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Blomqvist, Carl

https://orcid.org/0000-0003-3041-1938

Mayo Clinic

University of Helsinki

Citations 26

The role of genetic breast cancer susceptibility variants as prognostic factors
Fasching, Peter A. , Cox, Angela , Nevanlinna, Heli , Bojesen, Stig E. , Karn, Thomas , Leeuwen, Flora E. van , Veer, Laura van ‘t , Udo, Renate, Dunning, Alison M. , Greco, Dario , Aittomäki, Kristiina, Blomqvist, Carl , Shah, Mitul , Nordestgaard, Børge G. , Flyger, Henrik, Hopper, John L. , Southey, Melissa C. , Apicella, Carmel, García‐Closas, Montserrat , Sherman, Mark E., Lissowska, Jolanta , Seynaeve, Caroline, Huijts, Petra E.A., Tollenaar, Rob A.�E.�M. , Ekici, Arif B. , Rauh, Claudia , Mannermaa, Arto, Kataja, Vesa , Kosma, Veli-Matti, Hartikainen, Jaana M. , Andrulis, Irene L. , Özçelik, Hilmi, Mulligan, Anna Marie , Glendon, Gord, Czene, Kamila , Liu, Jianjun , Chang‐Claude, Jenny , Wang‐Gohrke, Shan , Eilber, Ursula, Nickels, Stefan , Dörk, Thilo , Schiekel, Maria, Bremer, Michael , Park‐Simon, Tjoung‐Won, Giles, Graham G. , Severi, Gianluca , Baglietto, Laura , Hooning, Maartje J. , Jager, Agnes , Kriege, Mieke, Lindblom, Annika , Margolin, Sara , Stevens, Kristen N., Kosel, Matthew , Cross, Simon S. , Balasubramanian, Sabapathy P. , Reed, Malcolm , Miron, Alexander, John, Esther M. , Winqvist, Robert , Pylkäs, Katri , Jukkola‐Vuorinen, Arja , Kauppila, Saila , Burwinkel, Barbara , Schneeweiß, Andreas , Sohn, Christof , Chenevix‐Trench, Georgia , Investigators, kConFab, Lambrechts, Diether , Dieudonné, Anne-Sophie, Hatse, Sigrid , Limbergen, Erik Van, Zamora, M. Pilar , Peissel, Bernard , Loris, Bernard, Peterlongo, Paolo , Rajaraman, Preetha , Beckmann, Matthias W. , Slamon, Dennis J. , Phillips, Kelly‐Anne , Humphreys, Manjeet K., Easton, Douglas F. , Schmidt, Marjanka K. , Thorne, Heather , Purrington, Kristen S. , Lambrechts, Diether , Pharoah, Paul D.P. , Broeks, Annegien , Veer, Laura J. van’t , Ziogas, Argyrios , Mannermaa, Arto, Hall, Per N , Martens, John W.M. , Couch, Fergus J. , Olson, Janet E. , Marmé, Frederik , Investigators, kConFab, Benı́tez, Javier , Milne, Roger L. , Pérez, José Ignacio Arias , Bonanni, Bernardo , Schonfeld, Sara J. , Anton‐Culver, Hoda , Devilee, Peter , Figueroa, Jonine D. , Nevanlinna, H , Dörk, Thilo , Lambrechts, Diether , Giles, Graham G , Peterlongo, Paolo , Lissowska, Jolanta , John, Esther M , Southey, Melissa C , Dunning, Alison M , Lambrechts, Diether , Cox, Angela , García-Closas, Montserrat , Schmidt, Marjanka K , Severi, Gianluca , Ekici, Arif B , Hartikainen, Jaana M , Chenevix-Trench, Georgia , Czene, Kamila , Pylkäs, Katri , Baglietto, Laura , Bojesen, Stig E , Purrington, Kristen S , Phillips, Kelly-Anne , Lindblom, Annika , Liu, Jing

Human Molecular Genetics | April 25, 2012 | Volume: 21 | Issue: 17 | Pages: 3926-3939

10.1093/hmg/dds159 Get It

19p13.1 Is a Triple-Negative–Specific Breast Cancer Susceptibility Locus
Stevens, Kristen N., Fredericksen, Zachary, Vachon, Celine M. , Margolin, Sara , Lindblom, Annika , Nevanlinna, Heli , Greco, Dario , Aittomäki, Kristiina, Blomqvist, Carl , Chang‐Claude, Jenny , Vrieling, Alina , Flesch‐Janys, Dieter, Sinn, Hans‐Peter , Wang‐Gohrke, Shan , Nickels, Stefan , Brauch, Hiltrud , Ko, Yon‐Dschun, Fischer, Hans‐Peter , Schmutzler, Rita K., Meindl, Alfons, Bartram, Claus R., Schott, Sarah , Engel, Christoph , Weaver, JoEllen , Sharma, Priyanka , Brenner, Hermann , Stegmaier, Christa, Miron, Penelope , Yannoukakos, Drakoulis , Stavropoulou, Alexandra , Fountzilas, George , Swann, Ruth , Dwek, Miriam , Perkins, Annie, Zamora, María Pilar, Bojesen, Stig E. , Nielsen, Sune F. , Nordestgaard, Børge G. , Flyger, Henrik, Guénel, Pascal , Truong, Thérèse , Ménégaux, F. , Cordina‐Duverger, Emilie, Burwinkel, Barbara , Marmé, Frederick, Schneeweiß, Andreas , Sohn, Christof , Sawyer, Elinor J. , Tomlinson, Ian , Kerin, Michael J. , Peto, Julian , Johnson, Nichola , dos‐Santos‐Silva, Isabel , Fasching, Peter A. , Beckmann, Matthias W. , Hartmann, Arndt , Ekici, Arif B. , Lophatananon, Artitaya, Muir, Kenneth , Puttawibul, Puttisak, Wiangnon, Surapon , Schmidt, Marjanka K. , Braaf, Linde M., Rosenberg, Efraim H. , Hopper, John L. , Apicella, Carmel, Park, Daniel J. , Southey, Melissa C. , Swerdlow, Anthony J. , Ashworth, Alan , Orr, Nicholas, Schoemaker, Minouk J. , Dur, Christina Clarke, Shen, Chen‐Yang , Yu, Jyh-Cherng, Hsu, Huan-Ming, Hsiung, Chia‐Ni , Hamann, Ute , Dünnebier, Thomas, Rüdiger, Thomas , Ulmer, Hans Ulrich, Dunning, Alison M. , Humphreys, Manjeet K., Wang, Qin , Cox, Angela , Cross, Simon S. , Reed, Malcolm , Czene, Kamila , Ademuyiwa, Foluso O. , Hwang, Helena, Eccles, Diana M., García‐Closas, Montserrat , Figueroa, Jonine D. , Sherman, Mark E., Lissowska, Jolanta , Seynaeve, Caroline, Tollenaar, Rob A.�E.�M. , Hooning, Maartje J. , Andrulis, Irene L. , Knight, Julia A. , Glendon, Gord, Mulligan, Anna Marie , Winqvist, Robert , Pylkäs, Katri , Jukkola‐Vuorinen, Arja , Grip, Mervi, John, Esther M. , Miron, Alexander, Alnæs, Grethe Grenaker, Kristensen, Vessela, Børresen‐Dale, Anne‐Lise , Giles, Graham G. , Baglietto, Laura , McLean, Catriona , Severi, Gianluca , Kosel, Matthew L., Pankratz, V.S., Slager, Susan, Radice, Paolo , Peterlongo, Paolo , Manoukian, Siranoush , Barile, Monica, Lambrechts, Diether , Hatse, Sigrid , Dieudonné, Anne-Sophie, Christiaens, Marie-Rose, Chenevix‐Trench, Georgia , Chen, Xiaoqing, Mannermaa, Arto, Kosma, Veli‐Matti , Hartikainen, Jaana M. , Soini, Ylermi, Easton, Douglas F., Eccles, Diana , Orr, Nick , Thorne, Heather , Purrington, Kristen S. , Lambrechts, Diether , Vachon, Celine M. , Wang, Xianshu , Meindl, Alfons, Godwin, Andrew K. , Pathak, Harsh B. , Müller, Heiko , Arndt, Volker , Gogas, Helen J , Milne, Roger L. , Benı́tez, Javier , Pérez, José Ignacio Arias , Fletcher, Olivia , Broeks, Annegien , Orr, Nicholas, Anton‐Culver, Hoda , Ziogas, Argyrios , Bernstein, Leslie , Pharoah, Paul D.P. , Hall, Per N , Ambrosone, Christine B. , Eccles, Diana M., Devilee, Peter , Kristensen, Vessela N. , Kosel, Matthew , Olson, Janet E. , Beesley, Jonathan , Chen, Xiaoqing, Mannermaa, Arto, Couch, Fergus J. , Nevanlinna, H , Lambrechts, Diether , Giles, Graham G , Peterlongo, Paolo , Eccles, Diana , Swerdlow, Anthony J , Radice, Paolo , Lissowska, Jolanta , John, Esther M , Southey, Melissa C , Sinn, Peter , Muir, Kenneth , Dunning, Alison M , Lambrechts, Diether , Brenner, Hermann , Cox, Angela , Guénel, Pascal , García-Closas, Montserrat , Schmidt, Marjanka K , Severi, Gianluca , Ekici, Arif B , Hartikainen, Jaana M , Engel, Christoph , Chenevix-Trench, Georgia , Figueroa, Jonine D , Czene, Kamila , Ademuyiwa, Foluso O , Pylkäs, Katri , Yannoukakos, Drakoulis , Manoukian, Siranoush , Baglietto, Laura , Bojesen, Stig E , Purrington, Kristen S , Sharma, Priyanka , Schoemaker, Minouk J , Truong, Therese , Mclean, Catriona , Brauch, Hiltrud , Lindblom, Annika , Sawyer, Elinor J , Orr, Nick

Cancer Research | February 13, 2012 | Volume: 72 | Issue: 7 | Pages: 1795-1803

10.1158/0008-5472.can-11-3364 Get It

Abstract The 19p13.1 breast cancer susceptibility locus is a modifier of breast cancer risk in BRCA1 mutation carriers and is also associated with the risk of ovarian cancer. Here, we investigated 19p13.1 variation and risk of breast cancer subtypes, defined by estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor-2 (HER2) status, using 48,869 breast cancer cases and 49,787 controls from the Breast Cancer Association Consortium (BCAC). Variants from 19p13.1 were not associated with breast cancer overall or with ER-positive breast cancer but were significantly associated with ER-negative breast cancer risk [rs8170 OR, 1.10; 95% confidence interval (CI), 1.05–1.15; P = 3.49 × 10−5] and triple-negative (ER-, PR-, and HER2-negative) breast cancer (rs8170: OR, 1.22; 95% CI, 1.13–1.31; P = 2.22 × 10−7). However, rs8170 was no longer associated with ER-negative breast cancer risk when triple-negative cases were excluded (OR, 0.98; 95% CI, 0.89–1.07; P = 0.62). In addition, a combined analysis of triple-negative cases from BCAC and the Triple Negative Breast Cancer Consortium (TNBCC; N = 3,566) identified a genome-wide significant association between rs8170 and triple-negative breast cancer risk (OR, 1.25; 95% CI, 1.18–1.33; P = 3.31 × 10−13]. Thus, 19p13.1 is the first triple-negative–specific breast cancer risk locus and the first locus specific to a histologic subtype defined by ER, PR, and HER2 to be identified. These findings provide convincing evidence that genetic susceptibility to breast cancer varies by tumor subtype and that triple-negative tumors and other subtypes likely arise through distinct etiologic pathways. Cancer Res; 72(7); 1795–803. ©2012 AACR.
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers
Cox, David G. , Simard, Jacques , Sinnett, Daniel , Hamdi, Yosr , Soucy, Penny, Ouimet, Manon , Barjhoux, Laure, Verny-Pierre, Carole, McGuffog, Lesley , Healey, Sue, Greene, Mark H. , Mai, Phuong L., Andrulis, Irene L. , Network, Ontario Cancer Genetics, Thomassen, Mads , Gerdes, Anne‐Marie , Caligo, Maria A. , Friedman, Eitan , Laitman, Yael , Paluch, Shani Shimon, Borg, Åke , Karlsson, Per , Askmalm, Marie Stenmark, Bustinza, Gisela Barbany, Collaborators, SWE-BRCA, Nathanson, Katherine L. , Rebbeck, Timothy R., Hamann, Ute, Rookus, Matti A. , Ouweland, Ans M.W. van den, Ausems, Margreet G.E.M. , Aalfs, Cora M. , Gille, Hans J. J. P., HEBON, EMBRACE, Peock, Susan, Frost, Debra, Evans, D. Gareth , Eeles, Rosalind A. , Izatt, Louise , Adlard, Julian, Paterson, Joan, Eason, Jacqueline, Remon, Marie-Alice, Moncoutier, Virginie, Gauthier‐Villars, Marion , Lasset, Christine, Giraud, Sophie , Hardouin, Agnès, Berthet, Pascaline, Sobol, Hagay , Eisinger, François , Paillerets, Brigitte Bressac–de , Delnatte, Capucine, Collaborators, GEMO Study, Goldgar, David E., Miron, Alex, Özçelik, Hilmi, Southey, Melissa C. , Terry, Mary Beth , Registry, The Breast Cancer Family, Dressler, Anne-Catharina, Tea, Muy‐Kheng M., Hansen, Thomas van Overeem , Jóhannsson, Óskar Þór, Piedmonte, Marion, Rodriguez, Gustavo C. , Basil, Jack, Blank, Stephanie V. , Montagna, Marco , Blanco, Ignacio , Gayther, Simon A. , Moysich, Kirsten B., Schmutzler, Rita K., Wappenschmidt, Barbara , Engel, Christoph , Meindl, Alfons , Ditsch, Nina , Arnold, Norbert , Niederacher, Dieter , Sutter, Christian , Gadzicki, Dorothea, Fiebig, Britta, Caldes, Trinidad, Laframboise, Rachel , Nevanlinna, Heli , Chen, Xiaoqing, Spurdle, Amanda B. , Ding, Yuan Chun , Peterlongo, Paolo , Manoukian, Siranoush , Bernard, Loris, Radice, Paolo , Easton, Douglas F. , Chenevix‐Trench, Georgia , Antoniou, Antonis C. , Mazoyer, Sylvie, Sinilnikova, Olga M., Sinilnikova, Olga M., Dumont, Martine, Mai, Phuong , Greene, MH, Glendon, Gord, Selander, Teresa, Weerasooriya, Nayana , Karlsson, Per, Nordling, Margareta , Bergman, Annika, Einbeigi, Zakaria , Stenmark-Askmalm, Marie, Liedgren, S, Borg, Åke, Loman, Niklas, Olsson, Håkan , Kristoffersson, Ulf , Harbst, Katja , Henriksson, Karin, Lindblom, Annika , Arver, Brita, Wachenfeldt, Anna von , Liljegren, Annelie, Rantala, Johanna, Melin, Beatrice , Grönberg, Henrik , Stattin, Eva‐Lena , Emanuelsson, Monica, Ehrencrona, Hans , Seidel‐Renkert, Antje, Hogervorst, Frans B.L., Verhoef, S., Verheus, Martijn, Veer, Laura J. van’t , Leeuwen, Flora E. van , Rookus, M.A., Collée, Margriet , Ouweland, A.M.W. van den, Jager, Agnes , Hooning, Maartje J. , Tilanus‐Linthorst, Madeleine M.A., Seynaeve, Caroline, Asperen, C.J. van, Tollenaar, R.A., Devilee, P., Ligtenberg, M.J., Hoogerbrugge, Nicoline , Ausems, M.G., Aalfs, C.M., Os, T.A. van, Gille, J.J.P., Waisfisz, Quinten , Meijers‐Heijboer, Hanne , Gómez, E. , Roozendaal, Cees E. 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Gareth, Lalloo, Fiona, Side, Lucy, Male, Alison , Berlin, Cheryl, Eason, Jacqueline , Collier, Rebecca, Douglas, Fiona, Claber, Oonagh, Jobson, Irene, Walker, Lisa, McLeod, Diane M., Halliday, Dorothy , Durell, Sarah, Stayner, Barbara, Eeles, Ros, Shanley, Susan, Rahman, Nazneen , Bancroft, Elizabeth, D'Mello, Lucia, Page, Elizabeth, Ardern‐Jones, Audrey, Castro, Elena , Robertson, Lisa , Bardsley, Cathryn, Hodgson, Shirley, Goff, Sheila, Brice, Glen , Winchester, Lizzie, Eddy, Charlotte, Tripathi, Vishakha , Attard, Virginia, Eccles, Diana , Lucassen, Anneke , Crawford, Gillian, McBride, Donna, Smalley, Sarah, Evans, D. 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Irja, Thorne, Heather , Niedermayr, Eveline, Perez-Segura, Pedro, Durocher, Francine , John, Esther M. , Adlard, Julian , Stenmark‐Askmalm, Marie , Faivre, Laurence , Szabo, Csilla I. , Mai, Phuong L., Network, Ontario Cancer Genetics, Kaufman, Bella , Collaborators, SWE-BRCA, Domchek, Susan M. , Benı́tez, Javier , Asperen, Christi J. van , Devilee, Peter , HEBON, EMBRACE, Peock, Susan, Frost, Debra, Adlard, Julian, Paterson, Joan, Eason, Jacqueline, Godwin, Andrew K. , Lasset, Christine , Berthet, Pascaline, Caron, Olivier , Collaborators, GEMO Study, Buys, Saundra S. , Registry, The Breast Cancer Family, Singer, Christian F. , Dressler, Anne Catharina, Toland, Amanda Ewart , Isaacs, Claudine , Meindl, Alfons , Caldes, Trinidad, Chen, Xiaoqing, Beesley, Jonathan , Neuhausen, Susan L. , Couch, Fergus J. , Wang, Xianshu , Stoppa‐Lyonnet, Dominique , Mazoyer, Sylvie, Sinilnikova, Olga M., Dumont, Martine , Karlsson, Per, Borg, Åke, Soller, Maria , Jernström, Helena , Barbany, Gisela , Torres, Diana , Rashid, Muhammad Usman , Rookus, M.A., Asperen, C.J. van, Wijnen, Juul , Vreeswijk, Maaike P.G. , Devilee, P., Ligtenberg, M.J., Ausems, M.G., Luijt, Rob B. van der , Aalfs, C.M., Os, T.A. van, Gille, J.J.P., Easton, Douglas F., Cook, Margaret, Morrison, Patrick J. , Cole, Trevor, James, Margaret, Taylor, Amy , McCann, Emma, Kennedy, M. John, Snadden, Lesley, Izatt, Louise, Dorkins, Huw , Barwell, Julian, Adlard, Julian, Houghton, Catherine E. , Evans, D. Gareth, Lalloo, Fiona, Taylor, Jane Elizabeth , Berlin, Cheryl, Eeles, Ros, Houlston, Richard S. , Bancroft, Elizabeth, D'Mello, Lucia, Kohut, Kelly , Wiggins, Jennifer M. , Mitra, Anita , Cook, Jackie A , Quarrell, Oliver , Crawford, Gillian, Evans, D. Gareth, Lalloo, Fiona, Eeles, Ros, Bancroft, Elizabeth, D'Mello, Lucia, Sinilnikova, Olga, Sinilnikova, Olga, Giraud, Sophie, Stoppa-Lyonnet, Dominique, Moncoutier, Virginie, Pauw, Antoine de, Bressac-de-Paillerets, Brigitte, Remenieras, Audrey, Lasset, Christine, Bonadona, Valérie, Eisinger, François, Pujol, Pascal , Fournier, Joëlle , Vennin, Philippe, Delnatte, Capucine, Ejlertsen, Bent , Kjærgaard, Susanne, Senter, Leigha , Craven, Caroline M. , Pharoah, Paul D.P. , Harrington, Patricia , Blomqvist, Carl , Heikkinen, Tuomas , Hoya, Miguel de la , Nevanlinna, H , Caligo, Maria A , Peterlongo, Paolo , Spurdle, Amanda B , Eccles, Diana , Moysich, Kirsten , Radice, Paolo , Adlard, Julian , Arnold, Norbert , Eeles, Rosalind A , Ehrencrona, Hans , Evans, D Gareth , John, Esther M , Southey, Melissa C , Nathanson, Katherine L , Engel, Christoph , Montagna, Marco , Simard, Jacques , Chenevix-Trench, Georgia , Faivre, Laurence , Gómez-García, Encarna B , Hansen, Thomas van Overeem , Manoukian, Siranoush , Terry, Mary Beth , Lindblom, Annika , Ellis, Ian

Human Molecular Genetics | September 3, 2011 | Volume: 20 | Issue: 23 | Pages: 4732-4747

10.1093/hmg/ddr388 Get It

Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium†
García‐Closas, Montserrat , Humphreys, Manjeet K., Platte, Radka, Hopper, John L. , Southey, Melissa C. , Apicella, Carmel, Hammet, Fleur, Schmidt, Marjanka K. , Tollenaar, Rob A.�E.�M. , Veer, Laura J. van’t , Fasching, Peter A. , Beckmann, Matthias W. , Ekici, Arif B. , Strick, Reiner , Peto, Julian , dos‐Santos‐Silva, Isabel , Fletcher, Olivia , Johnson, Nichola , Sawyer, Elinor J. , Tomlinson, Ian , Kerin, Michael J. , Burwinkel, Barbara , Marmé, F., Schneeweiß, Andreas , Sohn, Christof , Bojesen, Stig E. , Flyger, Henrik, Nordestgaard, Børge G. , Zamora, M. Pilar , Brenner, Hermann , Rahman, Nazneen , Turnbull, Clare , Seal, Sheila, Renwick, Anthony, Brauch, Hiltrud , Justenhoven, Christina , Brüning, Thomas , Network, The GENICA, Chang‐Claude, Jenny , Hein, Rebecca, Wang‐Gohrke, Shan , Dörk, Thilo , Schürmann, Peter , Bremer, Michael , Hillemanns, Peter , Nevanlinna, Heli , Heikkinen, Tuomas , Aittomäki, Kristiina, Blomqvist, Carl , Bogdanova, Natalia , Antonenkova, Natalia, Rogov, Yuriy , Karstens, Johann H., Bermisheva, Marina , Prokofieva, Darya, Gantcev, Shamil Hanafievich, Хуснутдинова, Э. К. , Lindblom, Annika , Margolin, Sara , Chenevix‐Trench, Georgia , Chen, Xiaoqing, Group, for the kConFab AOCS Management, Mannermaa, Arto, Kosma, Veli‐Matti , Soini, Ylermi, Kataja, Vesa , Lambrechts, Diether , Yesilyurt, Betül T., Chrisiaens, Marie-Rose, Peeters, Stéphanie , Radice, Paolo , Peterlongo, Paolo , Manoukian, Siranoush , Barile, Monica, Couch, Fergus, Diasio, Robert B. , Giles, Graham G. , Severi, Gianluca , Baglietto, Laura , Maclean, Catriona, Offit, Ken, Robson, Mark E. , Vijai, Joseph , Gaudet, Mia M., John, Esther M. , Winqvist, Robert , Pylkäs, Katri , Jukkola‐Vuorinen, Arja , Grip, Mervi, Andrulis, Irene L. , Knight, Julia A. , Mulligan, Anna Marie , O’Malley, Frances P., Brinton, Louise A. , Sherman, Mark E., Lissowska, Jolanta , Hooning, Maartje J. , Ouweland, Ans M.W. van den, Collée, J. Margriet, Czene, Kamila , Cox, Angela , Brock, Ian W., Reed, Malcolm , Cross, Simon S. , Dunning, Alison M. , Kang, Daehee , Yoo, Keun-Young, Noh, Dong‐Young , Ahn, Sei Hyun , Jakubowska, Anna , Lubiński, Jan , Jaworska, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn , Gaborieau, Valérie , Brennan, Paul , McKay, James , Shen, Chen‐Yang , Ding, Shian-ling, Hsu, Huan-Ming, Yu, Jyh-Cherng, Ashworth, Alan , Swerdlow, Anthony J. , Jones, Michael E. , Orr, Nick , Egan, Kathleen M. , Titus‐Ernstoff, Linda, Easton, Doug , Spurdle, Amanda B. , Webb, Penelope M. , DeFazio, Anna , Thorne, Heather , Lambrechts, Diether , Figueroa, Jonine D. , Broeks, Annegien , Benı́tez, Javier , Milne, Roger L. , Arias, José Ignacio , Müller, Heiko , Arndt, Volker , Network, The GENICA, Beesley, Jonathan , Chen, Xiaoqing, Group, for the kConFab AOCS Management, Mannermaa, Arto, Lee, Adam M. , Wang, Xianshu , Chanock, Stephen Jacob , Martens, John W.M. , Hall, Per N , Pharoah, Paul D.P. , Anton‐Culver, Hoda , Ziogas, Argyrios , Trentham‐Dietz, Amy , Newcomb, Polly A. , Fazio, Anna de , Nevanlinna, H , Dörk, Thilo , Lambrechts, Diether , Giles, Graham G , Peterlongo, Paolo , Spurdle, Amanda B , Webb, Penelope M , Hillemanns, Peter , Swerdlow, Anthony J , Radice, Paolo , Lissowska, Jolanta , John, Esther M , Joseph, Vijai , Southey, Melissa C , Dunning, Alison M , Jakubowska, Anna , Jones, Michael E , Lambrechts, Diether , Brenner, Hermann , Cox, Angela , García-Closas, Montserrat , Schmidt, Marjanka K , Severi, Gianluca , Ekici, Arif B , Bogdanova, Natalia V , Robson, Mark , Chenevix-Trench, Georgia , Czene, Kamila , Pylkäs, Katri , Manoukian, Siranoush , Lubinski, Jan , Baglietto, Laura , Fletcher, Olivia , Bojesen, Stig E , Brauch, Hiltrud , Lindblom, Annika , Sawyer, Elinor J , Orr, Nick , Kang, Daehee

Human Molecular Genetics | August 18, 2011 | Volume: 20 | Issue: 23 | Pages: 4693-4706

10.1093/hmg/ddr368 Get It

Common Breast Cancer Susceptibility Loci Are Associated with Triple-Negative Breast Cancer
Stevens, Kristen N., Vachon, Celine M. , Slager, Susan, Lesnick, Timothy G. , Olswold, Curtis, Fasching, Peter A. , Miron, Penelope , Eccles, Diana , Carpenter, Jane, Winqvist, Robert , Brauch, Hiltrud , Schmidt, Marjanka K. , Cox, Angela , Cross, Simon S. , Sawyer, Elinor J. , Hartmann, Arndt, Beckmann, Matthias W. , Schulz-Wendtland, Rüdiger, Ekici, Arif B. , Tapper, William , Gerty, Susan M. , Durcan, Lorraine , Graham, Nikki , Hein, Rebecca, Nickels, Stephan, Flesch‐Janys, Dieter, Heinz, Judith , Sinn, Hans‐Peter , Konstantopoulou, Irene , Pectasides, Dimitrios , Dimopoulos, Athanasios M., Clarke, Christine L. , Balleine, Rosemary L. , Fredericksen, Zachary, Diasio, Robert B. , Ross, Eric A. , Weaver, JoEllen , Rüdiger, Thomas , Dünnebier, Thomas, Ademuyiwa, Foluso O. , Kulkarni, Swati , Pylkäs, Katri , Jukkola‐Vuorinen, Arja , Ko, Yon‐Dschun, Limbergen, Erik Van, Janssen, Hilde, Peto, Julian , Fletcher, Olivia , Giles, Graham G. , Baglietto, Laura , Verhoef, Senno, Tomlinson, Ian , Kosma, Veli‐Matti , Greco, Dario , Blomqvist, Carl , Irwanto, Astrid , Liu, Jianjun , Blows, Fiona M., Dawson, Sarah‐Jane , Margolin, Sara , Mannermaa, Arto, Martin, Nicholas G. , Montgomery, Grant W. , Lambrechts, Diether , dos‐Santos‐Silva, Isabel , Severi, Gianluca , Hamann, Ute, Easton, Douglas F., Chang‐Claude, Jenny , Yannoukakos, Drakoulis , Nevanlinna, Heli , Dimopoulos, Meletios Α. , Purrington, Kristen S. , Lambrechts, Diether , Vachon, Celine M. , Lee, Adam M. , Godwin, Andrew K. , Ambrosone, Christine B. , Fostira, Florentia , Dimopoulos, Athanasios M., Fountzilas, George , Olson, Janet E. , Pathak, Harsh B. , Försti, Asta , Beesley, Jonathan , Mannermaa, Arto, Pharoah, Paul D.P. , Wang, Xianshu , Couch, Fergus J. , Nevanlinna, H , Lambrechts, Diether , Giles, Graham G , Eccles, Diana , Dimopoulos, Meletios A , Konstantopoulou, Irene , Martin, Nicholas G , Sinn, Peter , Lambrechts, Diether , Cox, Angela , Schmidt, Marjanka K , Severi, Gianluca , Ekici, Arif B , Ademuyiwa, Foluso O , Pylkäs, Katri , Yannoukakos, Drakoulis , Baglietto, Laura , Fletcher, Olivia , Purrington, Kristen S , Brauch, Hiltrud , Sawyer, Elinor J , Liu, Jing

Cancer Research | August 15, 2011 | Volume: 71 | Issue: 19 | Pages: 6240-6249

10.1158/0008-5472.can-11-1266 Get It

Abstract Triple-negative breast cancers are an aggressive subtype of breast cancer with poor survival, but there remains little known about the etiologic factors that promote its initiation and development. Commonly inherited breast cancer risk factors identified through genome-wide association studies display heterogeneity of effect among breast cancer subtypes as defined by the status of estrogen and progesterone receptors. In the Triple Negative Breast Cancer Consortium (TNBCC), 22 common breast cancer susceptibility variants were investigated in 2,980 Caucasian women with triple-negative breast cancer and 4,978 healthy controls. We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), rs12662670 (ESR1), rs3803662 (TOX3), rs999737 (RAD51L1), rs8170 (19p13.1), and rs8100241 (19p13.1), significantly associated with the risk of triple-negative breast cancer. Together, our results provide convincing evidence of genetic susceptibility for triple-negative breast cancer. Cancer Res; 71(19); 6240–9. ©2011 AACR.
Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium
Schmidt, Marjanka K. , Sherman, Mark E., Hopper, John L. , Dite, Gillian S. , Apicella, Carmel, Smith, Letitia, Hammet, Fleur, Southey, Melissa C. , Veer, Laura van ‘t , Smit, Vincent T.H.B.M. , Fasching, Peter A. , Beckmann, Matthias W. , Jud, Sebastian M. , Ekici, Arif B. , Hartmann, Arndt , Hein, Alexander , Schulz-Wendtland, R., Burwinkel, Barbara , Schneeweiß, Andreas , Sinn, Hans‐Peter , Sohn, Christof , Tchatchou, Sandrine, Bojesen, Stig E. , Nordestgaard, Børge G. , Flyger, Henrik, Ørsted, David D., Kaur‐Knudsen, Diljit, Rodríguez, Primitiva Menéndez, Brauch, Hiltrud , Justenhoven, Christina , Ko, Yon‐Dschun, Network, The Genica, Hamann, Ute, Fischer, Hans‐Peter , Brüning, Thomas , Pesch, Beate, Chang‐Claude, Jenny , Wang‐Gohrke, Shan , Bremer, Michael , Karstens, Johann H., Hillemanns, Peter , Dörk, Thilo , Nevanlinna, Heli , Heikkinen, Tuomas , Blomqvist, Carl , Aittomäki, Kristiina, Aaltonen, Kirsimari, Lindblom, Annika , Margolin, Sara , Mannermaa, Arto, Kosma, Veli‐Matti , Kauppinen, Jaana M., Kataja, Vesa , Auvinen, Päivi , Eskelinen, Matti , Soini, Ylermi, Chenevix‐Trench, Georgia , Spurdle, Amanda B. , Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, kConFab, AOCS, Lambrechts, Diether , Claes, Bart, Vandorpe, T., Neven, Patrick , Wildiers, Hans , Flesch‐Janys, Dieter, Hein, Rebecca, Löning, Thomas , Kosel, Matthew , Fredericksen, Zachary S., Giles, Graham G. , Baglietto, Laura , Severi, Gianluca , McLean, Catriona , Haiman, Christopher A., Henderson, Brian E., Kolonel, Laurence N. , Alnæs, Grethe Grenaker, Kristensen, Vessela, Børresen‐Dale, Anne‐Lise , Hunter, David J. , Hankinson, Susan E. , Andrulis, Irene L. , Mulligan, Anna Marie , O’Malley, Frances P., Huijts, Petra E.A., Tollenaar, Rob A.�E.�M. , Seynaeve, Caroline, Lissowska, Jolanta , Brinton, Louise A. , Pepłońska, Beata , Yang, Xiaohong R. , Hooning, Maartje J. , Hollestelle, Antoinette , Oldenburg, Rogier A., Jager, Agnes , Kriege, Mieke, Ozturk, Bahar, Czene, Kamila , Humphreys, Keith , Liu, Jianjun , Cox, Angela , Connley, Daniel, Cramp, Helen, Balasubramanian, Sabapathy P. , Reed, Malcolm , Dunning, Alison M. , Easton, Douglas F., Humphreys, Manjeet K., Caldas, Carlos , Blows, Fiona M., Driver, Kristy, Provenzano, Elena , Lubiński, Jan , Jakubowska, Anna , Huzarski, Tomasz , Byrski, Tomasz , Górski, Bohdan , Brennan, Paul , Sangrajrang, Suleeporn , Gaborieau, Valérie , Shen, Chen‐Yang , Hsiung, Chia‐Ni , Yu, Jyh‐Cherng , Chen, Shou‐Tung , Hsu, Giu‐Cheng, Hou, Ming‐Feng , Huang, Chiun‐Sheng , García‐Closas, Montserrat , Thorne, Heather , Hartikainen, Jaana M. , Bowtell, David D.L. , Lambrechts, Diether , Broeks, Annegien , Couch, Fergus J. , Veer, Laura J. van’t , Groot, Renate H. M. de , Marmé, Frederik , Milne, Roger L. , Pérez, José Ignacio Arias , Zamora, Pilar M. , Benı́tez, Javier , Network, The Genica, Heikkilä, Päivi , Mannermaa, Arto, Chen, Xiaoqing, kConFab, AOCS, Wang, Xianshu , Marchand, Loı̈c Le , Kristensen, Vessela N. , Devilee, Peter , Asperen, Christi J. van , Chanock, Stephen Jacob , Figueroa, Jonine D. , Leenders, Geert J.L.H. van , Hall, Per N , Cross, Simon S. , Cybulski, Cezary , Gronwald, Jacek , Anton‐Culver, Hoda , Ziogas, Argyrios , Pharoah, Paul D.P. , Nevanlinna, H , Dörk, Thilo , Lambrechts, Diether , Giles, Graham G , Spurdle, Amanda B , Hein, Alexander , Hillemanns, Peter , Lissowska, Jolanta , Caldas, Carlos , Southey, Melissa C , Sinn, Peter , Dunning, Alison M , Jakubowska, Anna , Lambrechts, Diether , Cox, Angela , García-Closas, Montserrat , Schmidt, Marjanka K , Severi, Gianluca , Ekici, Arif B , Hartikainen, Jaana M , Chenevix-Trench, Georgia , Huzarski, Tomasz , Czene, Kamila , Bowtell, David D , Lubinski, Jan , Baglietto, Laura , Bojesen, Stig E , Huang, Chiun-Sheng , Wildiers, Hans , Mclean, Catriona , Brauch, Hiltrud , Lindblom, Annika , Liu, Jing

Human Molecular Genetics | May 19, 2011 | Volume: 20 | Issue: 16 | Pages: 3289-3303

10.1093/hmg/ddr228 Get It