317 results on '"Noguès, Catherine"'
Search Results
2. Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease
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Jiao, Yue, Truong, Thérèse, Eon-Marchais, Séverine, Mebirouk, Noura, Caputo, Sandrine M., Dondon, Marie-Gabrielle, Karimi, Mojgan, Le Gal, Dorothée, Beauvallet, Juana, Le Floch, Édith, Dandine-Roulland, Claire, Bacq-Daian, Delphine, Olaso, Robert, Albuisson, Juliette, Audebert-Bellanger, Séverine, Berthet, Pascaline, Bonadona, Valérie, Buecher, Bruno, Caron, Olivier, Cavaillé, Mathias, Chiesa, Jean, Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Coupier, Isabelle, Delnatte, Capucine, De Pauw, Antoine, Dreyfus, Hélène, Fert-Ferrer, Sandra, Gauthier-Villars, Marion, Gesta, Paul, Giraud, Sophie, Gladieff, Laurence, Golmard, Lisa, Lasset, Christine, Lejeune-Dumoulin, Sophie, Léoné, Mélanie, Limacher, Jean-Marc, Lortholary, Alain, Luporsi, Élisabeth, Mari, Véronique, Maugard, Christine M., Mortemousque, Isabelle, Mouret-Fourme, Emmanuelle, Nambot, Sophie, Noguès, Catherine, Popovici, Cornel, Prieur, Fabienne, Pujol, Pascal, Sevenet, Nicolas, Sobol, Hagay, Toulas, Christine, Uhrhammer, Nancy, Vaur, Dominique, Venat, Laurence, Boland-Augé, Anne, Guénel, Pascal, Deleuze, Jean-François, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, and Lesueur, Fabienne
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- 2023
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3. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
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Win, Aung Ko, Dowty, James G., Reece, Jeanette C., Lee, Grant, Templeton, Allyson S., Plazzer, John-Paul, Buchanan, Daniel D., Akagi, Kiwamu, Aksoy, Seçil, Alonso, Angel, Alvarez, Karin, Amor, David J., Ankathil, Ravindran, Aretz, Stefan, Arnold, Julie L., Aronson, Melyssa, Austin, Rachel, Backman, Ann-Sofie, Bajwa-ten Broeke, Sanne W., Barca-Tierno, Verónica, Barwell, Julian, Bernstein, Inge, Berthet, Pascaline, Betz, Beate, Bignon, Yves-Jean, Boisjoli, Talya, Bonadona, Valérie, Briollais, Laurent, Brunet, Joan, Bucksch, Karolin, Buecher, Bruno, Buettner, Reinhard, Burn, John, Caldés, Trinidad, Capella, Gabriel, Caron, Olivier, Casey, Graham, Chew, Min H., Choi, Yun-hee, Church, James, Clendenning, Mark, Colas, Chrystelle, Cops, Elisa J., Coupier, Isabelle, Cruz-Correa, Marcia, de la Chapelle, Albert, de Wind, Niels, Dębniak, Tadeusz, Della Valle, Adriana, Delnatte, Capuccine, Dhooge, Marion, Dominguez-Valentin, Mev, Drouet, Youenn, Duijkers, Floor A., Engel, Christoph, Esperon, Patricia, Evans, D. Gareth, Falcón de Vargas, Aída, Figueiredo, Jane C, Foulkes, William, Fourme, Emmanuelle, Frebourg, Thierry, Gallinger, Steven, Garre, Pilar, Genuardi, Maurizio, Gerdes, Anne-Marie, Gima, Lauren M., Giraud, Sophie, Goodwin, Annabel, Görgens, Heike, Green, Kate, Guillem, Jose, Guillén-Ponce, Carmen, Guimbaud, Roselyne, Guindalini, Rodrigo S.C., Half, Elizabeth E., Hall, Michael J, Hampel, Heather, Hansen, Thomas V.O., Heinimann, Karl, Hes, Frederik J., Hill, James, Ho, Judy W.C., Holinski-Feder, Elke, Hoogerbrugge, Nicoline, Hüneburg, Robert, Huntley, Vanessa, James, Paul A., Jensen, Uffe B, John, Thomas, Juhari, Wan K.W., Kalady, Matthew, Kastrinos, Fay, Kloor, Matthias, Kohonen-Corish, Maija RJ, Krogh, Lotte N., Kupfer, Sonia S., Ladabaum, Uri, Lagerstedt-Robinson, Kristina, Lalloo, Fiona, Lasset, Christine, Latchford, Andrew, Laurent-Puig, Pierre, Lautrup, Charlotte K., Leggett, Barbara A., Lejeune, Sophie, LeMarchand, Loic, Ligtenberg, Marjolijn, Lindor, Noralane, Loeffler, Markus, Longy, Michel, Lopez, Francisco, Lowery, Jan, Lubiński, Jan, Lucassen, Anneke M, Lynch, Patrick M., Malińska, Karolina, Matsubara, Nagahide, Mecklin, Jukka-Pekka, Møller, Pål, Monahan, Kevin, Morrison, Patrick J., Nattermann, Jacob, Navarro, Matilde, Neffa, Florencia, Neklason, Deborah, Newcomb, Polly A., Ngeow, Joanne, Nichols, Cassandra, Nielsen, Maartje, Nixon, Dawn M., Nogues, Catherine, Okkels, Henrik, Olschwang, Sylviane, Pachter, Nicholas, Pai, Rish K., Palmero, Edenir I., Pande, Mala, Parry, Susan, Patel, Swati G., Pearlman, Rachel, Perne, Claudia, Pineda, Marta, Poplawski, Nicola K, Pylvänäinen, Kirsi, Qiu, Jay, Rahner, Nils, Ramesar, Raj, Rasmussen, Lene J., Redler, Silke, Reis, Rui M., Ricciardiello, Luigi, Rogoża-Janiszewska, Emilia, Rosty, Christophe, Samadder, N. Jewel, Sampson, Julian R., Schackert, Hans K., Schmiegel, Wolff, Schulmann, Karsten, Schuster, Helène, Scott, Rodney, Senter, Leigha, Seppälä, Toni T, Shtoyerman, Rakefet, Sijmons, Rolf H., Snyder, Carrie, Solomon, Ilana B., Soto, Jose Luis, Southey, Melissa C., Spigelman, Allan, Spirandelli, Florencia, Spurdle, Amanda B., Steinke-Lange, Verena, Stoffel, Elena M., Strassburg, Christian P., Sunde, Lone, Susman, Rachel, Syngal, Sapna, Tanakaya, Kohji, Tezcan, Gülçin, Therkildsen, Christina, Thibodeau, Steve, Tomita, Naohiro, Tucker, Katherine M., Tunca, Berrin, Turchetti, Daniela, Uhrhammer, Nancy, Utsunomiya, Joji, Vaccaro, Carlos, van Duijnhoven, Fränzel J.B., van Wanzeele, Meghan J., Vangala, Deepak B., Vasen, Hans F.A., von Knebel Doeberitz, Magnus, von Salomé, Jenny, Wadt, Karin A.W., Ward, Robyn L., Weitz, Jürgen, Weitzel, Jeffrey N., Williams, Heinric, Winship, Ingrid, Wise, Paul E., Wods, Julie, Woods, Michael O., Yamaguchi, Tatsuro, Zachariae, Silke, Zahary, Mohd N., Hopper, John L., Haile, Robert W., Macrae, Finlay A., Möslein, Gabriela, and Jenkins, Mark A.
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- 2021
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4. National recommendations of the French Genetics and Cancer Group - Unicancer on the modalities of multi-genes panel analyses in hereditary predispositions to tumors of the digestive tract
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Dhooge, Marion, Baert-Desurmont, Stéphanie, Corsini, Carole, Caron, Olivier, Andrieu, Nadine, Berthet, Pascaline, Bonadona, Valérie, Cohen-Haguenauer, Odile, De Pauw, Antoine, Delnatte, Capucine, Dussart, Sophie, Lasset, Christine, Leroux, Dominique, Maugard, Christine, Moretta-Serra, Jessica, Popovici, Cornel, Buecher, Bruno, Colas, Chrystelle, and Noguès, Catherine
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- 2020
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5. TP53-associated early breast cancer: new observations from a large cohort.
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Sandoval, Renata L, Bottosso, Michele, Tianyu, Li, Polidorio, Natalia, Bychkovsky, Brittany L, Verret, Benjamin, Gennari, Alessandra, Cahill, Sophie, Achatz, Maria Isabel, Caron, Olivier, Imbert-Bouteille, Marion, Noguès, Catherine, Mawell, Kara N, Fortuno, Cristina, Spurdle, Amanda B, Tayob, Nabihah, Andre, Fabrice, and Garber, Judy E
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BREAST cancer surgery ,HER2 positive breast cancer ,BREAST cancer ,LI-Fraumeni syndrome ,HORMONE receptors ,HORMONE receptor positive breast cancer - Abstract
Background A recent large, well-annotated international cohort of patients with Li-Fraumeni syndrome and early-stage breast cancer was examined for shared features. Methods This multicenter cohort study included women with a germline TP53 pathogenic or likely pathogenic variant and nonmetastatic breast cancer diagnosed between 2002 and 2022. Clinical and genetic data were obtained from institutional registries and clinical charts. Descriptive statistics were used to summarize proportions, and differences were assessed using χ
2 or Wilcoxon rank sum tests. Metachronous contralateral breast cancer risk, radiation-induced sarcoma risk, and recurrence-free survival were analyzed using the Kaplan-Meier methodology. Results Among 227 women who met study criteria, the median age of first breast cancer diagnosis was 37 years (range = 21-71), 11.9% presented with bilateral synchronous breast cancer, and 18.1% had ductal carcinoma in situ only. In total, 166 (73.1%) patients underwent mastectomies, including 67 bilateral mastectomies as first breast cancer surgery. Among those patients with retained breast tissue, the contralateral breast cancer rate was 25.3% at 5 years. Among 186 invasive tumors, 72.1% were stages I to II, 48.9% were node negative, and the most common subtypes were hormone receptor-positive/HER2-negative (40.9%) and hormone receptor positive/HER2 positive (34.4%). At a median follow-up of 69.9 months (interquartile range = 32.6-125.9), invasive hormone receptor–positive/HER2-negative disease had the highest recurrence risk among the subtypes (5-year recurrence-free survival = 61.1%, P = .001). Among those who received radiation therapy (n = 79), the 5-year radiation-induced sarcoma rate was 4.8%. Conclusion We observed high rates of ductal carcinoma in situ, hormone receptor–positive, and HER2-positive breast cancers, with a worse outcome in the hormone receptor–positive/HER2-negative luminal tumors, despite appropriate treatment. Confirmation of these findings in further studies could have implications for breast cancer care in those with Li-Fraumeni syndrome. [ABSTRACT FROM AUTHOR]- Published
- 2024
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6. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
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Barnes, Daniel R., Rookus, Matti A., McGuffog, Lesley, Leslie, Goska, Mooij, Thea M., Dennis, Joe, Mavaddat, Nasim, Adlard, Julian, Ahmed, Munaza, Aittomäki, Kristiina, Andrieu, Nadine, Andrulis, Irene L., Arnold, Norbert, Arun, Banu K., Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Białkowska, Katarzyna, Blanco, Amie M., Blok, Marinus J., Bonanni, Bernardo, Boonen, Susanne E., Borg, Åke, Bozsik, Aniko, Bradbury, Angela R., Brennan, Paul, Brewer, Carole, Brunet, Joan, Buys, Saundra S., Caldés, Trinidad, Caligo, Maria A., Campbell, Ian, Christensen, Lise Lotte, Chung, Wendy K., Claes, Kathleen B.M., Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Delnatte, Capucine, Faivre, Laurence, Giraud, Sophie, Lasset, Christine, Mari, Véronique, Mebirouk, Noura, Mouret-Fourme, Emmanuelle, Schuster, Hélène, Stoppa-Lyonnet, Dominique, Antoniou, Antonis, Cook, Jackie, Davidson, Rosemarie, Easton, Douglas, Eeles, Ros, Evans, D. Gareth, Frost, Debra, Hanson, Helen, Izatt, Louise, Ong, Kai-ren, Side, Lucy, O’Shaughnessy-Kirwan, Aoife, Tischkowitz, Marc, Walker, Lisa, Daly, Mary B., de la Hoya, Miguel, de Putter, Robin, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Dorfling, Cecilia M., Dumont, Martine, Ejlertsen, Bent, Engel, Christoph, Foretova, Lenka, Fostira, Florentia, Friedlander, Michael, Friedman, Eitan, Ganz, Patricia A., Garber, Judy, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., González-Neira, Anna, Greene, Mark H., Gschwantler-Kaulich, Daphne, Hahnen, Eric, Hamann, Ute, Hentschel, Julia, Hogervorst, Frans B.L., Hooning, Maartje J., Horvath, Judit, Hu, Chunling, Hulick, Peter J., Imyanitov, Evgeny N., Chenevix-Trench, Georgia, Phillips, Kelly-Anne, Spurdle, Amanda, Blok, Marinus, Hogervorst, Frans, Hooning, Maartje, Koudijs, Marco, Mensenkamp, Arjen, Meijers-Heijboer, Hanne, Rookus, Matti, Engelen, Klaartje van, Noguès, Catherine, Isaacs, Claudine, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kast, Karin, Kruse, Torben A., Kwong, Ava, Laitman, Yael, Lazaro, Conxi, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loud, Jennifer T., Lubiński, Jan, Mai, Phuong L., Manoukian, Siranoush, Meijers-Heijboer, Hanne E.J., Meindl, Alfons, Mensenkamp, Arjen R., Miller, Austin, Montagna, Marco, Mukherjee, Semanti, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn Cilius, Nikitina-Zake, Liene, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Ott, Claus-Eric, Papi, Laura, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Peterlongo, Paolo, Pfeiler, Georg, Prajzendanc, Karolina, Pujana, Miquel Angel, Radice, Paolo, Ramser, Juliane, Ramus, Susan J., Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Robson, Mark, Rønlund, Karina, Salani, Ritu, Senter, Leigha, Shah, Payal D., Sharma, Priyanka, Side, Lucy E., Singer, Christian F., Slavin, Thomas P., Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Steinemann, Doris, Steinsnyder, Zoe, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thull, Darcy L., Tognazzo, Silvia, Toland, Amanda E., Trainer, Alison H., Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Vega, Ana, Vierstraete, Jeroen, Wagner, Gabriel, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Yadav, Siddhartha, Yang, Xin, Yannoukakos, Drakoulis, Zimbalatti, Dario, Offit, Kenneth, Thomassen, Mads, Couch, Fergus J., Schmutzler, Rita K., Simard, Jacques, Easton, Douglas F., and Antoniou, Antonis C.
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- 2020
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7. Inhibiteurs de PARP dans les cancers du sein : développement clinique actuel et perspectives
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Robbe, Julie, Moretta, Jessica, Vicier, Cécile, Sabatier, Renaud, Noguès, Catherine, and Gonçalves, Anthony
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- 2020
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8. Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation
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Ribeiro Guerra, Maximiliano, Coignard, Juliette, Eon-Marchais, Séverine, Dondon, Marie-Gabrielle, Le Gal, Dorothée, Beauvallet, Juana, Mebirouk, Noura, Belotti, Muriel, Caron, Olivier, Gauthier-Villars, Marion, Coupier, Isabelle, Buecher, Bruno, Lortholary, Alain, Fricker, Jean-Pierre, Gesta, Paul, Noguès, Catherine, Faivre, Laurence, Berthet, Pascaline, Luporsi, Elisabeth, Delnatte, Capucine, Bonadona, Valérie, Maugard, Christine M., Pujol, Pascal, Lasset, Christine, Longy, Michel, Bignon, Yves-Jean, Adenis-Lavignasse, Claude, Venat-Bouvet, Laurence, Dreyfus, Hélène, Gladieff, Laurence, Mortemousque, Isabelle, Audebert-Bellanger, Séverine, Soubrier, Florent, Giraud, Sophie, Lejeune-Dumoulin, Sophie, Limacher, Jean-Marc, Chiesa, Jean, Fajac, Anne, Floquet, Anne, Eisinger, François, Tinat, Julie, Fert-Ferrer, Sandra, Colas, Chrystelle, Frebourg, Thierry, Damiola, Francesca, Barjhoux, Laure, Cavaciuti, Eve, Mazoyer, Sylvie, Tardivon, Anne, Lesueur, Fabienne, Stoppa-Lyonnet, Dominique, and Andrieu, Nadine
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- 2021
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9. A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers
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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, and Caputo, Sandrine M.
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- 2021
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10. Les femmes à haut risque de cancer du sein : quelle attitude ?
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Livon, Doriane, Moretta, Jessica, and Noguès, Catherine
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- 2019
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11. Genetics of Ovarian Carcinomas
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Sénéchal, Claire, Buecher, Bruno, de Pauw, Antoine, Houdayer, Claude, Rouleau, Etienne, Noguès, Catherine, Stoppa-Lyonnet, Dominique, Pujade-Lauraine, Eric, editor, Ray-Coquard, Isabelle, editor, and Lécuru, Fabrice, editor
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- 2017
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12. How Can Contingent Valuation Inform the Bioethics Debate? Evidence from a Survey on Hereditary Cancers in France
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GENEPSO cohort investigators, Protière, Christel, Chanel, Olivier, Nogues, Catherine, Coupier, Isabelle, Mouret-Fourme, Emmanuelle, and Julian-Reynier, Claire
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- 2017
13. Effect on perceived control and psychological distress of genetic knowledge in women with breast cancer receiving a BRCA1/2 test result
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Brédart, Anne, Kop, Jean-Luc, De Pauw, Antoine, Caron, Olivier, Fajac, Anne, Noguès, Catherine, Stoppa-Lyonnet, Dominique, and Dolbeault, Sylvie
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- 2017
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14. Supplementary Figure 4. (A-D) from Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk
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Petitalot, Ambre, primary, Dardillac, Elodie, primary, Jacquet, Eric, primary, Nhiri, Naima, primary, Guirouilh-Barbat, Josée, primary, Julien, Patrick, primary, Bouazzaoui, Isslam, primary, Bonte, Dorine, primary, Feunteun, Jean, primary, Schnell, Jeff A., primary, Lafitte, Philippe, primary, Aude, Jean-Christophe, primary, Noguès, Catherine, primary, Rouleau, Etienne, primary, Lidereau, Rosette, primary, Lopez, Bernard S., primary, Zinn-Justin, Sophie, primary, and Caputo, Sandrine M., primary
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- 2023
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15. Data from Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk
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Petitalot, Ambre, primary, Dardillac, Elodie, primary, Jacquet, Eric, primary, Nhiri, Naima, primary, Guirouilh-Barbat, Josée, primary, Julien, Patrick, primary, Bouazzaoui, Isslam, primary, Bonte, Dorine, primary, Feunteun, Jean, primary, Schnell, Jeff A., primary, Lafitte, Philippe, primary, Aude, Jean-Christophe, primary, Noguès, Catherine, primary, Rouleau, Etienne, primary, Lidereau, Rosette, primary, Lopez, Bernard S., primary, Zinn-Justin, Sophie, primary, and Caputo, Sandrine M., primary
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- 2023
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16. Supplementary Figure 6. (A) from Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk
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Petitalot, Ambre, primary, Dardillac, Elodie, primary, Jacquet, Eric, primary, Nhiri, Naima, primary, Guirouilh-Barbat, Josée, primary, Julien, Patrick, primary, Bouazzaoui, Isslam, primary, Bonte, Dorine, primary, Feunteun, Jean, primary, Schnell, Jeff A., primary, Lafitte, Philippe, primary, Aude, Jean-Christophe, primary, Noguès, Catherine, primary, Rouleau, Etienne, primary, Lidereau, Rosette, primary, Lopez, Bernard S., primary, Zinn-Justin, Sophie, primary, and Caputo, Sandrine M., primary
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- 2023
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17. Supp tables from Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk
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Petitalot, Ambre, primary, Dardillac, Elodie, primary, Jacquet, Eric, primary, Nhiri, Naima, primary, Guirouilh-Barbat, Josée, primary, Julien, Patrick, primary, Bouazzaoui, Isslam, primary, Bonte, Dorine, primary, Feunteun, Jean, primary, Schnell, Jeff A., primary, Lafitte, Philippe, primary, Aude, Jean-Christophe, primary, Noguès, Catherine, primary, Rouleau, Etienne, primary, Lidereau, Rosette, primary, Lopez, Bernard S., primary, Zinn-Justin, Sophie, primary, and Caputo, Sandrine M., primary
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- 2023
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18. Supplementary Figure 1 (B). from Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk
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Petitalot, Ambre, primary, Dardillac, Elodie, primary, Jacquet, Eric, primary, Nhiri, Naima, primary, Guirouilh-Barbat, Josée, primary, Julien, Patrick, primary, Bouazzaoui, Isslam, primary, Bonte, Dorine, primary, Feunteun, Jean, primary, Schnell, Jeff A., primary, Lafitte, Philippe, primary, Aude, Jean-Christophe, primary, Noguès, Catherine, primary, Rouleau, Etienne, primary, Lidereau, Rosette, primary, Lopez, Bernard S., primary, Zinn-Justin, Sophie, primary, and Caputo, Sandrine M., primary
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- 2023
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19. Supplementary Figure 6. (B-C) from Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk
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Petitalot, Ambre, primary, Dardillac, Elodie, primary, Jacquet, Eric, primary, Nhiri, Naima, primary, Guirouilh-Barbat, Josée, primary, Julien, Patrick, primary, Bouazzaoui, Isslam, primary, Bonte, Dorine, primary, Feunteun, Jean, primary, Schnell, Jeff A., primary, Lafitte, Philippe, primary, Aude, Jean-Christophe, primary, Noguès, Catherine, primary, Rouleau, Etienne, primary, Lidereau, Rosette, primary, Lopez, Bernard S., primary, Zinn-Justin, Sophie, primary, and Caputo, Sandrine M., primary
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- 2023
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20. Supplementary Figure 2. Classification of the VUS as a function of the impact of the corresponding missense variations on BRCT domain expression in E. coli. from Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk
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Petitalot, Ambre, primary, Dardillac, Elodie, primary, Jacquet, Eric, primary, Nhiri, Naima, primary, Guirouilh-Barbat, Josée, primary, Julien, Patrick, primary, Bouazzaoui, Isslam, primary, Bonte, Dorine, primary, Feunteun, Jean, primary, Schnell, Jeff A., primary, Lafitte, Philippe, primary, Aude, Jean-Christophe, primary, Noguès, Catherine, primary, Rouleau, Etienne, primary, Lidereau, Rosette, primary, Lopez, Bernard S., primary, Zinn-Justin, Sophie, primary, and Caputo, Sandrine M., primary
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- 2023
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21. Supplementary Figure 3. Classification of the 42 purified mutated BRCT domains as a function of their thermostability as measured using a high throughput fluorescence assay. from Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk
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Petitalot, Ambre, primary, Dardillac, Elodie, primary, Jacquet, Eric, primary, Nhiri, Naima, primary, Guirouilh-Barbat, Josée, primary, Julien, Patrick, primary, Bouazzaoui, Isslam, primary, Bonte, Dorine, primary, Feunteun, Jean, primary, Schnell, Jeff A., primary, Lafitte, Philippe, primary, Aude, Jean-Christophe, primary, Noguès, Catherine, primary, Rouleau, Etienne, primary, Lidereau, Rosette, primary, Lopez, Bernard S., primary, Zinn-Justin, Sophie, primary, and Caputo, Sandrine M., primary
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- 2023
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22. Supplementary Figure 5. (A-B) from Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk
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Petitalot, Ambre, primary, Dardillac, Elodie, primary, Jacquet, Eric, primary, Nhiri, Naima, primary, Guirouilh-Barbat, Josée, primary, Julien, Patrick, primary, Bouazzaoui, Isslam, primary, Bonte, Dorine, primary, Feunteun, Jean, primary, Schnell, Jeff A., primary, Lafitte, Philippe, primary, Aude, Jean-Christophe, primary, Noguès, Catherine, primary, Rouleau, Etienne, primary, Lidereau, Rosette, primary, Lopez, Bernard S., primary, Zinn-Justin, Sophie, primary, and Caputo, Sandrine M., primary
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- 2023
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23. Supplementary Figure 1 (A). from Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk
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Petitalot, Ambre, primary, Dardillac, Elodie, primary, Jacquet, Eric, primary, Nhiri, Naima, primary, Guirouilh-Barbat, Josée, primary, Julien, Patrick, primary, Bouazzaoui, Isslam, primary, Bonte, Dorine, primary, Feunteun, Jean, primary, Schnell, Jeff A., primary, Lafitte, Philippe, primary, Aude, Jean-Christophe, primary, Noguès, Catherine, primary, Rouleau, Etienne, primary, Lidereau, Rosette, primary, Lopez, Bernard S., primary, Zinn-Justin, Sophie, primary, and Caputo, Sandrine M., primary
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- 2023
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24. Supplementary Table 1 from A Six-Gene Signature Predicting Breast Cancer Lung Metastasis
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Landemaine, Thomas, primary, Jackson, Amanda, primary, Bellahcène, Akeila, primary, Rucci, Nadia, primary, Sin, Soraya, primary, Abad, Berta Martin, primary, Sierra, Angels, primary, Boudinet, Alain, primary, Guinebretière, Jean-Marc, primary, Ricevuto, Enrico, primary, Noguès, Catherine, primary, Briffod, Marianne, primary, Bièche, Ivan, primary, Cherel, Pascal, primary, Garcia, Teresa, primary, Castronovo, Vincent, primary, Teti, Anna, primary, Lidereau, Rosette, primary, and Driouch, Keltouma, primary
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- 2023
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25. Data from A Six-Gene Signature Predicting Breast Cancer Lung Metastasis
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Landemaine, Thomas, primary, Jackson, Amanda, primary, Bellahcène, Akeila, primary, Rucci, Nadia, primary, Sin, Soraya, primary, Abad, Berta Martin, primary, Sierra, Angels, primary, Boudinet, Alain, primary, Guinebretière, Jean-Marc, primary, Ricevuto, Enrico, primary, Noguès, Catherine, primary, Briffod, Marianne, primary, Bièche, Ivan, primary, Cherel, Pascal, primary, Garcia, Teresa, primary, Castronovo, Vincent, primary, Teti, Anna, primary, Lidereau, Rosette, primary, and Driouch, Keltouma, primary
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- 2023
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26. Contralateral breast cancer risk in patients with breast cancer and a germline-BRCA1/2 pathogenic variant undergoing radiation.
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Barele, Mark van, Akdeniz, Delal, Heemskerk-Gerritsen, Bernadette A M, Genepso, Andrieu, Nadine, Noguès, Catherine, HEBON, Asperen, Christi J van, Wevers, Marijke, Ausems, Margreet G E M, Bock, Geertruida H de, Dommering, Charlotte J, Gómez-García, Encarnacion B, Leeuwen, Flora E van, Mooij, Thea M, EMBRACE, Easton, Douglas F, Antoniou, Antonis C, Evans, D Gareth, and Izatt, Louise
- Subjects
RADIOTHERAPY ,RADIATION carcinogenesis ,BREAST cancer ,CANCER patients ,DISEASE risk factors ,PROPORTIONAL hazards models ,STATISTICAL hypothesis testing - Abstract
Background Radiation-induced secondary breast cancer (BC) may be a concern after radiation therapy (RT) for primary breast cancer (PBC), especially in young patients with germline (g) BRCA –associated BC who already have high contralateral BC (CBC) risk and potentially increased genetic susceptibility to radiation. We sought to investigate whether adjuvant RT for PBC increases the risk of CBC in patients with g BRCA1/2 -associated BC. Methods The g BRCA1/2 pathogenic variant carriers diagnosed with PBC were selected from the prospective International BRCA1/2 Carrier Cohort Study. We used multivariable Cox proportional hazards models to investigate the association between RT (yes vs no) and CBC risk. We further stratified for BRCA status and age at PBC diagnosis (<40 and > 40 years). Statistical significance tests were 2-sided. Results Of 3602 eligible patients, 2297 (64%) received adjuvant RT. Median follow-up was 9.6 years. The RT group had more patients with stage III PBC than the non-RT group (15% vs 3%, P < .001), received chemotherapy more often (81% vs 70%, P < .001), and received endocrine therapy more often (50% vs 35%, P < .001). The RT group had an increased CBC risk compared with the non-RT group (adjusted hazard ratio [HR] = 1.44; 95% confidence interval [CI] = 1.12 to 1.86). Statistical significance was observed in g BRCA2 (HR = 1.77; 95% CI = 1.13 to 2.77) but not in g BRCA1 pathogenic variant carriers (HR = 1.29; 95% CI = 0.93 to 1.77; P = .39 for interaction). In the combined gBRCA1/2 group, patients irradiated when they were younger than or older than 40 years of age at PBC diagnosis showed similar risks (HR = 1.38; 95% CI = 0.93 to 2.04 and HR = 1.56; 95% CI = 1.11 to 2.19, respectively). Conclusions RT regimens minimizing contralateral breast dose should be considered in g BRCA1/2 pathogenic variant carriers. [ABSTRACT FROM AUTHOR]
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- 2023
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27. Additional file 3 of Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium
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Kast, Karin, John, Esther M., Hopper, John L., Andrieu, Nadine, Noguès, Catherine, Mouret-Fourme, Emmanuelle, Lasset, Christine, Fricker, Jean-Pierre, Berthet, Pascaline, Mari, Véronique, Salle, Lucie, Schmidt, Marjanka K., Ausems, Margreet G. E. M., Garcia, Encarnacion B. Gomez, van de Beek, Irma, Wevers, Marijke R., Evans, D. Gareth, Tischkowitz, Marc, Lalloo, Fiona, Cook, Jackie, Izatt, Louise, Tripathi, Vishakha, Snape, Katie, Musgrave, Hannah, Sharif, Saba, Murray, Jennie, Colonna, Sarah V., Andrulis, Irene L., Daly, Mary B., Southey, Melissa C., de la Hoya, Miguel, Osorio, Ana, Foretova, Lenka, Berkova, Dita, Gerdes, Anne-Marie, Olah, Edith, Jakubowska, Anna, Singer, Christian F., Tan, Yen, Augustinsson, Annelie, Rantala, Johanna, Simard, Jacques, Schmutzler, Rita K., Milne, Roger L., Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David, van Leeuwen, Flora E., Mooij, Thea M., Antoniou, Antonis C., Easton, Douglas F., Rookus, Matti A., and Engel, Christoph
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Additional file 3: Table S3. Retrospective analysis of height, body mass index, weight change and breast cancer risk, by menopausal status.
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- 2023
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28. Additional file 1 of Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium
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Kast, Karin, John, Esther M., Hopper, John L., Andrieu, Nadine, Noguès, Catherine, Mouret-Fourme, Emmanuelle, Lasset, Christine, Fricker, Jean-Pierre, Berthet, Pascaline, Mari, Véronique, Salle, Lucie, Schmidt, Marjanka K., Ausems, Margreet G. E. M., Garcia, Encarnacion B. Gomez, van de Beek, Irma, Wevers, Marijke R., Evans, D. Gareth, Tischkowitz, Marc, Lalloo, Fiona, Cook, Jackie, Izatt, Louise, Tripathi, Vishakha, Snape, Katie, Musgrave, Hannah, Sharif, Saba, Murray, Jennie, Colonna, Sarah V., Andrulis, Irene L., Daly, Mary B., Southey, Melissa C., de la Hoya, Miguel, Osorio, Ana, Foretova, Lenka, Berkova, Dita, Gerdes, Anne-Marie, Olah, Edith, Jakubowska, Anna, Singer, Christian F., Tan, Yen, Augustinsson, Annelie, Rantala, Johanna, Simard, Jacques, Schmutzler, Rita K., Milne, Roger L., Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David, van Leeuwen, Flora E., Mooij, Thea M., Antoniou, Antonis C., Easton, Douglas F., Rookus, Matti A., and Engel, Christoph
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Additional file 1: Table S1. Overview of the studies contributing to the retrospective and prospective analyses.
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- 2023
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29. Additional file 5 of Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium
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Kast, Karin, John, Esther M., Hopper, John L., Andrieu, Nadine, Noguès, Catherine, Mouret-Fourme, Emmanuelle, Lasset, Christine, Fricker, Jean-Pierre, Berthet, Pascaline, Mari, Véronique, Salle, Lucie, Schmidt, Marjanka K., Ausems, Margreet G. E. M., Garcia, Encarnacion B. Gomez, van de Beek, Irma, Wevers, Marijke R., Evans, D. Gareth, Tischkowitz, Marc, Lalloo, Fiona, Cook, Jackie, Izatt, Louise, Tripathi, Vishakha, Snape, Katie, Musgrave, Hannah, Sharif, Saba, Murray, Jennie, Colonna, Sarah V., Andrulis, Irene L., Daly, Mary B., Southey, Melissa C., de la Hoya, Miguel, Osorio, Ana, Foretova, Lenka, Berkova, Dita, Gerdes, Anne-Marie, Olah, Edith, Jakubowska, Anna, Singer, Christian F., Tan, Yen, Augustinsson, Annelie, Rantala, Johanna, Simard, Jacques, Schmutzler, Rita K., Milne, Roger L., Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David, van Leeuwen, Flora E., Mooij, Thea M., Antoniou, Antonis C., Easton, Douglas F., Rookus, Matti A., and Engel, Christoph
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Additional file 5: Table S5. Weight versus body mass index and breast cancer risk in BRCA1 and BRCA2 variant carriers, by menopausal status.
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- 2023
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30. Additional file 2 of Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium
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Kast, Karin, John, Esther M., Hopper, John L., Andrieu, Nadine, Noguès, Catherine, Mouret-Fourme, Emmanuelle, Lasset, Christine, Fricker, Jean-Pierre, Berthet, Pascaline, Mari, Véronique, Salle, Lucie, Schmidt, Marjanka K., Ausems, Margreet G. E. M., Garcia, Encarnacion B. Gomez, van de Beek, Irma, Wevers, Marijke R., Evans, D. Gareth, Tischkowitz, Marc, Lalloo, Fiona, Cook, Jackie, Izatt, Louise, Tripathi, Vishakha, Snape, Katie, Musgrave, Hannah, Sharif, Saba, Murray, Jennie, Colonna, Sarah V., Andrulis, Irene L., Daly, Mary B., Southey, Melissa C., de la Hoya, Miguel, Osorio, Ana, Foretova, Lenka, Berkova, Dita, Gerdes, Anne-Marie, Olah, Edith, Jakubowska, Anna, Singer, Christian F., Tan, Yen, Augustinsson, Annelie, Rantala, Johanna, Simard, Jacques, Schmutzler, Rita K., Milne, Roger L., Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David, van Leeuwen, Flora E., Mooij, Thea M., Antoniou, Antonis C., Easton, Douglas F., Rookus, Matti A., and Engel, Christoph
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Additional file 2: Table S2. Retrospective and prospective analysis of height in quintiles and breast cancer risk, by menopausal status.
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- 2023
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31. Additional file 4 of Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium
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Kast, Karin, John, Esther M., Hopper, John L., Andrieu, Nadine, Noguès, Catherine, Mouret-Fourme, Emmanuelle, Lasset, Christine, Fricker, Jean-Pierre, Berthet, Pascaline, Mari, Véronique, Salle, Lucie, Schmidt, Marjanka K., Ausems, Margreet G. E. M., Garcia, Encarnacion B. Gomez, van de Beek, Irma, Wevers, Marijke R., Evans, D. Gareth, Tischkowitz, Marc, Lalloo, Fiona, Cook, Jackie, Izatt, Louise, Tripathi, Vishakha, Snape, Katie, Musgrave, Hannah, Sharif, Saba, Murray, Jennie, Colonna, Sarah V., Andrulis, Irene L., Daly, Mary B., Southey, Melissa C., de la Hoya, Miguel, Osorio, Ana, Foretova, Lenka, Berkova, Dita, Gerdes, Anne-Marie, Olah, Edith, Jakubowska, Anna, Singer, Christian F., Tan, Yen, Augustinsson, Annelie, Rantala, Johanna, Simard, Jacques, Schmutzler, Rita K., Milne, Roger L., Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David, van Leeuwen, Flora E., Mooij, Thea M., Antoniou, Antonis C., Easton, Douglas F., Rookus, Matti A., and Engel, Christoph
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Additional file 4: Table S4. Prospective analysis of associations between height, body mass index, weight change and breast cancer risk, by menopausal status.
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- 2023
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32. The Identification of Large Rearrangements Involving Intron 2 of the CDH1 Gene in BRCA1/2 Negative and Breast Cancer Susceptibility
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Ben Aissa-Haj, Jihenne, primary, Pinheiro, Hugo, additional, Cornelis, François, additional, Sebai, Molka, additional, Meseure, Didier, additional, Briaux, Adrien, additional, Berteaux, Philippe, additional, Lefol, Cedric, additional, Des Guetz, Gaëtan, additional, Trassard, Martine, additional, Stevens, Denise, additional, Vialard, François, additional, Bieche, Ivan, additional, Noguès, Catherine, additional, Tang, Roseline, additional, Oliveira, Carla, additional, Stoppat-Lyonnet, Dominique, additional, Lidereau, Rosette, additional, and Rouleau, Etienne, additional
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- 2022
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33. Development of a scale for assessing respondents' perceptions of health research questionnaires (the REP-HQ Scale)
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Bouhnik, Anne-Déborah, Fabre, Roxane, Dorval, Michel, Mancini, Julien, Mouret-Fourme, Emmanuelle, Nogues, Catherine, and Julian-Reynier, Claire
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- 2012
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34. Indications et efficacité de la chirurgie prophylactique des cancers gynécologiques et digestifs avec prédisposition génétique
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Noguès, Catherine and Mouret-Fourme, Emmanuelle
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- 2012
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35. Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK)
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GENEPSO, EMBRACE, HEBON, Pijpe, Anouk, Andrieu, Nadine, Easton, Douglas F, Kesminiene, Ausrele, Cardis, Elisabeth, Noguès, Catherine, Peock, Susan, Manders, Peggy, Thierry-Chef, Isabelle, Hauptmann, Michael, Goldgar, David, Rookus, Matti A, and van Leeuwen, Flora E
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- 2012
36. Impact of BRCA1/2 mutation on young women’s 5-year parenthood rates: a prospective comparative study (GENEPSO-PS cohort)
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Mancini, Julien, Mouret-Fourme, Emmanuelle, Noguès, Catherine, and Julian-Reynier, Claire
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- 2015
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37. Genetics of Ovarian Carcinomas
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Sénéchal, Claire, primary, Buecher, Bruno, additional, de Pauw, Antoine, additional, Houdayer, Claude, additional, Rouleau, Etienne, additional, Noguès, Catherine, additional, and Stoppa-Lyonnet, Dominique, additional
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- 2016
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38. Liste des auteurs
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Aumont, Maud, primary, Azria, David, additional, Bachelot, Thomas, additional, Bacqué, Marie-Frédérique, additional, Barranger, Emmanuel, additional, Bonnefoi, Hervé, additional, Bonnier, Pascal, additional, Bordes, Virginie, additional, Boulet, Bérénice, additional, Breton-Callu, Christel, additional, Campone, Mario, additional, Classe, Jean-Marc, additional, Ceugnart, Luc, additional, Charitansky, Hélène, additional, Chauvet, Marie-Pierre, additional, Clough, Krishna B., additional, Cordina-Duverger, Émilie, additional, Coudert, Bruno, additional, Coutant, Charles, additional, Croce, Sabrina, additional, Cutuli, Bruno, additional, Dalenc, Florence, additional, Debled, Marc, additional, Deghaye, Michel, additional, Delnatte, Capucine, additional, Desmoulins, Isabelle, additional, Diéras, Véronique, additional, Doutriaux-Dumoulin, Isabelle, additional, Espérou, Hélène, additional, Faure, Christelle, additional, Ferron, Stéphane, additional, Frénel, Jean-Sébastien, additional, Fumoleau, Pierre, additional, Fyad, Jean Pascal, additional, Giard, Sylvia, additional, Guénel, Pascal, additional, Guérin, Nicole, additional, Heudel, Pierre, additional, Houvenaeghel, Gilles, additional, Jézéquel, Pascal, additional, Leblanc-Onfroy, Magali, additional, Lemanski, Claire, additional, MacGrogan, Gaëtan, additional, Massabeau, Carole, additional, Mervoyer, Augustin, additional, Mery, Éliane, additional, Noguès, Catherine, additional, Nos, Claude, additional, Salabert, Laura, additional, Séradour, Brigitte, additional, Sorin, Thomas, additional, Taieb, Sophie, additional, Trédan, Olivier, additional, Treilleux, Isabelle, additional, Tunon de Lara, Christine, additional, and Vincent-Salomon, Anne, additional
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- 2016
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39. Association and Performance of Polygenic Risk Scores for Breast Cancer Among French Women Presenting or Not a Familial Predisposition to the Disease
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Jiao, Yue, primary, Truong, Thérèse, additional, Eon-Marchais, Séverine, additional, Mebirouk, Noura, additional, Caputo, Sandrine M., additional, Dondon, Marie-Gabrielle, additional, Karimi, Mojgan, additional, Le Gal, Dorothée, additional, Beauvallet, Juana, additional, Le Floch, Edith, additional, Dandine-Roulland, Claire, additional, Bacq-Daian, Delphine, additional, Olaso, Robert, additional, Albuisson, Juliette, additional, Audebert-Bellanger, Séverine, additional, Berthet, Pascaline, additional, Bonadona, Valérie, additional, Buecher, Bruno, additional, Caron, Olivier, additional, Cavaillé, Mathias, additional, Chiesa, Jean, additional, Colas, Chrystelle, additional, Collonge-Rame, Marie-Agnès, additional, Coupier, Isabelle, additional, Delnatte, Capucine, additional, De Pauw, Antoine, additional, Dreyfus, Hélène, additional, Fert-Ferrer, Sandra, additional, Gauthier-Villars, Marion, additional, Gesta, Paul, additional, Giraud, Sophie, additional, Gladieff, Laurence, additional, Golmard, Lisa, additional, Lasset, Christine, additional, Lejeune-Dumoulin, Sophie, additional, Léone, Mélanie, additional, Limacher, Jean-Marc, additional, Lortholary, Alain, additional, Luporsi, Elisabeth, additional, Mari, Véronique, additional, Maugard, Christine M., additional, Mortemousque, Isabelle, additional, Mouret-Fourme, Emmanuelle, additional, Nambot, Sophie, additional, Noguès, Catherine, additional, Popovici, Cornel, additional, Prieur, Fabienne, additional, Pujol, Pascal, additional, Sevenet, Nicolas, additional, Sobol, Hagay, additional, Toulas, Christine, additional, Uhrhammer, Nancy, additional, Vaur, Dominique, additional, Venat, Laurence, additional, Boland-Augé, Anne, additional, Guénel, Pascal, additional, Deleuze, Jean-François, additional, Stoppa-Lyonnet, Dominique, additional, Andrieu, Nadine, additional, and Lesueur, Fabienne, additional
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- 2022
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40. Patients' characteristics and rate of Internet use to obtain cancer information
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Mancini, Julien, Noguès, Catherine, Adenis, Claude, Berthet, Pascaline, Bonadona, Valérie, Chompret, Agnès, Coupier, Isabelle, Eisinger, François, Fricker, Jean-Pierre, Gauthier-Villars, Marion, Lasset, Christine, Lortholary, Alain, N'Guyen, Tan Dat, Vennin, Philippe, Sobol, Hagay, Stoppa-Lyonnet, Dominique, and Julian-Reynier, Claire
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- 2006
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41. Is the psychological impact of genetic testing moderated by support and sharing of test results to family and friends?
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Lapointe, Julie, Dorval, Michel, Noguès, Catherine, Fabre, Roxane, Julian-Reynier, Claire, and GENEPSO Cohort
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- 2013
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42. “Maybe they have found something new” participantsʼ views on returning cohort psychosocial survey results
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Bureau, Eve, Pellegrini, Isabelle, Noguès, Catherine, Lasset, Christine, and Julian-Reynier, Claire
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- 2015
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43. Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation
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Benusiglio, Patrick R, Colas, Chystelle, Rouleau, Etienne, Uhrhammer, Nancy, Romero, Pierre, Remenieras, Audrey, Moretta, Jessica, Wang, Qing, De Pauw, Antoine, Buecher, Bruno, Stoppa-Lyonnet, Dominique, Mouret-Fourme, Emmanuelle, Noguès, Catherine, Di Maria, Marina, Tlemsani, Camille, Warcoin, Mathilde, Grandjouan, Sophie, Malka, David, Caron, Olivier, and Blayau, Martine
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- 2015
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44. TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing
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Lesueur, Fabienne, primary, Eon-Marchais, Séverine, additional, Bonnet-Boissinot, Sarah, additional, Beauvallet, Juana, additional, Dondon, Marie-Gabrielle, additional, Golmard, Lisa, additional, Rouleau, Etienne, additional, Garrec, Céline, additional, Martinez, Mathilde, additional, Toulas, Christine, additional, Nguyen, Tan Dat, additional, Brayotel, Fanny, additional, Crivelli, Louise, additional, Maugard, Christine M., additional, Bubien, Virginie, additional, Sevenet, Nicolas, additional, Gesta, Paul, additional, Chieze-Valero, Stéphanie, additional, Nambot, Sophie, additional, Goussot, Vincent, additional, Mari, Véronique, additional, Popovici, Cornel, additional, Prieur, Fabienne, additional, Morin-Meschin, Marie-Emmanuelle, additional, Tinat, Julie, additional, Lortholary, Alain, additional, Dreyfus, Hélène, additional, Bidart, Marie, additional, Collonge-Rame, Marie-Agnès, additional, Mozelle-Nivoix, Monique, additional, Gladieff, Laurence, additional, Giraud, Sophie, additional, Boutry-Kryza, Nadia, additional, Chiesa, Jean, additional, Denizeau, Philippe, additional, Bignon, Yves-Jean, additional, Uhrhammer, Nancy, additional, Cohen-Haguenauer, Odile, additional, Vilquin, Paul, additional, Mailliez, Audrey, additional, Coupier, Isabelle, additional, Rey, Jean-Marc, additional, Lacaze, Elodie, additional, Béra, Odile, additional, Colas, Chrystelle, additional, Coulet, Florence, additional, Delnatte, Capucine, additional, Houdayer, Claude, additional, Lasset, Christine, additional, Lemonnier, Jérôme, additional, Longy, Michel, additional, Noguès, Catherine, additional, Stoppa-Lyonnet, Dominique, additional, Vaur, Dominique, additional, Andrieu, Nadine, additional, and Caron, Olivier, additional
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- 2021
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45. Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study
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Schrijver, Lieske H., primary, Antoniou, Antonis C., additional, Olsson, Håkan, additional, Mooij, Thea M., additional, Roos-Blom, Marie-José, additional, Azarang, Leyla, additional, Adlard, Julian, additional, Ahmed, Munaza, additional, Barrowdale, Daniel, additional, Davidson, Rosemarie, additional, Donaldson, Alan, additional, Eeles, Ros, additional, Evans, D. Gareth, additional, Frost, Debra, additional, Henderson, Alex, additional, Izatt, Louise, additional, Ong, Kai-Ren, additional, Bonadona, Valérie, additional, Coupier, Isabelle, additional, Faivre, Laurence, additional, Fricker, Jean-Pierre, additional, Gesta, Paul, additional, van Engelen, Klaartje, additional, Jager, Agnes, additional, Menko, Fred H., additional, Mourits, Marian J.E., additional, Singer, Christian F., additional, Tan, Yen Y., additional, Foretova, Lenka, additional, Navratilova, Marie, additional, Schmutzler, Rita K., additional, Ellberg, Carolina, additional, Gerdes, Anne-Marie, additional, Caldes, Trinidad, additional, Simard, Jacques, additional, Olah, Edith, additional, Jakubowska, Anna, additional, Rantala, Johanna, additional, Osorio, Ana, additional, Hopper, John L., additional, Phillips, Kelly-Anne, additional, Milne, Roger L., additional, Beth Terry, Mary, additional, Noguès, Catherine, additional, Engel, Christoph, additional, Kast, Karin, additional, Goldgar, David E., additional, van Leeuwen, Flora E., additional, Easton, Douglas F., additional, Andrieu, Nadine, additional, Rookus, Matti A., additional, Laborde, Lilian, additional, Pontois, Pauline, additional, Breysse, Emanuelle, additional, Berline, Margot, additional, Stoppa-Lyonnet, Dominique, additional, Gauthier-Villars, Marion, additional, Buecher, Bruno, additional, Colas, Chrystelle, additional, Caron, Olivier, additional, Mouret-Fourme, Emmanuelle, additional, Saule, Claire, additional, Lasset, Christine, additional, Dussard, Sophie, additional, Berthet, Pascaline, additional, Luporsi, Elisabeth, additional, Mari, Véronique, additional, Gladieff, Laurence, additional, Chieze-Valéro, Stéphanie, additional, Moretta, Jessica, additional, Sobol, Hagay, additional, Eisinger, François, additional, Popovici, Cornel, additional, Longy, Michel, additional, Grivelli, Louise, additional, Soubrier, Florent, additional, Benusiglio, Patrick, additional, Pujol, Pascal, additional, Corsini, Carole, additional, Morin-Meschin, Marie-Emmanuelle, additional, Lortholary, Alain, additional, Adenis, Claude, additional, Maillez, Audrey, additional, Nguyen, Tan Dat, additional, Delnatte, Capucine, additional, Abadie, Caroline, additional, Tinat, Julie, additional, Tennevet, Isabelle, additional, Maugard, Christine, additional, Bignon, Yves-Jean, additional, Gay Bellile, Mathilde, additional, Penet, Clotilde, additional, Dreyfus, Hélène, additional, Cohen-Haguenauer, Odile, additional, Gilbert, Brigitte, additional, Venat-Bouvet, Laurence, additional, Leroux, Dominique, additional, Legrand, Clémentine, additional, Zattara-Cannoni, Hélène, additional, Layet, Valérie, additional, Lacaze, Elodie, additional, Fert-Ferrer, Sandra, additional, Bera, Odile, additional, Gilbert-Dussardier, Brigitte, additional, Tougeron, David, additional, Lallaoui, Hakima, additional, Rookus, M.A., additional, Hogervorst, F.B.L., additional, van Leeuwen, F.E., additional, Adank, M.A., additional, Schmidt, M.K., additional, Jenner, D.J., additional, Collée, J.M., additional, van den Ouweland, A.M.W., additional, Hooning, M.J., additional, Boere, I.A., additional, van Asperen, C.J., additional, Devilee, P., additional, van der Luijt, R.B., additional, van Cronenburg, T.C.T.E.F., additional, Wevers, M.R., additional, Mensenkamp, A.R., additional, Ausems, M.G.E.M., additional, Koudijs, M.J., additional, van de Beek, I., additional, van Engelen, K., additional, Gille, J.J.P., additional, Gómez García, E.B., additional, Blok, M.J., additional, de Boer, M., additional, Berger, L.P.V., additional, van der Hout, A.H., additional, Mourits, M.J.E., additional, de Bock, G.H., additional, Siesling, S., additional, Verloop, J., additional, and van den Broek, E.C., additional
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- 2021
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46. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
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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. 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[0000-0003-2444-3247], Apollo - University of Cambridge Repository, Becher, Heiko [0000-0002-8808-6667], RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, German Cancer Research Center (DKFZ), National Health and Medical Research Council of Australia, United States Department of Health & Human Services National Institutes of Health (NIH) - USA, National Institute for Health Research (NIHR), Institut National du Cancer (INCA) France, Ligue nationale contre le cancer, Cancer Research UK, European Commision, Canadian Institutes of Health Research (CIHR), Cancer Council New South Wales, Accion Estrategica de Salud del Instituto de Salud Carlos III FIS Intrasalud, Xunta de Galicia, Fomento de la Investigacion Clinica Independiente, Ministerio de Sanidad, Servicios Sociales e Igualdad, Spain, Fondo de Investigacion Sanitario, California Breast Cancer Research Fund, Federal Ministry of Education & Research (BMBF), Netherlands Government, Russian Foundation for Basic Research (RFBR), O'Mara, Tracy A [0000-0002-5436-3232], Tyrer, Jonathan P [0000-0003-3724-4757], Barnes, Daniel R [0000-0002-3781-7570], Andrulis, Irene L [0000-0002-4226-6435], Bojesen, Stig E [0000-0002-4061-4133], Chanock, Stephen J [0000-0002-2324-3393], Chung, Wendy K [0000-0003-3438-5685], Claes, Kathleen BM [0000-0003-0841-7372], Collée, J Margriet [0000-0002-9272-9346], Dunning, Alison M [0000-0001-6651-7166], Eliassen, A Heather [0000-0002-3961-6609], García-Sáenz, José A [0000-0001-6880-0301], Gayther, Simon A [0000-0001-7937-5443], Giles, Graham G [0000-0003-4946-9099], Greene, Mark H [0000-0003-1852-9239], Hart, Steven N [0000-0001-7714-2734], Hulick, Peter J [0000-0001-8397-4078], James, Paul A [0000-0002-4361-4657], Jones, Michael E [0000-0001-7479-3451], Kurian, Allison W [0000-0002-6175-9470], Martens, John WM [0000-0002-3428-3366], Milne, Roger L [0000-0001-5764-7268], Nathanson, Katherine L [0000-0002-6740-0901], Olopade, Olufunmilayo I [0000-0002-9936-1599], Olson, Janet E [0000-0003-4944-7789], Parsons, Michael T [0000-0003-3242-8477], Pharoah, Paul DP [0000-0001-8494-732X], Sandler, Dale P [0000-0002-6776-0018], Schmidt, Marjanka K [0000-0002-2228-429X], Toland, Amanda E [0000-0002-0271-1792], Vachon, Celine M [0000-0002-1962-9322], Weitzel, Jeffrey N [0000-0001-6714-092X], Zorn, Kristin K [0000-0003-2143-8979], Park, Sue K [0000-0001-5002-9707], Easton, Douglas F [0000-0003-2444-3247], HUS Comprehensive Cancer Center, Department of Oncology, Clinicum, INDIVIDRUG - Individualized Drug Therapy, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Institut Català de la Salut, [Coignard J] Genetic Epidemiology of Cancer team, Inserm, U900, Paris, France. Institut Curie Paris, Paris, France. Mines ParisTech Fontainebleau, Paris, France. Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. PSL University Paris, Paris, France. Paris Sud University, Orsay, France. [Lush M, Dennis J] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [Beesley J, O'Mara TA] Department of Genetics and Computational Biology QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. [Tyrer JP] Centre for Cancer Genetic Epidemiology, Department of Oncology University of Cambridge, Cambridge, UK. [Diez O] Oncogenetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Lopez-Fernández A] High Risk and Cancer Prevention Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Basic and Translational Research and Imaging Methodology Development in Groningen (BRIDGE), Life Course Epidemiology (LCE), Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), Human Genetics, ARD - Amsterdam Reproduction and Development, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, CCA - Cancer biology and immunology, Clinical Genetics, Medical Oncology, Pathology, and Radiology & Nuclear Medicine
- Subjects
0301 basic medicine ,Linkage disequilibrium ,endocrine system diseases ,Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES] ,45/43 ,General Physics and Astronomy ,Genome-wide association study ,Linkage Disequilibrium ,Breast cancer ,0302 clinical medicine ,3123 Gynaecology and paediatrics ,Risk Factors ,Genotype ,breast neoplasms ,Medicine and Health Sciences ,631/208/68 ,skin and connective tissue diseases ,Cancer genetics ,adult ,alleles ,BRCA1 protein ,BRCA2 protein ,female ,genetic predisposition to disease ,genome-wide association study ,genotype ,humans ,linkage disequilibrium ,middle aged ,mutation ,quantitative trait loci ,risk factors ,polymorphism, single nucleotide ,HEBON Investigators ,Genetics ,neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES] ,education.field_of_study ,Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17] ,Multidisciplinary ,Otros calificadores::Otros calificadores::/genética [Otros calificadores] ,BRCA1 Protein ,Genetic Predisposition to Disease/genetics ,article ,Single Nucleotide ,Middle Aged ,BRCA2 Protein/genetics ,3. Good health ,Mama - Càncer - Factors de risc ,030220 oncology & carcinogenesis ,Mutation (genetic algorithm) ,Genome-Wide Association Study/methods ,Medical genetics ,Female ,Medical Genetics ,692/499 ,Adult ,medicine.medical_specialty ,45/61 ,Science ,3122 Cancers ,Population ,Quantitative Trait Loci ,Genetic Phenomena::Genetic Variation::Mutation [PHENOMENA AND PROCESSES] ,ABCTB Investigators ,631/67/2324 ,Breast Neoplasms ,Biology ,Breast Neoplasms/genetics ,Polymorphism, Single Nucleotide ,General Biochemistry, Genetics and Molecular Biology ,Càncer de mama ,GEMO Study Collaborators ,03 medical and health sciences ,Cancer epidemiology ,SDG 3 - Good Health and Well-being ,Other subheadings::Other subheadings::/genetics [Other subheadings] ,medicine ,Humans ,Genetic Predisposition to Disease ,Allele ,Polymorphism ,education ,EMBRACE Collaborators ,fenómenos genéticos::variación genética::mutación [FENÓMENOS Y PROCESOS] ,Alleles ,Medicinsk genetik ,BRCA2 Protein ,Mutació (Biologia) ,General Chemistry ,631/67/1347 ,Genotype frequency ,030104 developmental biology ,Mutation ,Mama - Càncer - Aspectes genètics ,BRCA1 Protein/genetics ,3111 Biomedicine ,KConFab Investigators ,Quantitative Trait Loci/genetics ,Genètica ,Genome-Wide Association Study - Abstract
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. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P, Breast cancer risk for BRCA1/BRCA2 mutation carriers varies depending on other genetic factors. Here, the authors perform a case-only genome-wide association study and highlight novel loci associated with breast cancer risk for BRCA1/BRCA2 mutation carriers.
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- 2021
47. Additional file 1 of Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation
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Ribeiro Guerra, Maximiliano, Coignard, Juliette, Eon-Marchais, Séverine, Dondon, Marie-Gabrielle, Le Gal, Dorothée, Beauvallet, Juana, Mebirouk, Noura, Belotti, Muriel, Caron, Olivier, Gauthier-Villars, Marion, Coupier, Isabelle, Buecher, Bruno, Lortholary, Alain, Fricker, Jean-Pierre, Gesta, Paul, Noguès, Catherine, Faivre, Laurence, Berthet, Pascaline, Luporsi, Elisabeth, Delnatte, Capucine, Bonadona, Valérie, Maugard, Christine M., Pujol, Pascal, Lasset, Christine, Longy, Michel, Bignon, Yves-Jean, Adenis-Lavignasse, Claude, Venat-Bouvet, Laurence, Dreyfus, Hélène, Gladieff, Laurence, Mortemousque, Isabelle, Audebert-Bellanger, Séverine, Soubrier, Florent, Giraud, Sophie, Lejeune-Dumoulin, Sophie, Limacher, Jean-Marc, Chiesa, Jean, Fajac, Anne, Floquet, Anne, Eisinger, François, Tinat, Julie, Fert-Ferrer, Sandra, Colas, Chrystelle, Frebourg, Thierry, Damiola, Francesca, Barjhoux, Laure, Cavaciuti, Eve, Mazoyer, Sylvie, Tardivon, Anne, Lesueur, Fabienne, Stoppa-Lyonnet, Dominique, and Andrieu, Nadine
- Abstract
Additional file 1. doc includes ‘Supplementary Method Section’ on the eligibility criteria for admission of BC patients to family cancer clinics and DNA repair-related variants identification.
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- 2021
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48. Additional file 2 of Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation
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Ribeiro Guerra, Maximiliano, Coignard, Juliette, Eon-Marchais, Séverine, Dondon, Marie-Gabrielle, Le Gal, Dorothée, Beauvallet, Juana, Mebirouk, Noura, Belotti, Muriel, Caron, Olivier, Gauthier-Villars, Marion, Coupier, Isabelle, Buecher, Bruno, Lortholary, Alain, Fricker, Jean-Pierre, Gesta, Paul, Noguès, Catherine, Faivre, Laurence, Berthet, Pascaline, Luporsi, Elisabeth, Delnatte, Capucine, Bonadona, Valérie, Maugard, Christine M., Pujol, Pascal, Lasset, Christine, Longy, Michel, Bignon, Yves-Jean, Adenis-Lavignasse, Claude, Venat-Bouvet, Laurence, Dreyfus, Hélène, Gladieff, Laurence, Mortemousque, Isabelle, Audebert-Bellanger, Séverine, Soubrier, Florent, Giraud, Sophie, Lejeune-Dumoulin, Sophie, Limacher, Jean-Marc, Chiesa, Jean, Fajac, Anne, Floquet, Anne, Eisinger, François, Tinat, Julie, Fert-Ferrer, Sandra, Colas, Chrystelle, Frebourg, Thierry, Damiola, Francesca, Barjhoux, Laure, Cavaciuti, Eve, Mazoyer, Sylvie, Tardivon, Anne, Lesueur, Fabienne, Stoppa-Lyonnet, Dominique, and Andrieu, Nadine
- Abstract
Additional file 2: doc includes ‘Supplementary tables’. Supplemental Table 1. Comparison of the distribution of the characteristics between the subset of cases and controls with and without sequenced genes. Supplemental Table 2. Effect of lifetime chest X-ray exposure (any exposure) on breast cancer risk according to the number of exposures, the age at first exposure and the first full-term pregnancy by age at censor. Supplemental Table 3. Effect of lifetime chest X-ray exposure (any exposure) on breast cancer risk according to the number of exposures, the age at first exposure and the first full-term pregnancy by family history of breast cancer. Supplemental Table 4. Effect of variant carrier status on breast cancer in the GENESIS population. Supplemental Table 5. Effect of lifetime chest X-ray exposure (any exposure) on breast cancer risk according to the number of exposures, the age at first exposure and the first full-term pregnancy by birth cohort, after imputation of missing data. Supplemental Table 6. Effect of lifetime chest X-ray exposure (any exposure) on breast cancer risk according to the number of exposures, the age at first exposure and the first full-term pregnancy by age at censoring, after imputation of missing data. Supplemental Table 7. Effect of lifetime chest X-ray exposure (any exposure) on breast cancer risk according to the number of exposures, the age at first exposure and the first full-term pregnancy by family history of breast cancer and by variant carrier status, after imputation of missing data. Supplemental Table 8. Effect of lifetime chest X-ray exposure (any exposure) on breast cancer risk according to the number of exposures, the age at first exposure and the first full-term pregnancy stratified by variant carrier status, after imputation of missing data. Supplemental Table 9. Effect of lifetime chest X-ray exposure (any exposure) on breast cancer risk according to the number of exposures, the age at first exposure and the first full-term pregnancy by status of tumor estrogen receptors, after imputation of missing data. Supplemental Table 10. Effect of lifetime chest X-ray exposure (any exposure) on breast cancer risk according to the number of exposures, the age at first exposure and the first full-term pregnancy among cases diagnosed within 5 years before enrollment in GENESIS. Supplemental Table 11. Sensitivity analyses with varying bounds of OR for the definition of genetic variant group: effect of lifetime chest X-ray exposure (any exposure) on breast cancer risk according to the number of exposures, the age at first exposure and the first full-term pregnancy. Supplemental Table 12. Sensitivity analyses by variants group, excluding variants from the ‘High’ Group in genes individually statistically (or borderline) associated with an increased risk of breast cancer in GENESIS population.
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49. Additional file 1 of A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers
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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, and Caputo, Sandrine M.
- Abstract
Additional file 1: Table S1. Confusion matrix. Table S2. Score distribution for all record pairs comparisons between GEMO and GENEPSO in dataset 1. Table S3. Size of each dataset A after blocking. Table S4. List of matches identified by either PRL or RF. Table S5. Performance of the unsupervised machine learning models.
- Published
- 2021
- Full Text
- View/download PDF
50. Variation in breast cancer risk with mutation position, smoking, alcohol, and chest X-ray history, in the French National BRCA1/2 carrier cohort (GENEPSO)
- Author
-
Lecarpentier, Julie, Noguès, Catherine, Mouret-Fourme, Emmanuelle, Stoppa-Lyonnet, Dominique, Lasset, Christine, Caron, Olivier, Fricker, Jean-Pierre, Gladieff, Laurence, Faivre, Laurence, Sobol, Hagay, Gesta, Paul, Frenay, Marc, Luporsi, Elisabeth, Coupier, Isabelle, Lidereau, Rosette, Andrieu, Nadine, and GENEPSO
- Published
- 2011
- Full Text
- View/download PDF
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