Search

Your search keyword '"Ina Ruehl"' showing total 4 results
Start Over Author "Ina Ruehl"
4 results on '"Ina Ruehl"'

1. An international registry for emergent pathogens and pregnancy

Author

Panchaud, Alice, primary, Favre, Guillaume, additional, Pomar, Leo, additional, Vouga, Manon, additional, Aebi-Popp, Karoline, additional, Baud, David, additional, Ann-Christin, Tallarek, additional, Brigitte, Strizek, additional, Kurt, Hecher, additional, Paul, Böckenhoff, additional, Susanne, Schrey-Petersen, additional, Edward, Mullins, additional, Rebecca, Bromley, additional, Clare, Whitehead, additional, Daniel, Rolnik, additional, Jan, Deprest, additional, Jute, Richter, additional, Adriana, Gomes Luz, additional, Betania, Bohrer, additional, Carolina, Carvalho Ribeiro-do-Valle, additional, Fernanda, Garanhani Surita, additional, Lavinia, Schuler-Faccini, additional, Maria Celeste, Osorio Wender, additional, Maria Lucia, Da Rocha Oppermann, additional, Renato Augusto, Moreira de sa, additional, Silvana, Quintana, additional, Ana, Sjaus, additional, Arifa, Rahman, additional, Audrey, Hamel-Thibault, additional, Christopher, Nash, additional, Fatima, Kakkar, additional, Howard, Berger, additional, Isabelle, Boucoiran, additional, Jean-Charles, Pasquier, additional, John, Snelgrove, additional, Jonathan, Zipursky, additional, Meagan, Lacroix, additional, Wendy, Whittle, additional, Javiera, Fuenzalida, additional, Jorge, Carvajal, additional, Manuel, Guerra Canales, additional, Olivia, Hernandez, additional, Mingzhu, Yin, additional, Xiang, Chen, additional, Xiaolong, Qi, additional, José Enrique, Sanín Blair, additional, Ricardo, Gonzalez, additional, Africa, Cano Aguilar, additional, Agueda, Rodriguez Vicente, additional, Albert, Tubau Navarra, additional, Alberto, Puertas Prieto, additional, Alejandra Maria, Cano Garcia, additional, Ana, Carrascal Cumplido, additional, Ana, Villalba Yarza, additional, Ana Cristina, Filloy Lavia, additional, Ana Maria, Fernandez Alonso, additional, Angeles, Sanchez Vegazo Garcia, additional, Anna, Goncé, additional, Antonio, Ruano Garcia, additional, Antonio, Sanchez Munoz, additional, Beatriz, Marcos Puig, additional, Begona, Munoz Abellana, additional, Belen, Garrido Luque, additional, Camino, Fernandez Fernandez, additional, Carlos, Larranaga Azcarate, additional, Carmen, Baena Luque, additional, Carmen Maria, Orizales Lago, additional, Cristina, Alvarez Colomo, additional, Cristina, Lesmes Heredia, additional, Cristina, Ruiz Aguilar, additional, Elena, Ferriols Perez, additional, Elena, Pascual Salvador, additional, Encarnacion, Carmona Sanchez, additional, Esther, Alvarez Silvares, additional, Esther Maria, Canedo Carballeira, additional, Eva, Moran Antolin, additional, Eva Maria, Muelas Parraga, additional, Eva Maria, Oviedo Perez, additional, Francisco Jesus, Gonzalez Carvajal, additional, Iène, Agudo, additional, Iratxe, Ocerin Bengoa, additional, Irene, Gastaca Abasolo, additional, Isabel, Cabello de Alba Fernandez, additional, Javier, Alvarez, additional, Jorge, Duro Gomez, additional, Jose, Atxotegi, additional, José, Navarrina Martinez, additional, José, Ruiz Aragon, additional, José Antonio, Sainz Bueno, additional, Jose Manuel, Adanez Garcia, additional, José Roman, Broullon Molanes, additional, Juan Carlos, Wizner de Alva, additional, Laura, Forcen Acebal, additional, Laura, Gonzalez Rodriguez, additional, Longinos, Aceituno Velasco, additional, Lucas, Cerrillos Gonzalez, additional, Lucas, Trigo, additional, Lucia, Diaz Meca, additional, M Carmen, Parada Millan, additional, Magdalena, Molina Oller, additional, Manuel, Dominguez Gonzalez, additional, Mar, Munoz Chapuli Gutierrez, additional, Maria, Caridad Ortiz Herrera, additional, Maria, Nieves Quesada Fernandez, additional, Maria, Suarez Arana, additional, Maria, Teulon Gonzalez, additional, Maria, Zafra Bailera, additional, Maria Begona, Duenas Carazo, additional, Maria Carmen, Gonzalez Macias, additional, Maria del, Pilar Guadix Martin, additional, Maria del Carmen, Barbancho Lopez, additional, Maria del Carmen, Medina Mallen, additional, Maria Isabel, Pardo Pumar, additional, Maria Joaquina, Gimeno Gimeno, additional, Maria José, Nunez Valera, additional, Maria José, Pelegay Escartin, additional, Marta, Camacho Caro, additional, Marta, Garcia Sanchez, additional, Marta Ruth, Meca Casbas, additional, Mercedes, Fraca Padilla, additional, Mercedes, Ramirez Gomez, additional, Monica, Catalina Coello, additional, Monica, Cruz Lemini, additional, Noelia, Perez Perez, additional, Olga, Nieto Velasco, additional, Onofre, Alomar Mateu, additional, Oscar, Martinez Perez, additional, Oscar, Vaquerizo Ruiz, additional, Pablo Guillermo del, Barrio Fernández, additional, Pilar, Monteliu Gonzalez, additional, Pilar, Prats Rodriguez, additional, Porfirio, Vivaracho Terrer, additional, Raquel, Gonzales Seoane, additional, Raquel, Jimenez Velazquez, additional, Rebeca, Alvarez Fernandez, additional, Rocio, Lopez Perez, additional, Rosa Maria, Ostos Serna, additional, Rosario, Redondo Aguilar, additional, Rut, Bernardo Vega, additional, Sandra, Cano, additional, Silvia, Mateos Lopez, additional, Susana, Fernandez Garcia, additional, Susana, Soldevilla Perez, additional, Tania, Manrique Gomez, additional, Vitor, Munoz Carmona, additional, Albert I, Ko, additional, Anthony, Johnson, additional, Karin, Nielsen Saines, additional, Mary, Cambou, additional, Olga, Grechukhina, additional, Sahara, Neupane, additional, Uma, Reddy, additional, Zubin, Shah, additional, Bénédicte, Breton, additional, Charles, Garabedian, additional, Charline, Bertholdt, additional, Christophe, Poncelet, additional, Damien, Subtil, additional, Didier, Musso, additional, Estelle, Henry, additional, Gaetan, Plantefeve, additional, Guillaume, Ducarme, additional, Helene, Pelerin, additional, Jerome, Dimet, additional, Judith, Cottin, additional, Julien, Stiremann, additional, Véronique, Lambert, additional, Najeh, Hcini, additional, Laurent, Salomon, additional, Loïc, Sentilhes, additional, Marylene, Giral, additional, Nicolas, Mottet, additional, Olivier, Morel, additional, Patrick, Rozenberg, additional, Sedille, Lucie, additional, Thibaud, Quibel, additional, Vasiliki, Karagianni, additional, Véronique, Equy, additional, Yves, Ville, additional, Gabriel, Carles, additional, Ina, Ruehl, additional, Brian, Cleary, additional, Fergal, Malone, additional, Mary, Higgins, additional, Michael, Geary, additional, Eran, Hadar, additional, Gustavo, Malinger, additional, Hen, Sela, additional, Karina, Krajden Haratz, additional, Ron, Maymon, additional, Yariv, Yogev, additional, Carmen, De Luca, additional, Marco, De Santis, additional, Telefono, Rosso, additional, David, Atallah, additional, Emilija, Boguziene, additional, Fernando, Germes Pina, additional, Thomas, Van den Akker, additional, Enrique, Gil-Guevara, additional, Jeannette, Marchena, additional, Walter, Ventura, additional, Alcides, Pereira, additional, Diogo, Ayres de Campos, additional, Nadia, Charepe, additional, Pedro, Viana Pinto, additional, Diomede, Ntasumbumuyange, additional, Stephen, Rulisa, additional, Alice, Panchaud, additional, Anda-Petronela, Radan, additional, Andrea, Papadia, additional, Andrea, Bloch, additional, Anis, Feki, additional, Anne-Claude, Muller Brochut, additional, Arnaud, Toussaint, additional, Béatrice, Eggel-Hort, additional, Begoña, Martinez de Tejada, additional, Brigitte, Frey Tirri, additional, Brigitte, Weber, additional, Carolin, Blume, additional, Cécile, Monod, additional, Christian, Kahlert, additional, Cora, Voekt, additional, Daniel, Surbek, additional, David, Baud, additional, Dirk, Bassler, additional, Doris, Mueller, additional, Elke Barbara, Prentl, additional, Eva, Gerber, additional, Friederike, Rothe, additional, Giannoni, Eric, additional, Guillaume, Favre, additional, Irene, Hoesli, additional, Jérôme, Mathis, additional, Karine, Lepigeon, additional, Karoline, Aebi-Popp, additional, Leo, Pomar, additional, Leonhard, Schäffer, additional, Luigi, Raio, additional, Manon, Vouga, additional, Margaret, Huesler Charles, additional, Marie-Claude, Rossier, additional, Markus, Hodel, additional, Martin, Kaufmann, additional, Mathilde, Gavillet, additional, Michel, Boulvain, additional, Monya, Todesco Bernasconi, additional, Myriam, Bickle, additional, Nicole, Ochsenbein Kölble, additional, Omar, Jarrah, additional, Panagiotis, Kanellos, additional, Pascale, Brasier Lutz, additional, Romina, Capoccia Brugger, additional, Sandra, Heldstab, additional, Sandra Andrea, Heldstab, additional, Sylvie, Rouiller Cornu, additional, Tina, Fischer, additional, Ursula, Winterfeld, additional, Valentine, Lambelet, additional, Wawrzyniec, Rieder, additional, Gilbert, Greub, additional, Carole, Gengler, additional, Rena C, Patel, additional, Miguel Angel, Huespe, additional, and Albaro José, Nieto-Calvache, additional

Published
2020
Full Text
View/download PDF

2. Increased TGF-β: a drawback of tracheal occlusion in human and experimental congenital diaphragmatic hernia?

Author

C. Votino, Valérie Segers, Alexandra Benachi, Andreas W. Flemmer, Dorota Nowakowska, Jelena Martinovic, Jacques Jani, Aline Vuckovic, S Herber-Jonat, Ina Ruehl, and Monika Dzieniecka

Subjects
0301 basic medicine, Pulmonary and Respiratory Medicine, Pathology, medicine.medical_specialty, Physiology, Extracellular matrix, 03 medical and health sciences, Fetus, Transforming Growth Factor beta, Physiology (medical), medicine, Animals, Humans, Lung, Rho-associated protein kinase, rho-Associated Kinases, biology, business.industry, Congenital diaphragmatic hernia, Cell Biology, Transforming growth factor beta, respiratory system, medicine.disease, Respiration, Artificial, Airway Obstruction, Pulmonary Alveoli, Trachea, 030104 developmental biology, medicine.anatomical_structure, biology.protein, Rabbits, Hernias, Diaphragmatic, Congenital, business, Myofibroblast, Transforming growth factor
Abstract

Survivors of severe congenital diaphragmatic hernia (CDH) present significant respiratory morbidity despite lung growth induced by fetal tracheal occlusion (TO). We hypothesized that the underlying mechanisms would involve changes in lung extracellular matrix and dysregulated transforming growth factor (TGF)-β pathway, a key player in lung development and repair. Pulmonary expression of TGF-β signaling components, downstream effectors, and extracellular matrix targets were evaluated in CDH neonates who died between birth and the first few weeks of life after prenatal conservative management or TO, and in rabbit pups that were prenatally randomized for surgical CDH and TO vs. sham operation. Before tissue harvesting, lung tissue mechanics in rabbits was measured using the constant-phase model during the first 30 min of life. Human CDH and control fetal lungs were also collected from midterm onwards. Human and experimental CDH did not affect TGF-β/Smad2/3 expression and activity. In human and rabbit CDH lungs, TO upregulated TGF-β transcripts. Analysis of downstream pathways indicated increased Rho-associated kinases to the detriment of Smad2/3 activation. After TO, subtle accumulation of collagen and α-smooth muscle actin within alveolar walls was detected in rabbit pups and human CDH lungs with short-term mechanical ventilation. Despite TO-induced lung growth, mediocre lung tissue mechanics in the rabbit model was associated with increased transcription of extracellular matrix components. These results suggest that prenatal TO increases TGF-β/Rho kinase pathway, myofibroblast differentiation, and matrix deposition in neonatal rabbit and human CDH lungs. Whether this might influence postnatal development of sustainably ventilated lungs remains to be determined.

Published
2016
Full Text
View/download PDF

3. An international registry for emergent pathogens and pregnancy

Author

Ann-Christin, Tallarek, Brigitte, Strizek, Kurt, Hecher, Paul, Böckenhoff, Susanne, Schrey-Petersen, Edward, Mullins, Rebecca, Bromley, Clare, Whitehead, Daniel, Rolnik, Jan, Deprest, Jute, Richter, Adriana, Gomes Luz, Betania, Bohrer, Carolina, Carvalho Ribeiro-do-Valle, Fernanda, Garanhani Surita, Lavinia, Schuler-Faccini, Maria Celeste, Osorio Wender, Maria Lucia, Da Rocha Oppermann, Renato Augusto, Moreira de sa, Silvana, Quintana, Ana, Sjaus, Arifa, Rahman, Audrey, Hamel-Thibault, Christopher, Nash, Fatima, Kakkar, Howard, Berger, Isabelle, Boucoiran, Jean-Charles, Pasquier, John, Snelgrove, Jonathan, Zipursky, Meagan, Lacroix, Wendy, Whittle, Javiera, Fuenzalida, Jorge, Carvajal, Manuel, Guerra Canales, Olivia, Hernandez, Mingzhu, Yin, Xiang, Chen, Xiaolong, Qi, José Enrique, Sanín Blair, Ricardo, Gonzalez, Africa, Cano Aguilar, Agueda, Rodriguez Vicente, Albert, Tubau Navarra, Alberto, Puertas Prieto, Alejandra Maria, Cano Garcia, Ana, Carrascal Cumplido, Ana, Villalba Yarza, Ana Cristina, Filloy Lavia, Ana Maria, Fernandez Alonso, Angeles, Sanchez Vegazo Garcia, Anna, Goncé, Antonio, Ruano Garcia, Antonio, Sanchez Munoz, Beatriz, Marcos Puig, Begona, Munoz Abellana, Belen, Garrido Luque, Camino, Fernandez Fernandez, Carlos, Larranaga Azcarate, Carmen, Baena Luque, Carmen Maria, Orizales Lago, Cristina, Alvarez Colomo, Cristina, Lesmes Heredia, Cristina, Ruiz Aguilar, Elena, Ferriols Perez, Elena, Pascual Salvador, Encarnacion, Carmona Sanchez, Esther, Alvarez Silvares, Esther Maria, Canedo Carballeira, Eva, Moran Antolin, Eva Maria, Muelas Parraga, Eva Maria, Oviedo Perez, Francisco Jesus, Gonzalez Carvajal, Iène, Agudo, Iratxe, Ocerin Bengoa, Irene, Gastaca Abasolo, Isabel, Cabello de Alba Fernandez, Javier, Alvarez, Jorge, Duro Gomez, Jose, Atxotegi, José, Navarrina Martinez, José, Ruiz Aragon, José Antonio, Sainz Bueno, Jose Manuel, Adanez Garcia, José Roman, Broullon Molanes, Juan Carlos, Wizner de Alva, Laura, Forcen Acebal, Laura, Gonzalez Rodriguez, Longinos, Aceituno Velasco, Lucas, Cerrillos Gonzalez, Lucas, Trigo, Lucia, Diaz Meca, M Carmen, Parada Millan, Magdalena, Molina Oller, Manuel, Dominguez Gonzalez, Mar, Munoz Chapuli Gutierrez, Maria, Caridad Ortiz Herrera, Maria, Nieves Quesada Fernandez, Maria, Suarez Arana, Maria, Teulon Gonzalez, Maria, Zafra Bailera, Maria Begona, Duenas Carazo, Maria Carmen, Gonzalez Macias, Maria del, Pilar Guadix Martin, Maria del Carmen, Barbancho Lopez, Maria del Carmen, Medina Mallen, Maria Isabel, Pardo Pumar, Maria Joaquina, Gimeno Gimeno, Maria José, Nunez Valera, Maria José, Pelegay Escartin, Marta, Camacho Caro, Marta, Garcia Sanchez, Marta Ruth, Meca Casbas, Mercedes, Fraca Padilla, Mercedes, Ramirez Gomez, Monica, Catalina Coello, Monica, Cruz Lemini, Noelia, Perez Perez, Olga, Nieto Velasco, Onofre, Alomar Mateu, Oscar, Martinez Perez, Oscar, Vaquerizo Ruiz, Pablo Guillermo del, Barrio Fernández, Pilar, Monteliu Gonzalez, Pilar, Prats Rodriguez, Porfirio, Vivaracho Terrer, Raquel, Gonzales Seoane, Raquel, Jimenez Velazquez, Rebeca, Alvarez Fernandez, Rocio, Lopez Perez, Rosa Maria, Ostos Serna, Rosario, Redondo Aguilar, Rut, Bernardo Vega, Sandra, Cano, Silvia, Mateos Lopez, Susana, Fernandez Garcia, Susana, Soldevilla Perez, Tania, Manrique Gomez, Vitor, Munoz Carmona, Albert I, Ko, Anthony, Johnson, Karin, Nielsen Saines, Mary, Cambou, Olga, Grechukhina, Sahara, Neupane, Uma, Reddy, Zubin, Shah, Bénédicte, Breton, Charles, Garabedian, Charline, Bertholdt, Christophe, Poncelet, Damien, Subtil, Didier, Musso, Estelle, Henry, Gaetan, Plantefeve, Guillaume, Ducarme, Helene, Pelerin, Jerome, Dimet, Judith, Cottin, Julien, Stiremann, Véronique, Lambert, Najeh, Hcini, Laurent, Salomon, Loïc, Sentilhes, Marylene, Giral, Nicolas, Mottet, Olivier, Morel, Patrick, Rozenberg, Sedille, Lucie, Thibaud, Quibel, Vasiliki, Karagianni, Véronique, Equy, Yves, Ville, Gabriel, Carles, Ina, Ruehl, Brian, Cleary, Fergal, Malone, Mary, Higgins, Michael, Geary, Eran, Hadar, Gustavo, Malinger, Hen, Sela, Karina, Krajden Haratz, Ron, Maymon, Yariv, Yogev, Carmen, De Luca, Marco, De Santis, Telefono, Rosso, David, Atallah, Emilija, Boguziene, Fernando, Germes Pina, Thomas, Van den Akker, Enrique, Gil-Guevara, Jeannette, Marchena, Walter, Ventura, Alcides, Pereira, Diogo, Ayres de Campos, Nadia, Charepe, Pedro, Viana Pinto, Diomede, Ntasumbumuyange, Stephen, Rulisa, Alice, Panchaud, Anda-Petronela, Radan, Andrea, Papadia, Andrea, Bloch, Anis, Feki, Anne-Claude, Muller Brochut, Arnaud, Toussaint, Béatrice, Eggel-Hort, Begoña, Martinez de Tejada, Brigitte, Frey Tirri, Brigitte, Weber, Carolin, Blume, Cécile, Monod, Christian, Kahlert, Cora, Voekt, Daniel, Surbek, David, Baud, Dirk, Bassler, Doris, Mueller, Elke Barbara, Prentl, Eva, Gerber, Friederike, Rothe, Giannoni, Eric, Guillaume, Favre, Irene, Hoesli, Jérôme, Mathis, Karine, Lepigeon, Karoline, Aebi-Popp, Leo, Pomar, Leonhard, Schäffer, Luigi, Raio, Manon, Vouga, Margaret, Huesler Charles, Marie-Claude, Rossier, Markus, Hodel, Martin, Kaufmann, Mathilde, Gavillet, Michel, Boulvain, Monya, Todesco Bernasconi, Myriam, Bickle, Nicole, Ochsenbein Kölble, Omar, Jarrah, Panagiotis, Kanellos, Pascale, Brasier Lutz, Romina, Capoccia Brugger, Sandra, Heldstab, Sandra Andrea, Heldstab, Sylvie, Rouiller Cornu, Tina, Fischer, Ursula, Winterfeld, Valentine, Lambelet, Wawrzyniec, Rieder, Gilbert, Greub, Carole, Gengler, Rena C, Patel, Miguel Angel, Huespe, Albaro José, Nieto-Calvache, Panchaud, Alice, Favre, Guillaume, Pomar, Leo, Vouga, Manon, Aebi-Popp, Karoline, and Baud, David

Published
2020
Full Text
View/download PDF

4. Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

Author

Thomas v O Hansen, Amanda B. Spurdle, Anne-Marie Gerdes, Sue Healey, Per Karlsson, Tomasz Huzarski, Mary B. Daly, Mary Porteous, T. Caldes, Ulf Kristoffersson, Ignacio Blanco, A. Miron, Laurence Faivre, Barbara Wappenschmidt, Laurence Venat-Bouvet, Marie Stenmark Askmalm, Olga M. Sinilnikova, Susan Peock, Alessandra Viel, Conxi Lázaro, Katherine L. Nathanson, Laurent Castera, Douglas F. Easton, Susan L. Neuhausen, Jan Lubinski, Phuong L. Mai, Virginie Moncoutier, Paolo Radice, Heli Nevanlinna, Christi J Asperen, Xianshu Wang, Brita Arver, Christian Sutter, Senno Verhoef, Rosette Lidereau, Mary S Beattie, Bjarni A Agnarsson, Ina Ruehl, Monica Barile, Bent Ejlertsen, Laura Ottini, Catherine Noguès, Jennifer A. Przybylo, Cinzia Casella, Trevor Cole, Norbert Arnold, Sandra Fert-Ferrer, Hilmi Ozcelik, Irene L. Andrulis, Susan M. Domchek, Valérie Bonadona, Kirsten B. Moysich, David E. Goldgar, Anna Jakubowska, Paul D.P. Pharoah, Beth Y. Karlan, Jenny Gross, Gaia Roversi, Tadeusz Dębniak, Hanne Meijers-Heijboer, Susan J. Ramus, Dorthe G. Crüger, Zachary S. Fredericksen, Siranoush Manoukian, Viviana Gismondi, Maria A. Caligo, Helene Holland, Laure Barjhoux, Gord Glendon, Ana Osorio, Jacques Simard, John L. Hopper, Mercedes Durán, Kristiina Aittomäki, Håkan Olsson, Mads Thomassen, Fabio Capra, Patrick J. Morrison, Britta Fiebig, Mary Beth Terry, Marinus J. Blok, Evgeny N. Imyanitov, Joseph Vijai, Javier Benitez, Mark T. Rogers, D. Gareth Evans, Helmut Deissler, Tomasz Byrski, Sylvie Mazoyer, Laura Papi, Dominique Stoppa-Lyonnet, Marco Montagna, Kenneth Offit, Cezary Cybulski, Dominique Leroux, Georgia Chenevix-Trench, Danielle Bodmer, Lucy Side, Margaret Cook, Ros Eeles, Alan Donaldson, Christiana Kartsonaki, Carole Brewer, Matti A. Rookus, Jacek Gronwald, Dorothea Gadzicki, Shirley Hodgson, Jonathan Beesley, Gabriella Pichert, Andrew K. Godwin, Dieter Niederacher, Yuan Chun Ding, Torben A Kruse, Paolo Peterlongo, Rita K. Schmutzler, Xiaoqing Chen, Annika Lindblom, Fergus J. Couch, Maaike P.G. Vreeswijk, Mark H. Greene, Esther M. John, Raymonda Varon-Mateeva, Simon A. Gayther, Margreet G. E. M. Ausems, Tomas Kirchhoff, Lars Jønson, Madeleine M. A. Tilanus-Linthorst, Ute Hamann, Marie-Agnès Collonge-Rame, Antonis C. Antoniou, M John Kennedy, Karin Kast, Theo A. M. van Os, Penny Soucy, Debra Frost, Alison M. Dunning, Daniela Zaffaroni, Anna Allavena, Maria-Isabel Tejada, Yves-Jean Bignon, Lesley McGuffog, Bohdan Górski, Åke Borg, Fabienne Prieur, Bernard Peissel, Helen Gregory, Clare Oliver, Saundra S. Buys, Ana Dutra-Clarke, Alfons Meindl, Ramunas Janavicius, Uffe Birk Jensen, Miguel de la Hoya, Ramus, S, Kartsonaki, C, Gayther, S, Pharoah, P, Sinilnikova, O, Beesley, J, Chen, X, Mcguffog, L, Healey, S, Couch, F, Wang, X, Fredericksen, Z, Peterlongo, P, Manoukian, S, Peissel, B, Zaffaroni, D, Roversi, G, Barile, M, Viel, A, Allavena, A, Ottini, L, Papi, L, Gismondi, V, Capra, F, Radice, P, Greene, M, Mai, P, Andrulis, I, Glendon, G, Ozcelik, H, Thomassen, M, Gerdes, A, Kruse, T, Cruger, D, Jensen, U, Caligo, M, Olsson, H, Kristoffersson, U, Lindblom, A, Arver, B, Karlsson, P, Stenmark Askmalm, M, Borg, A, Neuhausen, S, Ding, Y, Nathanson, K, Domchek, S, Jakubowska, A, Lubiński, J, Huzarski, T, Byrski, T, Gronwald, J, Górski, B, Cybulski, C, Dębniak, T, Osorio, A, Durán, M, Tejada, M, Benítez, J, Hamann, U, Rookus, M, Verhoef, S, Tilanus Linthorst, M, Vreeswijk, M, Bodmer, D, Ausems, M, van Os, T, Asperen, C, Blok, M, Meijers Heijboer, H, Peock, S, Cook, M, Oliver, C, Frost, D, Dunning, A, Evans, D, Eeles, R, Pichert, G, Cole, T, Hodgson, S, Brewer, C, Morrison, P, Porteous, M, Kennedy, M, Rogers, M, Side, L, Donaldson, A, Gregory, H, Godwin, A, Stoppa Lyonnet, D, Moncoutier, V, Castera, L, Mazoyer, S, Barjhoux, L, Bonadona, V, Leroux, D, Faivre, L, Lidereau, R, Nogues, C, Bignon, Y, Prieur, F, Collonge Rame, M, Venat Bouvet, L, Fert Ferrer, S, Miron, A, Buys, S, Hopper, J, Daly, M, John, E, Terry, M, Goldgar, D, Hansen, T, Jønson, L, Ejlertsen, B, Agnarsson, B, Offit, K, Kirchhoff, T, Vijai, J, Dutra Clarke, A, Przybylo, J, Montagna, M, Casella, C, Imyanitov, E, Janavicius, R, Blanco, I, Lázaro, C, Moysich, K, Karlan, B, Gross, J, Beattie, M, Schmutzler, R, Wappenschmidt, B, Meindl, A, Ruehl, I, Fiebig, B, Sutter, C, Arnold, N, Deissler, H, Varon Mateeva, R, Kast, K, Niederacher, D, Gadzicki, D, Caldes, T, de la Hoya, M, Nevanlinna, H, Aittomäki, K, Simard, J, Soucy, P, Spurdle, A, Holland, H, Chenevix Trench, G, Easton, D, Antoniou, A, Faculteit Medische Wetenschappen/UMCG, Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Klinische Genetica, Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction, Clinical Genetics, Pediatric Surgery, Human genetics, CCA - Oncogenesis, and Human Genetics

Subjects
Oncology, Cancer Research, endocrine system diseases, Genes, BRCA2, Genes, BRCA1, Genome-wide association study, FAMILIES, 0302 clinical medicine, Risk Factors, Retrospective Studie, Genotype, Odds Ratio, skin and connective tissue diseases, POPULATION, Genetics, Ovarian Neoplasms, Aged, 80 and over, Allele, 0303 health sciences, education.field_of_study, Likelihood Functions, Articles, GERMLINE MUTATIONS, Middle Aged, Likelihood Function, female genital diseases and pregnancy complications, 3. Good health, 030220 oncology & carcinogenesis, Female, Chromosomes, Human, Pair 9, Human, Adult, [SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT], medicine.medical_specialty, Heterozygote, SUSCEPTIBILITY LOCI, PROTEINS, Population, Biology, Polymorphism, Single Nucleotide, BASONUCLIN-2, 03 medical and health sciences, Breast cancer, Germline mutation, SDG 3 - Good Health and Well-being, Internal medicine, medicine, BREAST-CANCER, Humans, GENOME-WIDE ASSOCIATION, education, Alleles, Germ-Line Mutation, 030304 developmental biology, Retrospective Studies, Aged, IDENTIFICATION, Risk Factor, Ovarian Neoplasm, Editorials, Cancer, medicine.disease, Minor allele frequency, Ovarian cancer
Abstract

[Background]: Germline mutations in the BRCA1 and BRCA2 genes are associated with increased risks of breast and ovarian cancers. Although several common variants have been associated with breast cancer susceptibility in mutation carriers, none have been associated with ovarian cancer susceptibility. A genome-wide association study recently identified an association between the rare allele of the single-nucleotide polymorphism (SNP) rs3814113 (ie, the C allele) at 9p22.2 and decreased risk of ovarian cancer for women in the general population. We evaluated the association of this SNP with ovarian cancer risk among BRCA1 or BRCA2 mutation carriers by use of data from the Consortium of Investigators of Modifiers of BRCA1/2. [Methods]: We genotyped rs3814113 in 10 029 BRCA1 mutation carriers and 5837 BRCA2 mutation carriers. Associations with ovarian and breast cancer were assessed with a retrospective likelihood approach. All statistical tests were two-sided. [Results]: The minor allele of rs3814113 was associated with a reduced risk of ovarian cancer among BRCA1 mutation carriers (per-allele hazard ratio of ovarian cancer = 0.78, 95% confidence interval = 0.72 to 0.85; P = 4.8 × 10-9) and BRCA2 mutation carriers (hazard ratio of ovarian cancer = 0.78, 95% confidence interval = 0.67 to 0.90; P = 5.5 × 10-4). This SNP was not associated with breast cancer risk among either BRCA1 or BRCA2 mutation carriers. BRCA1 mutation carriers with the TT genotype at SNP rs3814113 were predicted to have an ovarian cancer risk to age 80 years of 48%, and those with the CC genotype were predicted to have a risk of 33%. [Conclusion]: Common genetic variation at the 9p22.2 locus was associated with decreased risk of ovarian cancer for carriers of a BRCA1 or BRCA2 mutation., Spanish National Cancer Center (CNIO) and the Spanish Consortium: Partially supported by Fundación Mutua Madrileña, Asociación Española Contra el Cáncer, and the Spanish Ministry of Science and Innovation (FIS PI08 1120).

Published
2011
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results