes were CHEK2 (n = 12; 2%), ATM (n = 9; 1.5%), and PALB2 (n = 4; 0.6%). Three patients had a mutation in two different predisposing genes. The analysis of clinical actionability conducted in mutation-positive individuals revealed that additional disease-specific screening and/or prevention measures beyond those based on personal and family history alone had been recommended in 69% of cases. In conclusion, multigene panel testing is a powerful tool to identifying high to low-risk HBOC susceptibility genes. The penetrance and spectrum of cancers with these other genes are sometimes undefined, and further collaborative work is crucial to address this question.

Published
2017
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