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33 results on '"Collonge-Rame, Marie-Agnes"'

3. Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease

Author

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

Published
2023
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4. The t(X;20)(q13;q13) translocation is a good prognostic factor in myeloid neoplasms: A report of 25 cases from the Groupe Francophone de Cytogénétique Hématologique

Author

Nguyen‐Khac, Florence, primary, Muller, Marc, additional, Chapiro, Elise, additional, Abermil, Nassera, additional, Collonge‐Rame, Marie‐Agnes, additional, Daudignon, Agnes, additional, Gaillard, Baptiste, additional, Guzun, Doina, additional, Ittel, Antoine, additional, Lefebvre, Christine, additional, Lesesve, Jean‐Francois, additional, Mozziconacci, Marie‐Joelle, additional, Penther, Dominique, additional, Quessada, Julie, additional, Settegrana, Catherine, additional, Smagghe, Luce, additional, Terre, Christine, additional, Veronese, Lauren, additional, Hirsch, Pierre, additional, and Troadec, Marie‐Bérengère, additional

Published
2024
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5. The CADM1 tumor suppressor gene is a major candidate gene in MDS with deletion of the long arm of chromosome 11

Author

Lafage-Pochitaloff, Marina, Gerby, Bastien, Baccini, Véronique, Largeaud, Laetitia, Fregona, Vincent, Prade, Naïs, Juvin, Pierre-Yves, Jamrog, Laura, Bories, Pierre, Hébrard, Sylvie, Lagarde, Stéphanie, Mas, Véronique Mansat-De, Dovey, Oliver M, Yusa, Kosuke, Vassiliou, George S, Jansen, Joop H., Tekath, Tobias, Rombaut, David, Ameye, Geneviève, Barin, Carole, Bidet, Audrey, Boudjarane, John, Collonge-Rame, Marie-Agnès, Gervais, Carine, Ittel, Antoine, Lefebvre, Christine, Luquet, Isabelle, Michaux, Lucienne, Nadal, Nathalie, Poirel, Hélène A., Radford-Weiss, Isabelle, Ribourtout, Bénédicte, Richebourg, Steven, Struski, Stéphanie, Terré, Christine, Tigaud, Isabelle, Penther, Dominique, Eclache, Virginie, Fontenay, Michaela, Broccardo, Cyril, and Delabesse, Eric

Published
2021
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6. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Author

Barnes, Daniel R., Rookus, Matti A., McGuffog, Lesley, Leslie, Goska, Mooij, Thea M., Dennis, Joe, Mavaddat, Nasim, Adlard, Julian, Ahmed, Munaza, Aittomäki, Kristiina, Andrieu, Nadine, Andrulis, Irene L., Arnold, Norbert, Arun, Banu K., Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Białkowska, Katarzyna, Blanco, Amie M., Blok, Marinus J., Bonanni, Bernardo, Boonen, Susanne E., Borg, Åke, Bozsik, Aniko, Bradbury, Angela R., Brennan, Paul, Brewer, Carole, Brunet, Joan, Buys, Saundra S., Caldés, Trinidad, Caligo, Maria A., Campbell, Ian, Christensen, Lise Lotte, Chung, Wendy K., Claes, Kathleen B.M., Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Delnatte, Capucine, Faivre, Laurence, Giraud, Sophie, Lasset, Christine, Mari, Véronique, Mebirouk, Noura, Mouret-Fourme, Emmanuelle, Schuster, Hélène, Stoppa-Lyonnet, Dominique, Antoniou, Antonis, Cook, Jackie, Davidson, Rosemarie, Easton, Douglas, Eeles, Ros, Evans, D. Gareth, Frost, Debra, Hanson, Helen, Izatt, Louise, Ong, Kai-ren, Side, Lucy, O’Shaughnessy-Kirwan, Aoife, Tischkowitz, Marc, Walker, Lisa, Daly, Mary B., de la Hoya, Miguel, de Putter, Robin, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Dorfling, Cecilia M., Dumont, Martine, Ejlertsen, Bent, Engel, Christoph, Foretova, Lenka, Fostira, Florentia, Friedlander, Michael, Friedman, Eitan, Ganz, Patricia A., Garber, Judy, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., González-Neira, Anna, Greene, Mark H., Gschwantler-Kaulich, Daphne, Hahnen, Eric, Hamann, Ute, Hentschel, Julia, Hogervorst, Frans B.L., Hooning, Maartje J., Horvath, Judit, Hu, Chunling, Hulick, Peter J., Imyanitov, Evgeny N., Chenevix-Trench, Georgia, Phillips, Kelly-Anne, Spurdle, Amanda, Blok, Marinus, Hogervorst, Frans, Hooning, Maartje, Koudijs, Marco, Mensenkamp, Arjen, Meijers-Heijboer, Hanne, Rookus, Matti, Engelen, Klaartje van, Noguès, Catherine, Isaacs, Claudine, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kast, Karin, Kruse, Torben A., Kwong, Ava, Laitman, Yael, Lazaro, Conxi, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loud, Jennifer T., Lubiński, Jan, Mai, Phuong L., Manoukian, Siranoush, Meijers-Heijboer, Hanne E.J., Meindl, Alfons, Mensenkamp, Arjen R., Miller, Austin, Montagna, Marco, Mukherjee, Semanti, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn Cilius, Nikitina-Zake, Liene, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Ott, Claus-Eric, Papi, Laura, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Peterlongo, Paolo, Pfeiler, Georg, Prajzendanc, Karolina, Pujana, Miquel Angel, Radice, Paolo, Ramser, Juliane, Ramus, Susan J., Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Robson, Mark, Rønlund, Karina, Salani, Ritu, Senter, Leigha, Shah, Payal D., Sharma, Priyanka, Side, Lucy E., Singer, Christian F., Slavin, Thomas P., Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Steinemann, Doris, Steinsnyder, Zoe, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thull, Darcy L., Tognazzo, Silvia, Toland, Amanda E., Trainer, Alison H., Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Vega, Ana, Vierstraete, Jeroen, Wagner, Gabriel, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Yadav, Siddhartha, Yang, Xin, Yannoukakos, Drakoulis, Zimbalatti, Dario, Offit, Kenneth, Thomassen, Mads, Couch, Fergus J., Schmutzler, Rita K., Simard, Jacques, Easton, Douglas F., and Antoniou, Antonis C.

Published
2020
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7. Genetic characterization of B-cell prolymphocytic leukemia: a prognostic model involving MYC and TP53

Author

Chapiro, Elise, Pramil, Elodie, Diop, M'boyba, Roos-Weil, Damien, Dillard, Clémentine, Gabillaud, Clémentine, Maloum, Karim, Settegrana, Catherine, Baseggio, Lucile, Lesesve, Jean-François, Yon, Mélanie, Jondreville, Ludovic, Lesty, Claude, Davi, Frédéric, Le Garff-Tavernier, Magali, Droin, Nathalie, Dessen, Philippe, Algrin, Caroline, Leblond, Véronique, Gabarre, Jean, Bouzy, Simon, Eclache, Virginie, Gaillard, Baptiste, Callet-Bauchu, Evelyne, Muller, Marc, Lefebvre, Christine, Nadal, Nathalie, Ittel, Antoine, Struski, Stéphanie, Collonge-Rame, Marie-Agnès, Quilichini, Benoit, Fert-Ferrer, Sandra, Auger, Nathalie, Radford-Weiss, Isabelle, Wagner, Lena, Scheinost, Sebastian, Zenz, Thorsten, Susin, Santos A., Bernard, Olivier A., and Nguyen-Khac, Florence

Published
2019
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8. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Author

Hakkaart, Christopher, Pearson, John F., Marquart, Louise, Dennis, Joe, Wiggins, George A. R., Barnes, Daniel R., Robinson, Bridget A., Mace, Peter D., Aittomaki, Kristiina, Andrulis, Irene L., Arun, Banu K., Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Belhadj, Sami, Berger, Lieke, Blok, Marinus J., Boonen, Susanne E., Borde, Julika, Bradbury, Angela R., Brunet, Joan, Buys, Saundra S., Caligo, Maria A., Campbell, Ian, Chung, Wendy K., Claes, Kathleen B. M., Collonge-Rame, Marie-Agnes, Cook, Jackie, Cosgrove, Casey, Couch, Fergus J., Daly, Mary B., Dandiker, Sita, Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Dhawan, Mallika, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Donaldson, Alan, Eason, Jacqueline, Easton, Douglas F., Ehrencrona, Hans, Engel, Christoph, Evans, D. Gareth, Faust, Ulrike, Feliubadalo, Lidia, Fostira, Florentia, Friedman, Eitan, Frone, Megan, Frost, Debra, Garber, Judy, Gayther, Simon A., Gehrig, Andrea, Gesta, Paul, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Hahnen, Eric, Hake, Christopher R., Hamann, Ute, Hansen, Thomas V. O., Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kemp, Zoe, Kirk, Judy, Konstantopoulou, Irene, Koudijs, Marco, Kwong, Ava, Laitman, Yael, Lalloo, Fiona, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Legrand, Clementine, Leslie, Goska, Lesueur, Fabienne, Mai, Phuong L., Manoukian, Siranoush, Mari, Veronique, Martens, John W. M., McGuffog, Lesley, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Montagna, Marco, Moserle, Lidia, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Nambot, Sophie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Nguyen-Dumont, Tu, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Ott, Claus-Eric, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peixoto, Ana, Perez-Segura, Pedro, Peterlongo, Paolo, Pocza, Timea, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rodriguez, Gustavo C., Ronlund, Karina, Rosenberg, Efraim H., Rossing, Maria, Schmutzler, Rita K., Shah, Payal D., Sharif, Saba, Sharma, Priyanka, Side, Lucy E., Simard, Jacques, Singer, Christian F., Snape, Katie, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Trainer, Alison H., Tripathi, Vishakha, Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra, Walker, Lisa, Weitzel, Jeffrey N., Wevers, Marike R., Chenevix-Trench, Georgia, Spurdle, Amanda B., Antoniou, Antonis C., Walker, Logan C., Hakkaart, Christopher, Pearson, John F., Marquart, Louise, Dennis, Joe, Wiggins, George A. R., Barnes, Daniel R., Robinson, Bridget A., Mace, Peter D., Aittomaki, Kristiina, Andrulis, Irene L., Arun, Banu K., Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Belhadj, Sami, Berger, Lieke, Blok, Marinus J., Boonen, Susanne E., Borde, Julika, Bradbury, Angela R., Brunet, Joan, Buys, Saundra S., Caligo, Maria A., Campbell, Ian, Chung, Wendy K., Claes, Kathleen B. M., Collonge-Rame, Marie-Agnes, Cook, Jackie, Cosgrove, Casey, Couch, Fergus J., Daly, Mary B., Dandiker, Sita, Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Dhawan, Mallika, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Donaldson, Alan, Eason, Jacqueline, Easton, Douglas F., Ehrencrona, Hans, Engel, Christoph, Evans, D. Gareth, Faust, Ulrike, Feliubadalo, Lidia, Fostira, Florentia, Friedman, Eitan, Frone, Megan, Frost, Debra, Garber, Judy, Gayther, Simon A., Gehrig, Andrea, Gesta, Paul, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Hahnen, Eric, Hake, Christopher R., Hamann, Ute, Hansen, Thomas V. O., Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kemp, Zoe, Kirk, Judy, Konstantopoulou, Irene, Koudijs, Marco, Kwong, Ava, Laitman, Yael, Lalloo, Fiona, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Legrand, Clementine, Leslie, Goska, Lesueur, Fabienne, Mai, Phuong L., Manoukian, Siranoush, Mari, Veronique, Martens, John W. M., McGuffog, Lesley, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Montagna, Marco, Moserle, Lidia, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Nambot, Sophie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Nguyen-Dumont, Tu, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Ott, Claus-Eric, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peixoto, Ana, Perez-Segura, Pedro, Peterlongo, Paolo, Pocza, Timea, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rodriguez, Gustavo C., Ronlund, Karina, Rosenberg, Efraim H., Rossing, Maria, Schmutzler, Rita K., Shah, Payal D., Sharif, Saba, Sharma, Priyanka, Side, Lucy E., Simard, Jacques, Singer, Christian F., Snape, Katie, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Trainer, Alison H., Tripathi, Vishakha, Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra, Walker, Lisa, Weitzel, Jeffrey N., Wevers, Marike R., Chenevix-Trench, Georgia, Spurdle, Amanda B., Antoniou, Antonis C., and Walker, Logan C.

Abstract

The risk of germline copy number variants (CNVs) in BRCA1 and BRCA2 pathogenic variant carriers in breast cancer is assessed, with CNVs overlapping SULT1A1 decreasing breast cancer risk in BRCA1 carriers. The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these results to prioritise a candidate breast cancer risk-modifier gene for laboratory analysis and biological validation. Notably, the HR for deletions in BRCA1 suggested an elevated breast cancer risk estimate (hazard ratio (HR) = 1.21), 95% confidence interval (95% CI = 1.09-1.35) compared with non-CNV pathogenic variants. In contrast, deletions overlapping SULT1A1 suggested a decreased breast cancer risk (HR = 0.73, 95% CI 0.59-0.91) in BRCA1 pathogenic variant carriers. Functional analyses of SULT1A1 showed that reduced mRNA expression in pathogenic BRCA1 variant cells was associated with reduced cellular proliferation and reduced DNA damage after treatment with DNA damaging agents. These data provide evidence that deleterious variants in BRCA1 plus SULT1A1 deletions contribute to variable breast cancer risk in BRCA1 carriers.

Published
2022

10. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Author

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. 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, 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

11. Abnormalities of the long arm of chromosome 21 in 107 patients with hematopoietic disorders: a collaborative retrospective study of the Groupe Français de Cytogénétique Hématologique

Author

Jeandidier, Eric, Dastugue, Nicole, Mugneret, Francine, Lafage-Pochitaloff, Marina, Mozziconacci, Marie-Joëlle, Herens, Christian, Michaux, Lucienne, Verellen-Dumoulin, Christine, Talmant, Pascaline, Cornillet-Lefebvre, Pascale, Luquet, Isabelle, Charrin, Christiane, Barin, Carole, Collonge-Rame, Marie-Agnès, Pérot, Christine, Van den Akker, Jacqueline, Grégoire, Marie-José, Jonveaux, P., Baranger, Laurence, Eclache-Saudreau, Virginie, Pagès, Marie-Pierre, Cabrol, Christine, Terré, Christine, and Berger, Roland

Published
2006
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13. Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

Author

Qian, Frank, Rookus, Matti A., Leslie, Goska, Risch, Harvey A., Greene, Mark H., Aalfs, Cora M., Adank, Muriel A., Adlard, Julian, Agnarsson, Bjarni A., Ahmed, Munaza, Aittomaki, Kristiina, Andrulis, Irene L., Arnold, Norbert, Arun, Banu K., Ausems, Margreet G. E. M., Azzollini, Jacopo, Barrowdale, Daniel, Barwell, Julian, Benitez, Javier, Bialkowska, Katarzyna, Bonadona, Valerie, Borde, Julika, Borg, Ake, Bradbury, Angela R., Brunet, Joan, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Carter, Jonathan, Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M., Collee, J. Margriet, Collonge-Rame, Marie-Agnes, Couch, Fergus J., Daly, Mary B., Delnatte, Capucine, Diez, Orland, Domchek, Susan M., Dorfling, Cecilia M., Eason, Jacqueline, Easton, Douglas F., Eeles, Ros, Engel, Christoph, Evans, D. Gareth, Faivre, Laurence, Feliubado, Lidia, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Garcia-Barberan, Vanesa, Gehrig, Andrea, Glendon, Gord, Godwin, Andrew K., Garcia, Encarna B. Gomez, Hamann, Ute, Hauke, Jan, Hopper, John L., Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, Janavicius, Ramunas, John, Esther M., Karlan, Beth Y., Kets, Carolien M., Laitman, Yael, Lazaro, Conxi, Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne, Loud, Jennifer T., Lubinski, Jan, Lukomska, Alicja, McGuffog, Lesley, Mebirouk, Noura, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Miller, Austin, Montagna, Marco, Mooij, Thea M., Mouret-Fourme, Emmanuelle, Nathanson, Katherine L., Nehoray, Bita, Neuhausen, Susan L., Nevanlinna, Heli, Nielsen, Finn C., Offit, Kenneth, Olah, Edith, Ong, Kai-ren, Oosterwijk, Jan C., Ottini, Laura, Parsons, Michael T., Peterlongo, Paolo, Pfeiler, Georg, Pradhan, Nisha, Radice, Paolo, Ramus, Susan J., Rantala, Johanna, Rennert, Gad, Robson, Mark, Rodriguez, Gustavo C., Salani, Ritu, Scheuner, Maren T., Schmutzler, Rita K., Shah, Payal D., Side, Lucy E., Simard, Jacques, Singer, Christian F., Steinemann, Doris, Stoppa-Lyonnet, Dominique, Tan, Yen Yen, Teixeira, Manuel R., Terry, Mary Beth, Thomassen, Mads, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Tung, Nadine, van Asperen, Christi J., van Engelen, Klaartje, van Rensburg, Elizabeth J., Venat-Bouvet, Laurence, Vierstraete, Jeroen, Wagner, Gabriel, Walker, Lisa, Weitze, Jeffrey N., Yannoukakos, Drakoulis, Antoniou, Antonis C., Goldgar, David E., Olopade, Olufunmilayo, I, Chenevix-Trench, Georgia, Rebbeck, Timothy R., Huo, Dezheng, Qian, Frank, Rookus, Matti A., Leslie, Goska, Risch, Harvey A., Greene, Mark H., Aalfs, Cora M., Adank, Muriel A., Adlard, Julian, Agnarsson, Bjarni A., Ahmed, Munaza, Aittomaki, Kristiina, Andrulis, Irene L., Arnold, Norbert, Arun, Banu K., Ausems, Margreet G. E. M., Azzollini, Jacopo, Barrowdale, Daniel, Barwell, Julian, Benitez, Javier, Bialkowska, Katarzyna, Bonadona, Valerie, Borde, Julika, Borg, Ake, Bradbury, Angela R., Brunet, Joan, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Carter, Jonathan, Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M., Collee, J. Margriet, Collonge-Rame, Marie-Agnes, Couch, Fergus J., Daly, Mary B., Delnatte, Capucine, Diez, Orland, Domchek, Susan M., Dorfling, Cecilia M., Eason, Jacqueline, Easton, Douglas F., Eeles, Ros, Engel, Christoph, Evans, D. Gareth, Faivre, Laurence, Feliubado, Lidia, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Garcia-Barberan, Vanesa, Gehrig, Andrea, Glendon, Gord, Godwin, Andrew K., Garcia, Encarna B. Gomez, Hamann, Ute, Hauke, Jan, Hopper, John L., Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, Janavicius, Ramunas, John, Esther M., Karlan, Beth Y., Kets, Carolien M., Laitman, Yael, Lazaro, Conxi, Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne, Loud, Jennifer T., Lubinski, Jan, Lukomska, Alicja, McGuffog, Lesley, Mebirouk, Noura, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Miller, Austin, Montagna, Marco, Mooij, Thea M., Mouret-Fourme, Emmanuelle, Nathanson, Katherine L., Nehoray, Bita, Neuhausen, Susan L., Nevanlinna, Heli, Nielsen, Finn C., Offit, Kenneth, Olah, Edith, Ong, Kai-ren, Oosterwijk, Jan C., Ottini, Laura, Parsons, Michael T., Peterlongo, Paolo, Pfeiler, Georg, Pradhan, Nisha, Radice, Paolo, Ramus, Susan J., Rantala, Johanna, Rennert, Gad, Robson, Mark, Rodriguez, Gustavo C., Salani, Ritu, Scheuner, Maren T., Schmutzler, Rita K., Shah, Payal D., Side, Lucy E., Simard, Jacques, Singer, Christian F., Steinemann, Doris, Stoppa-Lyonnet, Dominique, Tan, Yen Yen, Teixeira, Manuel R., Terry, Mary Beth, Thomassen, Mads, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Tung, Nadine, van Asperen, Christi J., van Engelen, Klaartje, van Rensburg, Elizabeth J., Venat-Bouvet, Laurence, Vierstraete, Jeroen, Wagner, Gabriel, Walker, Lisa, Weitze, Jeffrey N., Yannoukakos, Drakoulis, Antoniou, Antonis C., Goldgar, David E., Olopade, Olufunmilayo, I, Chenevix-Trench, Georgia, Rebbeck, Timothy R., and Huo, Dezheng

Abstract

BACKGROUND: Height and body mass index (BMI) are associated with higher ovarian cancer risk in the general population, but whether such associations exist among BRCA1/2 mutation carriers is unknown. METHODS: We applied a Mendelian randomisation approach to examine height/BMI with ovarian cancer risk using the Consortium of Investigators for the Modifiers of BRCA1/2 (CIMBA) data set, comprising 14,676 BRCA1 and 7912 BRCA2 mutation carriers, with 2923 ovarian cancer cases. We created a height genetic score (height-GS) using 586 height-associated variants and a BMI genetic score (BMI-GS) using 93 BMI-associated variants. Associations were assessed using weighted Cox models. RESULTS: Observed height was not associated with ovarian cancer risk (hazard ratio [HR]: 1.07 per 10-cm increase in height, 95% confidence interval [CI]: 0.94-1.23). Height-GS showed similar results (HR = 1.02, 95% CI: 0.85-1.23). Higher BMI was significantly associated with increased risk in premenopausal women with HR = 1.25 (95% CI: 1.06-1.48) and HR = 1.59 (95% CI: 1.08-2.33) per 5-kg/m(2) increase in observed and genetically determined BMI, respectively. No association was found for postmenopausal women. Interaction between menopausal status and BMI was significant (P-interaction < 0.05). CONCLUSION: Our observation of a positive association between BMI and ovarian cancer risk in premenopausal BRCA1/2 mutation carriers is consistent with findings in the general population.

Published
2019

14. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Author

Figlioli, Gisella, Bogliolo, Massimo, Catucci, Irene, Caleca, Laura, Viz Lasheras, Sandra, Pujol, Roser, Kiiski, Johanna, I, Muranen, Taru A., Barnes, Daniel R., Dennis, Joe, Michailidou, Kyriaki, Bolla, Manjeet K., Leslie, Goska, Aalfs, Cora M., Adank, Muriel A., Adlard, Julian, Agata, Simona, Cadoo, Karen, Agnarsson, Bjarni A., Ahearn, Thomas, Aittomaki, Kristiina, Ambrosone, Christine B., Andrews, Lesley, Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Arun, Banu K., Asseryanis, Ella, Auber, Bernd, Auvinen, Paivi, Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Barwell, Julian, Freeman, Laura E. Beane, Beauparlant, Charles Joly, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Berger, Raanan, Bermisheva, Marina, Blanco, Amie M., Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Anders, Bojesen, Stig E., Bonanni, Bernardo, Borg, Ake, Brady, Angela F., Brauch, Hiltrud, Brenner, Hermann, Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A., Campa, Daniele, Campbell, Ian G., Canzian, Federico, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Claes, Kathleen B. M., Clarke, Christine L., Collavoli, Anita, Conner, Thomas A., Cox, David G., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S., Ditsch, Nina, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Durda, Katarzyna, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Foulkes, William D., Friebel, Tara M., Friedman, Eitan, Gabrielson, Marike, Gaddam, Pragna, Gago-Dominguez, Manuela, Gao, Chi, Gapstur, Susan M., Garber, Judy, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Gaudet, Mia M., Gayther, Simon A., Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Guenel, Pascal, Gutierrez-Barrera, Angelica M., Haeberle, Lothar, Haiman, Christopher A., Hakansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hein, Alexander, Heyworth, Jane, Hillemanns, Peter, Hollestelle, Antoinette, Hopper, John L., Hosgood, H. Dean, III, Howell, Anthony, Hu, Chunling, Hulick, Peter J., Hunter, David J., Imyanitov, Evgeny N., Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Karlan, Beth Y., Khusnutdinova, Elza, Kitahara, Cari M., Konstantopoulou, Irene, Koutros, Stella, Kraft, Peter, Lambrechts, Diether, Lazaro, Conxi, Le Marchand, Loic, Lester, Jenny, Lesueur, Fabienne, Lilyquist, Jenna, Loud, Jennifer T., Lu, Karen H., Luben, Robert N., Lubinski, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Maurer, Tabea, Mavroudis, Dimitrios, Mebirouk, Noura, Meindl, Alfons, Menon, Usha, Miller, Austin, Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Newman, William G., Nguyen-Dumont, Tu, Nielsen, Finn Cilius, Nielsen, Sarah, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olshan, Andrew F., Olson, Janet E., Olsson, Hakan, Osorio, Ana, Ottini, Laura, Peissel, Bernard, Peixoto, Ana, Peto, Julian, Plaseska-Karanfilska, Dijana, Pocza, Timea, Presneau, Nadege, Angel Pujana, Miquel, Punie, Kevin, Rack, Brigitte, Rantala, Johanna, Rashid, Muhammad U., Rau-Murthy, Rohini, Rennert, Gad, Lejbkowicz, Flavio, Rhenius, Valerie, Romero, Atocha, Rookus, Matti A., Ross, Eric A., Rossing, Maria, Rudaitis, Vilius, Ruebner, Matthias, Saloustros, Emmanouil, Sanden, Kristin, Santamarina, Marta, Scheuner, Maren T., Schmutzler, Rita K., Schneider, Michael, Scott, Christopher, Senter, Leigha, Shah, Mitul, Sharma, Priyanka, Shu, Xiao-Ou, Simard, Jacques, Singer, Christian F., Sohn, Christof, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Steele, Linda, Stoppa-Lyonnet, Dominique, Tapper, William J., Teixeira, Manuel R., Terry, Mary Beth, Thomassen, Mads, Thompson, Jennifer, Thull, Darcy L., Tischkowitz, Marc, Tollenaar, Rob A. E. M., Torres, Diana, Troester, Melissa A., Truong, Therese, Tung, Nadine, Untch, Michael, Vachon, Celine M., van Rensburg, Elizabeth J., van Veen, Elke M., Vega, Ana, Viel, Alessandra, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wendt, Camilla, Wieme, Greet, Wolk, Alicja, Yang, Xiaohong R., Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Dunning, Alison M., Lush, Michael, Wang, Qin, McGuffog, Lesley, Parsons, Michael T., Pharoah, Paul D. P., Fostira, Florentia, Toland, Amanda E., Andrulis, Irene L., Ramus, Susan J., Swerdlow, Anthony J., Greene, Mark H., Chung, Wendy K., Milne, Roger L., Chenevix-Trench, Georgia, Doerk, Thilo, Schmidt, Marjanka K., Easton, Douglas F., Radice, Paolo, Hahnen, Eric, Antoniou, Antonis C., Couch, Fergus J., Nevanlinna, Heli, Surralles, Jordi, Peterlongo, Paolo, Balleine, Rosemary, Baxter, Robert, Braye, Stephen, Carpenter, Jane, Dahlstrom, Jane, Forbes, John, Lee, C. Soon, Marsh, Deborah, Morey, Adrienne, Pathmanathan, Nirmala, Scott, Rodney, Simpson, Peter, Spigelman, Allan, Wilcken, Nicholas, Yip, Desmond, Zeps, Nikolajs, Belotti, Muriel, Bertrand, Ophelie, Birot, Anne-Marie, Buecher, Bruno, Caputo, Sandrine, Dupre, Anais, Fourme, Emmanuelle, Gauthier-Villars, Marion, Golmard, Lisa, Le Mentec, Marine, Moncoutier, Virginie, de Pauw, Antoine, Saule, Claire, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Leone, Mlanie, Bressac-de-Paillerets, Brigitte, Caron, Olivier, Guillaud-Bataille, Marine, Bignon, Yves-Jean, Uhrhammer, Nancy, Bonadona, Valerie, Lasset, Christine, Berthet, Pascaline, Castera, Laurent, Vaur, Dominique, Bourdon, Violaine, Nogues, Catherine, Noguchi, Tetsuro, Popovici, Cornel, Remenieras, Audrey, Sobol, Hagay, Coupier, Isabelle, Pujol, Pascal, Adenis, Claude, Dumont, Aurelie, Revillion, Francoise, Muller, Daniele, Barouk-Simonet, Emmanuelle, Bonnet, Francoise, Bubien, Virginie, Longy, Michel, Sevenet, Nicolas, Gladieff, Laurence, Guimbaud, Rosine, Feillel, Viviane, Toulas, Christine, Dreyfus, Helene, Leroux, Christine Dominique, Peysselon, Magalie, Rebischung, Christine, Legrand, Clementine, Baurand, Amandine, Bertolone, Geoffrey, Coron, Fanny, Faivre, Laurence, Jacquot, Caroline, Lizard, Sarab, Kientz, Caroline, Lebrun, Marine, Prieur, Fabienne, Fert-Ferrer, Sandra, Mari, Vronique, Venat-Bouvet, Laurence, Bezieau, Stephane, Delnatte, Capucine, Mortemousque, Isabelle, Colas, Chrystelle, Coulet, Florence, Soubrier, Florent, Warcoin, Mathilde, Bronner, Myriam, Sokolowska, Johanna, Collonge-Rame, Marie-Agnes, Damette, Alexandre, Gesta, Paul, Lallaoui, Hakima, Chiesa, Jean, Molina-Gomes, Denise, Ingster, Olivier, Manouvrier-Hanu, Sylvie, Lejeune, Sophie, Aghmesheh, Morteza, Greening, Sian, Amor, David, Gattas, Mike, Botes, Leon, Buckley, Michael, Friedlander, Michael, Koehler, Jessica, Meiser, Bettina, Saleh, Mona, Salisbury, Elizabeth, Trainer, Alison, Tucker, Kathy, Antill, Yoland, Dobrovic, Alexander, Fellows, Andrew, Fox, Stephen, Harris, Marion, Nightingale, Sophie, Phillips, Kelly, Sambrook, Joe, Thorne, Heather, Armitage, Shane, Arnold, Leanne, Kefford, Rick, Kirk, Judy, Rickard, Edwina, Bastick, Patti, Beesley, Jonathan, Hayward, Nick, Spurdle, Amanda, Walker, Logan, Beilby, John, Saunders, Christobel, Bennett, Ian, Blackburn, Anneke, Bogwitz, Michael, Gaff, Clara, Lindeman, Geoff, Pachter, Nick, Scott, Clare, Sexton, Adrienne, Visvader, Jane, Taylor, Jessica, Winship, Ingrid, Brennan, Meagan, Brown, Melissa, French, Juliet, Edwards, Stacey, Burgess, Matthew, Burke, Jo, Patterson, Briony, Butow, Phyllis, Culling, Bronwyn, Caldon, Liz, Callen, David, Chauhan, Deepa, Eisenbruch, Maurice, Heiniger, Louise, Chauhan, Manisha, Christian, Alice, Dixon, Joanne, Kidd, Alexa, Cohen, Paul, Colley, Alison, Fenton, Georgina, Crook, Ashley, Dickson, Rebecca, Field, Michael, Cui, James, Cummings, Margaret, Dawson, Sarah-Jane, DeFazio, Anna, Delatycki, Martin, Dudding, Tracy, Edkins, Ted, Farshid, Gelareh, Flanagan, James, Fong, Peter, Forrest, Laura, Gallego-Ortega, David, George, Peter, Gill, Grantley, Kollias, James, Haan, Eric, Hart, Stewart, Jenkins, Mark, Hunt, Clare, Lakhani, Sunil, Lipton, Lara, Lobb, Liz, Mann, Graham, McLachlan, Sue Anne, O'Connell, Shona, O'Sullivan, Sarah, Pieper, Ellen, Robinson, Bridget, Saunus, Jodi, Scott, Elizabeth, Shelling, Andrew, Williams, Rachael, Young, Mary Ann, Figlioli, Gisella, Bogliolo, Massimo, Catucci, Irene, Caleca, Laura, Viz Lasheras, Sandra, Pujol, Roser, Kiiski, Johanna, I, Muranen, Taru A., Barnes, Daniel R., Dennis, Joe, Michailidou, Kyriaki, Bolla, Manjeet K., Leslie, Goska, Aalfs, Cora M., Adank, Muriel A., Adlard, Julian, Agata, Simona, Cadoo, Karen, Agnarsson, Bjarni A., Ahearn, Thomas, Aittomaki, Kristiina, Ambrosone, Christine B., Andrews, Lesley, Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Arun, Banu K., Asseryanis, Ella, Auber, Bernd, Auvinen, Paivi, Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Barwell, Julian, Freeman, Laura E. Beane, Beauparlant, Charles Joly, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Berger, Raanan, Bermisheva, Marina, Blanco, Amie M., Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Anders, Bojesen, Stig E., Bonanni, Bernardo, Borg, Ake, Brady, Angela F., Brauch, Hiltrud, Brenner, Hermann, Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A., Campa, Daniele, Campbell, Ian G., Canzian, Federico, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Claes, Kathleen B. M., Clarke, Christine L., Collavoli, Anita, Conner, Thomas A., Cox, David G., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S., Ditsch, Nina, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Durda, Katarzyna, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Foulkes, William D., Friebel, Tara M., Friedman, Eitan, Gabrielson, Marike, Gaddam, Pragna, Gago-Dominguez, Manuela, Gao, Chi, Gapstur, Susan M., Garber, Judy, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Gaudet, Mia M., Gayther, Simon A., Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Guenel, Pascal, Gutierrez-Barrera, Angelica M., Haeberle, Lothar, Haiman, Christopher A., Hakansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hein, Alexander, Heyworth, Jane, Hillemanns, Peter, Hollestelle, Antoinette, Hopper, John L., Hosgood, H. Dean, III, Howell, Anthony, Hu, Chunling, Hulick, Peter J., Hunter, David J., Imyanitov, Evgeny N., Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Karlan, Beth Y., Khusnutdinova, Elza, Kitahara, Cari M., Konstantopoulou, Irene, Koutros, Stella, Kraft, Peter, Lambrechts, Diether, Lazaro, Conxi, Le Marchand, Loic, Lester, Jenny, Lesueur, Fabienne, Lilyquist, Jenna, Loud, Jennifer T., Lu, Karen H., Luben, Robert N., Lubinski, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Maurer, Tabea, Mavroudis, Dimitrios, Mebirouk, Noura, Meindl, Alfons, Menon, Usha, Miller, Austin, Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Newman, William G., Nguyen-Dumont, Tu, Nielsen, Finn Cilius, Nielsen, Sarah, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olshan, Andrew F., Olson, Janet E., Olsson, Hakan, Osorio, Ana, Ottini, Laura, Peissel, Bernard, Peixoto, Ana, Peto, Julian, Plaseska-Karanfilska, Dijana, Pocza, Timea, Presneau, Nadege, Angel Pujana, Miquel, Punie, Kevin, Rack, Brigitte, Rantala, Johanna, Rashid, Muhammad U., Rau-Murthy, Rohini, Rennert, Gad, Lejbkowicz, Flavio, Rhenius, Valerie, Romero, Atocha, Rookus, Matti A., Ross, Eric A., Rossing, Maria, Rudaitis, Vilius, Ruebner, Matthias, Saloustros, Emmanouil, Sanden, Kristin, Santamarina, Marta, Scheuner, Maren T., Schmutzler, Rita K., Schneider, Michael, Scott, Christopher, Senter, Leigha, Shah, Mitul, Sharma, Priyanka, Shu, Xiao-Ou, Simard, Jacques, Singer, Christian F., Sohn, Christof, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Steele, Linda, Stoppa-Lyonnet, Dominique, Tapper, William J., Teixeira, Manuel R., Terry, Mary Beth, Thomassen, Mads, Thompson, Jennifer, Thull, Darcy L., Tischkowitz, Marc, Tollenaar, Rob A. E. M., Torres, Diana, Troester, Melissa A., Truong, Therese, Tung, Nadine, Untch, Michael, Vachon, Celine M., van Rensburg, Elizabeth J., van Veen, Elke M., Vega, Ana, Viel, Alessandra, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wendt, Camilla, Wieme, Greet, Wolk, Alicja, Yang, Xiaohong R., Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Dunning, Alison M., Lush, Michael, Wang, Qin, McGuffog, Lesley, Parsons, Michael T., Pharoah, Paul D. P., Fostira, Florentia, Toland, Amanda E., Andrulis, Irene L., Ramus, Susan J., Swerdlow, Anthony J., Greene, Mark H., Chung, Wendy K., Milne, Roger L., Chenevix-Trench, Georgia, Doerk, Thilo, Schmidt, Marjanka K., Easton, Douglas F., Radice, Paolo, Hahnen, Eric, Antoniou, Antonis C., Couch, Fergus J., Nevanlinna, Heli, Surralles, Jordi, Peterlongo, Paolo, Balleine, Rosemary, Baxter, Robert, Braye, Stephen, Carpenter, Jane, Dahlstrom, Jane, Forbes, John, Lee, C. Soon, Marsh, Deborah, Morey, Adrienne, Pathmanathan, Nirmala, Scott, Rodney, Simpson, Peter, Spigelman, Allan, Wilcken, Nicholas, Yip, Desmond, Zeps, Nikolajs, Belotti, Muriel, Bertrand, Ophelie, Birot, Anne-Marie, Buecher, Bruno, Caputo, Sandrine, Dupre, Anais, Fourme, Emmanuelle, Gauthier-Villars, Marion, Golmard, Lisa, Le Mentec, Marine, Moncoutier, Virginie, de Pauw, Antoine, Saule, Claire, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Leone, Mlanie, Bressac-de-Paillerets, Brigitte, Caron, Olivier, Guillaud-Bataille, Marine, Bignon, Yves-Jean, Uhrhammer, Nancy, Bonadona, Valerie, Lasset, Christine, Berthet, Pascaline, Castera, Laurent, Vaur, Dominique, Bourdon, Violaine, Nogues, Catherine, Noguchi, Tetsuro, Popovici, Cornel, Remenieras, Audrey, Sobol, Hagay, Coupier, Isabelle, Pujol, Pascal, Adenis, Claude, Dumont, Aurelie, Revillion, Francoise, Muller, Daniele, Barouk-Simonet, Emmanuelle, Bonnet, Francoise, Bubien, Virginie, Longy, Michel, Sevenet, Nicolas, Gladieff, Laurence, Guimbaud, Rosine, Feillel, Viviane, Toulas, Christine, Dreyfus, Helene, Leroux, Christine Dominique, Peysselon, Magalie, Rebischung, Christine, Legrand, Clementine, Baurand, Amandine, Bertolone, Geoffrey, Coron, Fanny, Faivre, Laurence, Jacquot, Caroline, Lizard, Sarab, Kientz, Caroline, Lebrun, Marine, Prieur, Fabienne, Fert-Ferrer, Sandra, Mari, Vronique, Venat-Bouvet, Laurence, Bezieau, Stephane, Delnatte, Capucine, Mortemousque, Isabelle, Colas, Chrystelle, Coulet, Florence, Soubrier, Florent, Warcoin, Mathilde, Bronner, Myriam, Sokolowska, Johanna, Collonge-Rame, Marie-Agnes, Damette, Alexandre, Gesta, Paul, Lallaoui, Hakima, Chiesa, Jean, Molina-Gomes, Denise, Ingster, Olivier, Manouvrier-Hanu, Sylvie, Lejeune, Sophie, Aghmesheh, Morteza, Greening, Sian, Amor, David, Gattas, Mike, Botes, Leon, Buckley, Michael, Friedlander, Michael, Koehler, Jessica, Meiser, Bettina, Saleh, Mona, Salisbury, Elizabeth, Trainer, Alison, Tucker, Kathy, Antill, Yoland, Dobrovic, Alexander, Fellows, Andrew, Fox, Stephen, Harris, Marion, Nightingale, Sophie, Phillips, Kelly, Sambrook, Joe, Thorne, Heather, Armitage, Shane, Arnold, Leanne, Kefford, Rick, Kirk, Judy, Rickard, Edwina, Bastick, Patti, Beesley, Jonathan, Hayward, Nick, Spurdle, Amanda, Walker, Logan, Beilby, John, Saunders, Christobel, Bennett, Ian, Blackburn, Anneke, Bogwitz, Michael, Gaff, Clara, Lindeman, Geoff, Pachter, Nick, Scott, Clare, Sexton, Adrienne, Visvader, Jane, Taylor, Jessica, Winship, Ingrid, Brennan, Meagan, Brown, Melissa, French, Juliet, Edwards, Stacey, Burgess, Matthew, Burke, Jo, Patterson, Briony, Butow, Phyllis, Culling, Bronwyn, Caldon, Liz, Callen, David, Chauhan, Deepa, Eisenbruch, Maurice, Heiniger, Louise, Chauhan, Manisha, Christian, Alice, Dixon, Joanne, Kidd, Alexa, Cohen, Paul, Colley, Alison, Fenton, Georgina, Crook, Ashley, Dickson, Rebecca, Field, Michael, Cui, James, Cummings, Margaret, Dawson, Sarah-Jane, DeFazio, Anna, Delatycki, Martin, Dudding, Tracy, Edkins, Ted, Farshid, Gelareh, Flanagan, James, Fong, Peter, Forrest, Laura, Gallego-Ortega, David, George, Peter, Gill, Grantley, Kollias, James, Haan, Eric, Hart, Stewart, Jenkins, Mark, Hunt, Clare, Lakhani, Sunil, Lipton, Lara, Lobb, Liz, Mann, Graham, McLachlan, Sue Anne, O'Connell, Shona, O'Sullivan, Sarah, Pieper, Ellen, Robinson, Bridget, Saunus, Jodi, Scott, Elizabeth, Shelling, Andrew, Williams, Rachael, and Young, Mary Ann

Abstract

Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PAM, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and pArg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM(-/-) patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors.

Published
2019

15. Genetic Characterization of B-Cell Prolymphocytic Leukemia (B-PLL): A Hierarchical Prognostic Model Involving MYC and TP53 Abnormalities. on Behalf of the Groupe Francophone De Cytogenetique Hematologique (GFCH) and the French Innovative Leukemia Organization (FILO) Group

Author

Chapiro, Elise, primary, Roos-Weil, Damien, additional, Bougacha, Nadia, additional, Gabillaud, Clementine, additional, Dillard, Clémentine, additional, Pramil, Elodie, additional, Yon, Melanie, additional, Maloum, Karim, additional, Settegrana, Catherine, additional, Baseggio, Lucile, additional, Lesty, Claude, additional, Davi, Frederic, additional, Le Garff-Tavernier, Magali, additional, Diop, M'boyba Khadija, additional, Droin, Nathalie M, additional, Dessen, Philippe, additional, Leblond, Veronique, additional, Algrin, Caroline, additional, Bouzy, Simon, additional, Eclache, Virginie, additional, Gaillard, Baptiste, additional, Callet-Bauchu, Evelyne, additional, Muller, Marc, additional, Lefebvre, Christine, additional, Nadal, Nathalie, additional, Ittel, Antoine, additional, Struski, Stéphanie, additional, Collonge-Rame, Marie-Agnes, additional, Quilichini, Benoit, additional, Fert-Ferrer, Sandra, additional, Auger, Nathalie, additional, Radford-Weiss, Isabelle, additional, Wagner, Lena, additional, Scheinost, Sebastian, additional, Zenz, Thorsten, additional, Susin, Santos, additional, Bernard, Olivier, additional, and Nguyen-Khac, Florence, additional

Published
2018
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16. Identical abnormality of the short arm of chromosome 18 in two Philadelphia-positive chronic myelocytic leukemia patients with erythroblastic transformation, resulting in duplication of BCR-ABL1 fusion

Author

Khac, Florence Nguyen, Waill, Marie-Christine, Romana, Serge P, Radford-Weiss, Isabelle, Busson, Maryvonne, Collonge-Rame, Marie-Agnès, Ribadeau-Dumas, Antoine, Piffaut, Marie-Claude, Daniel, Marie-Thérèse, Davi, Frédéric, Merle-Béral, Hélène, Berger, Roland, and Arock, Michel

Published
2002
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17. 14q deletions are associated with trisomy 12, NOTCH1 mutations and unmutated IGHV genes in chronic lymphocytic leukemia and small lymphocytic lymphoma

Author

UCL - (SLuc) Service d'hématologie, Cosson, Adrien, Chapiro, Elise, Belhouachi, Nabila, Cung, Hong-Anh, Keren, Boris, Damm, Frederik, Algrin, Caroline, Lefebvre, Christine, Fert-Ferrer, Sandra, Luquet, Isabelle, Gachard, Nathalie, Mugneret, Francine, Terre, Christine, Collonge-Rame, Marie-Agnes, Michaux, Lucienne, Rafdord-Weiss, Isabelle, Talmant, Pascaline, Veronese, Lauren, Nadal, Nathalie, Struski, Stephanie, Barin, Carole, Helias, Catherine, Lafage, Marina, Lippert, Eric, Auger, Nathalie, Eclache, Virginie, Roos-Weil, Damien, Leblond, Veronique, Settegrana, Catherine, Maloum, Karim, Davi, Frederic, Merle-Beral, Helene, Lesty, Claude, Nguyen-Khac, Florence, Groupe Francophone de Cytogénétique Hématologique, UCL - (SLuc) Service d'hématologie, Cosson, Adrien, Chapiro, Elise, Belhouachi, Nabila, Cung, Hong-Anh, Keren, Boris, Damm, Frederik, Algrin, Caroline, Lefebvre, Christine, Fert-Ferrer, Sandra, Luquet, Isabelle, Gachard, Nathalie, Mugneret, Francine, Terre, Christine, Collonge-Rame, Marie-Agnes, Michaux, Lucienne, Rafdord-Weiss, Isabelle, Talmant, Pascaline, Veronese, Lauren, Nadal, Nathalie, Struski, Stephanie, Barin, Carole, Helias, Catherine, Lafage, Marina, Lippert, Eric, Auger, Nathalie, Eclache, Virginie, Roos-Weil, Damien, Leblond, Veronique, Settegrana, Catherine, Maloum, Karim, Davi, Frederic, Merle-Beral, Helene, Lesty, Claude, Nguyen-Khac, Florence, and Groupe Francophone de Cytogénétique Hématologique

Abstract

Deletions of the long arm of chromosome 14 [del(14q)] are rare but recurrently observed in mature B-cell neoplasms, particularly in chronic lymphocytic leukemia (CLL). To further characterize this aberration, we studied 81 cases with del(14q): 54 of CLL and 27 of small lymphocytic lymphoma (SLL), the largest reported series to date. Using karyotype and fluorescence in situ hybridization (FISH), the most frequent additional abnormality was trisomy 12 (tri12), observed in 28/79 (35%) cases, followed by del13q14 (12/79, 15%), delTP53 (11/80, 14%) delATM (5/79, 6%), and del6q21 (3/76, 4%). IGHV genes were unmutated in 41/53 (77%) patients, with a high frequency of IGHV1-69 (21/52, 40%). NOTCH1 gene was mutated in 14/45 (31%) patients. There was no significant difference in cytogenetic and molecular abnormalities between CLL and SLL. Investigations using FISH and SNP-array demonstrated the heterogeneous size of the 14q deletions. However, a group with the same del(14)(q24.1q32.33) was identified in 48% of cases. In this group, tri12 (P = 0.004) and NOTCH1 mutations (P = 0.02) were significantly more frequent than in the other patients. In CLL patients with del(14q), median treatment-free survival (TFS) was 27 months. In conclusion, del(14q) is associated with tri12 and with pejorative prognostic factors: unmutated IGHV genes (with over-representation of the IGHV1-69 repertoire), NOTCH1 mutations, and a short TFS.

Published
2014

18. NOTCH1 Mutations Are Associated With The 14q Deletion In Chronic Lymphocytic Leukemia (CLL) and Small Lymphocytic Lymphoma (SLL)

Author

Nguyen-Khac, Florence, primary, Cosson, Adrien, additional, Chapiro, Elise, additional, Belhouachi, Nabila, additional, Cung, hong-Anh, additional, Keren, Boris, additional, Damm, Frederik, additional, Algrin, Caroline, additional, Lefebvre, Christine, additional, fert-Ferrer, Sandra, additional, Luquet, Isabelle, additional, Gachard, Nathalie, additional, Mugneret, Francine, additional, Terré, Christine, additional, Collonge-Rame, Marie-Agnes, additional, Michaux, Lucienne, additional, Radford-Weiss, Isabelle, additional, Talmant, Pascaline, additional, Veronese, Lauren, additional, Nadal, Nathalie, additional, Struski, Stephanie, additional, Barin, Carole, additional, Helias, Catherine, additional, Lafage, Marina, additional, Lippert, Éric, additional, Auger, Nathalie, additional, Eclache, Virginie, additional, Settegrana, Catherine, additional, Maloum, Karim, additional, Lesty, CLaude, additional, Davi, Frederic, additional, and Merle-Beral, Hélène, additional

Published
2013
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19. A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers

Author

Ding, Yuan C, McGuffog, Lesley, Healey, Sue, Friedman, Eitan, Laitman, Yael, Paluch-Shimon, Shani, Kaufman, Bella, Liljegren, Annelie, Lindblom, Annika, Olsson, Hakan, Kristoffersson, Ulf, Stenmark Askmalm, Marie, Melin, Beatrice, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Gronwald, Jacek, Huzarski, Tomasz, Cybulski, Cezary, Byrski, Tomasz, Osorio, Ana, Ramony Cajal, Teresa, Stavropoulou, Alexandra V, Benitez, Javier, Hamann, Ute, Rookus, Matti, Aalfs, Cora M, de Lange, Judith L, Meijers-Heijboer, Hanne E J, Oosterwijk, Jan C, van Asperen, Christi J, Gomez Garcia, Encarna B, Hoogerbrugge, Nicoline, Jager, Agnes, van der Luijt, Rob B, Easton, Douglas F, Peock, Susan, Frost, Debra, Ellis, Steve D, Platte, Radka, Fineberg, Elena, Evans, D Gareth, Lalloo, Fiona, Izatt, Louise, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Eccles, Diana, Cole, Trevor, Cook, Jackie, Brewer, Carole, Tischkowitz, Marc, Godwin, Andrew K, Pathak, Harsh, Stoppa-Lyonnet, Dominique, Sinilnikova, Olga M, Mazoyer, Sylvie, Barjhoux, Laure, Leone, Melanie, Gauthier-Villars, Marion, Caux-Moncoutier, Virginie, de Pauw, Antoine, Hardouin, Agnes, Berthet, Pascaline, Dreyfus, Helene, Fert Ferrer, Sandra, Collonge-Rame, Marie-Agnes, Sokolowska, Johanna, Buys, Saundra, Daly, Mary, Miron, Alex, Terry, Mary Beth, Chung, Wendy, John, Esther M, Southey, Melissa, Goldgar, David, Singer, Christian F, Tea, Muy-Kheng Maria, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, Hansen, Thomas V O, Ejlertsen, Bent, Johannsson, Oskar T, Offit, Kenneth, Sarrel, Kara, Gaudet, Mia M, Vijai, Joseph, Robson, Mark, Piedmonte, Marion R, Andrews, Lesley, Cohn, David, DeMars, Leslie R, DiSilvestro, Paul, Rodriguez, Gustavo, Ewart Toland, Amanda, Montagna, Marco, Agata, Simona, Imyanitov, Evgeny, Isaacs, Claudine, Janavicius, Ramunas, Lazaro, Conxi, Blanco, Ignacio, Ramus, Susan J, Sucheston, Lara, Karlan, Beth Y, Gross, Jenny, Ganz, Patricia A, Beattie, Mary S, Schmutzler, Rita K, Wappenschmidt, Barbara, Meindl, Alfons, Arnold, Norbert, Niederacher, Dieter, Preisler-Adams, Sabine, Gadzicki, Dorotehea, Varon-Mateeva, Raymonda, Deissler, Helmut, Gehrig, Andrea, Sutter, Christian, Kast, Karin, Nevanlinna, Heli, Aittomaki, Kristiina, Spurdle, Amanda B, Beesley, Jonathan, Chen, Xiaoqing, Tomlinson, Gail E, Weitzel, Jeffrey, Garber, Judy E, Olopade, Olufunmilayo I, Rubinstein, Wendy S, Tung, Nadine, Blum, Joanne L, Narod, Steven A, Brummel, Sean, Gillen, Daniel L, Lindor, Noralane, Fredericksen, Zachary, Pankratz, Vernon S, Couch, Fergus J, Radice, Paolo, Peterlongo, Paolo, Greene, Mark H, Loud, Jennifer T, Mai, Phuong L, Andrulis, Irene L, Glendon, Gord, Gerdes, Anne-Marie, Birk Jensen, Uffe, Skytte, Anne-Bine, Caligo, Maria A, Lee, Andrew, Chenevix-Trench, Georgia, Antoniou, Antonis C, Neuhausen, Susan L, Ding, Yuan C, McGuffog, Lesley, Healey, Sue, Friedman, Eitan, Laitman, Yael, Paluch-Shimon, Shani, Kaufman, Bella, Liljegren, Annelie, Lindblom, Annika, Olsson, Hakan, Kristoffersson, Ulf, Stenmark Askmalm, Marie, Melin, Beatrice, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Gronwald, Jacek, Huzarski, Tomasz, Cybulski, Cezary, Byrski, Tomasz, Osorio, Ana, Ramony Cajal, Teresa, Stavropoulou, Alexandra V, Benitez, Javier, Hamann, Ute, Rookus, Matti, Aalfs, Cora M, de Lange, Judith L, Meijers-Heijboer, Hanne E J, Oosterwijk, Jan C, van Asperen, Christi J, Gomez Garcia, Encarna B, Hoogerbrugge, Nicoline, Jager, Agnes, van der Luijt, Rob B, Easton, Douglas F, Peock, Susan, Frost, Debra, Ellis, Steve D, Platte, Radka, Fineberg, Elena, Evans, D Gareth, Lalloo, Fiona, Izatt, Louise, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Eccles, Diana, Cole, Trevor, Cook, Jackie, Brewer, Carole, Tischkowitz, Marc, Godwin, Andrew K, Pathak, Harsh, Stoppa-Lyonnet, Dominique, Sinilnikova, Olga M, Mazoyer, Sylvie, Barjhoux, Laure, Leone, Melanie, Gauthier-Villars, Marion, Caux-Moncoutier, Virginie, de Pauw, Antoine, Hardouin, Agnes, Berthet, Pascaline, Dreyfus, Helene, Fert Ferrer, Sandra, Collonge-Rame, Marie-Agnes, Sokolowska, Johanna, Buys, Saundra, Daly, Mary, Miron, Alex, Terry, Mary Beth, Chung, Wendy, John, Esther M, Southey, Melissa, Goldgar, David, Singer, Christian F, Tea, Muy-Kheng Maria, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, Hansen, Thomas V O, Ejlertsen, Bent, Johannsson, Oskar T, Offit, Kenneth, Sarrel, Kara, Gaudet, Mia M, Vijai, Joseph, Robson, Mark, Piedmonte, Marion R, Andrews, Lesley, Cohn, David, DeMars, Leslie R, DiSilvestro, Paul, Rodriguez, Gustavo, Ewart Toland, Amanda, Montagna, Marco, Agata, Simona, Imyanitov, Evgeny, Isaacs, Claudine, Janavicius, Ramunas, Lazaro, Conxi, Blanco, Ignacio, Ramus, Susan J, Sucheston, Lara, Karlan, Beth Y, Gross, Jenny, Ganz, Patricia A, Beattie, Mary S, Schmutzler, Rita K, Wappenschmidt, Barbara, Meindl, Alfons, Arnold, Norbert, Niederacher, Dieter, Preisler-Adams, Sabine, Gadzicki, Dorotehea, Varon-Mateeva, Raymonda, Deissler, Helmut, Gehrig, Andrea, Sutter, Christian, Kast, Karin, Nevanlinna, Heli, Aittomaki, Kristiina, Spurdle, Amanda B, Beesley, Jonathan, Chen, Xiaoqing, Tomlinson, Gail E, Weitzel, Jeffrey, Garber, Judy E, Olopade, Olufunmilayo I, Rubinstein, Wendy S, Tung, Nadine, Blum, Joanne L, Narod, Steven A, Brummel, Sean, Gillen, Daniel L, Lindor, Noralane, Fredericksen, Zachary, Pankratz, Vernon S, Couch, Fergus J, Radice, Paolo, Peterlongo, Paolo, Greene, Mark H, Loud, Jennifer T, Mai, Phuong L, Andrulis, Irene L, Glendon, Gord, Gerdes, Anne-Marie, Birk Jensen, Uffe, Skytte, Anne-Bine, Caligo, Maria A, Lee, Andrew, Chenevix-Trench, Georgia, Antoniou, Antonis C, and Neuhausen, Susan L

Abstract

Background: We previously reported significant associations between genetic variants in insulin receptor substrate 1 (IRS1) and breast cancer risk in women carrying BRCA1 mutations. The objectives of this study were to investigate whether the IRS1 variants modified ovarian cancer risk and were associated with breast cancer risk in a larger cohort of BRCA1 and BRCA2 mutation carriers. less thanbrgreater than less thanbrgreater thanMethods: IRS1 rs1801123, rs1330645, and rs1801278 were genotyped in samples from 36 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Data were analyzed by a retrospective cohort approach modeling the associations with breast and ovarian cancer risks simultaneously. Analyses were stratified by BRCA1 and BRCA2 status and mutation class in BRCA1 carriers. less thanbrgreater than less thanbrgreater thanResults: Rs1801278 (Gly972Arg) was associated with ovarian cancer risk for both BRCA1 (HR, 1.43; 95% confidence interval (CI), 1.06-1.92; P = 0.019) and BRCA2 mutation carriers (HR, 2.21; 95% CI, 1.39-3.52, P = 0.0008). For BRCA1 mutation carriers, the breast cancer risk was higher in carriers with class II mutations than class I mutations (class II HR, 1.86; 95% CI, 1.28-2.70; class I HR, 0.86; 95%CI, 0.69-1.09; P-difference, 0.0006). Rs13306465 was associated with ovarian cancer risk in BRCA1 class II mutation carriers (HR, 2.42; P = 0.03). less thanbrgreater than less thanbrgreater thanConclusion: The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like growth factor and insulin signaling, modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers and breast cancer risk in BRCA1 class II mutation carriers. less thanbrgreater than less thanbrgreater thanImpact: These findings may prove useful for risk prediction for breast and ovarian cancers in BRCA1 and BRCA2 mutation carriers., Funding Agencies|NIH|R01CA74415P30CA033752|Israel cancer association||Mutua Madrilena Foundation||Red de Investigacion en Cancer|RD06/0020/1160|Spanish Ministry of Science and Innovation|FIS P1081120SAF2010-20493|Cancer Research UK|C1287/A10118C1287/A11990C5047/A8385|NIHR||NEYE Foundation||Clinical Genetics Branch, DCEG National Cancer Institute (NCI)||Community Oncology and Prevention Trials Program-COPTRG National Cancer Institute (NCI)||Russian Foundation for Basic Research|10-04-9211010-04-9260111-04-00227|Federal Agency for Science and Innovations|02.740.11.0780|Royal Society|JP090615|Research Council of Lithuania|LIG-19/2010|Institut Catala dOncologia (ICO)||Asociacion Espanola Contra el Cancer, Spanish Health Research Fund||Carlos III Health Institute||Catalan Health Institute||Autonomous Government of Catalonia|ISCIIIRETIC RD06/0020/1051PI10/01422PI10/314882009SGR290|American Cancer Society|120950-SIOP-06-258-06-COUN|German Cancer Aid|DKH 109076|Helsinki University Central Hospital||Academy of Finland|132473|Finnish Cancer Society||Sigrid Juselius Foundation||Canadian Institutes of Health Research||Canadian Breast Cancer Research Alliance|019511|NCI, under RFA|CA-06-503|Cancer Care Ontario|U01 CA69467|Cancer Prevention Institute of California|U01 CA69417|Columbia University|U01 CA69398|Fox Chase Cancer Center|U01 CA69631|Huntsman Cancer Institute|U01 CA69446|University of Melbourne|U01 CA69638|National Health and Medical Research Council of Australia||New South Wales Cancer Council||Victorian Health Promotion Foundation (Australia)||Victorian Breast Cancer Research Consortium||NITA|P01 CA16094R01 CA22435|National Institutes of Health|P30 CA13696P30 ES009089UL1 RR025764R01278978|National Center for Research Resources||National Center for Advancing Translational Sciences||NCI|P30 CA042014|NHMRC|145684288704454508|US NCI at the NIH|NO2-CP-11019-50N02-CP-65504|Westat, Inc.||Breast cancer Research Foundation||Komen Foundation for the Cure||Dutch Cancer Society

Published
2012
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20. Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers

Author

Spurdle, Amanda B., Marquart, Louise, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga, Wan, Fei, Chen, Xiaoqing, Beesley, Jonathan, Singer, Christian F., Dressler, Anne-Catharine, Gschwantler-Kaulich, Daphne, Blum, Joanne L., Tung, Nadine, Weitzel, Jeff, Lynch, Henry, Garber, Judy, Easton, Douglas F., Peock, Susan, Cook, Margaret, Oliver, Clare T., Frost, Debra, Conroy, Don, Evans, D. Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Davidson, Rosemarie, Chu, Carol, Eccles, Diana, Selkirk, Christina G., Daly, Mary, Isaacs, Claudine, Stoppa-Lyonnet, Dominique, Sinilnikova, Olga M., Buecher, Bruno, Belotti, Muriel, Mazoyer, Sylvie, Barjhoux, Laure, Verny-Pierre, Carole, Lasset, Christine, Dreyfus, Helene, Pujol, Pascal, Collonge-Rame, Marie-Agnes, Rookus, Matti A., Verhoef, Senno, Kriege, Mieke, Hoogerbrugge, Nicoline, Ausems, Margreet G. E. M., van Os, Theo A., Wijnen, Juul, Devilee, Peter, Meijers-Heijboer, Hanne E. J., Blok, Marinus J., Heikkinen, Tuomas, Nevanlinna, Heli, Jakubowska, Anna, Lubinski, Jan, Huzarski, Tomasz, Byrski, Tomasz, Durocher, Francine, Couch, Fergus J., Lindor, Noralane M., Wang, Xianshu, Thomassen, Mads, Domchek, Susan, Nathanson, Kate, Caligo, M. A., Jernström, Helena, Liljegren, Annelie, Ehrencrona, Hans, Karlsson, Per, Ganz, Patricia A., Olopade, Olufunmilayo I., Tomlinson, Gail, Neuhausen, Susan, Antoniou, Antonis C., Chenevix-Trench, Georgia, Rebbeck, Timothy R., Spurdle, Amanda B., Marquart, Louise, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga, Wan, Fei, Chen, Xiaoqing, Beesley, Jonathan, Singer, Christian F., Dressler, Anne-Catharine, Gschwantler-Kaulich, Daphne, Blum, Joanne L., Tung, Nadine, Weitzel, Jeff, Lynch, Henry, Garber, Judy, Easton, Douglas F., Peock, Susan, Cook, Margaret, Oliver, Clare T., Frost, Debra, Conroy, Don, Evans, D. Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Davidson, Rosemarie, Chu, Carol, Eccles, Diana, Selkirk, Christina G., Daly, Mary, Isaacs, Claudine, Stoppa-Lyonnet, Dominique, Sinilnikova, Olga M., Buecher, Bruno, Belotti, Muriel, Mazoyer, Sylvie, Barjhoux, Laure, Verny-Pierre, Carole, Lasset, Christine, Dreyfus, Helene, Pujol, Pascal, Collonge-Rame, Marie-Agnes, Rookus, Matti A., Verhoef, Senno, Kriege, Mieke, Hoogerbrugge, Nicoline, Ausems, Margreet G. E. M., van Os, Theo A., Wijnen, Juul, Devilee, Peter, Meijers-Heijboer, Hanne E. J., Blok, Marinus J., Heikkinen, Tuomas, Nevanlinna, Heli, Jakubowska, Anna, Lubinski, Jan, Huzarski, Tomasz, Byrski, Tomasz, Durocher, Francine, Couch, Fergus J., Lindor, Noralane M., Wang, Xianshu, Thomassen, Mads, Domchek, Susan, Nathanson, Kate, Caligo, M. A., Jernström, Helena, Liljegren, Annelie, Ehrencrona, Hans, Karlsson, Per, Ganz, Patricia A., Olopade, Olufunmilayo I., Tomlinson, Gail, Neuhausen, Susan, Antoniou, Antonis C., Chenevix-Trench, Georgia, and Rebbeck, Timothy R.

Abstract

Background: Inherited BRCA1 and BRCA2 (BRCA1/2) mutations confer elevated breast cancer risk. Knowledge of factors that can improve breast cancer risk assessment in BRCA1/2 mutation carriers may improve personalized cancer prevention strategies. Methods: A cohort of 5,546 BRCA1 and 2,865 BRCA2 mutation carriers was used to evaluate risk of breast cancer associated with BARD1 Cys557Ser. In a second nonindependent cohort of 1,537 of BRCA1 and 839 BRCA2 mutation carriers, BARD1 haplotypes were also evaluated. Results: The BARD1 Cys557Ser variant was not significantly associated with risk of breast cancer from single SNP analysis, with a pooled effect estimate of 0.90 (95% CI: 0.71-1.15) in BRCA1 carriers and 0.87 (95% CI: 0.59-1.29) in BRCA2 carriers. Further analysis of haplotypes at BARD1 also revealed no evidence that additional common genetic variation not captured by Cys557Ser was associated with breast cancer risk. Conclusion: Evidence to date does not support a role for BARD1 variation, including the Cy557Ser variant, as a modifier of risk in BRCA1/2 mutation carriers. Impact: Interactors of BRCA1/2 have been implicated as modifiers of BRCA1/2-associated cancer risk. Our finding that BARD1 does not contribute to this risk modification may focus research on other genes that do modify BRCA1/2-associated cancer risk.

Published
2011
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21. Exploring the link between MORF4L1 and risk of breast cancer

Author

Martrat, Griselda, Maxwell, Christopher A., Tominaga, Emiko, Porta-de-la-Riva, Montserrat, Bonifaci, Nuria, Gomez-Baldo, Laia, Bogliolo, Massimo, Lazaro, Conxi, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernandez-Rodriguez, Juana, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Kuehl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramirez, Maria J., Castella, Maria, Hernandez, Gonzalo, Easton, Douglas F., Peock, Susan, Cook, Margaret, Oliver, Clare T., Frost, Debra, Platte, Radka, Evans, D. Gareth, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J., Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Chen, Xiaoqing, Beesley, Jonathan, Rookus, Matti A., Verhoef, Senno, Tilanus-Linthorst, Madeleine A., Vreeswijk, Maaike P., Asperen, Christi J., Bodmer, Danielle, Ausems, Margreet G. E. M., van Os, Theo A., Blok, Marinus J., Meijers-Heijboer, Hanne E. J., Hogervorst, Frans B. L., Goldgar, David E., Buys, Saundra, John, Esther M., Miron, Alexander, Southey, Melissa, Daly, Mary B., Harbst, Katja, Borg, Ake, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Timothy R., Johannsson, Oskar Thor, Couch, Fergus J., Wang, Xianshu, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Vctor, Pientka, Friederike K., Depping, Reinhard, Caldes, Trinidad, Osorio, Ana, Benitez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K., Imyanitov, Evgeny N., Janavicius, Ramunas, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, de Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Ferrer, Sandra Fert, Collonge-Rame, Marie-Agnes, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M., Antoniou, Antonis C., Ceron, Julian, Tominaga, Kaoru, Surralles, Jordi, Angel Pujana, Miguel, Martrat, Griselda, Maxwell, Christopher A., Tominaga, Emiko, Porta-de-la-Riva, Montserrat, Bonifaci, Nuria, Gomez-Baldo, Laia, Bogliolo, Massimo, Lazaro, Conxi, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernandez-Rodriguez, Juana, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Kuehl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramirez, Maria J., Castella, Maria, Hernandez, Gonzalo, Easton, Douglas F., Peock, Susan, Cook, Margaret, Oliver, Clare T., Frost, Debra, Platte, Radka, Evans, D. Gareth, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J., Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Chen, Xiaoqing, Beesley, Jonathan, Rookus, Matti A., Verhoef, Senno, Tilanus-Linthorst, Madeleine A., Vreeswijk, Maaike P., Asperen, Christi J., Bodmer, Danielle, Ausems, Margreet G. E. M., van Os, Theo A., Blok, Marinus J., Meijers-Heijboer, Hanne E. J., Hogervorst, Frans B. L., Goldgar, David E., Buys, Saundra, John, Esther M., Miron, Alexander, Southey, Melissa, Daly, Mary B., Harbst, Katja, Borg, Ake, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Timothy R., Johannsson, Oskar Thor, Couch, Fergus J., Wang, Xianshu, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Vctor, Pientka, Friederike K., Depping, Reinhard, Caldes, Trinidad, Osorio, Ana, Benitez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K., Imyanitov, Evgeny N., Janavicius, Ramunas, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, de Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Ferrer, Sandra Fert, Collonge-Rame, Marie-Agnes, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M., Antoniou, Antonis C., Ceron, Julian, Tominaga, Kaoru, Surralles, Jordi, and Angel Pujana, Miguel

Abstract

Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. Methods: Protein physical interactions were screened using the yeast two-hybrid system. Co-affinity purifications and endogenous co-immunoprecipitation assays were performed to corroborate interactions. Biochemical and functional assays in human, mouse and Caenorhabditis elegans models were carried out to characterize pathway components. Thirteen FANCD2-monoubiquitinylation-positive FA cell lines excluded for genetic defects in the downstream pathway components and 300 familial BrCa patients negative for BRCA1/2 mutations were analyzed for genetic mutations. Common genetic variants were genotyped in 9,573 BRCA1/2 mutation carriers for associations with BrCa risk. Results: A previously identified co-purifying protein with PALB2 was identified, MRG15 (MORF4L1 gene). Results in human, mouse and C. elegans models delineate molecular and functional relationships with BRCA2, PALB2, RAD51 and RPA1 that suggest a role for MRG15 in the repair of DNA double-strand breaks. Mrg15-deficient murine embryonic fibroblasts showed moderate sensitivity to g-irradiation relative to controls and reduced formation of Rad51 nuclear foci. Examination of mutants of MRG15 and BRCA2 C. elegans orthologs revealed phenocopy by accumulation of RPA-1 (human RPA1) nuclear foci and aberrant chromosomal compactions in meiotic cells. However, no alterations or mutations were identified for MRG15/MORF4L1 in unclassified FA patients and BrCa familial cases. Finally, no significant associations between common MORF4L1 variants and BrCa risk for BRCA1 or BRCA2 mutation carriers were identified: rs7164529, P(trend) = 0.45 and 0.05, P(2df) = 0.51 and 0.14, respectively; and rs10519219, P(trend) =

Published
2011
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22. Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer

Author

Maxwell, Christopher A., Benitez, Javier, Gomez-Baldo, Laia, Osorio, Ana, Bonifaci, Nuria, Fernandez-Ramires, Ricardo, Costes, Sylvain V., Guino, Elisabet, Chen, Helen, Evans, Gareth J. R., Mohan, Pooja, Catala, Isabel, Petit, Anna, Aguilar, Helena, Villanueva, Alberto, Aytes, Alvaro, Serra-Musach, Jordi, Rennert, Gad, Lejbkowicz, Flavio, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Ripamonti, Carla B., Bonanni, Bernardo, Viel, Alessandra, Allavena, Anna, Bernard, Loris, Radice, Paolo, Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Dubrovsky, Maya, Milgrom, Roni, Jakubowska, Anna, Cybulski, Cezary, Gorski, Bohdan, Jaworska, Katarzyna, Durda, Katarzyna, Sukiennicki, Grzegorz, Lubinski, Jan, Shugart, Yin Yao, Domchek, Susan M., Letrero, Richard, Weber, Barbara L., Hogervorst, Frans B. L., Rookus, Matti A., Collee, J. Margriet, Devilee, Peter, Ligtenberg, Marjolijn J., van der Luijt, Rob B., Aalfs, Cora M., Waisfisz, Quinten, Wijnen, Juul, van Roozendaal, Cornelis E. P., Easton, Douglas F., Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Harrington, Patricia, Evans, D. Gareth, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Eccles, Diana, Douglas, Fiona, Brewer, Carole, Nevanlinna, Heli, Heikkinen, Tuomas, Couch, Fergus J., Lindor, Noralane M., Wang, Xianshu, Godwin, Andrew K., Caligo, Maria A., Lombardi, Grazia, Loman, Niklas, Karlsson, Per, Ehrencrona, Hans, von Wachenfeldt, Anna, Barkardottir, Rosa Bjork, Hamann, Ute, Rashid, Muhammad U., Lasa, Adriana, Caldes, Trinidad, Andres, Raquel, Schmitt, Michael, Assmann, Volker, Stevens, Kristen, Offit, Kenneth, Curado, Joao, Tilgner, Hagen, Guigo, Roderic, Aiza, Gemma, Brunet, Joan, Castellsague, Joan, Martrat, Griselda, Urruticoechea, Ander, Blanco, Ignacio, Tihomirova, Laima, Goldgar, David E., Buys, Saundra, John, Esther M., Miron, Alexander, Southey, Melissa, Daly, Mary B., Schmutzler, Rita K., Wappenschmidt, Barbara, Meindl, Alfons, Arnold, Norbert, Deissler, Helmut, Varon-Mateeva, Raymonda, Sutter, Christian, Niederacher, Dieter, Imyamitov, Evgeny, Sinilnikova, Olga M., Stoppa-Lyonne, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, de Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Ferrer, Sandra Fert, Collonge-Rame, Marie-Agnes, Mortemousque, Isabelle, Spurdle, Amanda B., Beesley, Jonathan, Chen, Xiaoqing, Healey, Sue, Barcellos-Hoff, Mary Helen, Vidal, Marc, Gruber, Stephen B., Lazaro, Conxi, Capella, Gabriel, McGuffog, Lesley, Nathanson, Katherine L., Antoniou, Antonis C., Chenevix-Trench, Georgia, Fleisch, Markus C., Moreno, Victor, Angel Pujana, Miguel, Maxwell, Christopher A., Benitez, Javier, Gomez-Baldo, Laia, Osorio, Ana, Bonifaci, Nuria, Fernandez-Ramires, Ricardo, Costes, Sylvain V., Guino, Elisabet, Chen, Helen, Evans, Gareth J. R., Mohan, Pooja, Catala, Isabel, Petit, Anna, Aguilar, Helena, Villanueva, Alberto, Aytes, Alvaro, Serra-Musach, Jordi, Rennert, Gad, Lejbkowicz, Flavio, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Ripamonti, Carla B., Bonanni, Bernardo, Viel, Alessandra, Allavena, Anna, Bernard, Loris, Radice, Paolo, Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Dubrovsky, Maya, Milgrom, Roni, Jakubowska, Anna, Cybulski, Cezary, Gorski, Bohdan, Jaworska, Katarzyna, Durda, Katarzyna, Sukiennicki, Grzegorz, Lubinski, Jan, Shugart, Yin Yao, Domchek, Susan M., Letrero, Richard, Weber, Barbara L., Hogervorst, Frans B. L., Rookus, Matti A., Collee, J. Margriet, Devilee, Peter, Ligtenberg, Marjolijn J., van der Luijt, Rob B., Aalfs, Cora M., Waisfisz, Quinten, Wijnen, Juul, van Roozendaal, Cornelis E. P., Easton, Douglas F., Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Harrington, Patricia, Evans, D. Gareth, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Eccles, Diana, Douglas, Fiona, Brewer, Carole, Nevanlinna, Heli, Heikkinen, Tuomas, Couch, Fergus J., Lindor, Noralane M., Wang, Xianshu, Godwin, Andrew K., Caligo, Maria A., Lombardi, Grazia, Loman, Niklas, Karlsson, Per, Ehrencrona, Hans, von Wachenfeldt, Anna, Barkardottir, Rosa Bjork, Hamann, Ute, Rashid, Muhammad U., Lasa, Adriana, Caldes, Trinidad, Andres, Raquel, Schmitt, Michael, Assmann, Volker, Stevens, Kristen, Offit, Kenneth, Curado, Joao, Tilgner, Hagen, Guigo, Roderic, Aiza, Gemma, Brunet, Joan, Castellsague, Joan, Martrat, Griselda, Urruticoechea, Ander, Blanco, Ignacio, Tihomirova, Laima, Goldgar, David E., Buys, Saundra, John, Esther M., Miron, Alexander, Southey, Melissa, Daly, Mary B., Schmutzler, Rita K., Wappenschmidt, Barbara, Meindl, Alfons, Arnold, Norbert, Deissler, Helmut, Varon-Mateeva, Raymonda, Sutter, Christian, Niederacher, Dieter, Imyamitov, Evgeny, Sinilnikova, Olga M., Stoppa-Lyonne, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, de Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Ferrer, Sandra Fert, Collonge-Rame, Marie-Agnes, Mortemousque, Isabelle, Spurdle, Amanda B., Beesley, Jonathan, Chen, Xiaoqing, Healey, Sue, Barcellos-Hoff, Mary Helen, Vidal, Marc, Gruber, Stephen B., Lazaro, Conxi, Capella, Gabriel, McGuffog, Lesley, Nathanson, Katherine L., Antoniou, Antonis C., Chenevix-Trench, Georgia, Fleisch, Markus C., Moreno, Victor, and Angel Pujana, Miguel

Abstract

Differentiated mammary epithelium shows apicobasal polarity, and loss of tissue organization is an early hallmark of breast carcinogenesis. In BRCA1 mutation carriers, accumulation of stem and progenitor cells in normal breast tissue and increased risk of developing tumors of basal-like type suggest that BRCA1 regulates stem/progenitor cell proliferation and differentiation. However, the function of BRCA1 in this process and its link to carcinogenesis remain unknown. Here we depict a molecular mechanism involving BRCA1 and RHAMM that regulates apicobasal polarity and, when perturbed, may increase risk of breast cancer. Starting from complementary genetic analyses across families and populations, we identified common genetic variation at the low-penetrance susceptibility HMMR locus (encoding for RHAMM) that modifies breast cancer risk among BRCA1, but probably not BRCA2, mutation carriers: n = 7,584, weighted hazard ratio ((w)HR) = 1.09 (95% CI 1.02-1.16), p(trend) = 0.017; and n = 3,965, (w)HR = 1.04 (95% CI 0.94-1.16), p(trend) = 0.43; respectively. Subsequently, studies of MCF10A apicobasal polarization revealed a central role for BRCA1 and RHAMM, together with AURKA and TPX2, in essential reorganization of microtubules. Mechanistically, reorganization is facilitated by BRCA1 and impaired by AURKA, which is regulated by negative feedback involving RHAMM and TPX2. Taken together, our data provide fundamental insight into apicobasal polarization through BRCA1 function, which may explain the expanded cell subsets and characteristic tumor type accompanying BRCA1 mutation, while also linking this process to sporadic breast cancer through perturbation of HMMR/RHAMM.

Published
2011
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23. Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers

Author

Ramus, Susan J, Kartsonaki, Christiana, A Gayther, Simon, D P Pharoah, Paul, M Sinilnikova, Olga, Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Healey, Sue, J Couch, Fergus, Wang, Xianshu, Fredericksen, Zachary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Allavena, Anna, Ottini, Laura, Papi, Laura, Gismondi, Viviana, Capra, Fabio, Radice, Paolo, H Greene, Mark, L Mai, Phuong, L Andrulis, Irene, Glendon, Gord, Ozcelik, Hilmi, Thomassen, Mads, Gerdes, Anne-Marie, A Kruse, Torben, Cruger, Dorthe, Birk Jensen, Uffe, Adelaide Caligo, Maria, Olsson, Hakan, Lindblom, Annika, Arver, Brita, Karlsson, Per, Stenmark Askmalm, Marie, Borg, Ake, L Neuhausen, Susan, Chun Ding, Yuan, L Nathanson, Katherine, M Domchek, Susan, Jakubowska, Anna, Lubinski, Jan, Huzarski, Tomasz, Byrski, Tomasz, Gronwald, Jacek, Gorski, Bohdan, Cybulski, Cezary, Debniak, Tadeusz, Osorio, Ana, Tejada, Maria-Isabel, Benitez, Javier, Hamann, Ute, A Rookus, Matti, Verhoef, Senno, A Tilanus-Linthorst, Madeleine, P Vreeswijk, Maaike, Bodmer, Danielle, G E M Ausems, Margreet, A van Os, Theo, J Asperen, Christi, J Blok, Marinus, E J Meijers-Heijboer, Hanne, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, M Dunning, Alison, Gareth Evans, D, Eeles, Ros, Cole, Trevor, Hodgson, Shirley, J Morrison, Patrick, Porteous, Mary, John Kennedy, M, T Rogers, Mark, E Side, Lucy, Donaldson, Alan, Gregory, Helen, Godwin, Andrew, Moncoutier, Virginie, Castera, Laurent, Mazoyer, Sylvie, Bonadona, Valerie, Leroux, Dominique, Faivre, Laurence, Lidereau, Rosette, Nogues, Catherine, Bignon, Yves-Jean, Prieur, Fabienne, Collonge-Rame, Marie-Agnes, Venat-Bouvet, Laurence, Fert-Ferrer, Sandra, Miron, Alex, S Buys, Saundra, L Hopper, John, B Daly, Mary, M John, Esther, Beth Terry, Mary, Goldgar, David, V O Hansen, Thomas, Jonson, Lars, Ejlertsen, Bent, A Agnarsson, Bjarni, Offit, Kenneth, Kirchhoff, Tomas, Vijai, Joseph, V C Dutra-Clarke, Ana, A Przybylo, Jennifer, Montagna, Marco, Casella, Cinzia, N Imyanitov, Evgeny, Janavicius, Ramunas, Blanco, Ignacio, Lazaro, Conxi, B Moysich, Kirsten, Y Karlan, Beth, Gross, Jenny, Schmutzler, Rita, Wappenschmidt, Barbara, Meindl, Alfons, Fiebig, Britta, Sutter, Christian, Arnold, Norbert, Deissler, Helmut, Varon-Mateeva, Raymonda, Kast, Karin, Niederacher, Dieter, Gadzicki, Dorothea, Caldes, Trinidad, Nevanlinna, Heli, Aittomaeki, Kristiina, Simard, Jacques, Soucy, Penny, B Spurdle, Amanda, Holland, Helene, Chenevix-Trench, Georgia, F Easton, Douglas, C Antoniou, Antonis, Ramus, Susan J, Kartsonaki, Christiana, A Gayther, Simon, D P Pharoah, Paul, M Sinilnikova, Olga, Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Healey, Sue, J Couch, Fergus, Wang, Xianshu, Fredericksen, Zachary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Allavena, Anna, Ottini, Laura, Papi, Laura, Gismondi, Viviana, Capra, Fabio, Radice, Paolo, H Greene, Mark, L Mai, Phuong, L Andrulis, Irene, Glendon, Gord, Ozcelik, Hilmi, Thomassen, Mads, Gerdes, Anne-Marie, A Kruse, Torben, Cruger, Dorthe, Birk Jensen, Uffe, Adelaide Caligo, Maria, Olsson, Hakan, Lindblom, Annika, Arver, Brita, Karlsson, Per, Stenmark Askmalm, Marie, Borg, Ake, L Neuhausen, Susan, Chun Ding, Yuan, L Nathanson, Katherine, M Domchek, Susan, Jakubowska, Anna, Lubinski, Jan, Huzarski, Tomasz, Byrski, Tomasz, Gronwald, Jacek, Gorski, Bohdan, Cybulski, Cezary, Debniak, Tadeusz, Osorio, Ana, Tejada, Maria-Isabel, Benitez, Javier, Hamann, Ute, A Rookus, Matti, Verhoef, Senno, A Tilanus-Linthorst, Madeleine, P Vreeswijk, Maaike, Bodmer, Danielle, G E M Ausems, Margreet, A van Os, Theo, J Asperen, Christi, J Blok, Marinus, E J Meijers-Heijboer, Hanne, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, M Dunning, Alison, Gareth Evans, D, Eeles, Ros, Cole, Trevor, Hodgson, Shirley, J Morrison, Patrick, Porteous, Mary, John Kennedy, M, T Rogers, Mark, E Side, Lucy, Donaldson, Alan, Gregory, Helen, Godwin, Andrew, Moncoutier, Virginie, Castera, Laurent, Mazoyer, Sylvie, Bonadona, Valerie, Leroux, Dominique, Faivre, Laurence, Lidereau, Rosette, Nogues, Catherine, Bignon, Yves-Jean, Prieur, Fabienne, Collonge-Rame, Marie-Agnes, Venat-Bouvet, Laurence, Fert-Ferrer, Sandra, Miron, Alex, S Buys, Saundra, L Hopper, John, B Daly, Mary, M John, Esther, Beth Terry, Mary, Goldgar, David, V O Hansen, Thomas, Jonson, Lars, Ejlertsen, Bent, A Agnarsson, Bjarni, Offit, Kenneth, Kirchhoff, Tomas, Vijai, Joseph, V C Dutra-Clarke, Ana, A Przybylo, Jennifer, Montagna, Marco, Casella, Cinzia, N Imyanitov, Evgeny, Janavicius, Ramunas, Blanco, Ignacio, Lazaro, Conxi, B Moysich, Kirsten, Y Karlan, Beth, Gross, Jenny, Schmutzler, Rita, Wappenschmidt, Barbara, Meindl, Alfons, Fiebig, Britta, Sutter, Christian, Arnold, Norbert, Deissler, Helmut, Varon-Mateeva, Raymonda, Kast, Karin, Niederacher, Dieter, Gadzicki, Dorothea, Caldes, Trinidad, Nevanlinna, Heli, Aittomaeki, Kristiina, Simard, Jacques, Soucy, Penny, B Spurdle, Amanda, Holland, Helene, Chenevix-Trench, Georgia, F Easton, Douglas, and C Antoniou, Antonis

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 x 10(-9)) and BRCA2 mutation carriers (hazard ratio of ovarian cancer = 0.78, 95% confidence interval = 0.67 to 0.90; P = 5.5 x 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.

Published
2011
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24. Specific Chromosomal IG Translocations Have Different Prognosis In Chronic Lymphocytic Leukemia

Author

Nguyen-Khac, Florence, primary, Lesty, CLaude, additional, Chapiro, Elise, additional, Grelier, Aurore, additional, Luquet, Isabelle, additional, Radford-Weiss, Isabelle, additional, Fertferrer, Sandra, additional, Callet-Bauchu, Evelyne, additional, Lefebvre, Christine, additional, Lippert, Eric, additional, Terré, Christine, additional, Michaux, Lucienne, additional, Collonge-Rame, Marie-Agnes, additional, Barin, Carole, additional, Mugneret, Francine, additional, Talmant, Pascaline, additional, Taviaux, Sylvie, additional, Struski, Stephanie, additional, Eclache, Virginie, additional, Gervais, Carine, additional, Quilichini, Benoit, additional, Gachard, Nathalie, additional, Richebourg, Steven, additional, Dastugue, Nicole, additional, Settegrana, Catherine, additional, Davi, Frederic, additional, Maloum, Karim, additional, and Merle-Beral, Helene, additional

Published
2010
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25. Chromosomal abnormalities in transformed Ph‐negative myeloproliferative neoplasms are associated to the transformation subtype and independent of JAK2 and the TET2 mutations

Author

Nguyen‐Khac, Florence, primary, Lesty, Claude, additional, Eclache, Virginie, additional, Couronné, Lucile, additional, Kosmider, Olivier, additional, Andrieux, Joris, additional, Collonge‐Rame, Marie‐Agnes, additional, Penther, Dominique, additional, Lafage, Marina, additional, Bilhou‐Nabera, Chrystele, additional, Chapiro, Elise, additional, Mozziconacci, Marie‐Joelle, additional, Mugneret, Francine, additional, Gachard, Nathalie, additional, Nadal, Nathalie, additional, Lippert, Eric, additional, Struski, Stephanie, additional, Dastugue, Nicole, additional, Cabrol, Christine, additional, and Bernard, Olivier A., additional

Published
2010
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26. Chromosomal Abnormalities in Transformed Ph-Negative Myeloproliferative Neoplasm Are Independent of the JAK2 and the TET2 Statuses.

Author

Nguyen-Khac, Florence, primary, Couronne, Lucile, additional, Eclache, Virginie, additional, Andrieux, Joris, additional, Lippert, Eric, additional, Kosmider, Olivier, additional, Mugneret, Francine, additional, Collonge-Rame, Marie-Agnes, additional, Penther, Dominique, additional, Lafage, Marina, additional, Gachard, Nathalie, additional, Nadal, Nathalie, additional, Mozziconacci, Marie-Joelle, additional, Dastugue, Nicole, additional, Bilhou-Nabera, Chrystele, additional, Struski, Stephanie, additional, Cabrol, Christine, additional, Radford-Weiss, Isabelle, additional, Lesty, Claude, additional, and Bernard, Olivier A, additional

Published
2009
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27. 14q deletions are associated with trisomy 12, NOTCH1 mutations and unmutated IGHV genes in chronic lymphocytic leukemia and small lymphocytic lymphoma.

Author

Cosson, Adrien, Chapiro, Elise, Belhouachi, Nabila, Cung, Hong‐Anh, Keren, Boris, Damm, Frederik, Algrin, Caroline, Lefebvre, Christine, Fert‐Ferrer, Sandra, Luquet, Isabelle, Gachard, Nathalie, Mugneret, Francine, Terre, Christine, Collonge‐Rame, Marie‐Agnes, Michaux, Lucienne, Rafdord‐Weiss, Isabelle, Talmant, Pascaline, Veronese, Lauren, Nadal, Nathalie, and Struski, Stephanie

Published
2014
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28. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus

Author

Lawrenson, Kate, Kar, Siddhartha, McCue, Karen, Kuchenbaeker, Karoline, Michailidou, Kyriaki, Tyrer, Jonathan, Beesley, Jonathan, Ramus, Susan J., Li, Qiyuan, Delgado, Melissa K., Lee, Janet M., Aittomäki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Bandera, Elisa V., Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Matthias W., Benitez, Javier, Berchuck, Andrew, Bisogna, Maria, Bjorge, Line, Blomqvist, Carl, Blot, William, Bogdanova, Natalia, Bojesen, Anders, Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Bruinsma, Fiona, Brunet, Joan, Buhari, Shaik Ahmad, Burwinkel, Barbara, Butzow, Ralf, Buys, Saundra S., Cai, Qiuyin, Caldes, Trinidad, Campbell, Ian, Canniotto, Rikki, Chang-Claude, Jenny, Chiquette, Jocelyne, Choi, Ji-Yeob, Claes, Kathleen B. M., Collonge-Rame, Marie- Agnès, Damette, Alexandre, Barouk-Simonet, Emmanuelle, Bonnet, Françoise, Bubien, Virginie, Sevenet, Nicolas, Longy, Michel, Berthet, Pascaline, Vaur, Dominique, Castera, Laurent, Ferrer, Sandra Fert, Bignon, Yves-Jean, Uhrhammer, Nancy, Coron, Fanny, Faivre, Laurence, Baurand, Amandine, Jacquot, Caroline, Bertolone, Geoffrey, Lizard, Sarab, Leroux, Dominique, Dreyfus, Hélène, Rebischung, Christine, Peysselon, Magalie, Peyrat, Jean-Philippe, Fournier, Joëlle, Révillion, Françoise, Adenis, Claude, Vénat-Bouvet, Laurence, Léone, Mélanie, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Verny-Pierre, Carole, Lasset, Christine, Bonadona, Valérie, Barjhoux, Laure, Sobol, Hagay, Bourdon, Violaine, Noguchi, Tetsuro, Remenieras, Audrey, Coupier, Isabelle, Pujol, Pascal, Sokolowska, Johanna, Bronner, Myriam, Delnatte, Capucine, Bézieau, Stéphane, Mari, Véronique, Gauthier-Villars, Marion, Buecher, Bruno, Rouleau, Etienne, Golmard, Lisa, Moncoutier, Virginie, Belotti, Muriel, de Pauw, Antoine, Elan, Camille, Fourme, Emmanuelle, Birot, Anne-Marie, Saule, Claire, Laurent, Maïté, Houdayer, Claude, Lesueur, Fabienne, Mebirouk, Noura, Coulet, Florence, Colas, Chrystelle, Soubrier, Florent, Warcoin, Mathilde, Prieur, Fabienne, Lebrun, Marine, Kientz, Caroline, Muller, Danièle, Fricker, Jean-Pierre, Toulas, Christine, Guimbaud, Rosine, Gladieff, Laurence, Feillel, Viviane, Mortemousque, Isabelle, Bressac-de-Paillerets, Brigitte, Caron, Olivier, Guillaud-Bataille, Marine, Cook, Linda S., Cox, Angela, Cramer, Daniel W., Cross, Simon S., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., Damiola, Francesca, Dansonka-Mieszkowska, Agnieszka, Darabi, Hatef, Dennis, Joe, Devilee, Peter, Diez, Orland, Doherty, Jennifer A., Domchek, Susan M., Dorfling, Cecilia M., Dörk, Thilo, Dumont, Martine, Ehrencrona, Hans, Ejlertsen, Bent, Ellis, Steve, Gregory, Helen, Miedzybrodzka, Zosia, Morrison, Patrick J., Donaldson, Alan, Rogers, Mark T., Kennedy, M. John, Porteous, Mary E., Brady, Angela, Barwell, Julian, Foo, Claire, Lalloo, Fiona, Side, Lucy E., Eason, Jacqueline, Henderson, Alex, Walker, Lisa, Cook, Jackie, Snape, Katie, Murray, Alex, McCann, Emma, Engel, Christoph, Lee, Eunjung, Evans, D. Gareth, Fasching, Peter A., Feliubadalo, Lidia, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foretova, Lenka, Fostira, Florentia, Foulkes, William D., Fridley, Brooke L., Friedman, Eitan, Frost, Debra, Gambino, Gaetana, Ganz, Patricia A., Garber, Judy, García-Closas, Montserrat, Gentry-Maharaj, Aleksandra, Ghoussaini, Maya, Giles, Graham G., Glasspool, Rosalind, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Goode, Ellen L., Goodman, Marc T., Greene, Mark H., Gronwald, Jacek, Guénel, Pascal, Haiman, Christopher A., Hall, Per, Hallberg, Emily, Hamann, Ute, Hansen, Thomas V. O., Harrington, Patricia A., Hartman, Mikael, Hassan, Norhashimah, Healey, Sue, Rookus, M. A., van Leeuwen, F. E., van der Kolk, L. E., Schmidt, M. K., Russell, N. S., de Lange, J. L., Wijnands, R., Collée, J. M., Hooning, M. J., Seynaeve, C., van Deurzen, C. H. M., Obdeijn, I. M., van Asperen, C. J., Tollenaar, R. A. E. M., van Cronenburg, T. C. T. E. F., Kets, C. M., Ausems, M. G. E. M., van der Pol, C. C., van Os, T. A. M., Waisfisz, Q., Meijers-Heijboer, H. E. J., Gómez-Garcia, E. B., Oosterwijk, J. C., Mourits, M. J., de Bock, G. H., Vasen, H. F., Siesling, S., Verloop, J., Overbeek, L. I. H., Heitz, Florian, Herzog, Josef, Høgdall, Estrid, Høgdall, Claus K., Hogervorst, Frans B. L., Hollestelle, Antoinette, Hopper, John L., Hulick, Peter J., Huzarski, Tomasz, Imyanitov, Evgeny N., Fox, Stephen, Kirk, Judy, Lindeman, Geoff, Price, Melanie, Bowtell, David, deFazio, Anna, Webb, Penny, Isaacs, Claudine, Ito, Hidemi, Jakubowska, Anna, Janavicius, Ramunas, Jensen, Allan, John, Esther M., Johnson, Nichola, Kabisch, Maria, Kang, Daehee, Kapuscinski, Miroslav, Karlan, Beth Y., Khan, Sofia, Kiemeney, Lambertus A., Kjaer, Susanne Kruger, Knight, Julia A., Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kupryjanczyk, Jolanta, Kwong, Ava, de la Hoya, Miguel, Laitman, Yael, Lambrechts, Diether, Le, Nhu, De Leeneer, Kim, Lester, Jenny, Levine, Douglas A., Li, Jingmei, Lindblom, Annika, Long, Jirong, Lophatananon, Artitaya, Loud, Jennifer T., Lu, Karen, Lubinski, Jan, Mannermaa, Arto, Manoukian, Siranoush, Le Marchand, Loic, Margolin, Sara, Marme, Frederik, Massuger, Leon F. A. G., Matsuo, Keitaro, Mazoyer, Sylvie, McGuffog, Lesley, McLean, Catriona, McNeish, Iain, Meindl, Alfons, Menon, Usha, Mensenkamp, Arjen R., Milne, Roger L., Montagna, Marco, Moysich, Kirsten B., Muir, Kenneth, Mulligan, Anna Marie, Nathanson, Katherine L., Ness, Roberta B., Neuhausen, Susan L., Nevanlinna, Heli, Nord, Silje, Nussbaum, Robert L., Odunsi, Kunle, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Olswold, Curtis, O'Malley, David, Orlow, Irene, Orr, Nick, Osorio, Ana, Park, Sue Kyung, Pearce, Celeste L., Pejovic, Tanja, Peterlongo, Paolo, Pfeiler, Georg, Phelan, Catherine M., Poole, Elizabeth M., Pylkäs, Katri, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad Usman, Rennert, Gad, Rhenius, Valerie, Rhiem, Kerstin, Risch, Harvey A., Rodriguez, Gus, Rossing, Mary Anne, Rudolph, Anja, Salvesen, Helga B., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schildkraut, Joellen M., Schmidt, Marjanka K., Schmutzler, Rita K., Sellers, Thomas A., Seynaeve, Caroline, Shah, Mitul, Shen, Chen-Yang, Shu, Xiao-Ou, Sieh, Weiva, Singer, Christian F., Sinilnikova, Olga M., Slager, Susan, Song, Honglin, Soucy, Penny, Southey, Melissa C., Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Sutter, Christian, Swerdlow, Anthony, Tchatchou, Sandrine, Teixeira, Manuel R., Teo, Soo H., Terry, Kathryn L., Terry, Mary Beth, Thomassen, Mads, Tibiletti, Maria Grazia, Tihomirova, Laima, Tognazzo, Silvia, Toland, Amanda Ewart, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Tseng, Chiu-chen, Tung, Nadine, Tworoger, Shelley S., Vachon, Celine, van den Ouweland, Ans M. W., van Doorn, Helena C., van Rensburg, Elizabeth J., Van't Veer, Laura J., Vanderstichele, Adriaan, Vergote, Ignace, Vijai, Joseph, Wang, Qin, Wang-Gohrke, Shan, Weitzel, Jeffrey N., Wentzensen, Nicolas, Whittemore, Alice S., Wildiers, Hans, Winqvist, Robert, Wu, Anna H., Yannoukakos, Drakoulis, Yoon, Sook-Yee, Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Khanna, Kum Kum, Simard, Jacques, Monteiro, Alvaro N., French, Juliet D., Couch, Fergus J., Freedman, Matthew L., Easton, Douglas F., Dunning, Alison M., Pharoah, Paul D., Edwards, Stacey L., Chenevix-Trench, Georgia, Antoniou, Antonis C., and Gayther, Simon A.

Abstract

A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10−20), ER-negative BC (P=1.1 × 10−13), BRCA1-associated BC (P=7.7 × 10−16) and triple negative BC (P-diff=2 × 10−5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10−3) and ABHD8 (P<2 × 10−3). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3′-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.

Published
2016
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29. G-CSF–induced aneuploidy does not affect CD34+ cells and does not require cell division

Author

Marmier-Savet, Caroline, Larosa, Fabrice, Legrand, Faezeh, Witz, Brigitte, Michallet, Mauricette, Ranta, Dana, Louvat, Pascale, Puyraveau, Marc, Raus, Nicole, Tavernier, Maribel, Mathieu-Nafissi, Suzanne, Hequet, Olivier, Pallandre, Jean-René, Vitte, Franck, Collonge-Rame, Marie-Agnès, Pouthier, Fabienne, Bresson, Jean-Luc, Deconinck, Eric, Tiberghien, Pierre, and Robinet, Eric

Published
2010
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30. Genetic Characterization of B-Cell Prolymphocytic Leukemia (B-PLL): A Hierarchical Prognostic Model Involving MYCand TP53Abnormalities. on Behalf of the Groupe Francophone De Cytogenetique Hematologique(GFCH) and the French Innovative Leukemia Organization(FILO) Group

Author

Chapiro, Elise, Roos-Weil, Damien, Bougacha, Nadia, Gabillaud, Clementine, Dillard, Clémentine, Pramil, Elodie, Yon, Melanie, Maloum, Karim, Settegrana, Catherine, Baseggio, Lucile, Lesty, Claude, Davi, Frederic, Le Garff-Tavernier, Magali, Diop, M'boyba Khadija, Droin, Nathalie M, Dessen, Philippe, Leblond, Veronique, Algrin, Caroline, Bouzy, Simon, Eclache, Virginie, Gaillard, Baptiste, Callet-Bauchu, Evelyne, Muller, Marc, Lefebvre, Christine, Nadal, Nathalie, Ittel, Antoine, Struski, Stéphanie, Collonge-Rame, Marie-Agnes, Quilichini, Benoit, Fert-Ferrer, Sandra, Auger, Nathalie, Radford-Weiss, Isabelle, Wagner, Lena, Scheinost, Sebastian, Zenz, Thorsten, Susin, Santos, Bernard, Olivier, and Nguyen-Khac, Florence

Abstract

B-PLL is defined by the presence of prolymphocytes in peripheral blood exceeding 55% of lymphoid cells. The diagnosis, mainly based on clinical and morphological data, can be difficult because of overlap with other B-cell malignancies. Because of the rarity of the disease, only case reports and small series describe its cytogenetic features. Few prognostic markers have been identified in this aggressive leukemia usually resistant to standard chemo-immuno therapy. We report here the cytogenetic and molecular findings in a large series of B-PLL. We also studied the in vitroresponse to novel targeted drugs on primary B-PLL cells.

Published
2018
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31. Specific Chromosomal IGTranslocations Have Different Prognosis In Chronic Lymphocytic Leukemia

Author

Nguyen-Khac, Florence, Lesty, CLaude, Chapiro, Elise, Grelier, Aurore, Luquet, Isabelle, Radford-Weiss, Isabelle, Fertferrer, Sandra, Callet-Bauchu, Evelyne, Lefebvre, Christine, Lippert, Eric, Terré, Christine, Michaux, Lucienne, Collonge-Rame, Marie-Agnes, Barin, Carole, Mugneret, Francine, Talmant, Pascaline, Taviaux, Sylvie, Struski, Stephanie, Eclache, Virginie, Gervais, Carine, Quilichini, Benoit, Gachard, Nathalie, Richebourg, Steven, Dastugue, Nicole, Settegrana, Catherine, Davi, Frederic, Maloum, Karim, and Merle-Beral, Helene

Abstract

Abstract 582

Published
2010
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32. Chromosomal Abnormalities in Transformed Ph-Negative Myeloproliferative Neoplasm Are Independent of the JAK2and the TET2Statuses.

Author

Nguyen-Khac, Florence, Couronne, Lucile, Eclache, Virginie, Andrieux, Joris, Lippert, Eric, Kosmider, Olivier, Mugneret, Francine, Collonge-Rame, Marie-Agnes, Penther, Dominique, Lafage, Marina, Gachard, Nathalie, Nadal, Nathalie, Mozziconacci, Marie-Joelle, Dastugue, Nicole, Bilhou-Nabera, Chrystele, Struski, Stephanie, Cabrol, Christine, Radford-Weiss, Isabelle, Lesty, Claude, and Bernard, Olivier A

Abstract

Abstract 2900

Published
2009
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33. Specific chromosomal IG translocations have different prognoses in chronic lymphocytic leukemia.

Author

Nguyen-Khac F, Chapiro E, Lesty C, Grelier A, Luquet I, Radford-Weiss I, Lefebvre C, Fert-Ferrer S, Callet-Bauchu E, Lippert E, Raggueneau V, Michaux L, Barin C, Collonge-Rame MA, Mugneret F, Eclache V, Taviaux S, Dastugue N, Richebourg S, Struski S, Talmant P, Baranger L, Gachard N, Gervais C, Quilichini B, Settegrana C, Maloum K, Davi F, and Merle-Béral H

Abstract

Background: Chromosomal translocations are usually analyzed as a single entity, and are associated with a poor outcome in chronic lymphocytic leukemia. Translocations involving immunoglobulin genes are recurrent, but uncommon (<5%), and their individual prognosis is not clear. The two most frequent partners are BCL2 (18q21) and BCL3 (19q13)., Designs and Methods: Herein, 75 cases are reported of chronic lymphocytic leukemia and t(14;18) (BCL2-CLLs). Our series benefits from morphological, immunological and cytogenetical reviews. The IGHV status analyses were performed by referring laboratories. Comparison was made with our previously published series of chronic lymphocytic leukemia patients with t(14;19) (BCL3-CLLs, n=29)., Results: Compared with BCL3-CLLs, lymphocytosis was lower in BCL2-CLLs (p<0.008), and splenomegaly was less frequent (p<0.0001). There were more "typical" morphologies (p<0.005) and Matutes scores >4 (p<0.001) in the BCL2-CLLs group, and less CD38 expression (p<0.04). More variant BCL2-translocations were observed (t(18;22), n=11; 2t(2;18), n=2; p<0.02), and BCL2-translocation was frequently single (p<0.002). Complex karyotypes (p<0.02), trisomy 12 (p<0.03), 6q deletion (p<0.002) and TP53 deletion (p<0.02) were less frequent in BCL2-CLLs, whereas 13q deletion was more frequent (p<0.005). The IGHV gene was frequently mutated in BCL2-CLLs (p<0.0001). Treatment-free survival was longer in BCL2-CLLs (p<0.0001)., Conclusions: BCL2-CLL.S express CD5 and lack expression of CD38, and have a Matutes score ≥4, frequent trisomy 12, no ATM and 6q deletions, and a mutated IGHV status. Compared to BCL3-CLLs, BCL2-CLLs are much less aggressive; indicating that identifying individual translocations and cytogenetic partners would allow improved patient stratification.

Published
2011

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