Author: "Menendez, Primitiva" - Searchworks@Jio Institute Digital Library Search Results

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22 results on '"Menendez, Primitiva"'

1. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

Author: Hollestelle, Antoinette, van der Baan, Frederieke H., Berchuck, Andrew, Johnatty, Sharon E., Aben, Katja K., Agnarsson, Bjarni A., Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Antoniou, Antonis C., Apicella, Carmel, Arndt, Volker, Arnold, Norbert, Arun, Banu K., Arver, Brita, Ashworth, Alan, Baglietto, Laura, Balleine, Rosemary, Bandera, Elisa V., Barrowdale, Daniel, Bean, Yukie T., Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Berger, Andreas, Berger, Raanan, Beuselinck, Benoit, Bisogna, Maria, Bjorge, Line, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Anders, Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brand, Judith S., Brauch, Hiltrud, Brenner, Hermann, Brinton, Louise, Brooks-Wilson, Angela, Bruinsma, Fiona, Brunet, Joan, Brüning, Thomas, Budzilowska, Agnieszka, Bunker, Clareann H., Burwinkel, Barbara, Butzow, Ralf, Buys, Saundra S., Caligo, Maria A., Campbell, Ian, Carter, Jonathan, Chang-Claude, Jenny, Chanock, Stephen J., Claes, Kathleen B.M., Collée, J. Margriet, Cook, Linda S., Couch, Fergus J., Cox, Angela, Cramer, Daniel, Cross, Simon S., Cunningham, Julie M., Cybulski, Cezary, Czene, Kamila, Damiola, Francesca, Dansonka-Mieszkowska, Agnieszka, Darabi, Hatef, de la Hoya, Miguel, deFazio, Anna, Dennis, Joseph, Devilee, Peter, Dicks, Ed M., Diez, Orland, Doherty, Jennifer A., Domchek, Susan M., Dorfling, Cecilia M., Dörk, Thilo, Silva, Isabel Dos Santos, du Bois, Andreas, Dumont, Martine, Dunning, Alison M., Duran, Mercedes, Easton, Douglas F., Eccles, Diana, Edwards, Robert P., Ehrencrona, Hans, Ejlertsen, Bent, Ekici, Arif B., Ellis, Steve D., Engel, Christoph, Eriksson, Mikael, Fasching, Peter A., Feliubadalo, Lidia, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Fontaine, Annette, Fortuzzi, Stefano, Fostira, Florentia, Fridley, Brooke L., Friebel, Tara, Friedman, Eitan, Friel, Grace, Frost, Debra, Garber, Judy, García-Closas, Montserrat, Gayther, Simon A., Gentry-Maharaj, Aleksandra, Gerdes, Anne-Marie, Giles, Graham G., Glasspool, Rosalind, Glendon, Gord, Godwin, Andrew K., Goodman, Marc T., Gore, Martin, Greene, Mark H., Grip, Mervi, Gronwald, Jacek, Gschwantler Kaulich, Daphne, Guénel, Pascal, Guzman, Starr R., Haeberle, Lothar, Haiman, Christopher A., Hall, Per, Halverson, Sandra L., Hamann, Ute, Hansen, Thomas V.O., Harter, Philipp, Hartikainen, Jaana M., Healey, Sue, Hein, Alexander, Heitz, Florian, Henderson, Brian E., Herzog, Josef, T Hildebrandt, Michelle A., Høgdall, Claus K., Høgdall, Estrid, Hogervorst, Frans B.L., Hopper, John L., Humphreys, Keith, Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, Janavicius, Ramunas, Jaworska, Katarzyna, Jensen, Allan, Jensen, Uffe Birk, Johnson, Nichola, Jukkola-Vuorinen, Arja, Kabisch, Maria, Karlan, Beth Y., Kataja, Vesa, Kauff, Noah, Kelemen, Linda E., Kerin, Michael J., Kiemeney, Lambertus A., Kjaer, Susanne K., Knight, Julia A., Knol-Bout, Jacoba P., Konstantopoulou, Irene, Kosma, Veli-Matti, Krakstad, Camilla, Kristensen, Vessela, Kuchenbaecker, Karoline B., Kupryjanczyk, Jolanta, Laitman, Yael, Lambrechts, Diether, Lambrechts, Sandrina, Larson, Melissa C., Lasa, Adriana, Laurent-Puig, Pierre, Lazaro, Conxi, Le, Nhu D., Le Marchand, Loic, Leminen, Arto, Lester, Jenny, Levine, Douglas A., Li, Jingmei, Liang, Dong, Lindblom, Annika, Lindor, Noralane, Lissowska, Jolanta, Long, Jirong, Lu, Karen H., Lubinski, Jan, Lundvall, Lene, Lurie, Galina, Mai, Phuong L., Mannermaa, Arto, Margolin, Sara, Mariette, Frederique, Marme, Frederik, Martens, John W.M., Massuger, Leon F.A.G., Maugard, Christine, Mazoyer, Sylvie, McGuffog, Lesley, McGuire, Valerie, McLean, Catriona, McNeish, Iain, Meindl, Alfons, Menegaux, Florence, Menéndez, Primitiva, Menkiszak, Janusz, Menon, Usha, Mensenkamp, Arjen R., Miller, Nicola, Milne, Roger L., Modugno, Francesmary, Montagna, Marco, Moysich, Kirsten B., Müller, Heiko, Mulligan, Anna Marie, Muranen, Taru A., Narod, Steven A., Nathanson, Katherine L., Ness, Roberta B., Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nielsen, Finn C., Nielsen, Sune F., Nordestgaard, Børge G., Nussbaum, Robert L., Odunsi, Kunle, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Olson, Sara H., Oosterwijk, Jan C., Orlow, Irene, Orr, Nick, Orsulic, Sandra, Osorio, Ana, Ottini, Laura, Paul, James, Pearce, Celeste L., Pedersen, Inge Sokilde, Peissel, Bernard, Pejovic, Tanja, Pelttari, Liisa M., Perkins, Jo, Permuth-Wey, Jenny, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Phillips, Kelly-Anne, Piedmonte, Marion, Pike, Malcolm C., Platte, Radka, Plisiecka-Halasa, Joanna, Poole, Elizabeth M., Poppe, Bruce, Pylkäs, Katri, Radice, Paolo, Ramus, Susan J., Rebbeck, Timothy R., Reed, Malcolm W.R., Rennert, Gad, Risch, Harvey A., Robson, Mark, Rodriguez, Gustavo C., Romero, Atocha, Rossing, Mary Anne, Rothstein, Joseph H., Rudolph, Anja, Runnebaum, Ingo, Salani, Ritu, Salvesen, Helga B., Sawyer, Elinor J., Schildkraut, Joellen M., Schmidt, Marjanka K., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schrauder, Michael G., Schumacher, Fredrick, Schwaab, Ira, Scuvera, Giulietta, Sellers, Thomas A., Severi, Gianluca, Seynaeve, Caroline M., Shah, Mitul, Shrubsole, Martha, Siddiqui, Nadeem, Sieh, Weiva, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Smeets, Dominiek, Sohn, Christof, Soller, Maria, Song, Honglin, Soucy, Penny, Southey, Melissa C., Stegmaier, Christa, Stoppa-Lyonnet, Dominique, Sucheston, Lara, Swerdlow, Anthony, Tangen, Ingvild L., Tea, Muy-Kheng, Teixeira, Manuel R., Terry, Kathryn L., Terry, Mary Beth, Thomassen, Mads, Thompson, Pamela J., Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda Ewart, Tollenaar, Rob A.E.M., Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Tsimiklis, Helen, Tung, Nadine, Tworoger, Shelley S., Tyrer, Jonathan P., Vachon, Celine M., Van 't Veer, Laura J., van Altena, Anne M., Van Asperen, C.J., van den Berg, David, van den Ouweland, Ans M.W., van Doorn, Helena C., Van Nieuwenhuysen, Els, van Rensburg, Elizabeth J., Vergote, Ignace, Verhoef, Senno, Vierkant, Robert A., Vijai, Joseph, Vitonis, Allison F., von Wachenfeldt, Anna, Walsh, Christine, Wang, Qin, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weischer, Maren, Weitzel, Jeffrey N., Weltens, Caroline, Wentzensen, Nicolas, Whittemore, Alice S., Wilkens, Lynne R., Winqvist, Robert, Wu, Anna H., Wu, Xifeng, Yang, Hannah P., Zaffaroni, Daniela, Pilar Zamora, M., Zheng, Wei, Ziogas, Argyrios, Chenevix-Trench, Georgia, Pharoah, Paul D.P., Rookus, Matti A., Hooning, Maartje J., and Goode, Ellen L.
Published: 2016
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2. Evaluación de resultados en el programa de detección precoz del cáncer de mama del Principado de Asturias

Author: Natal, Carmen, Suárez, María Teresa, Serrano, Susana, Díaz, Concepción, González, Cristina, Menéndez, Primitiva, Castañón, Rubén, García, María Luisa, and Blázquez, Elena
Published: 2012
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3. Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival

Author: Azzato, Elizabeth M., Tyrer, Jonathan, Fasching, Peter A., Beckmann, Matthias W., Ekici, Arif B., Schulz-Wendtland, Rudiger, Bojesen, Stig E., Nordestgaard, Berge G., Flyger, Henrik, Milne, Roger L., Arias, Jose Ignacio, Menendez, Primitiva, Benitez, Javier, Chang-Claude, Jenny, Hein, Rebecca, Wang-Gohrke, Shah, Nevanlinna, Heli, Heikkinen, Tuomas, Aittomaki, Kristiina, Blomqvist, Carl, Margolin, Sara, Mannermaa, Arto, Kosma, Veli-Matti, Kataja, Vesa, Beesley, Jonathan, Chen, Xiaoqing, Chenevix-Trench, Georgia, Couch, Fergus J., Olson, Janet E., Fredericksen, Zachary S., Wang, Xianshu, Giles, Graham G., Severi, Gianluca, Baglietto, Laura, Southey, Melissa C., Devilee, Peter, Tollenaar, Rob A.E.M., Seynaeve, Caroline, Garcia-Closas, Montserrat, Lissowska, Jolanta, Sherman, Mark E., Bolton, Kelly L., Hall, Per, Czene, Kamila, Cox, Angela, Brock, Ian W., Elliott, Graeme C., Reed, Malcolm W.R., Greenberg, David, Anton-Culver, Hoda, Ziogas, Argyrios, Humphreys, Manjeet, Easton, Douglas F., Caporaso, Neil E., and Pharoah, Paul D.P.
Subjects: Breast cancer -- Genetic aspects, Breast cancer -- Care and treatment, Breast cancer -- Patient outcomes, Cancer survivors -- Genetic aspects, Cancer survivors -- Research, Genetic polymorphisms -- Health aspects, Genetic polymorphisms -- Research, Estrogen -- Receptors, Estrogen -- Physiological aspects, Estrogen -- Genetic aspects, Health
Abstract: BackgroundTraditional prognostic factors for survival and treatment response of patients with breast cancer do not fully account for observed survival variation. We used available genotype data from a previously conducted twostage, breast cancer susceptibility genome-wide association study (ie, Studies of Epidemiology and Risk factors in Cancer Heredity [SEARCH]) to investigate associations between variation in germline DNA and overall survival. Methods We evaluated possible associations between overall survival after a breast cancer diagnosis and 10621 gerreline single-nucleotide polymorphisms (SNPs) from up to 3761 patients with invasive breast cancer (including 647 deaths and 26978 person-years at risk) that were genotyped previously in the SEARCH study with highdensity oligonucleotide microarrays (ie, hypothesis-generating set). Associations with all-cause mortality were assessed for each SNP by use of Cox regression analysis, generating a per rare allele hazard ratio (HR). To validate putative associations, we used patient genotype information that had been obtained with 5' nuclease assay or mass spectrometry and overall survival information for up to 14096 patients with invasive breast cancer (including 2303 deaths and 70019 person-years at risk) from 15 international case-control studies (ie, validation set). Fixed-effects meta-analysis was used to generate an overall effect estimate in the validation dataset and in combined SEARCH and validation datasets. All statistical tests were two-sided. Results In the hypothesis-generating dataset, SNP rs4778137 (C>G) of the OCA2 gone at 15q13.1 was statistically significantly associated with overall survival among patients with estrogen receptor-negative tumors, with the rare G allele being associated with increased overall survival (HR of death per rare allele carried = 0.56, 95% confidence interval [CI] = 0.41 to 0.75, P = 9.2 x [10.sup.-5]). This association was also observed in the validation dataset (HR of death per rare allele carried = 0.88, 95% CI = 0.78 to 0.99, P = .03) and in the combined dataset (HR of death per rare allele carried = 0.82, 95% CI = 0.73 to 0.92, P= 5 x [10.sup.4]). Conclusion The rare G allele of the OCA2 polymorphism, rs4778137, may be associated with improved overall survival among patients with estrogen receptor-negative breast cancer. DOI: 10.1093/jnci/djq057
Published: 2010

4. Different Patterns of Renal Osteodystrophy in Iberoamerica

Author: Jorgetti, Vanda, Díaz López, Bernardino, Caorsi, Hena, Ferreira, Anibal, Palma, Alfonso, Menendez, Primitiva, Douthat, Walter, Olaizola, InÉs, Ribeiro, Silvia, Jarava, Carlos, Moreira, Eleonora, and Cannata, Jorge
Published: 2000

5. Association analysis identifies 65 new breast cancer risk loci

Author: Michailidou, Kyriaki, Lindstrom, Sara, Dennis, Joe, Beesley, Jonathan, Hui, Shirley, Kar, Siddhartha, Lemacon, Audrey, Soucy, Penny, Glubb, Dylan, Rostamianfar, Asha, Bolla, Manjeet K., Wang, Qin, Tyrer, Jonathan, Dicks, Ed, Lee, Andrew, Wang, Zhaoming, Allen, Jamie, Keeman, Renske, Eilber, Ursula, French, Juliet D., Chen, Xiao Qing, Fachal, Laura, McCue, Karen, McCart, Amy E., Reed, Amy E. McCart, Ghoussaini, Maya, Carroll, Jason S., Jiang, Xia, Finucane, Hilary, Adams, Marcia, Adank, Muriel A., Ahsan, Habibul, Aittomaki, Kristiina, Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Arun, Banu, Auer, Paul L., Bacot, Francois, Barrdahl, Myrto, Baynes, Caroline, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bonanni, Bernardo, Borresen-Dale, Anne-Lise, Brand, Judith S., Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Brinton, Louise, Broberg, Per, Brock, Ian W., Broeks, Annegien, Brooks-Wilson, Angela, Brucker, Sara Y., Bruening, Thomas, Burwinkel, Barbara, Butterbach, Katja, Cai, Qiuyin, Cai, Hui, Caldes, Trinidad, Canzian, Federico, Carracedo, Angel, Carter, Brian D., Castelao, Jose E., Chan, Tsun L., Cheng, Ting-Yuan David, Chia, Kee Seng, Choi, Ji-Yeob, Christiansen, Hans, Clarke, Christine L., Collee, Margriet, Conroy, Don M., Cordina-Duverger, Emilie, Cornelissen, Sten, Cox, David G., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Devilee, Peter, Doheny, Kimberly F., Doerk, Thilo, dos-Santos-Silva, Isabel, Dumont, Martine, Durcan, Lorraine, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Elvira, Mingajeva, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gaborieau, Valerie, Gabrielson, Marike, Gago-Dominguez, Manuela, Gao, Yu-Tang, Gapstur, Susan M., Garcia-Saenz, Jose A., Gaudet, Mia M., Georgoulias, Vassilios, Giles, Graham G., Glendon, Gord, Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Alnaes, Grethe I. Grenaker, Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Guenel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Harrington, Patricia, Hart, Steven N., Hartikainen, Jaana M., Hartman, Mikael, Hein, Alexander, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Ho, Dona N., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Hou, Ming-Feng, Hsiung, Chia-Ni, Huang, Guanmengqian, Humphreys, Keith, Ishiguro, Junko, Ito, Hidemi, Iwasaki, Motoki, Iwata, Hiroji, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kasuga, Yoshio, Kerin, Michael J., Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I., Kim, Sung-Won, Knight, Julia A., Kosma, Veli-Matti, Kristensen, Vessela N., Kruger, Ute, Kwong, Ava, Lambrechts, Diether, Le Marchand, Loic, Lee, Eunjung, Lee, Min Hyuk, Lee, Jong Won, Lee, Chuen Neng, Lejbkowicz, Flavio, Li, Jingmei, Lilyquist, Jenna, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Long, Jirong, Lophatananon, Artitaya, Lubinski, Jan, Luccarini, Craig, Lux, Michael P., Ma, Edmond S. K., MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Malone, Kathleen E., Kostovska, Ivana Maleva, Mannermaa, Arto, Manoukian, Siranoush, Manson, Joann E., Margolin, Sara, Mariapun, Shivaani, Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, McKay, James, McLean, Catriona, Meijers-Heijboer, Hanne, Meindl, Alfons, Menendez, Primitiva, Menon, Usha, Meyer, Jeffery, Miao, Hui, Miller, Nicola, Taib, Nur Aishah Mohd, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nielsen, Sune F., Noh, Dong-Young, Nordestgaard, Borge G., Norman, Aaron, Olopade, Olufunmilayo I., Olson, Janet E., Olsson, Hakan, Olswold, Curtis, Orr, Nick, Pankratz, V. Shane, Park, Sue K., Park-Simon, Tjoung-Won, Lloyd, Rachel, Perez, Jose I. A., Peterlongo, Paolo, Peto, Julian, Phillips, Kelly-Anne, Pinchev, Mila, Plaseska-Karanfilska, Dijana, Prentice, Ross, Presneau, Nadege, Prokofyeva, Darya, Pugh, Elizabeth, Pylkas, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rennert, Gadi, Rennert, Hedy S., Rhenius, Valerie, Romero, Atocha, Romm, Jane, Ruddy, Kathryn J., Ruediger, Thomas, Rudolph, Anja, Ruebner, Matthias, Rutgers, Emiel J. T., Saloustros, Emmanouil, Sandler, Dale P., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Daniel F., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schumacher, Fredrick, Schuermann, Peter, Scott, Rodney J., Scott, Christopher, Seal, Sheila, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Sheng, Grace, Sherman, Mark E., Shrubsole, Martha J., Shu, Xiao-Ou, Smeets, Ann, Sohn, Christof, Southey, Melissa C., Spinelli, John J., Stegmaier, Christa, Stewart-Brown, Sarah, Stone, Jennifer, Stram, Daniel O., Surowy, Harald, Swerdlow, Anthony, Tamimi, Rulla, Taylor, Jack A., Tengstrom, Maria, Teo, Soo H., Terry, Mary Beth, Tessier, Daniel C., Thanasitthichai, Somchai, Thoene, Kathrin, Tollenaar, Rob A. E. M., Tomlinson, Ian, Tong, Ling, Torres, Diana, Truong, Therese, Tseng, Chiu-Chen, Tsugane, Shoichiro, Ulmer, Hans-Ulrich, Ursin, Giske, Untch, Michael, Vachon, Celine, van Asperen, Christi J., Van Den Berg, David, van den Ouweland, Ans M. W., van der Kolk, Lizet, van der Luijt, Rob B., Vincent, Daniel, Vollenweider, Jason, Waisfisz, Quinten, Wang-Gohrke, Shan, Weinberg, Clarice R., Wendt, Camilla, Whittemore, Alice S., Wildiers, Hans, Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Xia, Lucy, Yamaji, Taiki, Yang, Xiaohong R., Yip, Cheng Har, Yoo, Keun-Young, Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, Lakhani, Sunil R., Antoniou, Antonis C., Droit, Arnaud, Andrulis, Irene L., Amos, Christopher I., Couch, Fergus J., Pharoah, Paul D. P., Chang-Claude, Jenny, Hall, Per, Hunter, David J., Milne, Roger L., Garcia-Closas, Montserrat, Schmidt, Marjanka K., Chanock, Stephen J., Dunning, Alison M., Edwards, Stacey L., Bader, Gary D., Chenevix-Trench, Georgia, Simard, Jacques, Kraft, Peter, Easton, Douglas F., Michailidou, Kyriaki, Lindstrom, Sara, Dennis, Joe, Beesley, Jonathan, Hui, Shirley, Kar, Siddhartha, Lemacon, Audrey, Soucy, Penny, Glubb, Dylan, Rostamianfar, Asha, Bolla, Manjeet K., Wang, Qin, Tyrer, Jonathan, Dicks, Ed, Lee, Andrew, Wang, Zhaoming, Allen, Jamie, Keeman, Renske, Eilber, Ursula, French, Juliet D., Chen, Xiao Qing, Fachal, Laura, McCue, Karen, McCart, Amy E., Reed, Amy E. McCart, Ghoussaini, Maya, Carroll, Jason S., Jiang, Xia, Finucane, Hilary, Adams, Marcia, Adank, Muriel A., Ahsan, Habibul, Aittomaki, Kristiina, Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Arun, Banu, Auer, Paul L., Bacot, Francois, Barrdahl, Myrto, Baynes, Caroline, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bonanni, Bernardo, Borresen-Dale, Anne-Lise, Brand, Judith S., Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Brinton, Louise, Broberg, Per, Brock, Ian W., Broeks, Annegien, Brooks-Wilson, Angela, Brucker, Sara Y., Bruening, Thomas, Burwinkel, Barbara, Butterbach, Katja, Cai, Qiuyin, Cai, Hui, Caldes, Trinidad, Canzian, Federico, Carracedo, Angel, Carter, Brian D., Castelao, Jose E., Chan, Tsun L., Cheng, Ting-Yuan David, Chia, Kee Seng, Choi, Ji-Yeob, Christiansen, Hans, Clarke, Christine L., Collee, Margriet, Conroy, Don M., Cordina-Duverger, Emilie, Cornelissen, Sten, Cox, David G., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Devilee, Peter, Doheny, Kimberly F., Doerk, Thilo, dos-Santos-Silva, Isabel, Dumont, Martine, Durcan, Lorraine, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Elvira, Mingajeva, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gaborieau, Valerie, Gabrielson, Marike, Gago-Dominguez, Manuela, Gao, Yu-Tang, Gapstur, Susan M., Garcia-Saenz, Jose A., Gaudet, Mia M., Georgoulias, Vassilios, Giles, Graham G., Glendon, Gord, Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Alnaes, Grethe I. Grenaker, Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Guenel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Harrington, Patricia, Hart, Steven N., Hartikainen, Jaana M., Hartman, Mikael, Hein, Alexander, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Ho, Dona N., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Hou, Ming-Feng, Hsiung, Chia-Ni, Huang, Guanmengqian, Humphreys, Keith, Ishiguro, Junko, Ito, Hidemi, Iwasaki, Motoki, Iwata, Hiroji, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kasuga, Yoshio, Kerin, Michael J., Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I., Kim, Sung-Won, Knight, Julia A., Kosma, Veli-Matti, Kristensen, Vessela N., Kruger, Ute, Kwong, Ava, Lambrechts, Diether, Le Marchand, Loic, Lee, Eunjung, Lee, Min Hyuk, Lee, Jong Won, Lee, Chuen Neng, Lejbkowicz, Flavio, Li, Jingmei, Lilyquist, Jenna, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Long, Jirong, Lophatananon, Artitaya, Lubinski, Jan, Luccarini, Craig, Lux, Michael P., Ma, Edmond S. K., MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Malone, Kathleen E., Kostovska, Ivana Maleva, Mannermaa, Arto, Manoukian, Siranoush, Manson, Joann E., Margolin, Sara, Mariapun, Shivaani, Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, McKay, James, McLean, Catriona, Meijers-Heijboer, Hanne, Meindl, Alfons, Menendez, Primitiva, Menon, Usha, Meyer, Jeffery, Miao, Hui, Miller, Nicola, Taib, Nur Aishah Mohd, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nielsen, Sune F., Noh, Dong-Young, Nordestgaard, Borge G., Norman, Aaron, Olopade, Olufunmilayo I., Olson, Janet E., Olsson, Hakan, Olswold, Curtis, Orr, Nick, Pankratz, V. Shane, Park, Sue K., Park-Simon, Tjoung-Won, Lloyd, Rachel, Perez, Jose I. A., Peterlongo, Paolo, Peto, Julian, Phillips, Kelly-Anne, Pinchev, Mila, Plaseska-Karanfilska, Dijana, Prentice, Ross, Presneau, Nadege, Prokofyeva, Darya, Pugh, Elizabeth, Pylkas, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rennert, Gadi, Rennert, Hedy S., Rhenius, Valerie, Romero, Atocha, Romm, Jane, Ruddy, Kathryn J., Ruediger, Thomas, Rudolph, Anja, Ruebner, Matthias, Rutgers, Emiel J. T., Saloustros, Emmanouil, Sandler, Dale P., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Daniel F., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schumacher, Fredrick, Schuermann, Peter, Scott, Rodney J., Scott, Christopher, Seal, Sheila, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Sheng, Grace, Sherman, Mark E., Shrubsole, Martha J., Shu, Xiao-Ou, Smeets, Ann, Sohn, Christof, Southey, Melissa C., Spinelli, John J., Stegmaier, Christa, Stewart-Brown, Sarah, Stone, Jennifer, Stram, Daniel O., Surowy, Harald, Swerdlow, Anthony, Tamimi, Rulla, Taylor, Jack A., Tengstrom, Maria, Teo, Soo H., Terry, Mary Beth, Tessier, Daniel C., Thanasitthichai, Somchai, Thoene, Kathrin, Tollenaar, Rob A. E. M., Tomlinson, Ian, Tong, Ling, Torres, Diana, Truong, Therese, Tseng, Chiu-Chen, Tsugane, Shoichiro, Ulmer, Hans-Ulrich, Ursin, Giske, Untch, Michael, Vachon, Celine, van Asperen, Christi J., Van Den Berg, David, van den Ouweland, Ans M. W., van der Kolk, Lizet, van der Luijt, Rob B., Vincent, Daniel, Vollenweider, Jason, Waisfisz, Quinten, Wang-Gohrke, Shan, Weinberg, Clarice R., Wendt, Camilla, Whittemore, Alice S., Wildiers, Hans, Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Xia, Lucy, Yamaji, Taiki, Yang, Xiaohong R., Yip, Cheng Har, Yoo, Keun-Young, Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, Lakhani, Sunil R., Antoniou, Antonis C., Droit, Arnaud, Andrulis, Irene L., Amos, Christopher I., Couch, Fergus J., Pharoah, Paul D. P., Chang-Claude, Jenny, Hall, Per, Hunter, David J., Milne, Roger L., Garcia-Closas, Montserrat, Schmidt, Marjanka K., Chanock, Stephen J., Dunning, Alison M., Edwards, Stacey L., Bader, Gary D., Chenevix-Trench, Georgia, Simard, Jacques, Kraft, Peter, and Easton, Douglas F.
Abstract: Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. Here we report the results of a genome-wide association study of breast cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry(1). We identified 65 new loci that are associated with overall breast cancer risk at P < 5 x 10(-8). The majority of credible risk single-nucleotide polymorphisms in these loci fall in distal regulatory elements, and by integrating in silico data to predict target genes in breast cells at each locus, we demonstrate a strong overlap between candidate target genes and somatic driver genes in breast tumours. We also find that heritability of breast cancer due to all single-nucleotide polymorphisms in regulatory features was 2-5-fold enriched relative to the genome-wide average, with strong enrichment for particular transcription factor binding sites. These results provide further insight into genetic susceptibility to breast cancer and will improve the use of genetic risk scores for individualized screening and prevention.
Published: 2017

6. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Author: Milne, Roger L., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Beesley, Jonathan, Kar, Siddhartha, Lindstrom, Sara, Hui, Shirley, Lemacon, Audrey, Soucy, Penny, Dennis, Joe, Jiang, Xia, Rostamianfar, Asha, Finucane, Hilary, Bolla, Manjeet K., McGuffog, Lesley, Wang, Qin, Aalfs, Cora M., Adams, Marcia, Adlard, Julian, Agata, Simona, Ahmed, Shahana, Ahsan, Habibul, Aittomaki, Kristiina, Al-Ejeh, Fares, Allen, Jamie, Ambrosone, Christine B., Amos, Christopher I., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Auber, Bernd, Auer, Paul L., Ausems, Margreet G. E. M., Azzollini, Jacopo, Bacot, Francois, Balmana, Judith, Barile, Monica, Barjhoux, Laure, Barkardottir, Rosa B., Barrdahl, Myrto, Barnes, Daniel, Barrowdale, Daniel, Baynes, Caroline, Beckmann, Matthias W., Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Bignon, Yves-Jean, Blazer, Kathleen R., Blok, Marinus J., Blomqvist, Carl, Blot, William, Bobolis, Kristie, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Anders, Bojesen, Stig E., Bonanni, Bernardo, Borresen-Dale, Anne-Lise, Bozsik, Aniko, Bradbury, Angela R., Brand, Judith S., Brauch, Hiltrud, Brenner, Hermann, Bressac-de Paillerets, Brigitte, Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Brunet, Joan, Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Byun, Jinyoung, Cai, Qiuyin, Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Canzian, Federico, Caron, Olivier, Carracedo, Angel, Carter, Brian D., Esteban Castelao, J., Castera, Laurent, Caux-Moncoutier, Virginie, Chan, Salina B., Chang-Claude, Jenny, Chanock, Stephen J., Chen, Xiaoqing, Cheng, Ting-Yuan David, Chiquette, Jocelyne, Christiansen, Hans, Claes, Kathleen B. M., Clarke, Christine L., Conner, Thomas, Conroy, Don M., Cook, Jackie, Cordina-Duverger, Emilie, Cornelissen, Sten, Coupier, Isabelle, Cox, Angela, Cox, David G., Cross, Simon S., Cuk, Katarina, Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, Davidson, Rosemarie, De Leeneer, Kim, Devilee, Peter, Dicks, Ed, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Doheny, Kimberly F., Domchek, Susan M., Dorfling, Cecilia M., Doerk, Thilo, dos-Santos-Silva, Isabel, Dubois, Stephane, Dugue, Pierre-Antoine, Dumont, Martine, Dunning, Alison M., Durcan, Lorraine, Dwek, Miriam, Dworniczak, Bernd, Eccles, Diana, Eeles, Ros, Ehrencrona, Hans, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B., Eliassen, A. Heather, Engel, Christoph, Eriksson, Mikael, Fachal, Laura, Faivre, Laurence, Fasching, Peter A., Faust, Ulrike, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foulkes, William D., Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Gaddam, Pragna, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Garcia-Barberan, Vanesa, Garcia-Saenz, Jose A., Gaudet, Mia M., Gauthier-Villars, Marion, Gehrig, Andrea, Georgoulias, Vassilios, Gerdes, Anne-Marie, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Goodfellow, Paul, Greene, Mark H., Alnaes, Grethe I. Grenaker, Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Gschwantler-Kaulich, Daphne, Guenel, Pascal, Guo, Qi, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hallberg, Emily, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Hansen, Thomas V. O., Harrington, Patricia, Hart, Steven N., Hartikainen, Jaana M., Healey, Catherine S., Hein, Alexander, Helbig, Sonja, Henderson, Alex, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Hodgson, Shirley, Hogervorst, Frans B., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Bob, Hopper, John L., Hu, Chunling, Huang, Guanmengqian, Hulick, Peter J., Humphreys, Keith, Hunter, David J., Imyanitov, Evgeny N., Isaacs, Claudine, Iwasaki, Motoki, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, Jensen, Uffe Birk, John, Esther M., Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kast, Karin, Keeman, Renske, Kerin, Michael J., Kets, Carolien M., Keupers, Machteld, Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I., Kim, Sung-Won, Knight, Julia A., Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela N., Kruse, Torben A., Kwong, Ava, Laenkholm, Anne-Vibeke, Laitman, Yael, Lalloo, Fiona, Lambrechts, Diether, Landsman, Keren, Lasset, Christine, Lazaro, Conxi, Le Marchand, Loic, Lecarpentier, Julie, Lee, Andrew, Lee, Eunjung, Lee, Jong Won, Lee, Min Hyuk, Lejbkowicz, Flavio, Lesueur, Fabienne, Li, Jingmei, Lilyquist, Jenna, Lincoln, Anne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Long, Jirong, Loud, Jennifer T., Lubinski, Jan, Luccarini, Craig, Lush, Michael, MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Kostovska, Ivana Maleva, Malone, Kathleen E., Manoukian, Siranoush, Manson, JoAnn E., Margolin, Sara, Martens, John W. M., Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, Mazoyer, Sylvie, McLean, Catriona, Meijers-Heijboer, Hanne, Menendez, Primitiva, Meyer, Jeffery, Miao, Hui, Miller, Austin, Miller, Nicola, Mitchell, Gillian, Montagna, Marco, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Nadesan, Sue, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nevelsteen, Ines, Niederacher, Dieter, Nielsen, Sune F., Nordestgaard, Borge G., Norman, Aaron, Nussbaum, Robert L., Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Olswold, Curtis, Ong, Kai-ren, Oosterwijk, Jan C., Orr, Nick, Osorio, Ana, Pankratz, V. Shane, Papi, Laura, Park-Simon, Tjoung-Won, Paulsson-Karlsson, Ylva, Lloyd, Rachel, Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Perez, Jose I. A., Peterlongo, Paolo, Peto, Julian, Pfeiler, Georg, Phelan, Catherine M., Pinchev, Mila, Plaseska-Karanfilska, Dijana, Poppe, Bruce, Porteous, Mary E., Prentice, Ross, Presneau, Nadege, Prokofieva, Darya, Pugh, Elizabeth, Angel Pujana, Miquel, Pylkas, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rennert, Hedy S., Rhenius, Valerie, Rhiem, Kerstin, Richardson, Andrea, Rodriguez, Gustavo C., Romero, Atocha, Romm, Jane, Rookus, Matti A., Rudolph, Anja, Ruediger, Thomas, Saloustros, Emmanouil, Sanders, Joyce, Sandler, Dale P., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Daniel F., Schoemaker, Minouk J., Schumacher, Fredrick, Schuermann, Peter, Schwentner, Lukas, Scott, Christopher, Scott, Rodney J., Seal, Sheila, Senter, Leigha, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Sheng, Xin, Shimelis, Hermela, Shrubsole, Martha J., Shu, Xiao-Ou, Side, Lucy E., Singer, Christian F., Sohn, Christof, Southey, Melissa C., Spinelli, John J., Spurdle, Amanda B., Stegmaier, Christa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Surowy, Harald, Sutter, Christian, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla M., Tan, Yen Y., Taylor, Jack A., Tejada, Maria-Isabel, Tengstrom, Maria, Teo, Soo H., Terry, Mary B., Tessier, Daniel C., Teule, Alex, Thoene, Kathrin, Thull, Darcy L., Tibiletti, Maria Grazia, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda E., Tollenaar, Rob A. E. M., Tomlinson, Ian, Tong, Ling, Torres, Diana, Tranchant, Martine, Truong, Therese, Tucker, Kathy, Tung, Nadine, Tyrer, Jonathan, Ulmer, Hans-Ulrich, Vachon, Celine, van Asperen, Christi J., Van Den Berg, David, van den Ouweland, Ans M. W., van Rensburg, Elizabeth J., Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Viel, Alessandra, Vijai, Joseph, Vincent, Daniel, Vollenweider, Jason, Walker, Lisa, Wang, Zhaoming, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wendt, Camilla, Wesseling, Jelle, Whittemore, Alice S., Wijnen, Juul T., Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Xia, Lucy, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zaffaroni, Daniela, Zheng, Wei, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, Zorn, Kristin K., Gago-Dominguez, Manuela, Mannermaa, Arto, Olsson, Hakan, Teixeira, Manuel R., Stone, Jennifer, Offit, Kenneth, Ottini, Laura, Park, Sue K., Thomassen, Mads, Hall, Per, Meindl, Alfons, Schmutzler, Rita K., Droit, Arnaud, Bader, Gary D., Pharoah, Paul D. P., Couch, Fergus J., Easton, Douglas F., Kraft, Peter, Chenevix-Trench, Georgia, Garcia-Closas, Montserrat, Schmidt, Marjanka K., Antoniou, Antonis C., Simard, Jacques, Milne, Roger L., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Beesley, Jonathan, Kar, Siddhartha, Lindstrom, Sara, Hui, Shirley, Lemacon, Audrey, Soucy, Penny, Dennis, Joe, Jiang, Xia, Rostamianfar, Asha, Finucane, Hilary, Bolla, Manjeet K., McGuffog, Lesley, Wang, Qin, Aalfs, Cora M., Adams, Marcia, Adlard, Julian, Agata, Simona, Ahmed, Shahana, Ahsan, Habibul, Aittomaki, Kristiina, Al-Ejeh, Fares, Allen, Jamie, Ambrosone, Christine B., Amos, Christopher I., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Auber, Bernd, Auer, Paul L., Ausems, Margreet G. E. M., Azzollini, Jacopo, Bacot, Francois, Balmana, Judith, Barile, Monica, Barjhoux, Laure, Barkardottir, Rosa B., Barrdahl, Myrto, Barnes, Daniel, Barrowdale, Daniel, Baynes, Caroline, Beckmann, Matthias W., Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Bignon, Yves-Jean, Blazer, Kathleen R., Blok, Marinus J., Blomqvist, Carl, Blot, William, Bobolis, Kristie, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Anders, Bojesen, Stig E., Bonanni, Bernardo, Borresen-Dale, Anne-Lise, Bozsik, Aniko, Bradbury, Angela R., Brand, Judith S., Brauch, Hiltrud, Brenner, Hermann, Bressac-de Paillerets, Brigitte, Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Brunet, Joan, Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Byun, Jinyoung, Cai, Qiuyin, Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Canzian, Federico, Caron, Olivier, Carracedo, Angel, Carter, Brian D., Esteban Castelao, J., Castera, Laurent, Caux-Moncoutier, Virginie, Chan, Salina B., Chang-Claude, Jenny, Chanock, Stephen J., Chen, Xiaoqing, Cheng, Ting-Yuan David, Chiquette, Jocelyne, Christiansen, Hans, Claes, Kathleen B. M., Clarke, Christine L., Conner, Thomas, Conroy, Don M., Cook, Jackie, Cordina-Duverger, Emilie, Cornelissen, Sten, Coupier, Isabelle, Cox, Angela, Cox, David G., Cross, Simon S., Cuk, Katarina, Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, Davidson, Rosemarie, De Leeneer, Kim, Devilee, Peter, Dicks, Ed, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Doheny, Kimberly F., Domchek, Susan M., Dorfling, Cecilia M., Doerk, Thilo, dos-Santos-Silva, Isabel, Dubois, Stephane, Dugue, Pierre-Antoine, Dumont, Martine, Dunning, Alison M., Durcan, Lorraine, Dwek, Miriam, Dworniczak, Bernd, Eccles, Diana, Eeles, Ros, Ehrencrona, Hans, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B., Eliassen, A. Heather, Engel, Christoph, Eriksson, Mikael, Fachal, Laura, Faivre, Laurence, Fasching, Peter A., Faust, Ulrike, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foulkes, William D., Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Gaddam, Pragna, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Garcia-Barberan, Vanesa, Garcia-Saenz, Jose A., Gaudet, Mia M., Gauthier-Villars, Marion, Gehrig, Andrea, Georgoulias, Vassilios, Gerdes, Anne-Marie, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Goodfellow, Paul, Greene, Mark H., Alnaes, Grethe I. Grenaker, Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Gschwantler-Kaulich, Daphne, Guenel, Pascal, Guo, Qi, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hallberg, Emily, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Hansen, Thomas V. O., Harrington, Patricia, Hart, Steven N., Hartikainen, Jaana M., Healey, Catherine S., Hein, Alexander, Helbig, Sonja, Henderson, Alex, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Hodgson, Shirley, Hogervorst, Frans B., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Bob, Hopper, John L., Hu, Chunling, Huang, Guanmengqian, Hulick, Peter J., Humphreys, Keith, Hunter, David J., Imyanitov, Evgeny N., Isaacs, Claudine, Iwasaki, Motoki, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, Jensen, Uffe Birk, John, Esther M., Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kast, Karin, Keeman, Renske, Kerin, Michael J., Kets, Carolien M., Keupers, Machteld, Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I., Kim, Sung-Won, Knight, Julia A., Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela N., Kruse, Torben A., Kwong, Ava, Laenkholm, Anne-Vibeke, Laitman, Yael, Lalloo, Fiona, Lambrechts, Diether, Landsman, Keren, Lasset, Christine, Lazaro, Conxi, Le Marchand, Loic, Lecarpentier, Julie, Lee, Andrew, Lee, Eunjung, Lee, Jong Won, Lee, Min Hyuk, Lejbkowicz, Flavio, Lesueur, Fabienne, Li, Jingmei, Lilyquist, Jenna, Lincoln, Anne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Long, Jirong, Loud, Jennifer T., Lubinski, Jan, Luccarini, Craig, Lush, Michael, MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Kostovska, Ivana Maleva, Malone, Kathleen E., Manoukian, Siranoush, Manson, JoAnn E., Margolin, Sara, Martens, John W. M., Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, Mazoyer, Sylvie, McLean, Catriona, Meijers-Heijboer, Hanne, Menendez, Primitiva, Meyer, Jeffery, Miao, Hui, Miller, Austin, Miller, Nicola, Mitchell, Gillian, Montagna, Marco, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Nadesan, Sue, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nevelsteen, Ines, Niederacher, Dieter, Nielsen, Sune F., Nordestgaard, Borge G., Norman, Aaron, Nussbaum, Robert L., Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Olswold, Curtis, Ong, Kai-ren, Oosterwijk, Jan C., Orr, Nick, Osorio, Ana, Pankratz, V. Shane, Papi, Laura, Park-Simon, Tjoung-Won, Paulsson-Karlsson, Ylva, Lloyd, Rachel, Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Perez, Jose I. A., Peterlongo, Paolo, Peto, Julian, Pfeiler, Georg, Phelan, Catherine M., Pinchev, Mila, Plaseska-Karanfilska, Dijana, Poppe, Bruce, Porteous, Mary E., Prentice, Ross, Presneau, Nadege, Prokofieva, Darya, Pugh, Elizabeth, Angel Pujana, Miquel, Pylkas, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rennert, Hedy S., Rhenius, Valerie, Rhiem, Kerstin, Richardson, Andrea, Rodriguez, Gustavo C., Romero, Atocha, Romm, Jane, Rookus, Matti A., Rudolph, Anja, Ruediger, Thomas, Saloustros, Emmanouil, Sanders, Joyce, Sandler, Dale P., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Daniel F., Schoemaker, Minouk J., Schumacher, Fredrick, Schuermann, Peter, Schwentner, Lukas, Scott, Christopher, Scott, Rodney J., Seal, Sheila, Senter, Leigha, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Sheng, Xin, Shimelis, Hermela, Shrubsole, Martha J., Shu, Xiao-Ou, Side, Lucy E., Singer, Christian F., Sohn, Christof, Southey, Melissa C., Spinelli, John J., Spurdle, Amanda B., Stegmaier, Christa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Surowy, Harald, Sutter, Christian, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla M., Tan, Yen Y., Taylor, Jack A., Tejada, Maria-Isabel, Tengstrom, Maria, Teo, Soo H., Terry, Mary B., Tessier, Daniel C., Teule, Alex, Thoene, Kathrin, Thull, Darcy L., Tibiletti, Maria Grazia, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda E., Tollenaar, Rob A. E. M., Tomlinson, Ian, Tong, Ling, Torres, Diana, Tranchant, Martine, Truong, Therese, Tucker, Kathy, Tung, Nadine, Tyrer, Jonathan, Ulmer, Hans-Ulrich, Vachon, Celine, van Asperen, Christi J., Van Den Berg, David, van den Ouweland, Ans M. W., van Rensburg, Elizabeth J., Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Viel, Alessandra, Vijai, Joseph, Vincent, Daniel, Vollenweider, Jason, Walker, Lisa, Wang, Zhaoming, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wendt, Camilla, Wesseling, Jelle, Whittemore, Alice S., Wijnen, Juul T., Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Xia, Lucy, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zaffaroni, Daniela, Zheng, Wei, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, Zorn, Kristin K., Gago-Dominguez, Manuela, Mannermaa, Arto, Olsson, Hakan, Teixeira, Manuel R., Stone, Jennifer, Offit, Kenneth, Ottini, Laura, Park, Sue K., Thomassen, Mads, Hall, Per, Meindl, Alfons, Schmutzler, Rita K., Droit, Arnaud, Bader, Gary D., Pharoah, Paul D. P., Couch, Fergus J., Easton, Douglas F., Kraft, Peter, Chenevix-Trench, Georgia, Garcia-Closas, Montserrat, Schmidt, Marjanka K., Antoniou, Antonis C., and Simard, Jacques
Abstract: Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease(1). We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 x 10(-8) with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.
Published: 2017

7. Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2

Author: Orr, Nick, Dudbridge, Frank, Dryden, Nicola, Maguire, Sarah, Novo, Daniela, Perrakis, Eleni, Johnson, Nichola, Ghoussaini, Maya, Hopper, John L., Southey, Melissa C., Apicella, Carmel, Stone, Jennifer, Schmidt, Marjanka K., Broeks, Annegien, Van't Veer, Laura J., Hogervorst, Frans B., Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Gibson, Lorna, Aitken, Zoe, Warren, Helen, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sohn, Chistof, Guenel, Pascal, Truong, Therese, Cordina-Duverger, Emilie, Sanchez, Marie, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Benitez, Javier, Zamora, Maria Pilar, Perez, Jose Ignacio Arias, Menendez, Primitiva, Anton-Culver, Hoda, Neuhausen, Susan L., Brenner, Hermann, Nevanlinna, Heli, Aittomaki, Kristiina, Blomqvist, Carl, Khan, Sofia, GENICA Network, kConFab Investigators, Australian Ovarian Canc Study Grp, Department of Obstetrics and Gynecology, Clinicum, Medicum, Kristiina Aittomäki / Principal Investigator, Department of Medical and Clinical Genetics, and Department of Oncology
Subjects: EXPRESSION, 3122 Cancers, 1184 Genetics, developmental biology, physiology, COMMON VARIANTS, ANALYSES REVEAL, 3123 Gynaecology and paediatrics, BINDING, CONFER SUSCEPTIBILITY, 1182 Biochemistry, cell and molecular biology, 3111 Biomedicine, GENOME-WIDE ASSOCIATION, ESTROGEN-RECEPTOR-ALPHA, FUNCTIONAL VARIANTS, FOXA1, RISK LOCUS
Abstract: We recently identified a novel susceptibility variant, rs865686, for estrogen-receptor positive breast cancer at 9q31.2. Here, we report a fine-mapping analysis of the 9q31.2 susceptibility locus using 43 160 cases and 42 600 controls of European ancestry ascertained from 52 studies and a further 5795 cases and 6624 controls of Asian ancestry from nine studies. Single nucleotide polymorphism (SNP) rs676256 was most strongly associated with risk in Europeans (odds ratios [OR] = 0.90 [0.88-0.92]; P-value = 1.58 x 10(-25)). This SNP is one of a cluster of highly correlated variants, including rs865686, that spans 14.5 kb. We identified two additional independent association signals demarcated by SNPs rs10816625 (OR = 1.12 [1.08-1.17]; P-value = 7.89 x 10(-09)) and rs13294895 (OR = 1.09 [1.06-1.12]; P-value = 2.97 x 10(-11)). SNP rs10816625, but not rs13294895, was also associated with risk of breast cancer in Asian individuals (OR = 1.12 [1.06-1.18]; P-value = 2.77 x 10(-05)). Functional genomic annotation using data derived from breast cancer cell-line models indicates that these SNPs localise to putative enhancer elements that bind known drivers of hormone-dependent breast cancer, including ER-alpha, FOXA1 and GATA-3. In vitro analyses indicate that rs10816625 and rs13294895 have allele-specific effects on enhancer activity and suggest chromatin interactions with the KLF4 gene locus. These results demonstrate the power of dense genotyping in large studies to identify independent susceptibility variants. Analysis of associations using subjects with different ancestry, combined with bioinformatic and genomic characterisation, can provide strong evidence for the likely causative alleles and their functional basis.
Published: 2015

8. Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2

Author: Orr, Nick, Dudbridge, Frank, Dryden, Nicola, Maguire, Sarah, Novo, Daniela, Perrakis, Eleni, Johnson, Nichola, Ghoussaini, Maya, Hopper, John L., Southey, Melissa C., Apicella, Carmel, Stone, Jennifer, Schmidt, Marjanka K., Broeks, Annegien, Van't Veer, Laura J., Hogervorst, Frans B., Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Gibson, Lorna, Aitken, Zoe, Warren, Helen, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sohn, Chistof, Guenel, Pascal, Truong, Therese, Cordina-Duverger, Emilie, Sanchez, Marie, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Benitez, Javier, Zamora, Maria Pilar, Arias Perez, Jose Ignacio, Menendez, Primitiva, Anton-Culver, Hoda, Neuhausen, Susan L., Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, and Hamann, Ute et al.
Subjects: ddc
Published: 2014

9. Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility

Author: University of Helsinki, Department of Obstetrics and Gynecology, University of Helsinki, Haartman Institute (-2009), Lei, Jieping, Rudolph, Anja, Moysich, Kirsten B., Behrens, Sabine, Goode, Ellen L., Bolla, Manjeet K., Dennis, Joe, Dunning, Alison M., Easton, Douglas F., Wang, Qin, Benitez, Javier, Hopper, John L., Southey, Melissa C., Schmidt, Marjanka K., Broeks, Annegien, Fasching, Peter A., Haeberle, Lothar, Peto, Julian, dos-Santos-Silva, Isabel, Sawyer, Elinor J., Tomlinson, Ian, Burwinkel, Barbara, Marme, Frederik, Guenel, Pascal, Truong, Therese, Bojesen, Stig E., Flyger, Henrik, Nielsen, Sune F., Nordestgaard, Borge G., Gonzalez-Neira, Anna, Menendez, Primitiva, Anton-Culver, Hoda, Neuhausen, Susan L., Brenner, Hermann, Arndt, Volker, Meindl, Alfons, Schmutzler, Rita K., Brauch, Hiltrud, Hamann, Ute, Nevanlinna, Heli, Fagerholm, Rainer, Doerk, Thilo, Bogdanova, Natalia V., Mannermaa, Arto, Hartikainen, Jaana M., Van Dijck, Laurien, Smeets, Ann, Flesch-Janys, Dieter, Eilber, Ursula, Radice, Paolo, Peterlongo, Paolo, Couch, Fergus J., Hallberg, Emily, Giles, Graham G., Milne, Roger L., Haiman, Christopher A., Schumacher, Fredrick, Simard, Jacques, Goldberg, Mark S., Kristensen, Vessela, Borresen-Dale, Anne-Lise, Zheng, Wei, Beeghly-Fadiel, Alicia, Winqvist, Robert, Grip, Mervi, Andrulis, Irene L., Glendon, Gord, Garcia-Closas, Montserrat, Figueroa, Jonine, Czene, Kamila, Brand, Judith S., Darabi, Hatef, Eriksson, Mikael, Hall, Per, Li, Jingmei, Cox, Angela, Cross, Simon S., Pharoah, Paul D. P., Shah, Mitul, Kabisch, Maria, Torres, Diana, Jakubowska, Anna, Lubinski, Jan, Ademuyiwa, Foluso, Ambrosone, Christine B., Swerdlow, Anthony, Jones, Michael, Chang-Claude, Jenny, University of Helsinki, Department of Obstetrics and Gynecology, University of Helsinki, Haartman Institute (-2009), Lei, Jieping, Rudolph, Anja, Moysich, Kirsten B., Behrens, Sabine, Goode, Ellen L., Bolla, Manjeet K., Dennis, Joe, Dunning, Alison M., Easton, Douglas F., Wang, Qin, Benitez, Javier, Hopper, John L., Southey, Melissa C., Schmidt, Marjanka K., Broeks, Annegien, Fasching, Peter A., Haeberle, Lothar, Peto, Julian, dos-Santos-Silva, Isabel, Sawyer, Elinor J., Tomlinson, Ian, Burwinkel, Barbara, Marme, Frederik, Guenel, Pascal, Truong, Therese, Bojesen, Stig E., Flyger, Henrik, Nielsen, Sune F., Nordestgaard, Borge G., Gonzalez-Neira, Anna, Menendez, Primitiva, Anton-Culver, Hoda, Neuhausen, Susan L., Brenner, Hermann, Arndt, Volker, Meindl, Alfons, Schmutzler, Rita K., Brauch, Hiltrud, Hamann, Ute, Nevanlinna, Heli, Fagerholm, Rainer, Doerk, Thilo, Bogdanova, Natalia V., Mannermaa, Arto, Hartikainen, Jaana M., Van Dijck, Laurien, Smeets, Ann, Flesch-Janys, Dieter, Eilber, Ursula, Radice, Paolo, Peterlongo, Paolo, Couch, Fergus J., Hallberg, Emily, Giles, Graham G., Milne, Roger L., Haiman, Christopher A., Schumacher, Fredrick, Simard, Jacques, Goldberg, Mark S., Kristensen, Vessela, Borresen-Dale, Anne-Lise, Zheng, Wei, Beeghly-Fadiel, Alicia, Winqvist, Robert, Grip, Mervi, Andrulis, Irene L., Glendon, Gord, Garcia-Closas, Montserrat, Figueroa, Jonine, Czene, Kamila, Brand, Judith S., Darabi, Hatef, Eriksson, Mikael, Hall, Per, Li, Jingmei, Cox, Angela, Cross, Simon S., Pharoah, Paul D. P., Shah, Mitul, Kabisch, Maria, Torres, Diana, Jakubowska, Anna, Lubinski, Jan, Ademuyiwa, Foluso, Ambrosone, Christine B., Swerdlow, Anthony, Jones, Michael, and Chang-Claude, Jenny
Abstract: Immunosuppression plays a pivotal role in assisting tumors to evade immune destruction and promoting tumor development. We hypothesized that genetic variation in the immunosuppression pathway genes may be implicated in breast cancer tumorigenesis. We included 42,510 female breast cancer cases and 40,577 controls of European ancestry from 37 studies in the Breast Cancer Association Consortium (2015) with available genotype data for 3595 single nucleotide polymorphisms (SNPs) in 133 candidate genes. Associations between genotyped SNPs and overall breast cancer risk, and secondarily according to estrogen receptor (ER) status, were assessed using multiple logistic regression models. Gene-level associations were assessed based on principal component analysis. Gene expression analyses were conducted using RNA sequencing level 3 data from The Cancer Genome Atlas for 989 breast tumor samples and 113 matched normal tissue samples. SNP rs1905339 (A > G) in the STAT3 region was associated with an increased breast cancer risk (per allele odds ratio 1.05, 95 % confidence interval 1.03-1.08; p value = 1.4 x 10(-6)). The association did not differ significantly by ER status. On the gene level, in addition to TGFBR2 and CCND1, IL5 and GM-CSF showed the strongest associations with overall breast cancer risk (p value = 1.0 x 10(-3) and 7.0 x 10(-3), respectively). Furthermore, STAT3 and IL5 but not GM-CSF were differentially expressed between breast tumor tissue and normal tissue (p value = 2.5 x 10(-3), 4.5 x 10(-4) and 0.63, respectively). Our data provide evidence that the immunosuppression pathway genes STAT3, IL5, and GM-CSF may be novel susceptibility loci for breast cancer in women of European ancestry.
Published: 2016

10. Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium

Author: Lei, Jieping, Rudolph, Anja, Moysich, Kirsten B., Behrens, Sabine, Goode, Ellen L., Bolla, Manjeet K., Dennis, Joe, Dunning, Alison M., Easton, Douglas F., Wang, Qin, Benitez, Javier, Hopper, John L., Southey, Melissa C., Schmidt, Marjanka K., Broeks, Annegien, Fasching, Peter A., Haeberle, Lothar, Peto, Julian, dos-Santos-Silva, Isabel, Sawyer, Elinor J., Tomlinson, Ian, Burwinkel, Barbara, Marme, Frederik, Guenel, Pascal, Truong, Therese, Bojesen, Stig E., Flyger, Henrik, Nielsen, Sune F., Nordestgaard, Borge G., Gonzalez-Neira, Anna, Menendez, Primitiva, Anton-Culver, Hoda, Neuhausen, Susan L., Brenner, Hermann, Arndt, Volker, Meindl, Alfons, Schmutzler, Rita K., Brauch, Hiltrud, Hamann, Ute, Nevanlinna, Heli, Fagerholm, Rainer, Doerk, Thilo, Bogdanova, Natalia V., Mannermaa, Arto, Hartikainen, Jaana M., Van Dijck, Laurien, Smeets, Ann, Flesch-Janys, Dieter, Eilber, Ursula, Radice, Paolo, Peterlongo, Paolo, Couch, Fergus J., Hallberg, Emily, Giles, Graham G., Milne, Roger L., Haiman, Christopher A., Schumacher, Fredrick, Simard, Jacques, Goldberg, Mark S., Kristensen, Vessela, Borresen-Dale, Anne-Lise, Zheng, Wei, Beeghly-Fadiel, Alicia, Winqvist, Robert, Grip, Mervi, Andrulis, Irene L., Glendon, Gord, Garcia-Closas, Montserrat, Figueroa, Jonine, Czene, Kamila, Brand, Judith S., Darabi, Hatef, Eriksson, Mikael, Hall, Per, Li, Jingmei, Cox, Angela, Cross, Simon S., Pharoah, Paul D. P., Shah, Mitul, Kabisch, Maria, Torres, Diana, Jakubowska, Anna, Lubinski, Jan, Ademuyiwa, Foluso, Ambrosone, Christine B., Swerdlow, Anthony, Jones, Michael, Chang-Claude, Jenny, Lei, Jieping, Rudolph, Anja, Moysich, Kirsten B., Behrens, Sabine, Goode, Ellen L., Bolla, Manjeet K., Dennis, Joe, Dunning, Alison M., Easton, Douglas F., Wang, Qin, Benitez, Javier, Hopper, John L., Southey, Melissa C., Schmidt, Marjanka K., Broeks, Annegien, Fasching, Peter A., Haeberle, Lothar, Peto, Julian, dos-Santos-Silva, Isabel, Sawyer, Elinor J., Tomlinson, Ian, Burwinkel, Barbara, Marme, Frederik, Guenel, Pascal, Truong, Therese, Bojesen, Stig E., Flyger, Henrik, Nielsen, Sune F., Nordestgaard, Borge G., Gonzalez-Neira, Anna, Menendez, Primitiva, Anton-Culver, Hoda, Neuhausen, Susan L., Brenner, Hermann, Arndt, Volker, Meindl, Alfons, Schmutzler, Rita K., Brauch, Hiltrud, Hamann, Ute, Nevanlinna, Heli, Fagerholm, Rainer, Doerk, Thilo, Bogdanova, Natalia V., Mannermaa, Arto, Hartikainen, Jaana M., Van Dijck, Laurien, Smeets, Ann, Flesch-Janys, Dieter, Eilber, Ursula, Radice, Paolo, Peterlongo, Paolo, Couch, Fergus J., Hallberg, Emily, Giles, Graham G., Milne, Roger L., Haiman, Christopher A., Schumacher, Fredrick, Simard, Jacques, Goldberg, Mark S., Kristensen, Vessela, Borresen-Dale, Anne-Lise, Zheng, Wei, Beeghly-Fadiel, Alicia, Winqvist, Robert, Grip, Mervi, Andrulis, Irene L., Glendon, Gord, Garcia-Closas, Montserrat, Figueroa, Jonine, Czene, Kamila, Brand, Judith S., Darabi, Hatef, Eriksson, Mikael, Hall, Per, Li, Jingmei, Cox, Angela, Cross, Simon S., Pharoah, Paul D. P., Shah, Mitul, Kabisch, Maria, Torres, Diana, Jakubowska, Anna, Lubinski, Jan, Ademuyiwa, Foluso, Ambrosone, Christine B., Swerdlow, Anthony, Jones, Michael, and Chang-Claude, Jenny
Abstract: Immunosuppression plays a pivotal role in assisting tumors to evade immune destruction and promoting tumor development. We hypothesized that genetic variation in the immunosuppression pathway genes may be implicated in breast cancer tumorigenesis. We included 42,510 female breast cancer cases and 40,577 controls of European ancestry from 37 studies in the Breast Cancer Association Consortium (2015) with available genotype data for 3595 single nucleotide polymorphisms (SNPs) in 133 candidate genes. Associations between genotyped SNPs and overall breast cancer risk, and secondarily according to estrogen receptor (ER) status, were assessed using multiple logistic regression models. Gene-level associations were assessed based on principal component analysis. Gene expression analyses were conducted using RNA sequencing level 3 data from The Cancer Genome Atlas for 989 breast tumor samples and 113 matched normal tissue samples. SNP rs1905339 (A > G) in the STAT3 region was associated with an increased breast cancer risk (per allele odds ratio 1.05, 95 % confidence interval 1.03-1.08; p value = 1.4 x 10(-6)). The association did not differ significantly by ER status. On the gene level, in addition to TGFBR2 and CCND1, IL5 and GM-CSF showed the strongest associations with overall breast cancer risk (p value = 1.0 x 10(-3) and 7.0 x 10(-3), respectively). Furthermore, STAT3 and IL5 but not GM-CSF were differentially expressed between breast tumor tissue and normal tissue (p value = 2.5 x 10(-3), 4.5 x 10(-4) and 0.63, respectively). Our data provide evidence that the immunosuppression pathway genes STAT3, IL5, and GM-CSF may be novel susceptibility loci for breast cancer in women of European ancestry.
Published: 2016

11. Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

Author: Lin, Wei-Yu, Camp, Nicola J., Ghoussaini, Maya, Beesley, Jonathan, Michailidou, Kyriaki, Hopper, John L., Apicella, Carmel, Southey, Melissa C., Stone, Jennifer, Schmidt, Marjanka K., Broeks, Annegien, Van't Veer, Laura J., Rutgers, Emiel J. Th, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, Dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Sawyer, Elinor J., Cheng, Timothy, Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Marme, Frederik, Surowy, Harald M., Burwinkel, Barbara, Guenel, Pascal, Truong, Therese, Menegaux, Florence, Mulot, Claire, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Benitez, Javier, Zamora, M. Pilar, Arias Perez, Jose Ignacio, Menendez, Primitiva, Gonzalez-Neira, Anna, Pita, Guillermo, Rosario Alonso, M., Alvarez, Nuria, Herrera, Daniel, Anton-Culver, Hoda, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita K., Mueller-Myhsok, Bertram, Brauch, Hiltrud, Bruening, Thomas, Ko, Yon-Dschun, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Nevanlinna, Heli, Aittomaeki, Kristiina, Blomqvist, Carl, Khan, Sofia, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Horio, Akiyo, Bogdanova, Natalia V., Antonenkova, Natalia N., Doerk, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Wu, Anna H., Tseng, Chiu-Chen, Van den Berg, David, Stram, Daniel O., Neven, Patrick, Wauters, Els, Wildiers, Hans, Lambrechts, Diether, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Bonanni, Bernardo, Couch, Fergus J., Wang, Xianshu, Vachon, Celine, Purrington, Kristen, Giles, Graham G., Milne, Roger L., Mclean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Teo, Soo Hwang, Yip, Cheng Har, Hassan, Norhashimah, Vithana, Eranga Nishanthie, Kristensen, Vessela, Zheng, Wei, Deming-Halverson, Sandra, Shrubsole, Martha J., Long, Jirong, Winqvist, Robert, Pylkaes, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Garcia-Closas, Montserrat, Figueroa, Jonine, Lissowska, Jolanta, Brinton, Louise, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Brand, Judith S., Hooning, Maartje J., Hollestelle, Antoinette, Van den Ouweland, Ans M. W., Jager, Agnes, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cross, Simon S., Reed, Malcolm W. R., Blot, William, Signorello, Lisa B., Cai, Qiuyin, Pharoah, Paul D. P., Perkins, Barbara, Shah, Mitul, Blows, Fiona M., Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Hartman, Mikael, Miao, Hui, Chia, Kee Seng, Putti, Thomas Choudary, Hamann, Ute, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Yannoukakos, Drakoulis, Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Ding, Shian-ling, Ashworth, Alan, Jones, Michael, Orr, Nick, Swerdlow, Anthony J., Tsimiklis, Helen, Makalic, Enes, Schmidt, Daniel F., Bui, Quang M., Chanock, Stephen J., Hunter, David J., Hein, Rebecca, Dahmen, Norbert, Beckmann, Lars, Aaltonen, Kirsimari, Muranen, Taru A., Heikkinen, Tuomas, Irwanto, Astrid, Rahman, Nazneen, Turnbull, Clare A., Waisfisz, Quinten, Meijers-Heijboer, Hanne E. J., Adank, Muriel A., Van der Luijt, Rob B., Hall, Per, Chenevix-Trench, Georgia, Dunning, Alison, Easton, Douglas F., Cox, Angela, Lin, Wei-Yu, Camp, Nicola J., Ghoussaini, Maya, Beesley, Jonathan, Michailidou, Kyriaki, Hopper, John L., Apicella, Carmel, Southey, Melissa C., Stone, Jennifer, Schmidt, Marjanka K., Broeks, Annegien, Van't Veer, Laura J., Rutgers, Emiel J. Th, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, Dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Sawyer, Elinor J., Cheng, Timothy, Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Marme, Frederik, Surowy, Harald M., Burwinkel, Barbara, Guenel, Pascal, Truong, Therese, Menegaux, Florence, Mulot, Claire, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Benitez, Javier, Zamora, M. Pilar, Arias Perez, Jose Ignacio, Menendez, Primitiva, Gonzalez-Neira, Anna, Pita, Guillermo, Rosario Alonso, M., Alvarez, Nuria, Herrera, Daniel, Anton-Culver, Hoda, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita K., Mueller-Myhsok, Bertram, Brauch, Hiltrud, Bruening, Thomas, Ko, Yon-Dschun, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Nevanlinna, Heli, Aittomaeki, Kristiina, Blomqvist, Carl, Khan, Sofia, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Horio, Akiyo, Bogdanova, Natalia V., Antonenkova, Natalia N., Doerk, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Wu, Anna H., Tseng, Chiu-Chen, Van den Berg, David, Stram, Daniel O., Neven, Patrick, Wauters, Els, Wildiers, Hans, Lambrechts, Diether, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Bonanni, Bernardo, Couch, Fergus J., Wang, Xianshu, Vachon, Celine, Purrington, Kristen, Giles, Graham G., Milne, Roger L., Mclean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Teo, Soo Hwang, Yip, Cheng Har, Hassan, Norhashimah, Vithana, Eranga Nishanthie, Kristensen, Vessela, Zheng, Wei, Deming-Halverson, Sandra, Shrubsole, Martha J., Long, Jirong, Winqvist, Robert, Pylkaes, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Garcia-Closas, Montserrat, Figueroa, Jonine, Lissowska, Jolanta, Brinton, Louise, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Brand, Judith S., Hooning, Maartje J., Hollestelle, Antoinette, Van den Ouweland, Ans M. W., Jager, Agnes, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cross, Simon S., Reed, Malcolm W. R., Blot, William, Signorello, Lisa B., Cai, Qiuyin, Pharoah, Paul D. P., Perkins, Barbara, Shah, Mitul, Blows, Fiona M., Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Hartman, Mikael, Miao, Hui, Chia, Kee Seng, Putti, Thomas Choudary, Hamann, Ute, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Yannoukakos, Drakoulis, Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Ding, Shian-ling, Ashworth, Alan, Jones, Michael, Orr, Nick, Swerdlow, Anthony J., Tsimiklis, Helen, Makalic, Enes, Schmidt, Daniel F., Bui, Quang M., Chanock, Stephen J., Hunter, David J., Hein, Rebecca, Dahmen, Norbert, Beckmann, Lars, Aaltonen, Kirsimari, Muranen, Taru A., Heikkinen, Tuomas, Irwanto, Astrid, Rahman, Nazneen, Turnbull, Clare A., Waisfisz, Quinten, Meijers-Heijboer, Hanne E. J., Adank, Muriel A., Van der Luijt, Rob B., Hall, Per, Chenevix-Trench, Georgia, Dunning, Alison, Easton, Douglas F., and Cox, Angela
Abstract: Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regression models adjusting for study and ancestry principal components. The SNPs retained in the final model were investigated further in data from nine genome-wide association studies (GWAS) comprising in total 10 052 case and 12 575 control subjects. The most significant association signal observed in European subjects was for the imputed intronic SNP rs1830298 in ALS2CR12 (telomeric to CASP8), with per allele odds ratio and 95% confidence interval [OR (95% confidence interval, Cl)] for the minor allele of 1.05(1.03-1.07), P = 1 x 10(-5). Three additional independent signals from intronic SNPs were identified, in CASP8 (rs36043647), ALS2CR11 (rs59278883) and CFLAR (rs7558475). The association with rs1830298 was replicated in the imputed results from the combined GWAS (P = 3 x 10(-6)), yielding a combined OR (95% Cl) of 1.06(1.04-1.08), P = 1 x 10(-9). Analyses of gene expression associations in peripheral blood and normal breast tissue indicate that CASP8 might be the target gene, suggesting a mechanism involving apoptosis.
Published: 2015

12. Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

Author: Mavaddat, Nasim, Pharoah, Paul D. P., Michailidou, Kyriaki, Tyrer, Jonathan, Brook, Mark N., Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Dunning, Alison M., Shah, Mitul, Luben, Robert, Brown, Judith, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Peto, Julian, dos-Santos-Silva, Isabel, Dudbridge, Frank, Johnson, Nichola, Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Rutgers, Emiel J., Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Figueroa, Jonine, Chanock, Stephen J., Brinton, Louise, Lissowska, Jolanta, Couch, Fergus J., Olson, Janet E., Vachon, Celine, Pankratz, Vernon S., Lambrechts, Diether, Wildiers, Hans, Van Ongeval, Chantal, Van Limbergen, Erik, Kristensen, Vessela, Alnaes, Grethe Grenaker, Nord, Silje, Borresen-Dale, Anne-Lise, Nevanlinna, Heli, Muranen, Taru A., Aittomaeki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Trentham-Dietz, Amy, Newcomb, Polly, Titus, Linda, Egan, Kathleen M., Hunter, David J., Lindstrom, Sara, Tamimi, Rulla M., Kraft, Peter, Rahman, Nazneen, Turnbull, Clare, Renwick, Anthony, Seal, Sheila, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Benitez, Javier, Zamora, M. Pilar, Perez, Jose Ignacio Arias, Menendez, Primitiva, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Bogdanova, Natalia V., Antonenkova, Natalia N., Doerk, Thilo, Anton-Culver, Hoda, Neuhausen, Susan L., Ziogas, Argyrios, Bernstein, Leslie, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, van Asperen, Christi J., Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Khusnutdinova, Elza, Bermisheva, Marina, Prokofyeva, Darya, Takhirova, Zalina, Meindl, Alfons, Schmutzler, Rita K., Sutter, Christian, Yang, Rongxi, Schuermann, Peter, Bremer, Michael, Christiansen, Hans, Park-Simon, Tjoung-Won, Hillemanns, Peter, Guenel, Pascal, Truong, Therese, Menegaux, Florence, Sanchez, Marie, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Pensotti, Valeria, Hopper, John L., Tsimiklis, Helen, Apicella, Carmel, Southey, Melissa C., Brauch, Hiltrud, Bruening, Thomas, Ko, Yon-Dschun, Sigurdson, Alice J., Doody, Michele M., Hamann, Ute, Torres, Diana, Ulmer, Hans-Ulrich, Försti, Asta, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Chenevix-Trench, Georgia, Balleine, Rosemary, Giles, Graham G., Milne, Roger L., McLean, Catriona, Lindblom, Annika, Margolin, Sara, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Eilber, Ursula, Wang-Gohrke, Shan, Hooning, Maartje J., Hollestelle, Antoinette, van den Ouweland, Ans M. W., Koppert, Linetta B., Carpenter, Jane, Clarke, Christine, Scott, Rodney, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Brenner, Hermann, Arndt, Volker, Stegmaier, Christa, Dieffenbach, Aida Karina, Winqvist, Robert, Pylkaes, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Offit, Kenneth, Vijai, Joseph, Robson, Mark, Rau-Murthy, Rohini, Dwek, Miriam, Swann, Ruth, Perkins, Katherine Annie, Goldberg, Mark S., Labreche, France, Dumont, Martine, Eccles, Diana M., Tapper, William J., Rafiq, Sajjad, John, Esther M., Whittemore, Alice S., Slager, Susan, Yannoukakos, Drakoulis, Toland, Amanda E., Yao, Song, Zheng, Wei, Halverson, Sandra L., Gonzalez-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Alvarez, Nuria, Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., Simard, Jacques, Hall, Per, Easton, Douglas F., Garcia-Closas, Montserrat, Mavaddat, Nasim, Pharoah, Paul D. P., Michailidou, Kyriaki, Tyrer, Jonathan, Brook, Mark N., Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Dunning, Alison M., Shah, Mitul, Luben, Robert, Brown, Judith, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Peto, Julian, dos-Santos-Silva, Isabel, Dudbridge, Frank, Johnson, Nichola, Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Rutgers, Emiel J., Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Figueroa, Jonine, Chanock, Stephen J., Brinton, Louise, Lissowska, Jolanta, Couch, Fergus J., Olson, Janet E., Vachon, Celine, Pankratz, Vernon S., Lambrechts, Diether, Wildiers, Hans, Van Ongeval, Chantal, Van Limbergen, Erik, Kristensen, Vessela, Alnaes, Grethe Grenaker, Nord, Silje, Borresen-Dale, Anne-Lise, Nevanlinna, Heli, Muranen, Taru A., Aittomaeki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Trentham-Dietz, Amy, Newcomb, Polly, Titus, Linda, Egan, Kathleen M., Hunter, David J., Lindstrom, Sara, Tamimi, Rulla M., Kraft, Peter, Rahman, Nazneen, Turnbull, Clare, Renwick, Anthony, Seal, Sheila, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Benitez, Javier, Zamora, M. Pilar, Perez, Jose Ignacio Arias, Menendez, Primitiva, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Bogdanova, Natalia V., Antonenkova, Natalia N., Doerk, Thilo, Anton-Culver, Hoda, Neuhausen, Susan L., Ziogas, Argyrios, Bernstein, Leslie, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, van Asperen, Christi J., Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Khusnutdinova, Elza, Bermisheva, Marina, Prokofyeva, Darya, Takhirova, Zalina, Meindl, Alfons, Schmutzler, Rita K., Sutter, Christian, Yang, Rongxi, Schuermann, Peter, Bremer, Michael, Christiansen, Hans, Park-Simon, Tjoung-Won, Hillemanns, Peter, Guenel, Pascal, Truong, Therese, Menegaux, Florence, Sanchez, Marie, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Pensotti, Valeria, Hopper, John L., Tsimiklis, Helen, Apicella, Carmel, Southey, Melissa C., Brauch, Hiltrud, Bruening, Thomas, Ko, Yon-Dschun, Sigurdson, Alice J., Doody, Michele M., Hamann, Ute, Torres, Diana, Ulmer, Hans-Ulrich, Försti, Asta, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Chenevix-Trench, Georgia, Balleine, Rosemary, Giles, Graham G., Milne, Roger L., McLean, Catriona, Lindblom, Annika, Margolin, Sara, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Eilber, Ursula, Wang-Gohrke, Shan, Hooning, Maartje J., Hollestelle, Antoinette, van den Ouweland, Ans M. W., Koppert, Linetta B., Carpenter, Jane, Clarke, Christine, Scott, Rodney, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Brenner, Hermann, Arndt, Volker, Stegmaier, Christa, Dieffenbach, Aida Karina, Winqvist, Robert, Pylkaes, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Offit, Kenneth, Vijai, Joseph, Robson, Mark, Rau-Murthy, Rohini, Dwek, Miriam, Swann, Ruth, Perkins, Katherine Annie, Goldberg, Mark S., Labreche, France, Dumont, Martine, Eccles, Diana M., Tapper, William J., Rafiq, Sajjad, John, Esther M., Whittemore, Alice S., Slager, Susan, Yannoukakos, Drakoulis, Toland, Amanda E., Yao, Song, Zheng, Wei, Halverson, Sandra L., Gonzalez-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Alvarez, Nuria, Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., Simard, Jacques, Hall, Per, Easton, Douglas F., and Garcia-Closas, Montserrat
Abstract: Background: Data for multiple common susceptibility alleles for breast cancer may be combined to identify women at different levels of breast cancer risk. Such stratification could guide preventive and screening strategies. However, empirical evidence for genetic risk stratification is lacking. Methods: We investigated the value of using 77 breast cancer-associated single nucleotide polymorphisms (SNPs) for risk stratification, in a study of 33 673 breast cancer cases and 33 381 control women of European origin. We tested all possible pair-wise multiplicative interactions and constructed a 77-SNP polygenic risk score (PRS) for breast cancer overall and by estrogen receptor (ER) status. Absolute risks of breast cancer by PRS were derived from relative risk estimates and UK incidence and mortality rates. Results: There was no strong evidence for departure from a multiplicative model for any SNP pair. Women in the highest 1% of the PRS had a three-fold increased risk of developing breast cancer compared with women in the middle quintile (odds ratio [OR] = 3.36, 95% confidence interval [CI] = 2.95 to 3.83). The ORs for ER-positive and ER-negative disease were 3.73 (95% CI = 3.24 to 4.30) and 2.80 (95% CI = 2.26 to 3.46), respectively. Lifetime risk of breast cancer for women in the lowest and highest quintiles of the PRS were 5.2% and 16.6% for a woman without family history, and 8.6% and 24.4% for a woman with a first-degree family history of breast cancer. Conclusions: The PRS stratifies breast cancer risk in women both with and without a family history of breast cancer. The observed level of risk discrimination could inform targeted screening and prevention strategies. Further discrimination may be achievable through combining the PRS with lifestyle/environmental factors, although these were not considered in this report.
Published: 2015

13. Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast

Author: University of Helsinki, Department of Obstetrics and Gynecology, University of Helsinki, Haartman Institute, University of Helsinki, Clinicum, Sawyer, Elinor, Roylance, Rebecca, Petridis, Christos, Brook, Mark N., Nowinski, Salpie, Papouli, Efterpi, Fletcher, Olivia, Pinder, Sarah, Hanby, Andrew, Kohut, Kelly, Gorman, Patricia, Caneppele, Michele, Peto, Julian, Silva, Isabel dos Santos, Johnson, Nichola, Swann, Ruth, Dwek, Miriam, Perkins, Katherine-Anne, Gillett, Cheryl, Houlston, Richard, Ross, Gillian, De Ieso, Paolo, Southey, Melissa C., Hopper, John L., Provenzano, Elena, Apicella, Carmel, Wesseling, Jelle, Cornelissen, Sten, Keeman, Renske, Fasching, Peter A., Jud, Sebastian M., Ekici, Arif B., Beckmann, Matthias W., Kerin, Michael J., Marme, Federick, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Guenel, Pascal, Truong, Therese, Laurent-Puig, Pierre, Kerbrat, Pierre, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Milne, Roger L., Perez, Jose Ignacio Arias, Menendez, Primitiva, Benitez, Javier, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita K., Lochmann, Magdalena, Brauch, Hiltrud, Fischer, Hans-Peter, Ko, Yon-Dschun, Nevanlinna, Heli, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia V., Dork, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Chenevix-Trench, Georgia, Lambrechts, Diether, Weltens, Caroline, Van Limbergen, Erik, Hatse, Sigrid, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Bonanni, Bernardo, Volorio, Sara, Giles, Graham G., Severi, Gianluca, Baglietto, Laura, Mclean, Catriona A., Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Kristensen, Vessela, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Devillee, Peter, Tollenaar, Rob A. E. M., Seynaeve, Caroline M., Kriege, Mieke, Figueroa, Jonine, Chanock, Stephen J., Sherman, Mark E., Hooning, Maartje J., Hollestelle, Antoinette, van den Ouweland, Ans M. W., van Deurzen, Carolien H. M., Li, Jingmei, Czene, Kamila, Humphreys, Keith, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Shah, Mitul, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Swerdlow, Anthony, Ashworth, Alan, Orr, Nicholas, Schoemaker, Minouk, Couch, Fergus J., Hallberg, Emily, Gonzalez-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, Dunning, Alison M., Hall, Per, Easton, Doug, Pharoah, Paul, Schmidt, Marjanka K., Tomlinson, Ian, Garcia-Closas, Montserrat, GENICA Network, KConFab Investigators, University of Helsinki, Department of Obstetrics and Gynecology, University of Helsinki, Haartman Institute, University of Helsinki, Clinicum, Sawyer, Elinor, Roylance, Rebecca, Petridis, Christos, Brook, Mark N., Nowinski, Salpie, Papouli, Efterpi, Fletcher, Olivia, Pinder, Sarah, Hanby, Andrew, Kohut, Kelly, Gorman, Patricia, Caneppele, Michele, Peto, Julian, Silva, Isabel dos Santos, Johnson, Nichola, Swann, Ruth, Dwek, Miriam, Perkins, Katherine-Anne, Gillett, Cheryl, Houlston, Richard, Ross, Gillian, De Ieso, Paolo, Southey, Melissa C., Hopper, John L., Provenzano, Elena, Apicella, Carmel, Wesseling, Jelle, Cornelissen, Sten, Keeman, Renske, Fasching, Peter A., Jud, Sebastian M., Ekici, Arif B., Beckmann, Matthias W., Kerin, Michael J., Marme, Federick, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Guenel, Pascal, Truong, Therese, Laurent-Puig, Pierre, Kerbrat, Pierre, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Milne, Roger L., Perez, Jose Ignacio Arias, Menendez, Primitiva, Benitez, Javier, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita K., Lochmann, Magdalena, Brauch, Hiltrud, Fischer, Hans-Peter, Ko, Yon-Dschun, Nevanlinna, Heli, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia V., Dork, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Chenevix-Trench, Georgia, Lambrechts, Diether, Weltens, Caroline, Van Limbergen, Erik, Hatse, Sigrid, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Bonanni, Bernardo, Volorio, Sara, Giles, Graham G., Severi, Gianluca, Baglietto, Laura, Mclean, Catriona A., Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Kristensen, Vessela, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Devillee, Peter, Tollenaar, Rob A. E. M., Seynaeve, Caroline M., Kriege, Mieke, Figueroa, Jonine, Chanock, Stephen J., Sherman, Mark E., Hooning, Maartje J., Hollestelle, Antoinette, van den Ouweland, Ans M. W., van Deurzen, Carolien H. M., Li, Jingmei, Czene, Kamila, Humphreys, Keith, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Shah, Mitul, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Swerdlow, Anthony, Ashworth, Alan, Orr, Nicholas, Schoemaker, Minouk, Couch, Fergus J., Hallberg, Emily, Gonzalez-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, Dunning, Alison M., Hall, Per, Easton, Doug, Pharoah, Paul, Schmidt, Marjanka K., Tomlinson, Ian, Garcia-Closas, Montserrat, GENICA Network, and KConFab Investigators
Published: 2014

14. Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast

Author: Sawyer, Elinor, Roylance, Rebecca, Petridis, Christos, Brook, Mark N., Nowinski, Salpie, Papouli, Efterpi, Fletcher, Olivia, Pinder, Sarah, Hanby, Andrew, Kohut, Kelly, Gorman, Patricia, Caneppele, Michele, Peto, Julian, Silva, Isabel dos Santos, Johnson, Nichola, Swann, Ruth, Dwek, Miriam, Perkins, Katherine-Anne, Gillett, Cheryl, Houlston, Richard, Ross, Gillian, De Ieso, Paolo, Southey, Melissa C., Hopper, John L., Provenzano, Elena, Apicella, Carmel, Wesseling, Jelle, Cornelissen, Sten, Keeman, Renske, Fasching, Peter A., Jud, Sebastian M., Ekici, Arif B., Beckmann, Matthias W., Kerin, Michael J., Marme, Federick, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Guenel, Pascal, Truong, Therese, Laurent-Puig, Pierre, Kerbrat, Pierre, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Milne, Roger L., Perez, Jose Ignacio Arias, Menendez, Primitiva, Benitez, Javier, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita K., Lochmann, Magdalena, Brauch, Hiltrud, Fischer, Hans-Peter, Ko, Yon-Dschun, Nevanlinna, Heli, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia V., Dork, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Chenevix-Trench, Georgia, Lambrechts, Diether, Weltens, Caroline, Van Limbergen, Erik, Hatse, Sigrid, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Bonanni, Bernardo, Volorio, Sara, Giles, Graham G., Severi, Gianluca, Baglietto, Laura, Mclean, Catriona A., Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Kristensen, Vessela, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Devillee, Peter, Tollenaar, Rob A. E. M., Seynaeve, Caroline M., Kriege, Mieke, Figueroa, Jonine, Chanock, Stephen J., Sherman, Mark E., Hooning, Maartje J., Hollestelle, Antoinette, van den Ouweland, Ans M. W., van Deurzen, Carolien H. M., Li, Jingmei, Czene, Kamila, Humphreys, Keith, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Shah, Mitul, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Swerdlow, Anthony, Ashworth, Alan, Orr, Nicholas, Schoemaker, Minouk, Couch, Fergus J., Hallberg, Emily, Gonzalez-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, Dunning, Alison M., Hall, Per, Easton, Doug, Pharoah, Paul, Schmidt, Marjanka K., Tomlinson, Ian, Garcia-Closas, Montserrat, Sawyer, Elinor, Roylance, Rebecca, Petridis, Christos, Brook, Mark N., Nowinski, Salpie, Papouli, Efterpi, Fletcher, Olivia, Pinder, Sarah, Hanby, Andrew, Kohut, Kelly, Gorman, Patricia, Caneppele, Michele, Peto, Julian, Silva, Isabel dos Santos, Johnson, Nichola, Swann, Ruth, Dwek, Miriam, Perkins, Katherine-Anne, Gillett, Cheryl, Houlston, Richard, Ross, Gillian, De Ieso, Paolo, Southey, Melissa C., Hopper, John L., Provenzano, Elena, Apicella, Carmel, Wesseling, Jelle, Cornelissen, Sten, Keeman, Renske, Fasching, Peter A., Jud, Sebastian M., Ekici, Arif B., Beckmann, Matthias W., Kerin, Michael J., Marme, Federick, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Guenel, Pascal, Truong, Therese, Laurent-Puig, Pierre, Kerbrat, Pierre, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Milne, Roger L., Perez, Jose Ignacio Arias, Menendez, Primitiva, Benitez, Javier, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita K., Lochmann, Magdalena, Brauch, Hiltrud, Fischer, Hans-Peter, Ko, Yon-Dschun, Nevanlinna, Heli, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia V., Dork, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Chenevix-Trench, Georgia, Lambrechts, Diether, Weltens, Caroline, Van Limbergen, Erik, Hatse, Sigrid, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Bonanni, Bernardo, Volorio, Sara, Giles, Graham G., Severi, Gianluca, Baglietto, Laura, Mclean, Catriona A., Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Kristensen, Vessela, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Devillee, Peter, Tollenaar, Rob A. E. M., Seynaeve, Caroline M., Kriege, Mieke, Figueroa, Jonine, Chanock, Stephen J., Sherman, Mark E., Hooning, Maartje J., Hollestelle, Antoinette, van den Ouweland, Ans M. W., van Deurzen, Carolien H. M., Li, Jingmei, Czene, Kamila, Humphreys, Keith, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Shah, Mitul, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Swerdlow, Anthony, Ashworth, Alan, Orr, Nicholas, Schoemaker, Minouk, Couch, Fergus J., Hallberg, Emily, Gonzalez-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, Dunning, Alison M., Hall, Per, Easton, Doug, Pharoah, Paul, Schmidt, Marjanka K., Tomlinson, Ian, and Garcia-Closas, Montserrat
Abstract: Invasive lobular breast cancer (ILC) accounts for 10-15% of all invasive breast carcinomas. It is generally ER positive (ER+) and often associated with lobular carcinoma in situ (LCIS). Genome-wide association studies have identified more than 70 common polymorphisms that predispose to breast cancer, but these studies included predominantly ductal (IDC) carcinomas. To identify novel common polymorphisms that predispose to ILC and LCIS, we pooled data from 6,023 cases (5,622 ILC, 401 pure LCIS) and 34,271 controls from 36 studies genotyped using the iCOGS chip. Six novel SNPs most strongly associated with ILC/LCIS in the pooled analysis were genotyped in a further 516 lobular cases (482 ILC, 36 LCIS) and 1,467 controls. These analyses identified a lobular-specific SNP at 7q34 (rs11977670, OR (95% CI) for ILC = 1.13 (1.09-1.18), P = 6.0x10(-10); P-het for ILC vs IDC ER+ tumors = 1.8x10(-4)). Of the 75 known breast cancer polymorphisms that were genotyped, 56 were associated with ILC and 15 with LCIS at P<0.05. Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579/10q26/FGFR2, P-het = 0.04 and rs889312/5q11/MAP3K1, P-het = 0.03); and two showed stronger associations for LCIS than ILC (rs6678914/1q32/LGR6, P-het = 0.001 and rs1752911/6q14, P-het = 0.04). In addition, seven of the 75 known loci showed significant differences between ER+ tumors with IDC and ILC histology, three of these showing stronger associations for ILC (rs11249433/1p11, rs2981579/10q26/FGFR2 and rs10995190/10q21/ZNF365) and four associated only with IDC (5p12/rs10941679; rs2588809/14q24/RAD51L1, rs6472903/8q21 and rs1550623/2q31/CDCA7). In conclusion, we have identified one novel lobular breast cancer specific predisposition polymorphism at 7q34, and shown for the first time that common breast cancer polymorphisms predispose to LCIS. We have shown that many of the ER+ breast cancer predisposition loci also predispose to ILC, although there is some heterogeneity between ER+
Published: 2014

15. Body mass index and breast cancer survival: a Mendelian randomization analysis

Author: Guo, Qi, Burgess, Stephen, Turman, Constance, Bolla, Manjeet K, Wang, Qin, Lush, Michael, Abraham, Jean, Aittomäki, Kristiina, Andrulis, Irene L, Apicella, Carmel, Arndt, Volker, Barrdahl, Myrto, Benitez, Javier, Berg, Christine D, Blomqvist, Carl, Bojesen, Stig E, Bonanni, Bernardo, Brand, Judith S, Brenner, Hermann, Broeks, Annegien, Burwinkel, Barbara, Caldas, Carlos, Campa, Daniele, Canzian, Federico, Chang-Claude, Jenny, Chanock, Stephen J, Chin, Suet-Feung, Couch, Fergus J, Cox, Angela, Cross, Simon S, Cybulski, Cezary, Czene, Kamila, Darabi, Hatef, Devilee, Peter, Diver, W Ryan, Dunning, Alison M, Earl, Helena M, Eccles, Diana M, Ekici, Arif B, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Flyger, Henrik, Gapstur, Susan M, Gaudet, Mia M, Giles, Graham G, Glendon, Gord, Grip, Mervi, Gronwald, Jacek, Haeberle, Lothar, Haiman, Christopher A, Hall, Per, Hamann, Ute, Hankinson, Susan, Hartikainen, Jaana M, Hein, Alexander, Hiller, Louise, Hogervorst, Frans B, Holleczek, Bernd, Hooning, Maartje J, Hoover, Robert N, Humphreys, Keith, Hunter, David J, Hüsing, Anika, Jakubowska, Anna, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kataja, Vesa, Knight, Julia A, Koppert, Linetta B, Kosma, Veli-Matti, Kristensen, Vessela N, Lambrechts, Diether, Le Marchand, Loic, Li, Jingmei, Lindblom, Annika, Lindström, Sara, Lissowska, Jolanta, Lubinski, Jan, Machiela, Mitchell J, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Federik, Martens, John WM, McLean, Catriona, Menéndez, Primitiva, Milne, Roger L, Marie Mulligan, Anna, Muranen, Taru A, Nevanlinna, Heli, Neven, Patrick, Nielsen, Sune F, Nordestgaard, Børge G, Olson, Janet E, Perez, Jose IA, Peterlongo, Paolo, Phillips, Kelly-Anne, Poole, Christopher J, Pylkäs, Katri, Radice, Paolo, Rahman, Nazneen, Rüdiger, Thomas, Rudolph, Anja, Sawyer, Elinor J, Schumacher, Fredrick, Seibold, Petra, Seynaeve, Caroline, Shah, Mitul, Smeets, Ann, Southey, Melissa C, Tollenaar, Rob A E M, Tomlinson, Ian, Tsimiklis, Helen, Ulmer, Hans-Ulrich, Vachon, Celine, van den Ouweland, Ans MW, Van’t Veer, Laura J, Wildiers, Hans, Willett, Walter, Winqvist, Robert, Zamora, M Pilar, Chenevix-Trench, Georgia, Dörk, Thilo, Easton, Douglas F, García-Closas, Montserrat, Kraft, Peter, Hopper, John L, Zheng, Wei, Schmidt, Marjanka K, and Pharoah, Paul DP
Subjects: Body mass index, breast cancer survival, Mendelian randomization, epidemiology, genetics
Abstract: Background: There is increasing evidence that elevated body mass index (BMI) is associated with reduced survival for women with breast cancer. However, the underlying reasons remain unclear. We conducted a Mendelian randomization analysis to investigate a possible causal role of BMI in survival from breast cancer. Methods: We used individual-level data from six large breast cancer case-cohorts including a total of 36 210 individuals (2475 events) of European ancestry. We created a BMI genetic risk score (GRS) based on genotypes at 94 known BMI-associated genetic variants. Association between the BMI genetic score and breast cancer survival was analysed by Cox regression for each study separately. Study-specific hazard ratios were pooled using fixed-effect meta-analysis. Results: BMI genetic score was found to be associated with reduced breast cancer-specific survival for estrogen receptor (ER)-positive cases [hazard ratio (HR) = 1.11, per one-unit increment of GRS, 95% confidence interval (CI) 1.01–1.22, P = 0.03). We observed no association for ER-negative cases (HR = 1.00, per one-unit increment of GRS, 95% CI 0.89–1.13, P = 0.95). Conclusions: Our findings suggest a causal effect of increased BMI on reduced breast cancer survival for ER-positive breast cancer. There is no evidence of a causal effect of higher BMI on survival for ER-negative breast cancer cases.
Published: 2017
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16. Fine Needle Aspiration of Sclerosing Lymphocytic Lobulitis of the Breast

Author: Miralles, Teresa G., primary, Gosalbez, Francisco, additional, Menendez, Primitiva, additional, Manjon, Jose-Antonio, additional, and Sampedro, Andres, additional
Published: 1998
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17. PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

Author: Southey, Melissa C, Goldgar, David E, Winqvist, Robert, Pylkäs, Katri, Couch, Fergus, Tischkowitz, Marc, Foulkes, William D, Dennis, Joe, Michailidou, Kyriaki, van Rensburg, Elizabeth J, Heikkinen, Tuomas, Nevanlinna, Heli, Hopper, John L, Dörk, Thilo, Claes, Kathleen BM, Reis-Filho, Jorge, Teo, Zhi Ling, Radice, Paolo, Catucci, Irene, Peterlongo, Paolo, Tsimiklis, Helen, Odefrey, Fabrice A, Dowty, James G, Schmidt, Marjanka K, Broeks, Annegien, Hogervorst, Frans B, Verhoef, Senno, Carpenter, Jane, Clarke, Christine, Scott, Rodney J, Fasching, Peter A, Haeberle, Lothar, Ekici, Arif B, Beckmann, Matthias W, Peto, Julian, dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Bolla, Manjeet K, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, Marme, Federik, Burwinkel, Barbara, Yang, Rongxi, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Sanchez, Marie, Bojesen, Stig, Nielsen, Sune F, Flyger, Henrik, Benitez, Javier, Zamora, M Pilar, Arias Perez, Jose Ignacio, Menéndez, Primitiva, Anton-Culver, Hoda, Neuhausen, Susan, Ziogas, Argyrios, Clarke, Christina A, Brenner, Hermann, Arndt, Volker, Stegmaier, Christa, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Muranen, Taru A, Aittomäki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia V, Antonenkova, Natalia N, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M, Spurdle, Amanda B, Wauters, Els, Smeets, Dominiek, Beuselinck, Benoit, Floris, Giuseppe, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Olson, Janet E, Vachon, Celine, Pankratz, Vernon S, McLean, Catriona, Haiman, Christopher A, Henderson, Brian E, Schumacher, Fredrick, Le Marchand, Loic, Kristensen, Vessela, Alnæs, Grethe Grenaker, Zheng, Wei, Hunter, David J, Lindstrom, Sara, Hankinson, Susan E, Kraft, Peter, Andrulis, Irene, Knight, Julia A, Glendon, Gord, Mulligan, Anna Marie, Jukkola-Vuorinen, Arja, Grip, Mervi, Kauppila, Saila, Devilee, Peter, Tollenaar, Robert A E M, Seynaeve, Caroline, Hollestelle, Antoinette, Garcia-Closas, Montserrat, Figueroa, Jonine, Chanock, Stephen J, Lissowska, Jolanta, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Eccles, Diana M, Rafiq, Sajjad, Tapper, William J, Gerty, Sue M, Hooning, Maartje J, Martens, John W M, Collée, J Margriet, Tilanus-Linthorst, Madeleine, Hall, Per, Li, Jingmei, Brand, Judith S, Humphreys, Keith, Cox, Angela, Reed, Malcolm W R, Luccarini, Craig, Baynes, Caroline, Dunning, Alison M, Hamann, Ute, Torres, Diana, Ulmer, Hans Ulrich, Rüdiger, Thomas, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Slager, Susan, Toland, Amanda E, Ambrosone, Christine B, Yannoukakos, Drakoulis, Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Jones, Michael, González-Neira, Anna, Pita, Guillermo, Alonso, M Rosario, Álvarez, Nuria, Herrero, Daniel, Tessier, Daniel C, Vincent, Daniel, Bacot, Francois, Simard, Jacques, Dumont, Martine, Soucy, Penny, Eeles, Rosalind, Muir, Kenneth, Wiklund, Fredrik, Gronberg, Henrik, Schleutker, Johanna, Nordestgaard, Børge G, Weischer, Maren, Travis, Ruth C, Neal, David, Donovan, Jenny L, Hamdy, Freddie C, Khaw, Kay-Tee, Stanford, Janet L, Blot, William J, Thibodeau, Stephen, Schaid, Daniel J, Kelley, Joseph L, Maier, Christiane, Kibel, Adam S, Cybulski, Cezary, Cannon-Albright, Lisa, Butterbach, Katja, Park, Jong, Kaneva, Radka, Batra, Jyotsna, Teixeira, Manuel R, Kote-Jarai, Zsofia, Al Olama, Ali Amin, Benlloch, Sara, Renner, Stefan P, Hartmann, Arndt, Hein, Alexander, Ruebner, Matthias, Lambrechts, Diether, Van Nieuwenhuysen, Els, Vergote, Ignace, Lambretchs, Sandrina, Doherty, Jennifer A, Rossing, Mary Anne, Nickels, Stefan, Eilber, Ursula, Wang-Gohrke, Shan, Odunsi, Kunle, Sucheston-Campbell, Lara E, Friel, Grace, Lurie, Galina, Killeen, Jeffrey L, Wilkens, Lynne R, Goodman, Marc T, Runnebaum, Ingo, Hillemanns, Peter A, Pelttari, Liisa M, Butzow, Ralf, Modugno, Francesmary, Edwards, Robert P, Ness, Roberta B, Moysich, Kirsten B, du Bois, Andreas, Heitz, Florian, Harter, Philipp, Kommoss, Stefan, Karlan, Beth Y, Walsh, Christine, Lester, Jenny, Jensen, Allan, Kjaer, Susanne Krüger, Høgdall, Estrid, Peissel, Bernard, Bonanni, Bernardo, Bernard, Loris, Goode, Ellen L, Fridley, Brooke L, Vierkant, Robert A, Cunningham, Julie M, Larson, Melissa C, Fogarty, Zachary C, Kalli, Kimberly R, Liang, Dong, Lu, Karen H, Hildebrandt, Michelle A T, Wu, Xifeng, Levine, Douglas A, Dao, Fanny, Bisogna, Maria, Berchuck, Andrew, Iversen, Edwin S, Marks, Jeffrey R, Akushevich, Lucy, Cramer, Daniel W, Schildkraut, Joellen, Terry, Kathryn L, Poole, Elizabeth M, Stampfer, Meir, Tworoger, Shelley S, Bandera, Elisa V, Orlow, Irene, Olson, Sara H, Bjorge, Line, Salvesen, Helga B, van Altena, Anne M, Aben, Katja K H, Kiemeney, Lambertus A, Massuger, Leon F A G, Pejovic, Tanja, Bean, Yukie, Brooks-Wilson, Angela, Kelemen, Linda E, Cook, Linda S, Le, Nhu D, Górski, Bohdan, Gronwald, Jacek, Menkiszak, Janusz, Høgdall, Claus K, Lundvall, Lene, Nedergaard, Lotte, Engelholm, Svend Aage, Dicks, Ed, Tyrer, Jonathan, Campbell, Ian, McNeish, Iain, Paul, James, Siddiqui, Nadeem, Glasspool, Rosalind, Whittemore, Alice S, Rothstein, Joseph H, McGuire, Valerie, Sieh, Weiva, Cai, Hui, Shu, Xiao-Ou, Teten, Rachel T, Sutphen, Rebecca, McLaughlin, John R, Narod, Steven A, Phelan, Catherine M, Monteiro, Alvaro N, Fenstermacher, David, Lin, Hui-Yi, Permuth, Jennifer B, Sellers, Thomas A, Chen, Y Ann, Tsai, Ya-Yu, Chen, Zhihua, Gentry-Maharaj, Aleksandra, Gayther, Simon A, Ramus, Susan J, Menon, Usha, Wu, Anna H, Pearce, Celeste L, Van Den Berg, David, Pike, Malcolm C, Dansonka-Mieszkowska, Agnieszka, Plisiecka-Halasa, Joanna, Moes-Sosnowska, Joanna, Kupryjanczyk, Jolanta, Pharoah, Paul DP, Song, Honglin, Winship, Ingrid, Chenevix-Trench, Georgia, Giles, Graham G, Tavtigian, Sean V, Easton, Doug F, and Milne, Roger L
Abstract: Background: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. Methods: We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant. Results: For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10−5), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10−8) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants. Conclusions: This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.
Published: 2016
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18. Common germline polymorphisms associated with breast cancer-specific survival

Author: Pirie, Ailith, Guo, Qi, Kraft, Peter, Canisius, Sander, Eccles, Diana M, Rahman, Nazneen, Nevanlinna, Heli, Chen, Constance, Khan, Sofia, Tyrer, Jonathan, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, Lush, Michael, Dunning, Alison M, Shah, Mitul, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Lambrechts, Dieter, Weltens, Caroline, Leunen, Karin, van Ongeval, Chantal, Nordestgaard, Børge G, Nielsen, Sune F, Flyger, Henrik, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Blomqvist, Carl, Aittomäki, Kristiina, Fagerholm, Rainer, Muranen, Taru A, Olsen, Janet E, Hallberg, Emily, Vachon, Celine, Knight, Julia A, Glendon, Gord, Mulligan, Anna Marie, Broeks, Annegien, Cornelissen, Sten, Haiman, Christopher A, Henderson, Brian E, Schumacher, Frederick, Le Marchand, Loic, Hopper, John L, Tsimiklis, Helen, Apicella, Carmel, Southey, Melissa C, Cross, Simon S, Reed, Malcolm WR, Giles, Graham G, Milne, Roger L, McLean, Catriona, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Hooning, Maartje J, Hollestelle, Antoinette, Martens, John WM, van den Ouweland, Ans MW, Marme, Federick, Schneeweiss, Andreas, Yang, Rongxi, Burwinkel, Barbara, Figueroa, Jonine, Chanock, Stephen J, Lissowska, Jolanta, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, Brenner, Hermann, Butterbach, Katja, Holleczek, Bernd, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M, Li, Jingmei, Brand, Judith S, Humphreys, Keith, Devilee, Peter, Tollenaar, Robert AEM, Seynaeve, Caroline, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Ficarazzi, Filomena, Beckmann, Matthias W, Hein, Alexander, Ekici, Arif B, Balleine, Rosemary, Phillips, Kelly-Anne, Benitez, Javier, Zamora, M Pilar, Perez, Jose Ignacio Arias, Menéndez, Primitiva, Jakubowska, Anna, Lubinski, Jan, Gronwald, Jacek, Durda, Katarzyna, Hamann, Ute, Kabisch, Maria, Ulmer, Hans Ulrich, Rüdiger, Thomas, Margolin, Sara, Kristensen, Vessela, Nord, Siljie, Evans, D Gareth, Abraham, Jean, Earl, Helena, Poole, Christopher J, Hiller, Louise, Dunn, Janet A, Bowden, Sarah, Yang, Rose, Campa, Daniele, Diver, W Ryan, Gapstur, Susan M, Gaudet, Mia M, Hankinson, Susan, Hoover, Robert N, Hüsing, Anika, Kaaks, Rudolf, Machiela, Mitchell J, Willett, Walter, Barrdahl, Myrto, Canzian, Federico, Chin, Suet-Feung, Caldas, Carlos, Hunter, David J, Lindstrom, Sara, Garcia-Closas, Montserrat, Couch, Fergus J, Chenevix-Trench, Georgia, Mannermaa, Arto, Andrulis, Irene L, Hall, Per, Chang-Claude, Jenny, Easton, Douglas F, Bojesen, Stig E, Cox, Angela, Fasching, Peter A, Pharoah, Paul DP, and Schmidt, Marjanka K
Abstract: Introduction: Previous studies have identified common germline variants nominally associated with breast cancer survival. These associations have not been widely replicated in further studies. The purpose of this study was to evaluate the association of previously reported SNPs with breast cancer-specific survival using data from a pooled analysis of eight breast cancer survival genome-wide association studies (GWAS) from the Breast Cancer Association Consortium. Methods: A literature review was conducted of all previously published associations between common germline variants and three survival outcomes: breast cancer-specific survival, overall survival and disease-free survival. All associations that reached the nominal significance level of P value <0.05 were included. Single nucleotide polymorphisms that had been previously reported as nominally associated with at least one survival outcome were evaluated in the pooled analysis of over 37,000 breast cancer cases for association with breast cancer-specific survival. Previous associations were evaluated using a one-sided test based on the reported direction of effect. Results: Fifty-six variants from 45 previous publications were evaluated in the meta-analysis. Fifty-four of these were evaluated in the full set of 37,954 breast cancer cases with 2,900 events and the two additional variants were evaluated in a reduced sample size of 30,000 samples in order to ensure independence from the previously published studies. Five variants reached nominal significance (P <0.05) in the pooled GWAS data compared to 2.8 expected under the null hypothesis. Seven additional variants were associated (P <0.05) with ER-positive disease. Conclusions: Although no variants reached genome-wide significance (P <5 x 10−8), these results suggest that there is some evidence of association between candidate common germline variants and breast cancer prognosis. Larger studies from multinational collaborations are necessary to increase the power to detect associations, between common variants and prognosis, at more stringent significance levels. Electronic supplementary material The online version of this article (doi:10.1186/s13058-015-0570-7) contains supplementary material, which is available to authorized users.
Published: 2015
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19. Identification of Novel Genetic Markers of Breast Cancer Survival

Author: Guo, Qi, Schmidt, Marjanka K., Kraft, Peter, Canisius, Sander, Chen, Constance, Khan, Sofia, Tyrer, Jonathan, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, Lush, Michael, Kar, Siddhartha, Beesley, Jonathan, Dunning, Alison M., Shah, Mitul, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Lambrechts, Diether, Weltens, Caroline, Leunen, Karin, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Blomqvist, Carl, Aittomäki, Kristiina, Fagerholm, Rainer, Muranen, Taru A., Couch, Fergus J., Olson, Janet E., Vachon, Celine, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Broeks, Annegien, Hogervorst, Frans B., Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Hopper, John L., Tsimiklis, Helen, Apicella, Carmel, Southey, Melissa C., Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Giles, Graham G., Milne, Roger L., McLean, Catriona, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Hooning, Maartje J., Hollestelle, Antoinette, Martens, John W. M., van den Ouweland, Ans M. W., Marme, Federik, Schneeweiss, Andreas, Yang, Rongxi, Burwinkel, Barbara, Figueroa, Jonine, Chanock, Stephen J., Lissowska, Jolanta, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Holleczek, Bernd, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Li, Jingmei, Brand, Judith S., Humphreys, Keith, Devilee, Peter, Tollenaar, Rob A. E. M., Seynaeve, Caroline, Radice, Paolo, Peterlongo, Paolo, Bonanni, Bernardo, Mariani, Paolo, Fasching, Peter A., Beckmann, Matthias W., Hein, Alexander, Ekici, Arif B., Chenevix-Trench, Georgia, Balleine, Rosemary, Phillips, Kelly-Anne, Benitez, Javier, Zamora, M. Pilar, Arias Perez, Jose Ignacio, Menéndez, Primitiva, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Hamann, Ute, Kabisch, Maria, Ulmer, Hans Ulrich, Rüdiger, Thomas, Margolin, Sara, Kristensen, Vessela, Nord, Silje, Evans, D. Gareth, Abraham, Jean E., Earl, Helena M., Hiller, Louise, Dunn, Janet A., Bowden, Sarah, Berg, Christine, Campa, Daniele, Diver, W. Ryan, Gapstur, Susan M., Gaudet, Mia M., Hankinson, Susan E., Hoover, Robert N., Hüsing, Anika, Kaaks, Rudolf, Machiela, Mitchell J., Willett, Walter, Barrdahl, Myrto, Canzian, Federico, Chin, Suet-Feung, Caldas, Carlos, Hunter, David J., Lindstrom, Sara, García-Closas, Montserrat, Hall, Per, Easton, Douglas F., Eccles, Diana M., Rahman, Nazneen, Nevanlinna, Heli, and Pharoah, Paul D. P.
Abstract: Background: Survival after a diagnosis of breast cancer varies considerably between patients, and some of this variation may be because of germline genetic variation. We aimed to identify genetic markers associated with breast cancer–specific survival. Methods: We conducted a large meta-analysis of studies in populations of European ancestry, including 37954 patients with 2900 deaths from breast cancer. Each study had been genotyped for between 200000 and 900000 single nucleotide polymorphisms (SNPs) across the genome; genotypes for nine million common variants were imputed using a common reference panel from the 1000 Genomes Project. We also carried out subtype-specific analyses based on 6881 estrogen receptor (ER)–negative patients (920 events) and 23059 ER-positive patients (1333 events). All statistical tests were two-sided. Results: We identified one new locus (rs2059614 at 11q24.2) associated with survival in ER-negative breast cancer cases (hazard ratio [HR] = 1.95, 95% confidence interval [CI] = 1.55 to 2.47, P = 1.91 x 10–8). Genotyping a subset of 2113 case patients, of which 300 were ER negative, provided supporting evidence for the quality of the imputation. The association in this set of case patients was stronger for the observed genotypes than for the imputed genotypes. A second locus (rs148760487 at 2q24.2) was associated at genome-wide statistical significance in initial analyses; the association was similar in ER-positive and ER-negative case patients. Here the results of genotyping suggested that the finding was less robust. Conclusions: This is currently the largest study investigating genetic variation associated with breast cancer survival. Our results have potential clinical implications, as they confirm that germline genotype can provide prognostic information in addition to standard tumor prognostic factors.
Published: 2015
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20. Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium

Author: Lei, Jieping, Rudolph, Anja, Moysich, Kirsten B., Behrens, Sabine, Goode, Ellen L., Bolla, Manjeet K., Dennis, Joe, Dunning, Alison M., Easton, Douglas F., Wang, Qin, Benitez, Javier, Hopper, John L., Southey, Melissa C., Schmidt, Marjanka K., Broeks, Annegien, Fasching, Peter A., Haeberle, Lothar, Peto, Julian, dos-Santos-Silva, Isabel, Sawyer, Elinor J., Tomlinson, Ian, Burwinkel, Barbara, Marme, Frederik, Guenel, Pascal, Truong, Therese, Bojesen, Stig E., Flyger, Henrik, Nielsen, Sune F., Nordestgaard, Borge G., Gonzalez-Neira, Anna, Menendez, Primitiva, Anton-Culver, Hoda, Neuhausen, Susan L., Brenner, Hermann, Arndt, Volker, Meindl, Alfons, Schmutzler, Rita K., Brauch, Hiltrud, Hamann, Ute, Nevanlinna, Heli, Fagerholm, Rainer, Doerk, Thilo, Bogdanova, Natalia V., Mannermaa, Arto, Hartikainen, Jaana M., Van Dijck, Laurien, Smeets, Ann, Flesch-Janys, Dieter, Eilber, Ursula, Radice, Paolo, Peterlongo, Paolo, Couch, Fergus J., Hallberg, Emily, Giles, Graham G., Milne, Roger L., Haiman, Christopher A., Schumacher, Fredrick, Simard, Jacques, Goldberg, Mark S., Kristensen, Vessela, Borresen-Dale, Anne-Lise, Zheng, Wei, Beeghly-Fadiel, Alicia, Winqvist, Robert, Grip, Mervi, Andrulis, Irene L., Glendon, Gord, Garcia-Closas, Montserrat, Figueroa, Jonine, Czene, Kamila, Brand, Judith S., Darabi, Hatef, Eriksson, Mikael, Hall, Per, Li, Jingmei, Cox, Angela, Cross, Simon S., Pharoah, Paul D. P., Shah, Mitul, Kabisch, Maria, Torres, Diana, Jakubowska, Anna, Lubinski, Jan, Ademuyiwa, Foluso, Ambrosone, Christine B., Swerdlow, Anthony, Jones, Michael, Chang-Claude, Jenny, Department of Obstetrics and Gynecology, and Clinicum
Subjects: 3122 Cancers, LOCI, Breast Neoplasms, MULTIPLE-SCLEROSIS, Polymorphism, Single Nucleotide, CROHNS-DISEASE, STAT3, Case-Control Studies, ANTITUMOR IMMUNITY, Immune Tolerance, Genetics, SUPPRESSOR-CELLS, Humans, JAPANESE POPULATION, Female, Genetic Predisposition to Disease, Genetics(clinical), REGULATORY T-CELLS, 3111 Biomedicine, GENOME-WIDE ASSOCIATION, TUMOR MICROENVIRONMENT, Original Investigation
Abstract: Immunosuppression plays a pivotal role in assisting tumors to evade immune destruction and promoting tumor development. We hypothesized that genetic variation in the immunosuppression pathway genes may be implicated in breast cancer tumorigenesis. We included 42,510 female breast cancer cases and 40,577 controls of European ancestry from 37 studies in the Breast Cancer Association Consortium (2015) with available genotype data for 3595 single nucleotide polymorphisms (SNPs) in 133 candidate genes. Associations between genotyped SNPs and overall breast cancer risk, and secondarily according to estrogen receptor (ER) status, were assessed using multiple logistic regression models. Gene-level associations were assessed based on principal component analysis. Gene expression analyses were conducted using RNA sequencing level 3 data from The Cancer Genome Atlas for 989 breast tumor samples and 113 matched normal tissue samples. SNP rs1905339 (A>G) in the STAT3 region was associated with an increased breast cancer risk (per allele odds ratio 1.05, 95 % confidence interval 1.03–1.08; p value = 1.4 × 10−6). The association did not differ significantly by ER status. On the gene level, in addition to TGFBR2 and CCND1, IL5 and GM-CSF showed the strongest associations with overall breast cancer risk (p value = 1.0 × 10−3 and 7.0 × 10−3, respectively). Furthermore, STAT3 and IL5 but not GM-CSF were differentially expressed between breast tumor tissue and normal tissue (p value = 2.5 × 10−3, 4.5 × 10−4 and 0.63, respectively). Our data provide evidence that the immunosuppression pathway genes STAT3,IL5, and GM-CSF may be novel susceptibility loci for breast cancer in women of European ancestry. Electronic supplementary material The online version of this article (doi:10.1007/s00439-015-1616-8) contains supplementary material, which is available to authorized users.
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21. Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade

Author: Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Torres, Diana, Purrington, Kristen S., Slettedahl, Seth, Bolla, Manjeet K., Michailidou, Kyriaki, Czene, Kamila, Nevanlinna, Heli, Bojesen, Stig E., Andrulis, Irene L., Cox, Angela, Hall, Per, Carpenter, Jane, Yannoukakos, Drakoulis, Haiman, Christopher A., Fasching, Peter A., Mannermaa, Arto, Winqvist, Robert, Brenner, Hermann, Lindblom, Annika, Chenevix-Trench, Georgia, Benitez, Javier, Swerdlow, Anthony, Kristensen, Vessela, Guenel, Pascal, Meindl, Alfons, Darabi, Hatef, Eriksson, Mikael, Fagerholm, Rainer, Aittomaki, Kristiina, Blomqvist, Carl, Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Wang, Xianshu, Olswold, Curtis, Olson, Janet E., Mulligan, Anna Marie, Knight, Julia A., Tchatchou, Sandrine, Reed, Malcolm W. R., Cross, Simon S., Liu, Jianjun, Li, Jingmei, Humphreys, Keith, Clarke, Christine, Scott, Rodney, Fostira, Florentia, Fountzilas, George, Konstantopoulou, Irene, Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Ekici, Arif B., Hartmann, Arndt, Beckmann, Matthias W., Hartikainen, Jaana M., Kosma, Veli-Matti, Kataja, Vesa, Jukkola-Vuorinen, Arja, Pylkas, Katri, Kauppila, Saila, Dieffenbach, Aida Karina, Stegmaier, Christa, Arndt, Volker, Margolin, Sara, Balleine, Rosemary, Arias Perez, Jose Ignacio, Pilar Zamora, M., Menendez, Primitiva, Ashworth, Alan, Jones, Michael, Orr, Nick, Arveux, Patrick, Kerbrat, Pierre, Therese Truong, Bugert, Peter, Toland, Amanda E., Ambrosone, Christine B., Labreche, France, Goldberg, Mark S., Dumont, Martine, Ziogas, Argyrios, Lee, Eunjung, Dite, Gillian S., Apicella, Carmel, Southey, Melissa C., Long, Jirong, Shrubsole, Martha, Deming-Halverson, Sandra, Ficarazzi, Filomena, Barile, Monica, Peterlongo, Paolo, Durda, Katarzyna, Jaworska Bieniek, Katarzyna, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Ko, Yon Dschun, Van Deurzen, Carolien H. M., Martens, John W. M., Kriege, Mieke, Figueroa, Jonine D., Chanock, Stephen J., Lissowska, Jolanta, Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Schneeweiss, Andreas, Tapper, William J., Gerty, Susan M., Durcan, Lorraine, Mclean, Catriona, Milne, Roger L., Baglietto, Laura, Silva, Isabel dos Santos, Fletcher, Olivia, Johnson, Nichola, Van'T Veer, Laura J., Cornelissen, Sten, Rudolph, Anja, Flesch-Janys, Dieter, Nickels, Stefan, Weltens, Caroline, Floris, Giuseppe, Moisse, Matthieu, Dennis, Joe, Wang, Qin, Dunning, Alison M., Shah, Mitul, Brown, Judith, Simard, Jacques, Anton-Culver, Hoda, Neuhausen, Susan L., Hopper, John L., Bogdanova, Natalia, Doerk, Thilo, Zheng, Wei, Radice, Paolo, Jakubowska, Anna, Lubinski, Jan, Devillee, Peter, Brauch, Hiltrud, Hooning, Maartje, Garcia Closas, Montserrat, Sawyer, Elinor, Burwinkel, Barbara, Marmee, Frederick, Eccles, Diana M., Giles, Graham G., Peto, Julian, Schmidt, Marjanka, Broeks, Annegien, Hamann, Ute, Lambrechts, Diether, Chang Claude, Jenny, Pharoah, Paul D. P., Easton, Douglas, Pankratz, V. Shane, Slager, Susan, Vachon, Celine M., Couch, Fergus J., Försti, Asta, ABCTB Investigators, Australian Ovarian Cancer Study Group, kConFab Investigators, The GENICA Network, Brüning, Thomas, Rüdiger, Thomas, Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Torres, Diana, Purrington, Kristen S., Slettedahl, Seth, Bolla, Manjeet K., Michailidou, Kyriaki, Czene, Kamila, Nevanlinna, Heli, Bojesen, Stig E., Andrulis, Irene L., Cox, Angela, Hall, Per, Carpenter, Jane, Yannoukakos, Drakoulis, Haiman, Christopher A., Fasching, Peter A., Mannermaa, Arto, Winqvist, Robert, Brenner, Hermann, Lindblom, Annika, Chenevix-Trench, Georgia, Benitez, Javier, Swerdlow, Anthony, Kristensen, Vessela, Guenel, Pascal, Meindl, Alfons, Darabi, Hatef, Eriksson, Mikael, Fagerholm, Rainer, Aittomaki, Kristiina, Blomqvist, Carl, Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Wang, Xianshu, Olswold, Curtis, Olson, Janet E., Mulligan, Anna Marie, Knight, Julia A., Tchatchou, Sandrine, Reed, Malcolm W. R., Cross, Simon S., Liu, Jianjun, Li, Jingmei, Humphreys, Keith, Clarke, Christine, Scott, Rodney, Fostira, Florentia, Fountzilas, George, Konstantopoulou, Irene, Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Ekici, Arif B., Hartmann, Arndt, Beckmann, Matthias W., Hartikainen, Jaana M., Kosma, Veli-Matti, Kataja, Vesa, Jukkola-Vuorinen, Arja, Pylkas, Katri, Kauppila, Saila, Dieffenbach, Aida Karina, Stegmaier, Christa, Arndt, Volker, Margolin, Sara, Balleine, Rosemary, Arias Perez, Jose Ignacio, Pilar Zamora, M., Menendez, Primitiva, Ashworth, Alan, Jones, Michael, Orr, Nick, Arveux, Patrick, Kerbrat, Pierre, Therese Truong, Bugert, Peter, Toland, Amanda E., Ambrosone, Christine B., Labreche, France, Goldberg, Mark S., Dumont, Martine, Ziogas, Argyrios, Lee, Eunjung, Dite, Gillian S., Apicella, Carmel, Southey, Melissa C., Long, Jirong, Shrubsole, Martha, Deming-Halverson, Sandra, Ficarazzi, Filomena, Barile, Monica, Peterlongo, Paolo, Durda, Katarzyna, Jaworska Bieniek, Katarzyna, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Ko, Yon Dschun, Van Deurzen, Carolien H. M., Martens, John W. M., Kriege, Mieke, Figueroa, Jonine D., Chanock, Stephen J., Lissowska, Jolanta, Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Schneeweiss, Andreas, Tapper, William J., Gerty, Susan M., Durcan, Lorraine, Mclean, Catriona, Milne, Roger L., Baglietto, Laura, Silva, Isabel dos Santos, Fletcher, Olivia, Johnson, Nichola, Van'T Veer, Laura J., Cornelissen, Sten, Rudolph, Anja, Flesch-Janys, Dieter, Nickels, Stefan, Weltens, Caroline, Floris, Giuseppe, Moisse, Matthieu, Dennis, Joe, Wang, Qin, Dunning, Alison M., Shah, Mitul, Brown, Judith, Simard, Jacques, Anton-Culver, Hoda, Neuhausen, Susan L., Hopper, John L., Bogdanova, Natalia, Doerk, Thilo, Zheng, Wei, Radice, Paolo, Jakubowska, Anna, Lubinski, Jan, Devillee, Peter, Brauch, Hiltrud, Hooning, Maartje, Garcia Closas, Montserrat, Sawyer, Elinor, Burwinkel, Barbara, Marmee, Frederick, Eccles, Diana M., Giles, Graham G., Peto, Julian, Schmidt, Marjanka, Broeks, Annegien, Hamann, Ute, Lambrechts, Diether, Chang Claude, Jenny, Pharoah, Paul D. P., Easton, Douglas, Pankratz, V. Shane, Slager, Susan, Vachon, Celine M., Couch, Fergus J., Försti, Asta, ABCTB Investigators, Australian Ovarian Cancer Study Group, kConFab Investigators, The GENICA Network, Brüning, Thomas, and Rüdiger, Thomas

22. PALB2, CHEK2 and ATM rare variants and cancer risk : data from COGS

Author: Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Southey, Melissa C., Goldgar, David E., Winqvist, Robert, Pylkas, Katri, Couch, Fergus, Tischkowitz, Marc, Foulkes, William D., Dennis, Joe, Michailidou, Kyriaki, van Rensburg, Elizabeth J., Heikkinen, Tuomas, Nevanlinna, Heli, Hopper, John L., Doerk, Thilo, Claes, Kathleen B. M., Reis Filho, Jorge, Teo, Zhi Ling, Radice, Paolo, Catucci, Irene, Peterlongo, Paolo, Tsimiklis, Helen, Odefrey, Fabrice A., Dowty, James G., Schmidt, Marjanka K., Broeks, Annegien, Hogervorst, Frans B., Verhoef, Senno, Carpenter, Jane, Clarke, Christine, Scott, Rodney J., Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, dos Santos Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Bolla, Manjeet K., Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Marme, Federik, Burwinkel, Barbara, Yang, Rongxi, Guenel, Pascal, Therese Truong, Sanchez, Marie, Bojesen, Stig, Nielsen, Sune F., Flyger, Henrik, Benitez, Javier, Pilar Zamora, M., Arias Perez, Jose Ignacio, Menendez, Primitiva, Anton Culver, Hoda, Neuhausen, Susan, Ziogas, Argyrios, Clarke, Christina A., Brenner, Hermann, Arndt, Volker, Stegmaier, Christa, Brauch, Hiltrud, Bruening, Thomas, Ko, Yon Dschun, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia V., Antonenkova, Natalia N., Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli Matti, Hartikainen, Jaana M., Spurdle, Amanda B., Wauters, Els, Smeets, Dominiek, Beuselinck, Benoit, Floris, Giuseppe, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch Janys, Dieter, Olson, Janet E., Vachon, Celine, Pankratz, Vernon S., McLean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Kristensen, Vessela, Alnaes, Grethe Grenaker, Zheng, Wei, Hunter, David J., Lindstrom, Sara, Hankinson, Susan E., Kraft, Peter, Andrulis, Irene, Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Jukkola Vuorinen, Arja, Grip, Mervi, Kauppila, Saila, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Hollestelle, Antoinette, Garcia Closas, Montserrat, Figueroa, Jonine, Chanock, Stephen J., Lissowska, Jolanta, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Eccles, Diana M., Rafiq, Sajjad, Tapper, William J., Gerty, Sue M., Hooning, Maartje J., Martens, John W. M., Collee, J. Margriet, Tilanus-Linthorst, Madeleine, Hall, Per, Li, Jingmei, Brand, Judith S., Humphreys, Keith, Cox, Angela, Reed, Malcolm W. R., Luccarini, Craig, Baynes, Caroline, Dunning, Alison M., Hamann, Ute, Torres López, Diana María, Ulmer, Hans Ulrich, Ruediger, Thomas, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Slager, Susan, Toland, Amanda E., Ambrosone, Christine B., Yannoukakos, Drakoulis, Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Jones, Michael, Gonzalez Neira, Anna, Pita, Guillermo, Rosario Alonso, M., Alvarez, Nuria, Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Simard, Jacques, Dumont, Martine, Soucy, Penny, Eeles, Rosalind, Muir, Kenneth, Wiklund, Fredrik, Gronberg, Henrik, Schleutker, Johanna, Nordestgaard, Borge G., Weischer, Maren, Travis, Ruth C., Neal, David, Donovan, Jenny L., Hamdy, Freddie C., Khaw, Kay Tee, Stanford, Janet L., Blot, William J., Thibodeau, Stephen, Schaid, Daniel J., Kelley, Joseph L., Maier, Christiane, Kibel, Adam S., Cybulski, Cezary, Cannon Albright, Lisa, Butterbach, Katja, Park, Jong, Kaneva, Radka, Batra, Jyotsna, Teixeira, Manuel R., Kote-Jarai, Zsofia, Al Olama, Ali Amin, Benlloch, Sara, Renner, Stefan P., Hartmann, Arndt, Hein, Alexander, Ruebner, Matthias, Lambrechts, Diether, Van Nieuwenhuysen, Els, Vergote, Ignace, Lambretchs, Sandrina, Doherty, Jennifer A., Rossing, Mary Anne, Nickels, Stefan, Eilber, Ursula, Wang Gohrke, Shan, Odunsi, Kunle, Sucheston Campbell, Lara E., Friel, Grace, Lurie, Galina, Killeen, Jeffrey L., Wilkens, Lynne R., Goodman, Marc T., Runnebaum, Ingo, Hillemanns, Peter A., Pelttari, Liisa M., Butzow, Ralf, Modugno, Francesmary, Edwards, Robert P., Ness, Roberta B., Moysich, Kirsten B., du Bois, Andreas, Heitz, Florian, Harter, Philipp, Kommoss, Stefan, Karlan, Beth Y., Walsh, Christine, Lester, Jenny, Jensen, Allan, Kjaer, Susanne Kruger, Hogdall, Estrid, Peissel, Bernard, Bonanni, Bernardo, Bernard, Loris, Goode, Ellen L., Fridley, Brooke L., Vierkant, Robert A., Cunningham, Julie M., Larson, Melissa C., Fogarty, Zachary C., Kalli, Kimberly R., Liang, Dong, Lu, Karen H., Hildebrandt, Michelle A. T., Wu, Xifeng, Levine, Douglas A., Dao, Fanny, Bisogna, Maria, Berchuck, Andrew, Iversen, Edwin S., Marks, Jeffrey R., Akushevich, Lucy, Cramer, Daniel W., Schildkraut, Joellen, Terry, Kathryn L., Poole, Elizabeth M., Stampfer, Meir, Tworoger, Shelley S., Bandera, Elisa V., Orlow, Irene, Olson, Sara H., Bjorge, Line, Salvesen, Helga B., van Altena, Anne M., Aben, Katja K. H., Kiemeney, Lambertus A., Massuger, Leon F. A. G., Pejovic, Tanja, Bean, Yukie, Brooks Wilson, Angela, Kelemen, Linda E., Cook, Linda S., Le, Nhu D., Grski, Bohdan, Gronwald, Jacek, Menkiszak, Janusz, Hogdall, Claus K., Lundvall, Lene, Nedergaard, Lotte, Engelholm, Svend Aage, Dicks, Ed, Tyrer, Jonathan, Campbell, Ian, McNeish, Iain, Paul, James, Siddiqui, Nadeem, Glasspool, Rosalind, Whittemore, Alice S., Rothstein, Joseph H., McGuire, Valerie, Sieh, Weiva, Cai, Hui, Shu, Xiao-Ou, Teten, Rachel T., Sutphen, Rebecca, McLaughlin, John R., Narod, Steven A., Phelan, Catherine M., Monteiro, Alvaro N., Fenstermacher, David, Lin, Hui Yi, Permuth, Jennifer B., Sellers, Thomas A., Chen, Y. Ann, Tsai, Ya Yu, Chen, Zhihua, Gentry Maharaj, Aleksandra, Gayther, Simon A., Ramus, Susan J., Menon, Usha, Wu, Anna H., Pearce, Celeste L., Van den Berg, David, Pike, Malcolm C., Dansonka Mieszkowska, Agnieszka, Plisiecka Halasa, Joanna, Moes Sosnowska, Joanna, Kupryjanczyk, Jolanta, Pharoah, Paul D. P., Song, Honglin, Winship, Ingrid, Chenevix Trench, Georgia, Giles, Graham G., Tavtigian, Sean V., Easton, Doug F., Milne, Roger L., Menegaux, Florence, Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Southey, Melissa C., Goldgar, David E., Winqvist, Robert, Pylkas, Katri, Couch, Fergus, Tischkowitz, Marc, Foulkes, William D., Dennis, Joe, Michailidou, Kyriaki, van Rensburg, Elizabeth J., Heikkinen, Tuomas, Nevanlinna, Heli, Hopper, John L., Doerk, Thilo, Claes, Kathleen B. M., Reis Filho, Jorge, Teo, Zhi Ling, Radice, Paolo, Catucci, Irene, Peterlongo, Paolo, Tsimiklis, Helen, Odefrey, Fabrice A., Dowty, James G., Schmidt, Marjanka K., Broeks, Annegien, Hogervorst, Frans B., Verhoef, Senno, Carpenter, Jane, Clarke, Christine, Scott, Rodney J., Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, dos Santos Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Bolla, Manjeet K., Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Marme, Federik, Burwinkel, Barbara, Yang, Rongxi, Guenel, Pascal, Therese Truong, Sanchez, Marie, Bojesen, Stig, Nielsen, Sune F., Flyger, Henrik, Benitez, Javier, Pilar Zamora, M., Arias Perez, Jose Ignacio, Menendez, Primitiva, Anton Culver, Hoda, Neuhausen, Susan, Ziogas, Argyrios, Clarke, Christina A., Brenner, Hermann, Arndt, Volker, Stegmaier, Christa, Brauch, Hiltrud, Bruening, Thomas, Ko, Yon Dschun, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia V., Antonenkova, Natalia N., Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli Matti, Hartikainen, Jaana M., Spurdle, Amanda B., Wauters, Els, Smeets, Dominiek, Beuselinck, Benoit, Floris, Giuseppe, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch Janys, Dieter, Olson, Janet E., Vachon, Celine, Pankratz, Vernon S., McLean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Kristensen, Vessela, Alnaes, Grethe Grenaker, Zheng, Wei, Hunter, David J., Lindstrom, Sara, Hankinson, Susan E., Kraft, Peter, Andrulis, Irene, Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Jukkola Vuorinen, Arja, Grip, Mervi, Kauppila, Saila, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Hollestelle, Antoinette, Garcia Closas, Montserrat, Figueroa, Jonine, Chanock, Stephen J., Lissowska, Jolanta, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Eccles, Diana M., Rafiq, Sajjad, Tapper, William J., Gerty, Sue M., Hooning, Maartje J., Martens, John W. M., Collee, J. Margriet, Tilanus-Linthorst, Madeleine, Hall, Per, Li, Jingmei, Brand, Judith S., Humphreys, Keith, Cox, Angela, Reed, Malcolm W. R., Luccarini, Craig, Baynes, Caroline, Dunning, Alison M., Hamann, Ute, Torres López, Diana María, Ulmer, Hans Ulrich, Ruediger, Thomas, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Slager, Susan, Toland, Amanda E., Ambrosone, Christine B., Yannoukakos, Drakoulis, Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Jones, Michael, Gonzalez Neira, Anna, Pita, Guillermo, Rosario Alonso, M., Alvarez, Nuria, Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Simard, Jacques, Dumont, Martine, Soucy, Penny, Eeles, Rosalind, Muir, Kenneth, Wiklund, Fredrik, Gronberg, Henrik, Schleutker, Johanna, Nordestgaard, Borge G., Weischer, Maren, Travis, Ruth C., Neal, David, Donovan, Jenny L., Hamdy, Freddie C., Khaw, Kay Tee, Stanford, Janet L., Blot, William J., Thibodeau, Stephen, Schaid, Daniel J., Kelley, Joseph L., Maier, Christiane, Kibel, Adam S., Cybulski, Cezary, Cannon Albright, Lisa, Butterbach, Katja, Park, Jong, Kaneva, Radka, Batra, Jyotsna, Teixeira, Manuel R., Kote-Jarai, Zsofia, Al Olama, Ali Amin, Benlloch, Sara, Renner, Stefan P., Hartmann, Arndt, Hein, Alexander, Ruebner, Matthias, Lambrechts, Diether, Van Nieuwenhuysen, Els, Vergote, Ignace, Lambretchs, Sandrina, Doherty, Jennifer A., Rossing, Mary Anne, Nickels, Stefan, Eilber, Ursula, Wang Gohrke, Shan, Odunsi, Kunle, Sucheston Campbell, Lara E., Friel, Grace, Lurie, Galina, Killeen, Jeffrey L., Wilkens, Lynne R., Goodman, Marc T., Runnebaum, Ingo, Hillemanns, Peter A., Pelttari, Liisa M., Butzow, Ralf, Modugno, Francesmary, Edwards, Robert P., Ness, Roberta B., Moysich, Kirsten B., du Bois, Andreas, Heitz, Florian, Harter, Philipp, Kommoss, Stefan, Karlan, Beth Y., Walsh, Christine, Lester, Jenny, Jensen, Allan, Kjaer, Susanne Kruger, Hogdall, Estrid, Peissel, Bernard, Bonanni, Bernardo, Bernard, Loris, Goode, Ellen L., Fridley, Brooke L., Vierkant, Robert A., Cunningham, Julie M., Larson, Melissa C., Fogarty, Zachary C., Kalli, Kimberly R., Liang, Dong, Lu, Karen H., Hildebrandt, Michelle A. T., Wu, Xifeng, Levine, Douglas A., Dao, Fanny, Bisogna, Maria, Berchuck, Andrew, Iversen, Edwin S., Marks, Jeffrey R., Akushevich, Lucy, Cramer, Daniel W., Schildkraut, Joellen, Terry, Kathryn L., Poole, Elizabeth M., Stampfer, Meir, Tworoger, Shelley S., Bandera, Elisa V., Orlow, Irene, Olson, Sara H., Bjorge, Line, Salvesen, Helga B., van Altena, Anne M., Aben, Katja K. H., Kiemeney, Lambertus A., Massuger, Leon F. A. G., Pejovic, Tanja, Bean, Yukie, Brooks Wilson, Angela, Kelemen, Linda E., Cook, Linda S., Le, Nhu D., Grski, Bohdan, Gronwald, Jacek, Menkiszak, Janusz, Hogdall, Claus K., Lundvall, Lene, Nedergaard, Lotte, Engelholm, Svend Aage, Dicks, Ed, Tyrer, Jonathan, Campbell, Ian, McNeish, Iain, Paul, James, Siddiqui, Nadeem, Glasspool, Rosalind, Whittemore, Alice S., Rothstein, Joseph H., McGuire, Valerie, Sieh, Weiva, Cai, Hui, Shu, Xiao-Ou, Teten, Rachel T., Sutphen, Rebecca, McLaughlin, John R., Narod, Steven A., Phelan, Catherine M., Monteiro, Alvaro N., Fenstermacher, David, Lin, Hui Yi, Permuth, Jennifer B., Sellers, Thomas A., Chen, Y. Ann, Tsai, Ya Yu, Chen, Zhihua, Gentry Maharaj, Aleksandra, Gayther, Simon A., Ramus, Susan J., Menon, Usha, Wu, Anna H., Pearce, Celeste L., Van den Berg, David, Pike, Malcolm C., Dansonka Mieszkowska, Agnieszka, Plisiecka Halasa, Joanna, Moes Sosnowska, Joanna, Kupryjanczyk, Jolanta, Pharoah, Paul D. P., Song, Honglin, Winship, Ingrid, Chenevix Trench, Georgia, Giles, Graham G., Tavtigian, Sean V., Easton, Doug F., Milne, Roger L., and Menegaux, Florence

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22 results on '"Menendez, Primitiva"'

1. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

2. Evaluación de resultados en el programa de detección precoz del cáncer de mama del Principado de Asturias

3. Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival

4. Different Patterns of Renal Osteodystrophy in Iberoamerica

5. Association analysis identifies 65 new breast cancer risk loci

6. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

7. Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2

8. Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2

9. Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility

10. Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium

11. Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

12. Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

13. Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast

14. Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast

15. Body mass index and breast cancer survival: a Mendelian randomization analysis

16. Fine Needle Aspiration of Sclerosing Lymphocytic Lobulitis of the Breast

17. PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

18. Common germline polymorphisms associated with breast cancer-specific survival

19. Identification of Novel Genetic Markers of Breast Cancer Survival

20. Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium

21. Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade

22. PALB2, CHEK2 and ATM rare variants and cancer risk : data from COGS

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22 results on '"Menendez, Primitiva"'

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