317 results on '"Coupier, Isabelle"'
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. Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.
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Qian, Frank, Wang, Shengfeng, Mitchell, Jonathan, McGuffog, Lesley, Barrowdale, Daniel, Leslie, Goska, Oosterwijk, Jan C, Chung, Wendy K, Evans, D Gareth, Engel, Christoph, Kast, Karin, Aalfs, Cora M, Adank, Muriel A, Adlard, Julian, Agnarsson, Bjarni A, Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L, Arun, Banu K, Ausems, Margreet GEM, Azzollini, Jacopo, Barouk-Simonet, Emmanuelle, Barwell, Julian, Belotti, Muriel, Benitez, Javier, Berger, Andreas, Borg, Ake, Bradbury, Angela R, Brunet, Joan, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Campbell, Ian, Caputo, Sandrine M, Chiquette, Jocelyne, Claes, Kathleen BM, Margriet Collée, J, Couch, Fergus J, Coupier, Isabelle, Daly, Mary B, Davidson, Rosemarie, Diez, Orland, Domchek, Susan M, Donaldson, Alan, Dorfling, Cecilia M, Eeles, Ros, Feliubadaló, Lidia, Foretova, Lenka, Fowler, Jeffrey, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, Garcia-Barberan, Vanesa, Glendon, Gord, Godwin, Andrew K, Gómez Garcia, Encarna B, Gronwald, Jacek, Hahnen, Eric, Hamann, Ute, Henderson, Alex, Hendricks, Carolyn B, Hopper, John L, Hulick, Peter J, Imyanitov, Evgeny N, Isaacs, Claudine, Izatt, Louise, Izquierdo, Ángel, Jakubowska, Anna, Kaczmarek, Katarzyna, Kang, Eunyoung, Karlan, Beth Y, Kets, Carolien M, Kim, Sung-Won, Kim, Zisun, Kwong, Ava, Laitman, Yael, Lasset, Christine, Hyuk Lee, Min, Won Lee, Jong, Lee, Jihyoun, Lester, Jenny, Lesueur, Fabienne, Loud, Jennifer T, Lubinski, Jan, Mebirouk, Noura, Meijers-Heijboer, Hanne EJ, Meindl, Alfons, Miller, Austin, Montagna, Marco, Mooij, Thea M, Morrison, Patrick J, Mouret-Fourme, Emmanuelle, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn C, Nussbaum, Robert L, and Offit, Kenneth
- Subjects
GEMO Study Collaborators ,HEBON ,EMBRACE ,Humans ,Breast Neoplasms ,Genetic Predisposition to Disease ,BRCA1 Protein ,BRCA2 Protein ,Body Mass Index ,Body Height ,Prognosis ,Risk Factors ,Mutation ,Polymorphism ,Single Nucleotide ,Adult ,Female ,Mendelian Randomization Analysis ,Oncology & Carcinogenesis ,Oncology and Carcinogenesis - Abstract
BackgroundBRCA1/2 mutations confer high lifetime risk of breast cancer, although other factors may modify this risk. Whether height or body mass index (BMI) modifies breast cancer risk in BRCA1/2 mutation carriers remains unclear.MethodsWe used Mendelian randomization approaches to evaluate the association of height and BMI on breast cancer risk, using data from the Consortium of Investigators of Modifiers of BRCA1/2 with 14 676 BRCA1 and 7912 BRCA2 mutation carriers, including 11 451 cases of breast cancer. We created a height genetic score using 586 height-associated variants and a BMI genetic score using 93 BMI-associated variants. We examined both observed and genetically determined height and BMI with breast cancer risk using weighted Cox models. All statistical tests were two-sided.ResultsObserved height was positively associated with breast cancer risk (HR = 1.09 per 10 cm increase, 95% confidence interval [CI] = 1.0 to 1.17; P = 1.17). Height genetic score was positively associated with breast cancer, although this was not statistically significant (per 10 cm increase in genetically predicted height, HR = 1.04, 95% CI = 0.93 to 1.17; P = .47). Observed BMI was inversely associated with breast cancer risk (per 5 kg/m2 increase, HR = 0.94, 95% CI = 0.90 to 0.98; P = .007). BMI genetic score was also inversely associated with breast cancer risk (per 5 kg/m2 increase in genetically predicted BMI, HR = 0.87, 95% CI = 0.76 to 0.98; P = .02). BMI was primarily associated with premenopausal breast cancer.ConclusionHeight is associated with overall breast cancer and BMI is associated with premenopausal breast cancer in BRCA1/2 mutation carriers. Incorporating height and BMI, particularly genetic score, into risk assessment may improve cancer management.
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- 2019
4. 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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5. 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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6. Thirteen years' experience of 893 PGD cycles for monogenic disorders in a publicly funded, nationally regulated regional hospital service
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Girardet, Anne, Ishmukhametova, Aliya, Viart, Victoria, Plaza, Stéphanie, Saguet, Florielle, Verriere, Garance, Hamamah, Samir, Coupier, Isabelle, Haquet, Emmanuelle, Anahory, Tal, Willems, Marjolaine, and Claustres, Mireille
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- 2018
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7. Clinical implications of CTNNA1 germline mutations in asymptomatic carriers
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Benusiglio, Patrick R., Colas, Chrystelle, Guillerm, Erell, Canard, Axelle, Delhomelle, Hélène, Warcoin, Mathilde, Bellanger, Jérôme, Eyries, Mélanie, Zizi, Mohamed, Netter, Jeanne, Soubrier, Florent, Parc, Yann, Mourregot, Anne, Maran Gonzalez, Aurélie, Cusin, Veronica, Denis, Jérôme A., Coupier, Isabelle, Svrcek, Magali, and Coulet, Florence
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- 2019
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8. Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations
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Pujol, Pascal, Vande Perre, Pierre, Faivre, Laurence, Sanlaville, Damien, Corsini, Carole, Baertschi, Bernard, Anahory, Michèle, Vaur, Dominique, Olschwang, Sylviane, Soufir, Nadem, Bastide, Noëlle, Amar, Sarah, Vintraud, Michèle, Ingster, Olivier, Richard, Stéphane, Le Coz, Pierre, Spano, Jean-Philippe, Caron, Olivier, Hammel, Pascal, Luporsi, Elisabeth, Toledano, Alain, Rebillard, Xavier, Cambon-Thomsen, Anne, Putois, Olivier, Rey, Jean-Marc, Hervé, Christian, Zorn, Caroline, Baudry, Karen, Galibert, Virginie, Gligorov, Joseph, Azria, David, Bressac-de Paillerets, Brigitte, Burnichon, Nelly, Spielmann, Marc, Zarca, Daniel, Coupier, Isabelle, Cussenot, Olivier, Gimenez-Roqueplo, Anne-Paule, Giraud, Sophie, Lapointe, Anne-Sophie, Niccoli, Patricia, Raingeard, Isabelle, Le Bidan, Muriel, Frebourg, Thierry, Rafii, Arash, and Geneviève, David
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- 2018
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9. 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
10. Endoscopic Phenotype of Monoallelic Carriers of MUTYH Gene Mutations in the Family of Polyposis Patients: A Prospective Study
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El Hachem, Noha, Abadie, Caroline, Longy, Michel, Colas, Chrystelle, Fert-Ferrer, Sandra, Leroux, Dominique, Grandval, Philippe, Prieur, Fabienne, Collonge-Rame, MarieAgnes, Faivre, Laurence, Fricker, J. P., Zerbib, Frank, Coupier, Isabelle, Cauchin, Estelle, Pinson, Stephane, and Saurin, Jean Christophe
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- 2019
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11. ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors
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Uro-Coste, Emmanuelle, Masliah-Planchon, Julien, Siegfried, Aurore, Blanluet, Maud, Lambo, Sander, Kool, Marcel, Roujeau, Thomas, Boetto, Sergio, Palenzuela, Gilles, Bertozzi, Anne-Isabelle, Gambart, Marion, Coupier, Isabelle, Oliver-Petit, Isabelle, Golmard, Lisa, Julia, Sophie, Savagner, Fréderique, Mohand-Oumoussa, Badreddine, Tauziede-Espariat, Arnault, Delisle, Marie-Bernadette, Figarella-Branger, Dominique, Bourdeaut, Franck, and Rigau, Valérie
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- 2019
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12. Data from Frequent hSNF5/INI1 Germline Mutations in Patients with Rhabdoid Tumor
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Bourdeaut, Franck, primary, Lequin, Delphine, primary, Brugières, Laurence, primary, Reynaud, Stéphanie, primary, Dufour, Christelle, primary, Doz, François, primary, André, Nicolas, primary, Stephan, Jean-Louis, primary, Pérel, Yves, primary, Oberlin, Odile, primary, Orbach, Daniel, primary, Bergeron, Christophe, primary, Rialland, Xavier, primary, Fréneaux, Paul, primary, Ranchere, Dominique, primary, Figarella-Branger, Dominique, primary, Audry, Georges, primary, Puget, Stéphanie, primary, Evans, D. Gareth, primary, Pinas, Joan Carles Ferreres, primary, Capra, Valeria, primary, Mosseri, Véronique, primary, Coupier, Isabelle, primary, Gauthier-Villars, Marion, primary, Pierron, Gaëlle, primary, and Delattre, Olivier, primary
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- 2023
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13. Supplementary Table 2 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
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Peterlongo, Paolo, primary, Chang-Claude, Jenny, primary, Moysich, Kirsten B., primary, Rudolph, Anja, primary, Schmutzler, Rita K., primary, Simard, Jacques, primary, Soucy, Penny, primary, Eeles, Rosalind A., primary, Easton, Douglas F., primary, Hamann, Ute, primary, Wilkening, Stefan, primary, Chen, Bowang, primary, Rookus, Matti A., primary, Schmidt, Marjanka K., primary, van der Baan, Frederieke H., primary, Spurdle, Amanda B., primary, Walker, Logan C., primary, Lose, Felicity, primary, Maia, Ana-Teresa, primary, Montagna, Marco, primary, Matricardi, Laura, primary, Lubinski, Jan, primary, Jakubowska, Anna, primary, Gómez Garcia, Encarna B., primary, Olopade, Olufunmilayo I., primary, Nussbaum, Robert L., primary, Nathanson, Katherine L., primary, Domchek, Susan M., primary, Rebbeck, Timothy R., primary, Arun, Banu K., primary, Karlan, Beth Y., primary, Orsulic, Sandra, primary, Lester, Jenny, primary, Chung, Wendy K., primary, Miron, Alex, primary, Southey, Melissa C., primary, Goldgar, David E., primary, Buys, Saundra S., primary, Janavicius, Ramunas, primary, Dorfling, Cecilia M., primary, van Rensburg, Elizabeth J., primary, Ding, Yuan Chun, primary, Neuhausen, Susan L., primary, Hansen, Thomas V.O., primary, Gerdes, Anne-Marie, primary, Ejlertsen, Bent, primary, Jønson, Lars, primary, Osorio, Ana, primary, Martínez-Bouzas, Cristina, primary, Benitez, Javier, primary, Conway, Edye E., primary, Blazer, Kathleen R., primary, Weitzel, Jeffrey N., primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Zaffaroni, Daniela, primary, Scuvera, Giulietta, primary, Barile, Monica, primary, Ficarazzi, Filomena, primary, Mariette, Frederique, primary, Fortuzzi, Stefano, primary, Viel, Alessandra, primary, Giannini, Giuseppe, primary, Papi, Laura, primary, Martayan, Aline, primary, Tibiletti, Maria Grazia, primary, Radice, Paolo, primary, Vratimos, Athanassios, primary, Fostira, Florentia, primary, Garber, Judy E., primary, Donaldson, Alan, primary, Brewer, Carole, primary, Foo, Claire, primary, Evans, D. Gareth R., primary, Frost, Debra, primary, Eccles, Diana, primary, Brady, Angela, primary, Cook, Jackie, primary, Tischkowitz, Marc, primary, Adlard, Julian, primary, Barwell, Julian, primary, Walker, Lisa, primary, Izatt, Louise, primary, Side, Lucy E., primary, Kennedy, M. John, primary, Rogers, Mark T., primary, Porteous, Mary E., primary, Morrison, Patrick J., primary, Platte, Radka, primary, Davidson, Rosemarie, primary, Hodgson, Shirley V., primary, Ellis, Steve, primary, Cole, Trevor, primary, Godwin, Andrew K., primary, Claes, Kathleen, primary, Van Maerken, Tom, primary, Meindl, Alfons, primary, Gehrig, Andrea, primary, Sutter, Christian, primary, Engel, Christoph, primary, Niederacher, Dieter, primary, Steinemann, Doris, primary, Plendl, Hansjoerg, primary, Kast, Karin, primary, Rhiem, Kerstin, primary, Ditsch, Nina, primary, Arnold, Norbert, primary, Varon-Mateeva, Raymonda, primary, Wappenschmidt, Barbara, primary, Wang-Gohrke, Shan, primary, Bressac-de Paillerets, Brigitte, primary, Buecher, Bruno, primary, Delnatte, Capucine, primary, Houdayer, Claude, primary, Stoppa-Lyonnet, Dominique, primary, Damiola, Francesca, primary, Coupier, Isabelle, primary, Barjhoux, Laure, primary, Venat-Bouvet, Laurence, primary, Golmard, Lisa, primary, Boutry-Kryza, Nadia, primary, Sinilnikova, Olga M., primary, Caron, Olivier, primary, Pujol, Pascal, primary, Mazoyer, Sylvie, primary, Belotti, Muriel, primary, Piedmonte, Marion, primary, Friedlander, Michael L., primary, Rodriguez, Gustavo C., primary, Copeland, Larry J., primary, de la Hoya, Miguel, primary, Segura, Pedro Perez, primary, Nevanlinna, Heli, primary, Aittomäki, Kristiina, primary, van Os, Theo A.M., primary, Meijers-Heijboer, Hanne E.J., primary, van der Hout, Annemarie H., primary, Vreeswijk, Maaike P.G., primary, Hoogerbrugge, Nicoline, primary, Ausems, Margreet G.E.M., primary, van Doorn, Helena C., primary, Collée, J. Margriet, primary, Olah, Edith, primary, Diez, Orland, primary, Blanco, Ignacio, primary, Lazaro, Conxi, primary, Brunet, Joan, primary, Feliubadalo, Lidia, primary, Cybulski, Cezary, primary, Gronwald, Jacek, primary, Durda, Katarzyna, primary, Jaworska-Bieniek, Katarzyna, primary, Sukiennicki, Grzegorz, primary, Arason, Adalgeir, primary, Chiquette, Jocelyne, primary, Teixeira, Manuel R., primary, Olswold, Curtis, primary, Couch, Fergus J., primary, Lindor, Noralane M., primary, Wang, Xianshu, primary, Szabo, Csilla I., primary, Offit, Kenneth, primary, Corines, Marina, primary, Jacobs, Lauren, primary, Robson, Mark E., primary, Zhang, Liying, primary, Joseph, Vijai, primary, Berger, Andreas, primary, Singer, Christian F., primary, Rappaport, Christine, primary, Kaulich, Daphne Geschwantler, primary, Pfeiler, Georg, primary, Tea, Muy-Kheng M., primary, Phelan, Catherine M., primary, Greene, Mark H., primary, Mai, Phuong L., primary, Rennert, Gad, primary, Mulligan, Anna Marie, primary, Glendon, Gord, primary, Tchatchou, Sandrine, primary, Andrulis, Irene L., primary, Toland, Amanda Ewart, primary, Bojesen, Anders, primary, Pedersen, Inge Sokilde, primary, Thomassen, Mads, primary, Jensen, Uffe Birk, primary, Laitman, Yael, primary, Rantala, Johanna, primary, von Wachenfeldt, Anna, primary, Ehrencrona, Hans, primary, Askmalm, Marie Stenmark, primary, Borg, Åke, primary, Kuchenbaecker, Karoline B., primary, McGuffog, Lesley, primary, Barrowdale, Daniel, primary, Healey, Sue, primary, Lee, Andrew, primary, Pharoah, Paul D.P., primary, Chenevix-Trench, Georgia, primary, Antoniou, Antonis C., primary, and Friedman, Eitan, primary
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- 2023
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14. Supplementary Tables 1-4 from Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
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Couch, Fergus J., primary, Gaudet, Mia M., primary, Antoniou, Antonis C., primary, Ramus, Susan J., primary, Kuchenbaecker, Karoline B., primary, Soucy, Penny, primary, Beesley, Jonathan, primary, Chen, Xiaoqing, primary, Wang, Xianshu, primary, Kirchhoff, Tomas, primary, McGuffog, Lesley, primary, Barrowdale, Daniel, primary, Lee, Andrew, primary, Healey, Sue, primary, Sinilnikova, Olga M., primary, Andrulis, Irene L., primary, Ozcelik, Hilmi, primary, Mulligan, Anna Marie, primary, Thomassen, Mads, primary, Gerdes, Anne-Marie, primary, Jensen, Uffe Birk, primary, Skytte, Anne-Bine, primary, Kruse, Torben A., primary, Caligo, Maria A., primary, von Wachenfeldt, Anna, primary, Barbany-Bustinza, Gisela, primary, Loman, Niklas, primary, Soller, Maria, primary, Ehrencrona, Hans, primary, Karlsson, Per, primary, Nathanson, Katherine L., primary, Rebbeck, Timothy R., primary, Domchek, Susan M., primary, Jakubowska, Ania, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Złowocka, Elżbieta, primary, Huzarski, Tomasz, primary, Byrski, Tomasz, primary, Gronwald, Jacek, primary, Cybulski, Cezary, primary, Górski, Bohdan, primary, Osorio, Ana, primary, Durán, Mercedes, primary, Tejada, María Isabel, primary, Benitez, Javier, primary, Hamann, Ute, primary, Hogervorst, Frans B.L., primary, van Os, Theo A., primary, van Leeuwen, Flora E., primary, Meijers-Heijboer, Hanne E.J., primary, Wijnen, Juul, primary, Blok, Marinus J., primary, Kets, Marleen, primary, Hooning, Maartje J., primary, Oldenburg, Rogier A., primary, Ausems, Margreet G.E.M., primary, Peock, Susan, primary, Frost, Debra, primary, Ellis, Steve D., primary, Platte, Radka, primary, Fineberg, Elena, primary, Evans, D. Gareth, primary, Jacobs, Chris, primary, Eeles, Rosalind A., primary, Adlard, Julian, primary, Davidson, Rosemarie, primary, Eccles, Diana M., primary, Cole, Trevor, primary, Cook, Jackie, primary, Paterson, Joan, primary, Brewer, Carole, primary, Douglas, Fiona, primary, Hodgson, Shirley V., primary, Morrison, Patrick J., primary, Walker, Lisa, primary, Porteous, Mary E., primary, Kennedy, M. John, primary, Side, Lucy E., primary, Bove, Betsy, primary, Godwin, Andrew K., primary, Stoppa-Lyonnet, Dominique, primary, Fassy-Colcombet, Marion, primary, Castera, Laurent, primary, Cornelis, François, primary, Mazoyer, Sylvie, primary, Léoné, Mélanie, primary, Boutry-Kryza, Nadia, primary, Bressac-de Paillerets, Brigitte, primary, Caron, Olivier, primary, Pujol, Pascal, primary, Coupier, Isabelle, primary, Delnatte, Capucine, primary, Akloul, Linda, primary, Lynch, Henry T., primary, Snyder, Carrie L., primary, Buys, Saundra S., primary, Daly, Mary B., primary, Terry, MaryBeth, primary, Chung, Wendy K., primary, John, Esther M., primary, Miron, Alexander, primary, Southey, Melissa C., primary, Hopper, John L., primary, Goldgar, David E., primary, Singer, Christian F., primary, Rappaport, Christine, primary, Tea, Muy-Kheng M., primary, Fink-Retter, Anneliese, primary, Hansen, Thomas V.O., primary, Nielsen, Finn C., primary, Arason, Aðalgeir, primary, Vijai, Joseph, primary, Shah, Sohela, primary, Sarrel, Kara, primary, Robson, Mark E., primary, Piedmonte, Marion, primary, Phillips, Kelly, primary, Basil, Jack, primary, Rubinstein, Wendy S., primary, Boggess, John, primary, Wakeley, Katie, primary, Ewart-Toland, Amanda, primary, Montagna, Marco, primary, Agata, Simona, primary, Imyanitov, Evgeny N., primary, Isaacs, Claudine, primary, Janavicius, Ramunas, primary, Lazaro, Conxi, primary, Blanco, Ignacio, primary, Feliubadalo, Lidia, primary, Brunet, Joan, primary, Gayther, Simon A., primary, Pharoah, Paul P.D., primary, Odunsi, Kunle O., primary, Karlan, Beth Y., primary, Walsh, Christine S., primary, Olah, Edith, primary, Teo, Soo Hwang, primary, Ganz, Patricia A., primary, Beattie, Mary S., primary, van Rensburg, Elizabeth J., primary, Dorfling, Cecelia M., primary, Diez, Orland, primary, Kwong, Ava, primary, Schmutzler, Rita K., primary, Wappenschmidt, Barbara, primary, Engel, Christoph, primary, Meindl, Alfons, primary, Ditsch, Nina, primary, Arnold, Norbert, primary, Heidemann, Simone, primary, Niederacher, Dieter, primary, Preisler-Adams, Sabine, primary, Gadzicki, Dorothea, primary, Varon-Mateeva, Raymonda, primary, Deissler, Helmut, primary, Gehrig, Andrea, primary, Sutter, Christian, primary, Kast, Karin, primary, Fiebig, Britta, primary, Heinritz, Wolfram, primary, Caldes, Trinidad, primary, de la Hoya, Miguel, primary, Muranen, Taru A., primary, Nevanlinna, Heli, primary, Tischkowitz, Marc D., primary, Spurdle, Amanda B., primary, Neuhausen, Susan L., primary, Ding, Yuan Chun, primary, Lindor, Noralane M., primary, Fredericksen, Zachary, primary, Pankratz, V. Shane, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Zaffaroni, Daniela, primary, Barile, Monica, primary, Bernard, Loris, primary, Viel, Alessandra, primary, Giannini, Giuseppe, primary, Varesco, Liliana, primary, Radice, Paolo, primary, Greene, Mark H., primary, Mai, Phuong L., primary, Easton, Douglas F., primary, Chenevix-Trench, Georgia, primary, Offit, Kenneth, primary, and Simard, Jacques, primary
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- 2023
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15. Supplementary Table 3 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
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Peterlongo, Paolo, primary, Chang-Claude, Jenny, primary, Moysich, Kirsten B., primary, Rudolph, Anja, primary, Schmutzler, Rita K., primary, Simard, Jacques, primary, Soucy, Penny, primary, Eeles, Rosalind A., primary, Easton, Douglas F., primary, Hamann, Ute, primary, Wilkening, Stefan, primary, Chen, Bowang, primary, Rookus, Matti A., primary, Schmidt, Marjanka K., primary, van der Baan, Frederieke H., primary, Spurdle, Amanda B., primary, Walker, Logan C., primary, Lose, Felicity, primary, Maia, Ana-Teresa, primary, Montagna, Marco, primary, Matricardi, Laura, primary, Lubinski, Jan, primary, Jakubowska, Anna, primary, Gómez Garcia, Encarna B., primary, Olopade, Olufunmilayo I., primary, Nussbaum, Robert L., primary, Nathanson, Katherine L., primary, Domchek, Susan M., primary, Rebbeck, Timothy R., primary, Arun, Banu K., primary, Karlan, Beth Y., primary, Orsulic, Sandra, primary, Lester, Jenny, primary, Chung, Wendy K., primary, Miron, Alex, primary, Southey, Melissa C., primary, Goldgar, David E., primary, Buys, Saundra S., primary, Janavicius, Ramunas, primary, Dorfling, Cecilia M., primary, van Rensburg, Elizabeth J., primary, Ding, Yuan Chun, primary, Neuhausen, Susan L., primary, Hansen, Thomas V.O., primary, Gerdes, Anne-Marie, primary, Ejlertsen, Bent, primary, Jønson, Lars, primary, Osorio, Ana, primary, Martínez-Bouzas, Cristina, primary, Benitez, Javier, primary, Conway, Edye E., primary, Blazer, Kathleen R., primary, Weitzel, Jeffrey N., primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Zaffaroni, Daniela, primary, Scuvera, Giulietta, primary, Barile, Monica, primary, Ficarazzi, Filomena, primary, Mariette, Frederique, primary, Fortuzzi, Stefano, primary, Viel, Alessandra, primary, Giannini, Giuseppe, primary, Papi, Laura, primary, Martayan, Aline, primary, Tibiletti, Maria Grazia, primary, Radice, Paolo, primary, Vratimos, Athanassios, primary, Fostira, Florentia, primary, Garber, Judy E., primary, Donaldson, Alan, primary, Brewer, Carole, primary, Foo, Claire, primary, Evans, D. Gareth R., primary, Frost, Debra, primary, Eccles, Diana, primary, Brady, Angela, primary, Cook, Jackie, primary, Tischkowitz, Marc, primary, Adlard, Julian, primary, Barwell, Julian, primary, Walker, Lisa, primary, Izatt, Louise, primary, Side, Lucy E., primary, Kennedy, M. John, primary, Rogers, Mark T., primary, Porteous, Mary E., primary, Morrison, Patrick J., primary, Platte, Radka, primary, Davidson, Rosemarie, primary, Hodgson, Shirley V., primary, Ellis, Steve, primary, Cole, Trevor, primary, Godwin, Andrew K., primary, Claes, Kathleen, primary, Van Maerken, Tom, primary, Meindl, Alfons, primary, Gehrig, Andrea, primary, Sutter, Christian, primary, Engel, Christoph, primary, Niederacher, Dieter, primary, Steinemann, Doris, primary, Plendl, Hansjoerg, primary, Kast, Karin, primary, Rhiem, Kerstin, primary, Ditsch, Nina, primary, Arnold, Norbert, primary, Varon-Mateeva, Raymonda, primary, Wappenschmidt, Barbara, primary, Wang-Gohrke, Shan, primary, Bressac-de Paillerets, Brigitte, primary, Buecher, Bruno, primary, Delnatte, Capucine, primary, Houdayer, Claude, primary, Stoppa-Lyonnet, Dominique, primary, Damiola, Francesca, primary, Coupier, Isabelle, primary, Barjhoux, Laure, primary, Venat-Bouvet, Laurence, primary, Golmard, Lisa, primary, Boutry-Kryza, Nadia, primary, Sinilnikova, Olga M., primary, Caron, Olivier, primary, Pujol, Pascal, primary, Mazoyer, Sylvie, primary, Belotti, Muriel, primary, Piedmonte, Marion, primary, Friedlander, Michael L., primary, Rodriguez, Gustavo C., primary, Copeland, Larry J., primary, de la Hoya, Miguel, primary, Segura, Pedro Perez, primary, Nevanlinna, Heli, primary, Aittomäki, Kristiina, primary, van Os, Theo A.M., primary, Meijers-Heijboer, Hanne E.J., primary, van der Hout, Annemarie H., primary, Vreeswijk, Maaike P.G., primary, Hoogerbrugge, Nicoline, primary, Ausems, Margreet G.E.M., primary, van Doorn, Helena C., primary, Collée, J. Margriet, primary, Olah, Edith, primary, Diez, Orland, primary, Blanco, Ignacio, primary, Lazaro, Conxi, primary, Brunet, Joan, primary, Feliubadalo, Lidia, primary, Cybulski, Cezary, primary, Gronwald, Jacek, primary, Durda, Katarzyna, primary, Jaworska-Bieniek, Katarzyna, primary, Sukiennicki, Grzegorz, primary, Arason, Adalgeir, primary, Chiquette, Jocelyne, primary, Teixeira, Manuel R., primary, Olswold, Curtis, primary, Couch, Fergus J., primary, Lindor, Noralane M., primary, Wang, Xianshu, primary, Szabo, Csilla I., primary, Offit, Kenneth, primary, Corines, Marina, primary, Jacobs, Lauren, primary, Robson, Mark E., primary, Zhang, Liying, primary, Joseph, Vijai, primary, Berger, Andreas, primary, Singer, Christian F., primary, Rappaport, Christine, primary, Kaulich, Daphne Geschwantler, primary, Pfeiler, Georg, primary, Tea, Muy-Kheng M., primary, Phelan, Catherine M., primary, Greene, Mark H., primary, Mai, Phuong L., primary, Rennert, Gad, primary, Mulligan, Anna Marie, primary, Glendon, Gord, primary, Tchatchou, Sandrine, primary, Andrulis, Irene L., primary, Toland, Amanda Ewart, primary, Bojesen, Anders, primary, Pedersen, Inge Sokilde, primary, Thomassen, Mads, primary, Jensen, Uffe Birk, primary, Laitman, Yael, primary, Rantala, Johanna, primary, von Wachenfeldt, Anna, primary, Ehrencrona, Hans, primary, Askmalm, Marie Stenmark, primary, Borg, Åke, primary, Kuchenbaecker, Karoline B., primary, McGuffog, Lesley, primary, Barrowdale, Daniel, primary, Healey, Sue, primary, Lee, Andrew, primary, Pharoah, Paul D.P., primary, Chenevix-Trench, Georgia, primary, Antoniou, Antonis C., primary, and Friedman, Eitan, primary
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- 2023
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16. Data from Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
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Couch, Fergus J., primary, Gaudet, Mia M., primary, Antoniou, Antonis C., primary, Ramus, Susan J., primary, Kuchenbaecker, Karoline B., primary, Soucy, Penny, primary, Beesley, Jonathan, primary, Chen, Xiaoqing, primary, Wang, Xianshu, primary, Kirchhoff, Tomas, primary, McGuffog, Lesley, primary, Barrowdale, Daniel, primary, Lee, Andrew, primary, Healey, Sue, primary, Sinilnikova, Olga M., primary, Andrulis, Irene L., primary, Ozcelik, Hilmi, primary, Mulligan, Anna Marie, primary, Thomassen, Mads, primary, Gerdes, Anne-Marie, primary, Jensen, Uffe Birk, primary, Skytte, Anne-Bine, primary, Kruse, Torben A., primary, Caligo, Maria A., primary, von Wachenfeldt, Anna, primary, Barbany-Bustinza, Gisela, primary, Loman, Niklas, primary, Soller, Maria, primary, Ehrencrona, Hans, primary, Karlsson, Per, primary, Nathanson, Katherine L., primary, Rebbeck, Timothy R., primary, Domchek, Susan M., primary, Jakubowska, Ania, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Złowocka, Elżbieta, primary, Huzarski, Tomasz, primary, Byrski, Tomasz, primary, Gronwald, Jacek, primary, Cybulski, Cezary, primary, Górski, Bohdan, primary, Osorio, Ana, primary, Durán, Mercedes, primary, Tejada, María Isabel, primary, Benitez, Javier, primary, Hamann, Ute, primary, Hogervorst, Frans B.L., primary, van Os, Theo A., primary, van Leeuwen, Flora E., primary, Meijers-Heijboer, Hanne E.J., primary, Wijnen, Juul, primary, Blok, Marinus J., primary, Kets, Marleen, primary, Hooning, Maartje J., primary, Oldenburg, Rogier A., primary, Ausems, Margreet G.E.M., primary, Peock, Susan, primary, Frost, Debra, primary, Ellis, Steve D., primary, Platte, Radka, primary, Fineberg, Elena, primary, Evans, D. Gareth, primary, Jacobs, Chris, primary, Eeles, Rosalind A., primary, Adlard, Julian, primary, Davidson, Rosemarie, primary, Eccles, Diana M., primary, Cole, Trevor, primary, Cook, Jackie, primary, Paterson, Joan, primary, Brewer, Carole, primary, Douglas, Fiona, primary, Hodgson, Shirley V., primary, Morrison, Patrick J., primary, Walker, Lisa, primary, Porteous, Mary E., primary, Kennedy, M. John, primary, Side, Lucy E., primary, Bove, Betsy, primary, Godwin, Andrew K., primary, Stoppa-Lyonnet, Dominique, primary, Fassy-Colcombet, Marion, primary, Castera, Laurent, primary, Cornelis, François, primary, Mazoyer, Sylvie, primary, Léoné, Mélanie, primary, Boutry-Kryza, Nadia, primary, Bressac-de Paillerets, Brigitte, primary, Caron, Olivier, primary, Pujol, Pascal, primary, Coupier, Isabelle, primary, Delnatte, Capucine, primary, Akloul, Linda, primary, Lynch, Henry T., primary, Snyder, Carrie L., primary, Buys, Saundra S., primary, Daly, Mary B., primary, Terry, MaryBeth, primary, Chung, Wendy K., primary, John, Esther M., primary, Miron, Alexander, primary, Southey, Melissa C., primary, Hopper, John L., primary, Goldgar, David E., primary, Singer, Christian F., primary, Rappaport, Christine, primary, Tea, Muy-Kheng M., primary, Fink-Retter, Anneliese, primary, Hansen, Thomas V.O., primary, Nielsen, Finn C., primary, Arason, Aðalgeir, primary, Vijai, Joseph, primary, Shah, Sohela, primary, Sarrel, Kara, primary, Robson, Mark E., primary, Piedmonte, Marion, primary, Phillips, Kelly, primary, Basil, Jack, primary, Rubinstein, Wendy S., primary, Boggess, John, primary, Wakeley, Katie, primary, Ewart-Toland, Amanda, primary, Montagna, Marco, primary, Agata, Simona, primary, Imyanitov, Evgeny N., primary, Isaacs, Claudine, primary, Janavicius, Ramunas, primary, Lazaro, Conxi, primary, Blanco, Ignacio, primary, Feliubadalo, Lidia, primary, Brunet, Joan, primary, Gayther, Simon A., primary, Pharoah, Paul P.D., primary, Odunsi, Kunle O., primary, Karlan, Beth Y., primary, Walsh, Christine S., primary, Olah, Edith, primary, Teo, Soo Hwang, primary, Ganz, Patricia A., primary, Beattie, Mary S., primary, van Rensburg, Elizabeth J., primary, Dorfling, Cecelia M., primary, Diez, Orland, primary, Kwong, Ava, primary, Schmutzler, Rita K., primary, Wappenschmidt, Barbara, primary, Engel, Christoph, primary, Meindl, Alfons, primary, Ditsch, Nina, primary, Arnold, Norbert, primary, Heidemann, Simone, primary, Niederacher, Dieter, primary, Preisler-Adams, Sabine, primary, Gadzicki, Dorothea, primary, Varon-Mateeva, Raymonda, primary, Deissler, Helmut, primary, Gehrig, Andrea, primary, Sutter, Christian, primary, Kast, Karin, primary, Fiebig, Britta, primary, Heinritz, Wolfram, primary, Caldes, Trinidad, primary, de la Hoya, Miguel, primary, Muranen, Taru A., primary, Nevanlinna, Heli, primary, Tischkowitz, Marc D., primary, Spurdle, Amanda B., primary, Neuhausen, Susan L., primary, Ding, Yuan Chun, primary, Lindor, Noralane M., primary, Fredericksen, Zachary, primary, Pankratz, V. Shane, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Zaffaroni, Daniela, primary, Barile, Monica, primary, Bernard, Loris, primary, Viel, Alessandra, primary, Giannini, Giuseppe, primary, Varesco, Liliana, primary, Radice, Paolo, primary, Greene, Mark H., primary, Mai, Phuong L., primary, Easton, Douglas F., primary, Chenevix-Trench, Georgia, primary, Offit, Kenneth, primary, and Simard, Jacques, primary
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- 2023
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17. Supplementary Data from Frequent hSNF5/INI1 Germline Mutations in Patients with Rhabdoid Tumor
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Bourdeaut, Franck, primary, Lequin, Delphine, primary, Brugières, Laurence, primary, Reynaud, Stéphanie, primary, Dufour, Christelle, primary, Doz, François, primary, André, Nicolas, primary, Stephan, Jean-Louis, primary, Pérel, Yves, primary, Oberlin, Odile, primary, Orbach, Daniel, primary, Bergeron, Christophe, primary, Rialland, Xavier, primary, Fréneaux, Paul, primary, Ranchere, Dominique, primary, Figarella-Branger, Dominique, primary, Audry, Georges, primary, Puget, Stéphanie, primary, Evans, D. Gareth, primary, Pinas, Joan Carles Ferreres, primary, Capra, Valeria, primary, Mosseri, Véronique, primary, Coupier, Isabelle, primary, Gauthier-Villars, Marion, primary, Pierron, Gaëlle, primary, and Delattre, Olivier, primary
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- 2023
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18. The “extreme phenotype approach” applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles
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Chevarin, Martin, primary, Alcantara, Diana, additional, Albuisson, Juliette, additional, Collonge-Rame, Marie-Agnès, additional, Populaire, Céline, additional, Selmani, Zohair, additional, Baurand, Amandine, additional, Sawka, Caroline, additional, Bertolone, Geoffrey, additional, Callier, Patrick, additional, Duffourd, Yannis, additional, Jonveaux, Philippe, additional, Bignon, Yves-Jean, additional, Coupier, Isabelle, additional, Cornelis, François, additional, Cordier, Christophe, additional, Mozelle-Nivoix, Monique, additional, Rivière, Jean-Baptiste, additional, Kuentz, Paul, additional, Thauvin, Christel, additional, Boidot, Romain, additional, Ghiringhelli, François, additional, O'Driscoll, Marc, additional, Faivre, Laurence, additional, and Nambot, Sophie, additional
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- 2023
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19. Early onset breast cancer: differences in risk factors, tumor phenotype, and genotype between North African and South European women
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Corsini, Carole, Henouda, Sarra, Nejima, Dalel Ben, Bertet, Héléna, Toledano, Alain, Boussen, Hamouda, Habib, Faouzi, Mouhout, Asma, Gaballah, Ahmed, Ghazaly, Hesham El, Bourgier, Céline, Coupier, Isabelle, Galibert, Virginie, Baudry, Karen, Vilquin, Paul, Biquard, Louise, Rey, Jean-Marc, Belkacemi, Yazid, Ihout, Paul, Khayat, David, Picot, Marie-Christine, Bensalem, Assia, and Pujol, Pascal
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- 2017
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20. The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
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Lakeman, Inge M. M., Van Den Broek, Alexandra J., Vos, Juliën A. M., Barnes, Daniel R., Adlard, Julian, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Balmaña, Judith, Barrowdale, Daniel, Giraud, Sophie, Golmard, Lisa, Hake, Christopher R., Houdayer, Claude, Risch, Harvey A., Lasset, Christine, Laurent, Maïté, Spurdle, Amanda B., Hooning, Maartje J., Hopper, John L., Kets, Carolien M., Leroux, Dominique, Longy, Michel, Mari, Véronique, Mazoyer, Sylvie, Mebirouk, Noura, Mortemousque, Isabelle, Blok, Marinus J., Prieur, Fabienne, Hamann, Ute, Pujol, Pascal, Konstantopoulou, Irene, Heemskerk Gerritsen, Bernadette A. M., Isaacs, Claudine, Saule, Claire, Piedmonte, Marion, Schuster, Helene, Sevenet, Nicolas, Sobol, Hagay, Sokolowska, Johanna, Gómez Garcia, Encarna B., Venat Bouvet, Laurence, Claes, Kathleen B. M., Ahmed, Munaza, Teixeira, Manuel R., Barwell, Julian, Brady, Angela, Izatt, Louise, Hogervorst, Frans B. L., Brennan, Paul, Harrington, Patricia A., Henderson, Alex, Hodgson, Shirley, Kwong, Ava, Borg, Ake, Kennedy, M. John, Porteous, Mary E., Rogers, Mark T., Side, Lucy E., Snape, Katie, Walker, Lisa, Collée, J. Margriet, Jakubowska, Anna, Couch, Fergus J., Hahnen, Eric, Daly, Mary B., Dennis, Joe, Teo, Soo Hwang, Jensen, Uffe Birk, Rantala, Johanna, Dhawan, Mallika, Benitez, Javier, Domchek, Susan M., Eeles, Ros, Engel, Christoph, Legrand, Clémentine, Evans, D. Gareth, James, Paul A., Feliubadaló i Elorza, Maria Lídia, Teulé-Vega, Àlex, Foretova, Lenka, Castera, Laurent, Friedman, Eitan, Frost, Debra, Rennert, Gad, Ganz, Patricia A., Leslie, Goska, Garber, Judy, Hulick, Peter J., Imyanitov, Evgeny N., Glendon, Gord, Thomassen, Mads, Janavicius, Ramunas, Mulligan, Anna Marie, Hollestelle, Antoinette, Jager, Agnes, Koppert, Linetta B., Cook, Jackie, Koudijs, Marco, Kriege, Mieke, Meijers Heijboer, Hanne E. J., Schmutzler, Rita K., Mensenkamp, Arjen R., Dunning, Alison M., Mooij, Thea M., Oosterwijk, Jan C., Caux Moncoutier, Virginie, Singer, Christian F., Berthet, Pascaline, Caldés, Trinidad, Van den Ouweland, Ans M. W., Van der Baan, Frederieke H., Van der Hout, Annemieke H., Van der Kolk, Lizet E., Van der Luijt, Rob B., Thull, Darcy L., Van Deurzen, Carolien H. M., Sharma, Priyanka, Van Doorn, Helena C., Bignon, Yves Jean, Colas, Chrystelle, Van Engelen, Klaartje, Brewer, Carole, Van Hest, Liselotte P., Van Os, Theo A. M., Caligo, Maria A., Verhoef, Senno, Tischkowitz, Marc, Vogel, Maartje J., Wijnen, Juul T., Lalloo, Fiona, Beesley, Jonathan, Fox, Stephen, Collonge Rame, Marie Agnès, Simard, Jacques, Holland, Helene, Jiao, Yue, John, Esther M., Joseph, Vijai, Gerdes, Anne Marie, Karlan, Beth Y., Lesueur, Fabienne, Loud, Jennifer T., Lubiński, Jan, Manoukian, Siranoush, Mcguffog, Lesley, Miller, Austin, Coupier, Isabelle, Gomes, Denise Molina, Barouk Simonet, Emmanuelle, Montagna, Marco, Miller, Clare, Elan, Camille, Davidson, Rosemarie, Mouret Fourme, Emmanuelle, Gayther, Simon A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Pauw, Antoine de, Olah, Edith, Morrison, Patrick J., Olopade, Olufunmilayo I., Van Asperen, Christi J., Park, Sue K., Parsons, Michael T., Donaldson, Alan, Belotti, Muriel, Peterlongo, Paolo, Stadler, Zsofia, Stoppa Lyonnet, Dominique, Sutter, Christian, Ong, Kai Ren, Delnatte, Capucine, Tan, Yen Yen, Toland, Amanda E., Tung, Nadine, Van Rensburg, Elizabeth J., Vega, Ana, Wappenschmidt, Barbara, Devilee, Peter, Eason, Jacqueline, Chung, Wendy K., Bernstein, Jonine L., Offit, Kenneth, Aalfs, Cora M., Hanson, Helen, Godwin, Andrew K., Easton, Douglas F., Bonadona, Valérie, Rookus, Matti A., Chenevix-Trench, Georgia, Antoniou, Antonis C., O’shaughnessy Kirwan, Aoife, Robson, Mark, Eccles, Diana M., Schmidt, Marjanka K., Adank, Muriel A., Gemo Study Collaborators, Phillips, Kelly Anne, Embrace Collaborators, Ocgn Investigators, Goldgar, David E., Hebon Investigators, Perkins, Jo, Kconfab Investigators, Bressac de Paillerets, Brigitte, Buecher, Bruno, Caputo, Sandrine, Ausems, Margreet G. E. M., Gregory, Helen, Caron, Olivier, Faivre, Laurence, Fert Ferrer, Sandra, Gauthier Villars, Marion, Radice, Paolo, Gesta, Paul, Clinical Genetics, Medical Oncology, Surgery, Pathology, Gynecological Oncology, Schmidt, Marjanka K. [0000-0002-2228-429X], Apollo - University of Cambridge Repository, Targeted Gynaecologic Oncology (TARGON), Damage and Repair in Cancer Development and Cancer Treatment (DARE), Schmidt, Marjanka K [0000-0002-2228-429X], HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Institut Català de la Salut, [Lakeman IMM] Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. [van den Broek AJ, Vos JAM] Division of Molecular Pathology, The Netherlands Cancer Institute–Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands. [Barnes DR] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [Adlard J] Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK. [Andrulis IL] Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada. Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. [Balmaña J] Hereditary cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Pediatric surgery, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, CCA - Cancer biology and immunology, Epidemiology and Data Science, Human Genetics, ARD - Amsterdam Reproduction and Development, APH - Personalized Medicine, APH - Quality of Care, Chapel Allerton Hospital, University of Leeds, Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto-Cancer Care Ontario, Reykjavík University, Division of Oncology, Department of Gynaecology and Obstetrics, University Hospital Schleswig–Holstein, The University of Texas M.D. Anderson Cancer Center [Houston], Unitat d'Alt Risc i Prevenció del Càncer, Vall d'Hebron University Hospital [Barcelona], University of Cambridge [UK] (CAM), Group of Human Genetics, Human Cancer Genetics Programme, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Department of Oncology, Clinical Sciences, Lund University [Lund]-Skåne University Hospital, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos [Madrid, Spain] (IdISSC), Section of Genetic Oncology, University of Pisa - Università di Pisa, Columbia University [New York], Ghent University Hospital, Department of Clinical Genetics, Erasmus University Medical Center [Rotterdam] (Erasmus MC)-Family Cancer Clinic, Department of Laboratory Medicine and Pathology, Mayo Clinic, Division of Population Science, Fox Chase Cancer Center, Institut Curie [Paris], Mines Paris - PSL (École nationale supérieure des mines de Paris), Université Paris sciences et lettres (PSL), CHU Grenoble, CHI Poissy-Saint-Germain, Unité de génétique et biologie des cancers (U830), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle (MIVEGEC), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud]), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA KG Polikliniek (9), and Klinische Genetica
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0301 basic medicine ,Percentile ,Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease [DISEASES] ,Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES] ,SUSCEPTIBILITY ALLELES ,Diàtesi ,FAMILIES ,Tumours of the digestive tract Radboud Institute for Health Sciences [Radboudumc 14] ,MESH: BRCA2 Protein ,Breast cancer ,0302 clinical medicine ,MESH: Risk Factors ,Risk Factors ,Other subheadings::/diagnosis [Other subheadings] ,Medicine and Health Sciences ,Medicine ,Mama - Càncer - Diagnòstic ,Family history ,skin and connective tissue diseases ,Genetics (clinical) ,MESH: Heterozygote ,neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES] ,Factors de risc en les malalties ,BRCA1 Protein ,Hazard ratio ,MESH: Genetic Predisposition to Disease ,1184 Genetics, developmental biology, physiology ,article ,OVARIAN ,BRCA2 Protein/genetics ,Women's cancers Radboud Institute for Health Sciences [Radboudumc 17] ,3. Good health ,030220 oncology & carcinogenesis ,Female ,Malalties congènites ,Adult ,Heterozygote ,medicine.medical_specialty ,MESH: Mutation ,Risk factors in diseases ,Otros calificadores::/diagnóstico [Otros calificadores] ,Breast Neoplasms ,Context (language use) ,MUTATION CARRIERS ,Càncer de mama ,afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::susceptibilidad a enfermedades::predisposición genética a la enfermedad [ENFERMEDADES] ,03 medical and health sciences ,SDG 3 - Good Health and Well-being ,Internal medicine ,Humans ,Genetic Predisposition to Disease ,MESH: BRCA1 Protein ,Retrospective Studies ,BRCA2 Protein ,MESH: Humans ,business.industry ,Proportional hazards model ,CONSORTIUM ,Breast Neoplasms/diagnosis ,MESH: Adult ,MESH: Retrospective Studies ,Retrospective cohort study ,medicine.disease ,Confidence interval ,030104 developmental biology ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Mutation ,BRCA1 Protein/genetics ,3111 Biomedicine ,business ,MESH: Female ,MESH: Breast Neoplasms - Abstract
Predicció de risc de càncer de mama; Dones europees; Variant patògena heterozigota Predicción del riesgo de cáncer de mama; Mujeres europeas; Variante patógena heterocigota Breast cancer risk prediction; European women; Heterozygous pathogenic variant Purpose To evaluate the association between a previously published 313 variant–based breast cancer (BC) polygenic risk score (PRS313) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes. Methods We included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS313 and CBC risk. Results For BRCA1 heterozygotes the estrogen receptor (ER)-negative PRS313 showed the largest association with CBC risk, hazard ratio (HR) per SD = 1.12, 95% confidence interval (CI) (1.06–1.18), C-index = 0.53; for BRCA2 heterozygotes, this was the ER-positive PRS313, HR = 1.15, 95% CI (1.07–1.25), C-index = 0.57. Adjusting for family history, age at diagnosis, treatment, or pathological characteristics for the first BC did not change association effect sizes. For women developing first BC
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- 2021
21. A family with two cases of melanocytic tumors and fragile X syndrome
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Lesage, Candice, Coupier, Isabelle, and Guillot, Bernard
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- 2017
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22. Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers
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Renault, Anne-Laure, Mebirouk, Noura, Fuhrmann, Laetitia, Bataillon, Guillaume, Cavaciuti, Eve, Le Gal, Dorothée, Girard, Elodie, Popova, Tatiana, La Rosa, Philippe, Beauvallet, Juana, Eon-Marchais, Séverine, Dondon, Marie-Gabrielle, d’Enghien, Catherine Dubois, Laugé, Anthony, Chemlali, Walid, Raynal, Virginie, Labbé, Martine, Bièche, Ivan, Baulande, Sylvain, Bay, Jacques-Olivier, Berthet, Pascaline, Caron, Olivier, Buecher, Bruno, Faivre, Laurence, Fresnay, Marc, Gauthier-Villars, Marion, Gesta, Paul, Janin, Nicolas, Lejeune, Sophie, Maugard, Christine, Moutton, Sébastien, Venat-Bouvet, Laurence, Zattara, Hélène, Fricker, Jean-Pierre, Gladieff, Laurence, Coupier, Isabelle, CoF-AT, GENESIS, kConFab, Chenevix-Trench, Georgia, Hall, Janet, Vincent-Salomon, Anne, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, and Lesueur, Fabienne
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- 2018
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23. Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families
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Renault, Anne-Laure, Mebirouk, Noura, Cavaciuti, Eve, Le Gal, Dorothée, Lecarpentier, Julie, d’Enghien, Catherine Dubois, Laugé, Anthony, Dondon, Marie-Gabrielle, Labbé, Martine, Lesca, Gaetan, Leroux, Dominique, Gladieff, Laurence, Adenis, Claude, Faivre, Laurence, Gilbert-Dussardier, Brigitte, Lortholary, Alain, Fricker, Jean-Pierre, Dahan, Karin, Bay, Jacques-Olivier, Longy, Michel, Buecher, Bruno, Janin, Nicolas, Zattara, Hélène, Berthet, Pascaline, Combès, Audrey, Coupier, Isabelle, Hall, Janet, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, and Lesueur, Fabienne
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- 2017
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24. Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma
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Jouenne, Fanélie, Chauvot de Beauchene, Isaure, Bollaert, Emeline, Avril, Marie-Françoise, Caron, Olivier, Ingster, Olivier, Lecesne, Axel, Benusiglio, Patrick, Terrier, Philippe, Caumette, Vincent, Pissaloux, Daniel, de la Fouchardière, Arnaud, Cabaret, Odile, N’Diaye, Birama, Velghe, Amélie, Bougeard, Gaelle, Mann, Graham J, Koscielny, Serge, Barrett, Jennifer H, Harland, Mark, Newton-Bishop, Julia, Gruis, Nelleke, Van Doorn, Remco, Gauthier-Villars, Marion, Pierron, Gaelle, Stoppa-Lyonnet, Dominique, Coupier, Isabelle, Guimbaud, Rosine, Delnatte, Capucine, Scoazec, Jean-Yves, Eggermont, Alexander M, Feunteun, Jean, Tchertanov, Luba, Demoulin, Jean-Baptiste, Frebourg, Thierry, and Bressac-de Paillerets, Brigitte
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- 2017
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25. Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma
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Burnichon, Nelly, Mazzella, Jean-Michaël, Drui, Delphine, Amar, Laurence, Bertherat, Jérôme, Coupier, Isabelle, Delemer, Brigitte, Guilhem, Isabelle, Herman, Philippe, Kerlan, Véronique, Tabarin, Antoine, Wion, Nelly, Lahlou-Laforet, Khadija, Favier, Judith, and Gimenez-Roqueplo, Anne-Paule
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- 2017
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26. 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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27. 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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28. 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, Caputo, Sandrine, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Léone, Mélanie, Bressac- de Paillerets, Brigitte, Caron, Olivier, Guillaud-Bataille, Marine, Bignon, Yves-Jean, Uhrhammer, Nancy, Bonadona, Valérie, Lasset, Christine, Berthet, Pascaline, Castera, Laurent, Vaur, Dominique, Bourdon, Violaine, Noguchi, Tetsuro, Popovici, Cornel, Remenieras, Audrey, Sobol, Hagay, Coupier, Isabelle, Harmand, Pierre-Olivier, Pujol, Pascal, Vilquin, Paul, Dumont, Aurélie, Révillion, Françoise, Muller, Danièle, Barouk-Simonet, Emmanuelle, Bonnet, Françoise, Bubien, Virginie, Longy, Michel, Sevenet, Nicolas, Gladieff, Laurence, Guimbaud, Rosine, Feillel, Viviane, Toulas, Christine, Dreyfus, Hélène, Leroux, Dominique, Peysselon, Magalie, Rebischung, Christine, Baurand, Amandine, Bertolone, Geoffrey, Coron, Fanny, Faivre, Laurence, Goussot, Vincent, Jacquot, Caroline, Sawka, Caroline, Kientz, Caroline, Lebrun, Marine, Prieur, Fabienne, Fert-Ferrer, Sandra, Mari, Véronique, Venat-Bouvet, Laurence, Bézieau, Stéphane, Delnatte, Capucine, Mortemousque, Isabelle, Coulet, Florence, Soubrier, Florent, Warcoin, Mathilde, Bronner, Myriam, Lizard, Sarab, Sokolowska, Johanna, Collonge-Rame, Marie-Agnès, Damette, Alexandre, Gesta, Paul, Lallaoui, Hakima, Chiesa, Jean, Molina-Gomes, Denise, Ingster, Olivier, Manouvrier-Hanu, Sylvie, Lejeune, Sophie, Pontois, Pauline, Lyonnet, Dominique Stoppa, Gauthier-Villars, Marion, Buecher, Bruno, Mouret-Fourme, Emmanuelle, Fricker, Jean-Pierre, Luporsi, Elisabeth, Frenay, Marc, Eisinger, Francois, Moretta, Jessica, Dugast, Catherine, Colas, Chrystelle, Lortholary, Alain, Vennin, Philippe, Adenis, Claude, Nguyen, Tan Dat, Rossi, Annick, Tinat, Julie, Tennevet, Isabelle, Limacher, Jean-Marc, Maugard, Christine, Bignon, Jean-Yves, Demange, Liliane, Cohen-Haguenauer, Odile, Gilbert, Brigitte, Zattara-Cannoni, Hélène, Institut Curie [Paris], Université Paris sciences et lettres (PSL), Cancer et génome: Bioinformatique, biostatistiques et épidémiologie d'un système complexe, MINES ParisTech - École nationale supérieure des mines de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Bioinformatique (CBIO), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Unité de génétique et biologie des cancers (U830), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), Aix Marseille Université (AMU), Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale (SESSTIM - U1252 INSERM - Aix Marseille Univ - UMR 259 IRD), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Paris (UP), Nadia Boutry-Kryza, Alain Calender, Sophie Giraud, Mélanie Léone, Brigitte Bressac-de-Paillerets, Olivier Caron, Marine Guillaud-Bataille, Yves-Jean Bignon, Nancy Uhrhammer, Valérie Bonadona, Christine Lasset, Pascaline Berthet, Laurent Castera, Dominique Vaur, Violaine Bourdon, Catherine Noguès, Tetsuro Noguchi, Cornel Popovici, Audrey Remenieras, Hagay Sobol, Isabelle Coupier, Pierre-Olivier Harmand, Pascal Pujol, Paul Vilquin, Aurélie Dumont, Françoise Révillion, Danièle Muller, Emmanuelle Barouk-Simonet, Françoise Bonnet, Virginie Bubien, Michel Longy, Nicolas Sévenet, Laurence Gladieff, Rosine Guimbaud, Viviane Feillel, Christine Toulas, Hélène Dreyfus, Dominique Leroux, Magalie Peysselon, Christine Rebischung, Amandine Baurand, Geoffrey Bertolone, Fanny Coron, Laurence Faivre, Vincent Goussot, Caroline Jacquot, Caroline Sawka, Caroline Kientz, Marine Lebrun, Fabienne Prieur, Sandra Fert-Ferrer, Véronique Mari, Laurence Vénat-Bouvet, Stéphane Bézieau, Capucine Delnatte, Isabelle Mortemousque, Florence Coulet, Florent Soubrier, Mathilde Warcoin, Myriam Bronner, Sarab Lizard, Johanna Sokolowska, Marie-Agnès Collonge-Rame, Alexandre Damette, Paul Gesta, Hakima Lallaoui, Jean Chiesa, Denise Molina-Gomes, Olivier Ingster, Sylvie Manouvrier-Hanu, Sophie Lejeune, Catherine Noguès, Lilian Laborde, Pauline Pontois, Dominique Stoppa-Lyonnet, Marion Gauthier-Villars, Bruno Buecher, Olivier Caron, Emmanuelle Mouret-Fourme, Jean-Pierre Fricker, Christine Lasset, Valérie Bonadona, Pascaline Berthet, Laurence Faivre, Elisabeth Luporsi, Marc Frénay, Laurence Gladieff, Paul Gesta, Hagay Sobol, François Eisinger, Jessica Moretta, Michel Longy, Catherine Dugast, Chrystelle Colas, Florent Soubrier, Isabelle Coupier, Pascal Pujol, Alain Lortholary, Philippe Vennin, Claude Adenis, Tan Dat Nguyen, Capucine Delnatte, Annick Rossi, Julie Tinat, Isabelle Tennevet, Jean-Marc Limacher, Christine Maugard, Yves-Jean Bignon, Liliane Demange, Hélène Dreyfus, Odile Cohen-Haguenauer, Brigitte Gilbert, Dominique Leroux, Hélène Zattara-Cannoni, Mines Paris - PSL (École nationale supérieure des mines de Paris), Université Paris Cité (UPCité), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Génétique et évolution des maladies infectieuses (GEMI), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud]), Malbec, Odile, and Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle (MIVEGEC)
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Risk ,Medicine (General) ,Databases, Factual ,Epidemiology ,Computer science ,[SDV]Life Sciences [q-bio] ,Breast Neoplasms ,Health Informatics ,computer.software_genre ,Cohort Studies ,03 medical and health sciences ,Record linkage ,R5-920 ,0302 clinical medicine ,Humans ,Genetic Predisposition to Disease ,Prospective Studies ,030212 general & internal medicine ,AdaBoost ,Supervised machine learning ,BRCA2 Protein ,Linkage (software) ,[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology ,Database ,BRCA1 Protein ,Random forest ,Support vector machine ,Identifier ,[SDV] Life Sciences [q-bio] ,Identification (information) ,Probabilistic linkage ,Hybrid process ,030220 oncology & carcinogenesis ,Mutation ,Mutation (genetic algorithm) ,Female ,computer ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology ,Research Article - Abstract
Background Linking independent sources of data describing the same individuals enable innovative epidemiological and health studies but require a robust record linkage approach. We describe a hybrid record linkage process to link databases from two independent ongoing French national studies, GEMO (Genetic Modifiers of BRCA1 and BRCA2), which focuses on the identification of genetic factors modifying cancer risk of BRCA1 and BRCA2 mutation carriers, and GENEPSO (prospective cohort of BRCAx mutation carriers), which focuses on environmental and lifestyle risk factors. Methods To identify as many as possible of the individuals participating in the two studies but not registered by a shared identifier, we combined probabilistic record linkage (PRL) and supervised machine learning (ML). This approach (named “PRL + ML”) combined together the candidate matches identified by both approaches. We built the ML model using the gold standard on a first version of the two databases as a training dataset. This gold standard was obtained from PRL-derived matches verified by an exhaustive manual review. Results The Random Forest (RF) algorithm showed a highest recall (0.985) among six widely used ML algorithms: RF, Bagged trees, AdaBoost, Support Vector Machine, Neural Network. Therefore, RF was selected to build the ML model since our goal was to identify the maximum number of true matches. Our combined linkage PRL + ML showed a higher recall (range 0.988–0.992) than either PRL (range 0.916–0.991) or ML (0.981) alone. It identified 1995 individuals participating in both GEMO (6375 participants) and GENEPSO (4925 participants). Conclusions Our hybrid linkage process represents an efficient tool for linking GEMO and GENEPSO. It may be generalizable to other epidemiological studies involving other databases and registries.
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- 2021
29. Variation in the Risk of Colorectal Cancer for Lynch Syndrome: A retrospective family 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, de Vargas, Aída Falcón, 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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Article - Abstract
BACKGROUND: Current clinical practice guidelines for carriers of pathogenic variants of DNA mismatch repair genes (Lynch syndrome) are based on the average age-specific cumulative risk (penetrance) of colorectal cancer for all carriers of pathogenic variants in the same gene. We aimed to estimate how much penetrance varies between carriers of pathogenic variants in the same gene by sex and continent of residence of the carrier. METHODS: We studied 79,809 relatives from 5,255 families, of at least three relatives, in which at least one was a confirmed carrier of a pathogenic or likely pathogenic variant in a mismatch repair gene (1,829 MLH1, 2,179 MSH2, 798 MSH6, 449 PMS2), recruited in 15 countries from North America, Europe and Australasia by the collaborative centres of the International Mismatch Repair Consortium. We used modified segregation analysis conditioned on ascertainment to estimate the average penetrance and modelled unmeasured polygenic factors to estimate the variation in penetrance of colorectal cancer. The existence of familial risk factors modifying colorectal cancer risk for Lynch syndrome carriers was tested using a Wald p-value for the null hypothesis that the polygenic standard deviation is zero. FINDINGS: There was strong evidence of the existence of familial risk factors modifying colorectal cancer risk for Lynch syndrome carriers (pT variant. The variation was more prominent for MLH1 and MSH2 variant carriers; depending on gene, sex, and continent, with 7–56% of carriers having a risk of colorectal cancer to age 80 of less than 20%, and 9–44% having a risk of more than 80%, while only 10–19% had a risk of 40–60%. INTERPRETATION: Our study findings highlight the important role of risk modifiers, which could lead to personalised risk assessment for precision prevention and early detection of colorectal cancer for Lynch syndrome.
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- 2021
30. Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization
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Brioude, Frederic, Netchine, Irène, Praz, Francoise, Le Jule, Marilyne, Calmel, Claire, Lacombe, Didier, Edery, Patrick, Catala, Martin, Odent, Sylvie, Isidor, Bertrand, Lyonnet, Stanislas, Sigaudy, Sabine, Leheup, Bruno, Audebert-Bellanger, Séverine, Burglen, Lydie, Giuliano, Fabienne, Alessandri, Jean-Luc, Cormier-Daire, Valérie, Laffargue, Fanny, Blesson, Sophie, Coupier, Isabelle, Lespinasse, James, Blanchet, Patricia, Boute, Odile, Baumann, Clarisse, Polak, Michel, Doray, Berenice, Verloes, Alain, Viot, Géraldine, Le Bouc, Yves, and Rossignol, Sylvie
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- 2015
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31. A germline mutation in PBRM1 predisposes to renal cell carcinoma
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Benusiglio, Patrick R, Couvé, Sophie, Gilbert-Dussardier, Brigitte, Deveaux, Sophie, Le Jeune, Hélène, Da Costa, Mélanie, Fromont, Gaëlle, Memeteau, Françoise, Yacoub, Mokrane, Coupier, Isabelle, Leroux, Dominique, Méjean, Arnaud, Escudier, Bernard, Giraud, Sophie, Gimenez-Roqueplo, Anne-Paule, Blondel, Christophe, Frouin, Eric, Teh, Bin T, Ferlicot, Sophie, Bressac-de Paillerets, Brigitte, Richard, Stéphane, and Gad, Sophie
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- 2015
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32. 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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33. No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives in BRCA1 or BRCA2 Mutation Families
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Imbert-Bouteille, Marion, primary, Corsini, Carole, additional, Picot, Marie-Christine, additional, Mizrahy, Lucas, additional, Akouete, Sandrine, additional, Huguet, Helena, additional, Thomas, Frédéric, additional, Geneviève, David, additional, Taourel, Patrice, additional, Ychou, Marc, additional, Galibert, Virginie, additional, Rideau, Chloé, additional, Baudry, Karen, additional, Kogut Kubiak, Tatiana, additional, Coupier, Isabelle, additional, Hobeika, Rémy, additional, Macary, Yvette, additional, Toledano, Alain, additional, Solassol, Jérôme, additional, Maalouf, Antoine, additional, Daures, Jean-Pierre, additional, and Pujol, Pascal, additional
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- 2021
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34. 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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35. 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. John, Porteous, Mary E., Brewer, Carole, Davidson, Rosemarie, Izatt, Louise, Brady, Angela, Barwell, Julian, Adlard, Julian, Foo, Claire, Lalloo, Fiona, Side, Lucy E., Eason, Jacqueline, Henderson, Alex, Walker, Lisa, Eeles, Rosalind A., Cook, Jackie, Snape, Katie, Eccles, Diana, Murray, Alex, McCann, Emma, Collée, J. Margriet, Conroy, Don M., Czene, Kamila, Daly, Mary B., Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Dörk, Thilo, dos-Santos-Silva, Isabel, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Eliassen, A. Heather, Engel, Christoph, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Flyger, Henrik, Fostira, Florentia, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M., Garber, Judy, Garcia-Barberan, Vanesa, García-Closas, Montserrat, García-Sáenz, José A., Gaudet, Mia M., Gayther, Simon A., Gehrig, Andrea, Georgoulias, Vassilios, Giles, Graham G., Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Greene, Mark H., Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hart, Steven N., He, Wei, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hopper, John L., Horcasitas, Darling J., Hulick, Peter J., Hunter, David J., Imyanitov, Evgeny N., Fox, Stephen, Campbell, Ian, Spurdle, Amanda, Webb, Penny, de Fazio, Anna, Tassell, Margaret, Kirk, Judy, Lindeman, Geoff, Price, Melanie, Southey, Melissa, Milne, Roger, Deb, Sid, Bowtell, David, van der Hout, Annemieke H., van den Ouweland, Ans M. W., Mensenkamp, Arjen R., van Deurzen, Carolien H. M., Kets, Carolien M., Seynaeve, Caroline, van Asperen, Christi J., Aalfs, Cora M., Gómez Garcia, Encarna B., van Leeuwen, Flora E., de Bock, G. H., Meijers-Heijboer, Hanne E. J., Obdeijn, Inge M., Gille, J. J. P., Oosterwijk, Jan C., Wijnen, Juul T., van der Kolk, Lizet E., Hooning, Maartje J., Ausems, Margreet G. E. M., Mourits, Marian J. E., Blok, Marinus J., Rookus, Matti A., van der Luijt, Rob B., van Cronenburg, T. C. T. E. F., van der Pol, Carmen C., Russell, Nicola S., Siesling, Sabine, Overbeek, Lucy, Wijnands, R., de Lange, Judith L., Clarke, Christine, Graham, Dinny, Sachchithananthan, Mythily, Marsh, Deborah, Scott, Rodney, Baxter, Robert, Yip, Desmond, Carpenter, Jane, Davis, Alison, Pathmanathan, Nirmala, Simpson, Peter, Jager, Agnes, Jakubowska, Anna, James, Paul A., Jensen, Uffe Birk, John, Esther M., Jones, Michael E., Kaaks, Rudolf, Kapoor, Pooja Middha, Karlan, Beth Y., Keeman, Renske, Khusnutdinova, Elza, Kiiski, Johanna I., Ko, Yon-Dschun, Kosma, Veli-Matti, Kraft, Peter, Kurian, Allison W., Laitman, Yael, Lambrechts, Diether, le Marchand, Loic, Lester, Jenny, Lesueur, Fabienne, Lindstrom, Tricia, Lopez-Fernández, Adria, Loud, Jennifer T., Luccarini, Craig, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Milne, Roger L., Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nielsen, Finn C., O’Brien, Katie M., Olopade, Olufunmilayo I., Olson, Janet E., Olsson, H. kan, Osorio, Ana, Ottini, Laura, Park-Simon, Tjoung-Won, Parsons, Michael T., Pedersen, Inge Sokilde, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Pharoah, Paul D. P., Phillips, Kelly-Anne, Polley, Eric C., Poppe, Bruce, Presneau, Nadege, Pujana, Miquel Angel, Punie, Kevin, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad U., Rennert, Gad, Rennert, Hedy S., Robson, Mark, Romero, Atocha, Rossing, Maria, Saloustros, Emmanouil, Sandler, Dale P., Santella, Regina, Scheuner, Maren T., Schmidt, Marjanka K., Schmidt, Gunnar, Scott, Christopher, Sharma, Priyanka, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Steinsnyder, Zoe, Stone, Jennifer, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Terry, Mary Beth, Teulé, Alex, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Torres, Diana, Trainer, Alison H., Truong, Thérèse, Tung, Nadine, Vachon, Celine M., Vega, Ana, Vijai, Joseph, Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wendt, Camilla, Wolk, Alicja, Yadav, Siddhartha, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Park, Sue K., Thomassen, Mads, Offit, Kenneth, Schmutzler, Rita K., Couch, Fergus J., Simard, Jacques, Chenevix-Trench, Georgia, Easton, Douglas F., Andrieu, Nadine, Antoniou, Antonis C., German Cancer Research Center, National Health and Medical Research Council (Australia), United States of Department of Health & Human Services, National Institute for Health Research (Reino Unido), French National Cancer Institute, Ligue Nationale Contre le Cancer (Francia), Cancer Research UK (Reino Unido), Unión Europea. Comisión Europea, Canadian Institutes of Health Research, Cancer Council New South Wales (Australia), KWF Kankerbestrijding, Instituto de Salud Carlos III, Xunta de Galicia (España), Ministerio de Sanidad, Política Social e Igualdad (España), Helmholtz Association, California Breast Cancer Research Program, Federal Ministry of Education & Research (Alemania), Government of Netherlands, Russian Foundation for Basic Research, O’Mara, Tracy A. [0000-0002-5436-3232], Dennis, Joe [0000-0003-4591-1214], Tyrer, Jonathan P. [0000-0003-3724-4757], Barnes, Daniel R. [0000-0002-3781-7570], Leslie, Goska [0000-0001-5756-6222], Ahearn, Thomas [0000-0003-0771-7752], Andrulis, Irene L. [0000-0002-4226-6435], Arndt, Volker [0000-0001-9320-8684], Azzollini, Jacopo [0000-0002-9364-9778], Barrowdale, Daniel [0000-0003-1661-3939], Becher, Heko [0000-0002-8808-6667], Bernstein, Leslie [0000-0002-7692-6518], Bojesen, Stig E. [0000-0002-4061-4133], Bonanni, Bernardo [0000-0003-3589-2128], Brauch, Hiltrud [0000-0001-7531-2736], Caldés, Trinidad [0000-0002-1038-5392], Chanock, Stephen J. [0000-0002-2324-3393], Chung, Wendy K. [0000-0003-3438-5685], Claes, Kathleen B. M. [0000-0003-0841-7372], Collée, J. Margriet [0000-0002-9272-9346], Devilee, Peter [0000-0002-8023-2009], Dörk, Thilo [0000-0002-9458-0282], Dunning, Alison M. [0000-0001-6651-7166], Dwek, Miriam [0000-0001-7184-2932], Eliassen, A. Heather [0000-0002-3961-6609], Fritschi, Lin [0000-0002-7692-3560], García-Closas, Montserrat [0000-0003-1033-2650], 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], Guénel, Pascal [0000-0002-8359-518X], Håkansson, Niclas [0000-0001-7673-5554], Hart, Steven N. [0000-0001-7714-2734], He, Wei [0000-0003-0161-3274], Hollestelle, Antoinette [0000-0003-1166-1966], Hulick, Peter J. [0000-0001-8397-4078], Jakubowska, Anna [0000-0002-5650-0501], James, Paul A. [0000-0002-4361-4657], Jensen, Uffe Birk [0000-0002-6205-6355], Jones, Michael E. [0000-0001-7479-3451], Kapoor, Pooja Middha [0000-0001-5503-8215], Keeman, Renske [0000-0002-5452-9933], Kraft, Peter [0000-0002-4472-8103], Kurian, Allison W. [0000-0002-6175-9470], Lambrechts, Diether [0000-0002-3429-302X], Lesueur, Fabienne [0000-0001-7404-4549], Martens, John W. M. [0000-0002-3428-3366], Miller, Austin [0000-0001-9739-8462], Milne, Roger L. [0000-0001-5764-7268], Nathanson, Katherine L. [0000-0002-6740-0901], Nevanlinna, Heli [0000-0002-0916-2976], Olopade, Olufunmilayo I. [0000-0002-9936-1599], Olson, Janet E. [0000-0003-4944-7789], Ottini, Laura [0000-0001-8030-0449], Parsons, Michael T. [0000-0003-3242-8477], Pedersen, Inge Sokilde [0000-0002-9902-8040], Peshkin, Beth [0000-0002-2997-4701], Peterlongo, Paolo [0000-0001-6951-6855], Peto, Julian [0000-0002-1685-8912], Pharoah, Paul D. P. [0000-0001-8494-732X], Punie, Kevin [0000-0002-1162-7963], Radice, Paolo [0000-0001-6298-4111], Rennert, Gad [0000-0002-8512-068X], Robson, Mark [0000-0002-3109-1692], Romero, Atocha [0000-0002-1634-7397], Saloustros, Emmanouil [0000-0002-0485-0120], Sandler, Dale P. [0000-0002-6776-0018], Schmidt, Marjanka K. [0000-0002-2228-429X], Scott, Christopher [0000-0003-1340-0647], Stone, Jennifer [0000-0001-5077-0124], Toland, Amanda E. [0000-0002-0271-1792], Truong, Thérèse [0000-0002-2943-6786], Vachon, Celine M. [0000-0002-1962-9322], Vega, Ana [0000-0002-7416-5137], Vijai, Joseph [0000-0002-7933-151X], Weitzel, Jeffrey N. [0000-0001-6714-092X], Wolk, Alicja [0000-0001-7387-6845], Yadav, Siddhartha [0000-0003-4630-9903], Yannoukakos, Drakoulis [0000-0001-7509-3510], Ziogas, Argyrios [0000-0003-4529-3727], Zorn, Kristin K. [0000-0003-2143-8979], Park, Sue K. [0000-0001-5002-9707], Simard, Jacques [0000-0001-6906-3390], Easton, Douglas F. [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
36. 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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37. 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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- 2021
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38. Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study
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Schrijver, Lieske H., Antoniou, Antonis C., Olsson, Hakan, Mooij, Thea M., Roos-Blom, Marie-Jose, Azarang, Leyla, Adlard, Julian, Ahmed, Munaza, Barrowdale, Daniel, Davidson, Rosemarie, Donaldson, Alan, Eeles, Ros, Evans, D. Gareth, Frost, Debra, Henderson, Alex, Izatt, Louise, Ong, Kai-Ren, Bonadona, Valerie, Coupier, Isabelle, Faivre, Laurence, Fricker, Jean-Pierre, Gesta, Paul, van Engelen, Klaartje, Jager, Agnes, Menko, Fred H., Mourits, Marian J. E., Singer, Christian F., Tan, Yen Y., Foretova, Lenka, Navratilova, Marie, Schmutzler, Rita K., Ellberg, Carolina, Gerdes, Anne-Marie, Caldes, Trinidad, Simard, Jacques, Olah, Edith, Jakubowska, Anna, Rantala, Johanna, Osorio, Ana, Hopper, John L., Phillips, Kelly-Anne, Milne, Roger L., Terry, Mary Beth, Nogues, Catherine, Engel, Christoph, Kast, Karin, Goldgar, David E., van Leeuwen, Flora E., Easton, Douglas F., Andrieu, Nadine, Rookus, Matti A., Schrijver, Lieske H., Antoniou, Antonis C., Olsson, Hakan, Mooij, Thea M., Roos-Blom, Marie-Jose, Azarang, Leyla, Adlard, Julian, Ahmed, Munaza, Barrowdale, Daniel, Davidson, Rosemarie, Donaldson, Alan, Eeles, Ros, Evans, D. Gareth, Frost, Debra, Henderson, Alex, Izatt, Louise, Ong, Kai-Ren, Bonadona, Valerie, Coupier, Isabelle, Faivre, Laurence, Fricker, Jean-Pierre, Gesta, Paul, van Engelen, Klaartje, Jager, Agnes, Menko, Fred H., Mourits, Marian J. E., Singer, Christian F., Tan, Yen Y., Foretova, Lenka, Navratilova, Marie, Schmutzler, Rita K., Ellberg, Carolina, Gerdes, Anne-Marie, Caldes, Trinidad, Simard, Jacques, Olah, Edith, Jakubowska, Anna, Rantala, Johanna, Osorio, Ana, Hopper, John L., Phillips, Kelly-Anne, Milne, Roger L., Terry, Mary Beth, Nogues, Catherine, Engel, Christoph, Kast, Karin, Goldgar, David E., van Leeuwen, Flora E., Easton, Douglas F., Andrieu, Nadine, and Rookus, Matti A.
- Abstract
Obstetrical complications, often referred to as the great obstetrical syndromes, are among the most common global causes of mortality and morbidity in young women and their infants. However, treatments for these syndromes are underdeveloped compared with other fields of medicine and are urgently needed. This current paucity of treatments for obstetrical complications is a reflection of the challenges of drug development in pregnancy. The appetite of pharmaceutical companies to invest in research for obstetrical syndromes is generally reduced by concerns for maternal, fetal, and infant safety, poor definition, and high-risk regulatory paths toward product approval. Notably, drug candidates require large investments for development with an unguaranteed return on investment. Furthermore, the discovery of promising drug candidates is hampered by a poor understanding of the pathophysiology of obstetrical syndromes and their uniqueness to human pregnancies. This limits translational extrapolation and de-risking strategies in preclinical studies, as available for other medical areas, compounded with limited fetal safety monitoring to capture early prenatal adverse reactions. In addition, the ethical review committees are reluctant to approve the inclusion of pregnant women in trials, and in the absence of regulatory guidance in obstetrics, clinical development programs are subject to unpredictable regulatory paths. To develop effective and safe drugs for pregnancy complications, substantial commitment, and investment in research for innovative therapies are needed in parallel with the creation of an enabling ethical, legislative, and guidance framework. Solutions are proposed to enable stakeholders to work with a common set of expectations to facilitate progress in this medical discipline. Addressing this significant unmet need to advance maternal and possibly perinatal health requires the involvement of all stakeholders and specifically patients, couples, and cli-nicians
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- 2021
39. Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers:an international cohort study
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Schrijver, Lieske H., Antoniou, Antonis C., Olsson, Håkan, Mooij, Thea M., Roos-Blom, Marie José, Azarang, Leyla, Adlard, Julian, Ahmed, Munaza, Barrowdale, Daniel, Davidson, Rosemarie, Donaldson, Alan, Eeles, Ros, Evans, D. Gareth, Frost, Debra, Henderson, Alex, Izatt, Louise, Ong, Kai Ren, Bonadona, Valérie, Coupier, Isabelle, Faivre, Laurence, Fricker, Jean Pierre, Gesta, Paul, van Engelen, Klaartje, Jager, Agnes, Menko, Fred H., Mourits, Marian J.E., Singer, Christian F., Tan, Yen Y., Foretova, Lenka, Navratilova, Marie, Schmutzler, Rita K., Ellberg, Carolina, Engel, Christoph, Andrieu, N, Rookus, Matti A., Schrijver, Lieske H., Antoniou, Antonis C., Olsson, Håkan, Mooij, Thea M., Roos-Blom, Marie José, Azarang, Leyla, Adlard, Julian, Ahmed, Munaza, Barrowdale, Daniel, Davidson, Rosemarie, Donaldson, Alan, Eeles, Ros, Evans, D. Gareth, Frost, Debra, Henderson, Alex, Izatt, Louise, Ong, Kai Ren, Bonadona, Valérie, Coupier, Isabelle, Faivre, Laurence, Fricker, Jean Pierre, Gesta, Paul, van Engelen, Klaartje, Jager, Agnes, Menko, Fred H., Mourits, Marian J.E., Singer, Christian F., Tan, Yen Y., Foretova, Lenka, Navratilova, Marie, Schmutzler, Rita K., Ellberg, Carolina, Engel, Christoph, Andrieu, N, and Rookus, Matti A.
- Abstract
Background: Ovarian cancer risk in BRCA1 and BRCA2 mutation carriers has been shown to decrease with longer duration of oral contraceptive use. Although the effects of using oral contraceptives in the general population are well established (approximately 50% risk reduction in ovarian cancer), the estimated risk reduction in mutation carriers is much less precise because of potential bias and small sample sizes. In addition, only a few studies on oral contraceptive use have examined the associations of duration of use, time since last use, starting age, and calendar year of start with risk of ovarian cancer. Objective: This study aimed to investigate in more detail the associations of various characteristics of oral contraceptive use and risk of ovarian cancer, to provide healthcare providers and carriers with better risk estimates. Study Design: In this international retrospective study, ovarian cancer risk associations were assessed using oral contraceptives data on 3989 BRCA1 and 2445 BRCA2 mutation carriers. Age-dependent–weighted Cox regression analyses were stratified by study and birth cohort and included breast cancer diagnosis as a covariate. To minimize survival bias, analyses were left truncated at 5 years before baseline questionnaire. Separate analyses were conducted for each aspect of oral contraceptive use and in a multivariate analysis, including all these aspects. In addition, the analysis of duration of oral contraceptive use was stratified by recency of use. Results: Oral contraceptives were less often used by mutation carriers who were diagnosed with ovarian cancer (ever use: 58.6% for BRCA1 and 53.5% BRCA2) than by unaffected carriers (ever use: 88.9% for BRCA1 and 80.7% for BRCA2). The median duration of use was 7 years for both BRCA1 and BRCA2 carriers who developed ovarian cancer and 9 and 8 years for unaffected BRCA1 and BRCA2 carriers with ovarian cancer, respectively. For BRCA1 mutation carriers, univariate analyses have shown that both
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- 2021
40. The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
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Lakeman, Inge M.M., van den Broek, Alexandra J., Vos, Juliën A.M., Barnes, Daniel R., Adlard, Julian, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Balmaña, Judith, Barrowdale, Daniel, Benitez, Javier, Borg, Ake, Caldés, Trinidad, Caligo, Maria A., Chung, Wendy K., Claes, Kathleen B.M., Barouk-Simonet, Emmanuelle, Belotti, Muriel, Berthet, Pascaline, Bignon, Yves Jean, Bonadona, Valérie, Bressac-de Paillerets, Brigitte, Buecher, Bruno, Caputo, Sandrine, Caron, Olivier, Castera, Laurent, Caux-Moncoutier, Virginie, Colas, Chrystelle, Collonge-Rame, Marie Agnès, Coupier, Isabelle, de Pauw, Antoine, Delnatte, Capucine, Elan, Camille, Faivre, Laurence, Ferrer, Sandra Fert, Gauthier-Villars, Marion, Gesta, Paul, Giraud, Sophie, Collée, J. Margriet, Engel, Christoph, Hooning, Maartje J., Robson, M, Schmidt, Marjanka K, Lakeman, Inge M.M., van den Broek, Alexandra J., Vos, Juliën A.M., Barnes, Daniel R., Adlard, Julian, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Balmaña, Judith, Barrowdale, Daniel, Benitez, Javier, Borg, Ake, Caldés, Trinidad, Caligo, Maria A., Chung, Wendy K., Claes, Kathleen B.M., Barouk-Simonet, Emmanuelle, Belotti, Muriel, Berthet, Pascaline, Bignon, Yves Jean, Bonadona, Valérie, Bressac-de Paillerets, Brigitte, Buecher, Bruno, Caputo, Sandrine, Caron, Olivier, Castera, Laurent, Caux-Moncoutier, Virginie, Colas, Chrystelle, Collonge-Rame, Marie Agnès, Coupier, Isabelle, de Pauw, Antoine, Delnatte, Capucine, Elan, Camille, Faivre, Laurence, Ferrer, Sandra Fert, Gauthier-Villars, Marion, Gesta, Paul, Giraud, Sophie, Collée, J. Margriet, Engel, Christoph, Hooning, Maartje J., Robson, M, and Schmidt, Marjanka K
- Abstract
Purpose: To evaluate the association between a previously published 313 variant–based breast cancer (BC) polygenic risk score (PRS313) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes. Methods: We included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS313 and CBC risk. Results: For BRCA1 heterozygotes the estrogen receptor (ER)-negative PRS313 showed the largest association with CBC risk, hazard ratio (HR) per SD = 1.12, 95% confidence interval (CI) (1.06–1.18), C-index = 0.53; for BRCA2 heterozygotes, this was the ER-positive PRS313, HR = 1.15, 95% CI (1.07–1.25), C-index = 0.57. Adjusting for family history, age at diagnosis, treatment, or pathological characteristics for the first BC did not change association effect sizes. For women developing first BC < age 40 years, the cumulative PRS313 5th and 95th percentile 10-year CBC risks were 22% and 32% for BRCA1 and 13% and 23% for BRCA2 heterozygotes, respectively. Conclusion: The PRS313 can be used to refine individual CBC risks for BRCA1/2 heterozygotes of European ancestry, however the PRS313 needs to be considered in the context of a multifactorial risk model to evaluate whether it might influence clinical decision-making.
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- 2021
41. Variation in breast cancer risk with mutation position, smoking, alcohol, and chest X-ray history, in the French National BRCA1/2 carrier cohort (GENEPSO)
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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
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- 2011
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42. High Prevalence of Somatic Oncogenic Driver Alterations in Patients With NSCLC and Li-Fraumeni Syndrome
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Mezquita, Laura, Jové, Maria, Nadal, Ernest, Kfoury, Maria, Morán, Teresa, Ricordel, Charles, Dhooge, Marion, Tlemsani, Camille, Léna, Hervé, Teulé, Alex, Álvarez, Jose-Valero, Raimbourg, Judith, Hiret, Sandrine, Lacroix, Ludovic, Menéndez, Mireia, Saldaña, Juana, Brunet, Joan, Lianes, Pilar, Coupier, Isabelle, Auclin, Edouard, Recondo, Gonzalo, Friboulet, Luc, Adam, Julien, Green, Emma, Planchard, David, Frébourg, Thierry, Capellà, Gabriel, Rouleau, Etienne, Lázaro, Conxi, Caron, Olivier, and Besse, Benjamin
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- 2020
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43. Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome
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Golmard, Lisa, primary, Vasta, Lauren M, additional, Duflos, Valérie, additional, Corsini, Carole, additional, Dubois d'Enghien, Catherine, additional, McMaster, Mary L, additional, Harney, Laura A, additional, Carr, Ann G, additional, Ling, Alexander, additional, Dijoud, Frédérique, additional, Gauthier, Arnaud, additional, Miettinen, Markku, additional, Cost, Nicholas G, additional, Gauthier-Villars, Marion, additional, Orbach, Daniel, additional, Irtan, Sabine, additional, Haouy, Stéphanie, additional, Schultz, Kris Ann, additional, Stoppa-Lyonnet, Dominique, additional, Coupier, Isabelle, additional, Stewart, Douglas R, additional, and Sirvent, Nicolas, additional
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- 2021
- Full Text
- View/download PDF
44. Brief report: High prevalence of somatic oncogenic driver alterations in non-small cell lung cancer patients with Li-Fraumeni Syndrome
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Mezquita, Laura, Jove, Maria, Nadal, Ernest, Kfoury, Maria, Morán, Teresa, Ricordel, Charles, Dhooge, Marion, Tlemsani, Camille, Lena, Hervé, Teulé, Alex, Álvarez, Jose-Valero, Raimbourg, Judith, Hiret, Sandrine, Pharma, Ludovic Lacroix, Menéndez, Mireia, Saldaña, Juana, Brunet, Joan, Lianes, Pilar, Coupier, Isabelle, Auclin, Édouard, Recondo, Gonzalo, Friboulet, Luc, Adam, Julien, Green, Emma, Planchard, David, Frebourg, Thierry, Capellà, Gabriel, Rouleau, Etienne, Lazaro, Conxi, Caron, Olivier, Besse, Benjamin, Institut Gustave Roussy (IGR), Universitat Autònoma de Barcelona (UAB), Chemistry, Oncogenesis, Stress and Signaling (COSS), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-CRLCC Eugène Marquis (CRLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pontchaillou [Rennes], Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Cancérologie de l'Ouest [Angers/Nantes] (UNICANCER/ICO), UNICANCER, Unité d'Oncogénétique, CRLCC Val d'Aurelle - Paul Lamarque, Prédicteurs moléculaires et nouvelles cibles en oncologie (PMNCO), Institut Gustave Roussy (IGR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Onco-génétique, Département de médecine oncologique [Gustave Roussy], Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), AbbVie, Pfizer, European Society for Medical Oncology, Boehringer Ingelheim, 2017SGR496, Generalitat de Catalunya, Takeda, ADACAP, Merck, Gustave Roussy Cancer Center, Nektar, Sanofi, Onxeo, National Health Institute, Bristol-Myers Squibb, International Association for the Study of Lung Cancer, Roche, Ignyta, Celgene, Merck KGaA, PharmaMar, Taiho Pharmaceutical, AstraZeneca, Novocure, Novartis, Les Laboratories Pierre Fabre, Amgen, PI16/00563, Federación Española de Enfermedades Raras, Spectrum Pharmaceuticals, Ipsen, Biogen, Merck Sharp and Dohme, MedImmune, Eli Lilly and Company, and Université de Rennes (UR)-CRLCC Eugène Marquis (CRLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)
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Germline TP53 mutation ,ROS1 fusion ,Somatic driver alteration ,[SDV.CAN]Life Sciences [q-bio]/Cancer ,Li-Fraumeni syndrome ,EGFR mutation ,NSCLC - Abstract
International audience; Introduction - Actionable somatic molecular alterations are found in 15% to 20% of NSCLC in Europe. NSCLC is a tumor observed in patients with germline TP53 variants causing Li-Fraumeni syndrome (LFS), but its somatic molecular profile is unknown. Methods - Retrospective study of clinical and molecular profiles of patients with NSCLC and germline TP53 variants. Results - Among 22 patients with NSCLC and LFS (n = 23 lung tumors), 64% were women, median age was 51 years, 84% were nonsmokers, 73% had adenocarcinoma histological subtype, and 84% were diagnosed with advanced-stage disease. These patients harbored 16 distinct germline TP53 variants; the most common was p.R158H (5/22; three in the same family). Personal and family histories of cancer were reported in 71% and 90% of patients, respectively. In most cases (87%, 13/15), lung cancer was diagnosed with a late onset. Of the 21 tumors analyzed, somatic oncogenic driver mutations were found in 19 of 21 (90%), EGFR mutations in 18 (exon 19 deletion in 12 cases, L858R in three cases, and G719A, exon 20 insertion, and missing mutation subtype, each with one case), and ROS1 fusion in one case. A PI3KCA mutation was concurrently detected at diagnosis in three EGFR exon 19-deleted tumors (3/12). The median overall survival was 37.3 months in 14 patients treated with EGFR inhibitors; seven developed resistance, five (71%) acquired EGFR-T790M mutation, and one had SCLC transformation. Conclusions - Driver oncogenic alterations were observed in 90% of the LFS tumors, mainly EGFR mutations; one ROS1 fusion was also observed. The germline TP53 variants and lung cancer carcinogenesis driven by oncogenic processes need further evaluation.
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- 2020
45. Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers
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Mavaddat, Nasim, Antoniou, Antonis C., Mooij, Thea M., Hooning, Maartje J., Heemskerk-Gerritsen, Bernadette A., Noguès, Catherine, Gauthier-Villars, Marion, Caron, Olivier, Gesta, Paul, Pujol, Pascal, Lortholary, Alain, Barrowdale, Daniel, Frost, Debra, Evans, D. Gareth, Izatt, Louise, Adlard, Julian, Eeles, Ros, Brewer, Carole, Tischkowitz, Marc, Henderson, Alex, Cook, Jackie, Eccles, Diana, van Engelen, Klaartje, Mourits, Marian J. E., Ausems, Margreet G. E. M., Koppert, Linetta B., Hopper, John L., John, Esther M., Chung, Wendy K., Andrulis, Irene L., Daly, Mary B., Buys, Saundra S., Benitez, Javier, Caldes, Trinidad, Jakubowska, Anna, Simard, Jacques, Singer, Christian F., Tan, Yen, Olah, Edith, Navratilova, Marie, Foretova, Lenka, Gerdes, Anne-Marie, Roos-Blom, Marie-José, Van Leeuwen, Flora E., Arver, Brita, Olsson, Håkan, Schmutzler, Rita K., Engel, Christoph, Kast, Karin, Phillips, Kelly-Anne, Terry, Mary Beth, Milne, Roger L., Goldgar, David E., Rookus, Matti A., Andrieu, Nadine, Easton, Douglas F., Laborde, Lilian, Breysse, Emmanuel, Stoppa-Lyonnet, Dominique, Buecher, Bruno, Fourme-Mouret, Emmanuelle, Fricker, Jean-Pierre, Lasset, Christine, Bonadona, Valérie, Berthet, Pascaline, Faivre, Laurence, Luporsi, Elisabeth, Mari, Véronique, Gladieff, Laurence, Sobol, Hagay, Eisinger, François, Longy, Michel, Dugast, Catherine, Colas, Chrystelle, Coupier, Isabelle, Corsini, Carole, Vennin, Philippe, Adenis, Claude, Nguyen, Tan Dat, Delnatte, Capucine, Tinat, Julie, Tennevet, Isabelle, Limacher, Jean-Marc, Maugard, Christine, Bignon, Yves-Jean, Demange, Liliane, Penet, Clotilde, Dreyfus, Hélène, Cohen-Haguenauer, Odile, Venat-Bouvet, Laurence, Leroux, Dominique, Zattara-Cannoni, Hélène, Fert-Ferrer, Sandra, Bera, Odile, Ellis, Steve, Hogervorst, F. B. L., Collée, J. M., van Asperen, C. J., Mensenkamp, A. R., Ausems, M. G. E. M., Meijers-Heijboer, H. E. J., van Engelen, K., Blok, M. J., Oosterwijk, J. C., Verloop, J., van den Broek, E., Mavaddat, Nasim [0000-0003-0307-055X], and Apollo - University of Cambridge Repository
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Risk-reducing salpingo-oophorectomy ,Breast cancer ,endocrine system diseases ,Mutation ,skin and connective tissue diseases ,BRCA1 ,BRCA2 ,Research Article - Abstract
Background: The effect of risk-reducing salpingo-oophorectomy (RRSO) on breast cancer risk for BRCA1 and BRCA2 mutation carriers is uncertain. Retrospective analyses have suggested a protective effect but may be substantially biased. Prospective studies have had limited power, particularly for BRCA2 mutation carriers. Further, previous studies have not considered the effect of RRSO in the context of natural menopause. Methods: A multi-centre prospective cohort of 2272 BRCA1 and 1605 BRCA2 mutation carriers was followed for a mean of 5.4 and 4.9 years, respectively; 426 women developed incident breast cancer. RRSO was modelled as a time-dependent covariate in Cox regression, and its effect assessed in premenopausal and postmenopausal women. Results: There was no association between RRSO and breast cancer for BRCA1 (HR = 1.23; 95% CI 0.94–1.61) or BRCA2 (HR = 0.88; 95% CI 0.62–1.24) mutation carriers. For BRCA2 mutation carriers, HRs were 0.68 (95% CI 0.40–1.15) and 1.07 (95% CI 0.69–1.64) for RRSO carried out before or after age 45 years, respectively. The HR for BRCA2 mutation carriers decreased with increasing time since RRSO (HR = 0.51; 95% CI 0.26–0.99 for 5 years or longer after RRSO). Estimates for premenopausal women were similar. Conclusion: We found no evidence that RRSO reduces breast cancer risk for BRCA1 mutation carriers. A potentially beneficial effect for BRCA2 mutation carriers was observed, particularly after 5 years following RRSO. These results may inform counselling and management of carriers with respect to RRSO.
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- 2020
46. RAD51 135G C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies
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Antoniou, Antonis C., Sinilnikova, Olga M., Simard, Jacques, Leone, Melanie, Dumont, Martine, Neuhausen, Susan L., Struewing, Jeffery P., Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Hughes, David J., Coupier, Isabelle, Belotti, Muriel, Lasset, Christine, Bonadona, Valerie, Bignon, Yves-Jean, Rebbeck, Timothy R., Wagner, Theresa, Lynch, Henry T., Domchek, Susan M., Nathanson, Katherine L., Garber, Judy E., Weitzel, Jeffrey, Narod, Steven A., Tomlinson, Gail, and Godwin, Andrew
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Breast cancer -- Genetic aspects ,Breast cancer -- Risk factors ,Mutation (Biology) -- Research ,Polymerase chain reaction -- Usage ,Biological sciences - Abstract
The article examines RAD51 135 G C polymorphism (rs1801320) with breast cancer risk among BRCA2 female mutation carriers from 19 studies. RAD51 gene is found to be reliable as a modifier of risk among BRCA2 mutation carriers.
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- 2007
47. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
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Fachal, Laura, Aschard, Hugues, Beesley, Jonathan, Barnes, Daniel R., Allen, Jamie, Kar, Siddhartha, Pooley, Karen A., Dennis, Joe, Michailidou, Kyriaki, Turman, Constance, Soucy, Penny, Lemacon, Audrey, Lush, Michael, Tyrer, Jonathan P., Ghoussaini, Maya, Marjaneh, Mahdi Moradi, Jiang, Xia, Agata, Simona, Aittomaki, Kristiina, Rosario Alonso, M., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arason, Adalgeir, Arndt, Volker, Aronson, Kristan J., Arun, Banu K., Auber, Bernd, Auer, Paul L., Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blanco, Amie M., Blomqvist, Carl, Blot, William, Bogdanova, Natalia, V, Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Borg, Ake, Bosse, Kristin, Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Brock, Ian W., Brooks-Wilson, Angela, Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Cai, Qiuyin, Caldes, Trinidad, Caligo, Maria A., Camp, Nicola J., Campbell, Ian, Canzian, Federico, Carroll, Jason S., Carter, Brian D., Castelao, Jose E., Chiquette, Jocelyne, Christiansen, Hans, Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Collee, J. Margriet, Cornelissen, Sten, Couch, Fergus J., Cox, Angela, Cross, Simon S., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S., Domchek, Susan M., Doerk, Thilo, dos-Santos-Silva, Isabel, Droit, Arnaud, Dubois, Stephane, Dumont, Martine, Duran, Mercedes, Durcan, Lorraine, Dwek, Miriam, Eccles, Diana M., Engel, Christoph, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Fletcher, Olivia, Floris, Giuseppe, Flyger, Henrik, Foretova, Lenka, Foulkes, William D., Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Gago-Dominguez, Manuela, Gambino, Gaetana, Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Garcia-Saenz, Jose A., Gaudet, Mia M., Georgoulias, Vassilios, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Tibiletti, Maria Grazia, Greene, Mark H., Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Guenel, Pascal, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hartikainen, Jaana M., Hartman, Mikael, He, Wei, Healey, Catherine S., Heemskerk-Gerritsen, Bernadette A. M., Heyworth, Jane, Hillemanns, Peter, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hopper, John L., Howell, Anthony, Huang, Guanmengqian, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Iwasaki, Motoki, Jager, Agnes, Jakimovska, Milena, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jankowitz, Rachel C., John, Esther M., Johnson, Nichola, Jones, Michael E., Jukkola-Vuorinen, Arja, Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Kapoor, Pooja Middha, Karlan, Beth Y., Keeman, Renske, Kerin, Michael J., Khusnutdinova, Elza, Kiiski, Johanna, I, Kirk, Judy, Kitahara, Cari M., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Koutros, Stella, Kubelka-Sabit, Katerina, Kwong, Ava, Kyriacou, Kyriacos, Laitman, Yael, Lambrechts, Diether, Lee, Eunjung, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Lindblom, Annika, Lo, Wing-Yee, Long, Jirong, Lophatananon, Artitaya, Loud, Jennifer T., Lubinski, Jan, MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Matsuo, Keitaro, Maurer, Tabea, Mavroudis, Dimitrios, Mayes, Rebecca, McGuffog, Lesley, McLean, Catriona, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Miller, Nicola, Montagna, Marco, Moreno, Fernando, Muir, Kenneth, Mulligan, Anna Marie, Munoz-Garzon, Victor M., Muranen, Taru A., Narod, Steven A., Nassir, Rami, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nielsen, Finn C., Nikitina-Zake, Liene, Norman, Aaron, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olsson, Hakan, Orr, Nick, Osorio, Ana, Pankratz, V. Shane, Papp, Janos, Park, Sue K., Park-Simon, Tjoung-Won, Parsons, Michael T., Paul, James, Pedersen, Inge Sokilde, Peissel, Bernard, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Prajzendanc, Karolina, Prentice, Ross, Presneau, Nadege, Prokofyeva, Darya, Angel Pujana, Miquel, Pylkas, Katri, Radice, Paolo, Ramus, Susan J., Rantala, Johanna, Rau-Murthy, Rohini, Rennert, Gad, Risch, Harvey A., Robson, Mark, Romero, Atocha, Rossing, Maria, Saloustros, Emmanouil, Sanchez-Herrero, Estela, Sandler, Dale P., Santamarina, Marta, Saunders, Christobel, Sawyer, Elinor J., Scheuner, Maren T., Schmidt, Daniel F., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schoettker, Ben, Schuermann, Peter, Scott, Christopher, Scott, Rodney J., Senter, Leigha, Seynaeve, Caroline M., Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Shu, Xiao-Ou, Singer, Christian F., Slavin, Thomas P., Smichkoska, Snezhana, Southey, Melissa C., Spinelli, John J., Spurdle, Amanda B., Stone, Jennifer, Stoppa-Lyonnet, Dominique, Sutter, Christian, Swerdlow, Anthony J., Tamimi, Rulla M., Tan, Yen Yen, Tapper, William J., Taylor, Jack A., Teixeira, Manuel R., Tengstroem, Maria, Teo, Soo Hwang, Terry, Mary Beth, Teul, Alex, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Tollenaar, Rob A. E. M., Tomlinson, Ian, Torres, Diana, Torres-Mejia, Gabriela, Troester, Melissa A., Truong, Therese, Tung, Nadine, Tzardi, Maria, Ulmer, Hans-Ulrich, Vachon, Celine M., van Asperen, Christi J., van der Kolk, Lizet E., van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra, Vijai, Joseph, Vogel, Maartje J., Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wendt, Camilla, Wildiers, Hans, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Yannoukakos, Drakoulis, Zhang, Yan, Zheng, Wei, Hunter, David, Pharoah, Paul D. P., Chang-Claude, Jenny, Garcia-Closas, Montserrat, Schmidt, Marjanka K., Milne, Roger L., Kristensen, Vessela N., French, Juliet D., Edwards, Stacey L., Antoniou, Antonis C., Chenevix-Trench, Georgia, Simard, Jacques, Easton, Douglas F., Kraft, Peter, Dunning, Alison M., Mari, Veronique, Berthet, Pascaline, Castera, Laurent, Vaur, Dominique, Lallaoui, Hakima, Bignon, Yves-Jean, Uhrhammer, Nancy, Bonadona, Valerie, Lasset, Christine, Revillion, Francoise, Vennin, Paul, Muller, Daniele, Gomes, Denise Molina, Ingster, Olivier, Coupier, Isabelle, Pujol, Pascal, Collonge-Rame, Marie-Agnes, Mortemousque, Isabelle, Bera, Odile, Rose, Mickaelle, Baurand, Amandine, Bertolone, Geoffrey, Faivre, Laurence, Dreyfus, Hlne, Leroux, Dominique, Venat-Bouvet, Laurence, Bezieau, Stephane, Delnatte, Capucine, Chiesa, Jean, Gilbert-Dussardier, Brigitte, Gesta, Paul, Prieur, Fabienne Prieur, Bronner, Myriam, Sokolowska, Johanna, Coulet, Florence, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Leone, Melanie, Fert-Ferrer, Sandra, Jiao, Yue, Lesueur, Fabienne Lesueur, Barouk-Simonet, Emmanuelle, Bubien, Virginie, Longy, Michel, Sevenet, Nicolas, Gladieff, Laurence, Toulas, Christine, Reimineras, Audrey, Sobol, Hagay, Bressac-de Paillerets, Brigitte, Cabaret, Odile, Caron, Olivier, Guillaud-Bataille, Marine, Rouleau, Etienne, Belotti, Muriel, Buecher, Bruno, Caputo, Sandrine, Colas, Chrystelle, De Pauw, Antoine, Fourme, Emmanuelle, Gauthier-Villars, Marion, Golmard, Lisa, Moncoutier, Virginie, Saule, Claire, Donaldson, Alan, Murray, Alex, Brady, Angela, Brewer, Carole, Pottinger, Caroline, Miller, Clare, Gallagher, David, Gregory, Helen, Cook, Jackie, Eason, Jacqueline, Adlard, Julian, Barwell, Julian, Ong, Kai-Ren, Snape, Katie, Walker, Lisa, Izatt, Louise, Side, Lucy, Rogers, Mark T., Porteous, Mary E., Ahmed, Munaza, Morrison, Patrick J., Brennan, Paul, Eeles, Ros, Davidson, Rosemarie, Sexton, Adrienne, Christian, Alice, Trainer, Alison, Spigelman, Allan, Fellows, Andrew, Shelling, Andrew, De Fazio, Anna, Blackburn, Anneke, Crook, Ashley, Meiser, Bettina, Patterson, Briony, Clarke, Christine, Hunt, Clare, Scott, Clare, Amor, David, Marsh, Deb, Edkins, Edward, Salisbury, Elizabeth, Haan, Eric, Neidermayr, Eveline, Macrea, Finlay, Farshid, Gelareh, Lindeman, Geoff, Trench, Georgia, Mann, Graham, Giles, Graham, Gill, Grantley, Thorne, Heather, Hickie, Ian, Winship, Ingrid, Flanagan, James, Kollias, James, Visvader, Jane, Taylor, Jessica, Burke, Jo, Saunus, Jodi, Forbes, John, Hopper, John, French, Juliet, Tucker, Kathy, Wu, Kathy, Phillips, Kelly, Lipton, Lara, Andrews, Leslie, Lobb, Lizz, Walker, Logan, Kentwell, Maira, Spurdle, Mandy, Cummings, Margaret, Gleeson, Margaret, Harris, Marion, Jenkins, Mark, Young, Mary Anne, Delatycki, Martin, Wallis, Mathew, Burgess, Matthew, Price, Melanie, Brown, Melissa, Southey, Melissa, Bogwitz, Michael, Field, Michael, Friedlander, Michael, Gattas, Michael, Saleh, Mona, Hayward, Nick, Pachter, Nick, Cohen, Paul, Duijf, Pascal, James, Paul, Simpson, Pete, Fong, Peter, Butow, Phyllis, Williams, Rachael, Kefford, Rick, Scott, Rodney, Milne, Roger, Balleine, Rosemary, Dawson, SarahJane, Lok, Sheau, O'Connell, Shona, Greening, Sian, Nightingale, Sophie, Edwards, Stacey, Fox, Stephen, Mclachlan, Sue-Anne, Lakhani, Sunil, Antill, Yoland, Aalfs, Cora, Meijers-Heijboer, Hanne, van Engelen, Klaartje, Gille, Hans, Boere, Ingrid, Collee, Margriet, van Deurzen, Carolien, Hooning, Maartje, Obdeijn, Inge-Marie, van den Ouweland, Ans, Seynaeve, Caroline, Siesling, Sabine, Verloop, Janneke, van Asperen, Christi, van Cronenburg, Twiggy, Blok, Rien, de Boer, Maaike, Garcia, Encarna Gomez, Adank, Muriel, Hogervorst, Frans, Jenner, Denise, van Leeuwen, Flora, Rookus, Matti, Russell, Nicola, Schmidt, Marjanka, van den Belt-Dusebout, Sandra, Kets, Carolien, Mensenkamp, Arjen, de Bock, Truuske, van Der Hout, Annemieke, Mourits, Marian, Oosterwijk, Jan, Ausems, Margreet, Koudijs, Marco, Marsh, Deborah, Baxter, Robert, Yip, Desmond, Carpenter, Jane, Davis, Alison, Pathmanathan, Nirmala, Simpson, Peter, Graham, Dinny, Sachchithananthan, Mythily, Fachal, Laura, Aschard, Hugues, Beesley, Jonathan, Barnes, Daniel R., Allen, Jamie, Kar, Siddhartha, Pooley, Karen A., Dennis, Joe, Michailidou, Kyriaki, Turman, Constance, Soucy, Penny, Lemacon, Audrey, Lush, Michael, Tyrer, Jonathan P., Ghoussaini, Maya, Marjaneh, Mahdi Moradi, Jiang, Xia, Agata, Simona, Aittomaki, Kristiina, Rosario Alonso, M., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arason, Adalgeir, Arndt, Volker, Aronson, Kristan J., Arun, Banu K., Auber, Bernd, Auer, Paul L., Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blanco, Amie M., Blomqvist, Carl, Blot, William, Bogdanova, Natalia, V, Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Borg, Ake, Bosse, Kristin, Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Brock, Ian W., Brooks-Wilson, Angela, Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Cai, Qiuyin, Caldes, Trinidad, Caligo, Maria A., Camp, Nicola J., Campbell, Ian, Canzian, Federico, Carroll, Jason S., Carter, Brian D., Castelao, Jose E., Chiquette, Jocelyne, Christiansen, Hans, Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Collee, J. Margriet, Cornelissen, Sten, Couch, Fergus J., Cox, Angela, Cross, Simon S., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S., Domchek, Susan M., Doerk, Thilo, dos-Santos-Silva, Isabel, Droit, Arnaud, Dubois, Stephane, Dumont, Martine, Duran, Mercedes, Durcan, Lorraine, Dwek, Miriam, Eccles, Diana M., Engel, Christoph, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Fletcher, Olivia, Floris, Giuseppe, Flyger, Henrik, Foretova, Lenka, Foulkes, William D., Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Gago-Dominguez, Manuela, Gambino, Gaetana, Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Garcia-Saenz, Jose A., Gaudet, Mia M., Georgoulias, Vassilios, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Tibiletti, Maria Grazia, Greene, Mark H., Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Guenel, Pascal, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hartikainen, Jaana M., Hartman, Mikael, He, Wei, Healey, Catherine S., Heemskerk-Gerritsen, Bernadette A. M., Heyworth, Jane, Hillemanns, Peter, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hopper, John L., Howell, Anthony, Huang, Guanmengqian, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Iwasaki, Motoki, Jager, Agnes, Jakimovska, Milena, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jankowitz, Rachel C., John, Esther M., Johnson, Nichola, Jones, Michael E., Jukkola-Vuorinen, Arja, Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Kapoor, Pooja Middha, Karlan, Beth Y., Keeman, Renske, Kerin, Michael J., Khusnutdinova, Elza, Kiiski, Johanna, I, Kirk, Judy, Kitahara, Cari M., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Koutros, Stella, Kubelka-Sabit, Katerina, Kwong, Ava, Kyriacou, Kyriacos, Laitman, Yael, Lambrechts, Diether, Lee, Eunjung, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Lindblom, Annika, Lo, Wing-Yee, Long, Jirong, Lophatananon, Artitaya, Loud, Jennifer T., Lubinski, Jan, MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Matsuo, Keitaro, Maurer, Tabea, Mavroudis, Dimitrios, Mayes, Rebecca, McGuffog, Lesley, McLean, Catriona, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Miller, Nicola, Montagna, Marco, Moreno, Fernando, Muir, Kenneth, Mulligan, Anna Marie, Munoz-Garzon, Victor M., Muranen, Taru A., Narod, Steven A., Nassir, Rami, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nielsen, Finn C., Nikitina-Zake, Liene, Norman, Aaron, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olsson, Hakan, Orr, Nick, Osorio, Ana, Pankratz, V. 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P., Chang-Claude, Jenny, Garcia-Closas, Montserrat, Schmidt, Marjanka K., Milne, Roger L., Kristensen, Vessela N., French, Juliet D., Edwards, Stacey L., Antoniou, Antonis C., Chenevix-Trench, Georgia, Simard, Jacques, Easton, Douglas F., Kraft, Peter, Dunning, Alison M., Mari, Veronique, Berthet, Pascaline, Castera, Laurent, Vaur, Dominique, Lallaoui, Hakima, Bignon, Yves-Jean, Uhrhammer, Nancy, Bonadona, Valerie, Lasset, Christine, Revillion, Francoise, Vennin, Paul, Muller, Daniele, Gomes, Denise Molina, Ingster, Olivier, Coupier, Isabelle, Pujol, Pascal, Collonge-Rame, Marie-Agnes, Mortemousque, Isabelle, Bera, Odile, Rose, Mickaelle, Baurand, Amandine, Bertolone, Geoffrey, Faivre, Laurence, Dreyfus, Hlne, Leroux, Dominique, Venat-Bouvet, Laurence, Bezieau, Stephane, Delnatte, Capucine, Chiesa, Jean, Gilbert-Dussardier, Brigitte, Gesta, Paul, Prieur, Fabienne Prieur, Bronner, Myriam, Sokolowska, Johanna, Coulet, Florence, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Leone, Melanie, Fert-Ferrer, Sandra, Jiao, Yue, Lesueur, Fabienne Lesueur, Barouk-Simonet, Emmanuelle, Bubien, Virginie, Longy, Michel, Sevenet, Nicolas, Gladieff, Laurence, Toulas, Christine, Reimineras, Audrey, Sobol, Hagay, Bressac-de Paillerets, Brigitte, Cabaret, Odile, Caron, Olivier, Guillaud-Bataille, Marine, Rouleau, Etienne, Belotti, Muriel, Buecher, Bruno, Caputo, Sandrine, Colas, Chrystelle, De Pauw, Antoine, Fourme, Emmanuelle, Gauthier-Villars, Marion, Golmard, Lisa, Moncoutier, Virginie, Saule, Claire, Donaldson, Alan, Murray, Alex, Brady, Angela, Brewer, Carole, Pottinger, Caroline, Miller, Clare, Gallagher, David, Gregory, Helen, Cook, Jackie, Eason, Jacqueline, Adlard, Julian, Barwell, Julian, Ong, Kai-Ren, Snape, Katie, Walker, Lisa, Izatt, Louise, Side, Lucy, Rogers, Mark T., Porteous, Mary E., Ahmed, Munaza, Morrison, Patrick J., Brennan, Paul, Eeles, Ros, Davidson, Rosemarie, Sexton, Adrienne, Christian, Alice, Trainer, Alison, Spigelman, Allan, Fellows, Andrew, Shelling, Andrew, De Fazio, Anna, Blackburn, Anneke, Crook, Ashley, Meiser, Bettina, Patterson, Briony, Clarke, Christine, Hunt, Clare, Scott, Clare, Amor, David, Marsh, Deb, Edkins, Edward, Salisbury, Elizabeth, Haan, Eric, Neidermayr, Eveline, Macrea, Finlay, Farshid, Gelareh, Lindeman, Geoff, Trench, Georgia, Mann, Graham, Giles, Graham, Gill, Grantley, Thorne, Heather, Hickie, Ian, Winship, Ingrid, Flanagan, James, Kollias, James, Visvader, Jane, Taylor, Jessica, Burke, Jo, Saunus, Jodi, Forbes, John, Hopper, John, French, Juliet, Tucker, Kathy, Wu, Kathy, Phillips, Kelly, Lipton, Lara, Andrews, Leslie, Lobb, Lizz, Walker, Logan, Kentwell, Maira, Spurdle, Mandy, Cummings, Margaret, Gleeson, Margaret, Harris, Marion, Jenkins, Mark, Young, Mary Anne, Delatycki, Martin, Wallis, Mathew, Burgess, Matthew, Price, Melanie, Brown, Melissa, Southey, Melissa, Bogwitz, Michael, Field, Michael, Friedlander, Michael, Gattas, Michael, Saleh, Mona, Hayward, Nick, Pachter, Nick, Cohen, Paul, Duijf, Pascal, James, Paul, Simpson, Pete, Fong, Peter, Butow, Phyllis, Williams, Rachael, Kefford, Rick, Scott, Rodney, Milne, Roger, Balleine, Rosemary, Dawson, SarahJane, Lok, Sheau, O'Connell, Shona, Greening, Sian, Nightingale, Sophie, Edwards, Stacey, Fox, Stephen, Mclachlan, Sue-Anne, Lakhani, Sunil, Antill, Yoland, Aalfs, Cora, Meijers-Heijboer, Hanne, van Engelen, Klaartje, Gille, Hans, Boere, Ingrid, Collee, Margriet, van Deurzen, Carolien, Hooning, Maartje, Obdeijn, Inge-Marie, van den Ouweland, Ans, Seynaeve, Caroline, Siesling, Sabine, Verloop, Janneke, van Asperen, Christi, van Cronenburg, Twiggy, Blok, Rien, de Boer, Maaike, Garcia, Encarna Gomez, Adank, Muriel, Hogervorst, Frans, Jenner, Denise, van Leeuwen, Flora, Rookus, Matti, Russell, Nicola, Schmidt, Marjanka, van den Belt-Dusebout, Sandra, Kets, Carolien, Mensenkamp, Arjen, de Bock, Truuske, van Der Hout, Annemieke, Mourits, Marian, Oosterwijk, Jan, Ausems, Margreet, Koudijs, Marco, Marsh, Deborah, Baxter, Robert, Yip, Desmond, Carpenter, Jane, Davis, Alison, Pathmanathan, Nirmala, Simpson, Peter, Graham, Dinny, and Sachchithananthan, Mythily
- Abstract
Fine-mapping of causal variants and integration of epigenetic and chromatin conformation data identify likely target genes for 150 breast cancer risk regions. Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants in each one. In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium and enriched genomic features to determine variants with high posterior probabilities of being causal. Potentially causal variants were significantly over-represented in active gene regulatory regions and transcription factor binding sites. We applied our INQUSIT pipeline for prioritizing genes as targets of those potentially causal variants, using gene expression (expression quantitative trait loci), chromatin interaction and functional annotations. Known cancer drivers, transcription factors and genes in the developmental, apoptosis, immune system and DNA integrity checkpoint gene ontology pathways were over-represented among the highest-confidence target genes.
- Published
- 2020
48. BAP1 and Breast Cancer Risk
- Author
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Coupier, Isabelle, Cousin, Pierre-Yves, Hughes, David, Legoix-Né, Patricia, Trehin, Alexandra, Sinilnikova, Olga M., and Stoppa-Lyonnet, Dominique
- Published
- 2005
- Full Text
- View/download PDF
49. Gene‐ and pathway‐level analyses of iCOGS variants highlight novel signaling pathways underlying familial breast cancer susceptibility
- Author
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Lonjou, Christine, primary, Eon‐Marchais, Séverine, additional, Truong, Thérèse, additional, Dondon, Marie‐Gabrielle, additional, Karimi, Mojgan, additional, Jiao, Yue, additional, Damiola, Francesca, additional, Barjhoux, Laure, additional, Le Gal, Dorothée, additional, Beauvallet, Juana, additional, Mebirouk, Noura, additional, Cavaciuti, Eve, additional, Chiesa, Jean, additional, Floquet, Anne, additional, Audebert‐Bellanger, Séverine, additional, Giraud, Sophie, additional, Frebourg, Thierry, additional, Limacher, Jean‐Marc, additional, Gladieff, Laurence, additional, Mortemousque, Isabelle, additional, Dreyfus, Hélène, additional, Lejeune‐Dumoulin, Sophie, additional, Lasset, Christine, additional, Venat‐Bouvet, Laurence, additional, Bignon, Yves‐Jean, additional, Pujol, Pascal, additional, Maugard, Christine M., additional, Luporsi, Elisabeth, additional, Bonadona, Valérie, additional, Noguès, Catherine, additional, Berthet, Pascaline, additional, Delnatte, Capucine, additional, Gesta, Paul, additional, Lortholary, Alain, additional, Faivre, Laurence, additional, Buecher, Bruno, additional, Caron, Olivier, additional, Gauthier‐Villars, Marion, additional, Coupier, Isabelle, additional, Mazoyer, Sylvie, additional, Monraz, Luis‐Cristobal, additional, Kondratova, Maria, additional, Kuperstein, Inna, additional, Guénel, Pascal, additional, Barillot, Emmanuel, additional, Stoppa‐Lyonnet, Dominique, additional, Andrieu, Nadine, additional, and Lesueur, Fabienne, additional
- Published
- 2021
- Full Text
- View/download PDF
50. Fidelity of DNA double-strand break repair in heterozygous cell lines harbouring BRCA1 missense mutations
- Author
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Coupier, Isabelle, Baldeyron, Céline, Rousseau, Alexandra, Mosseri, Véronique, Pages-Berhouet, Sabine, Caux-Moncoutier, Virginie, Papadopoulo, Dora, and Stoppa-Lyonnet, Dominique
- Published
- 2004
- Full Text
- View/download PDF
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