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A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11
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Human Molecular Genetics | September 14, 2012 | Volume: 21 | Issue: 24 | Pages: 5373-5384
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
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
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.
Mammographic Breast Density and Breast Cancer: Evidence of a Shared Genetic Basis
Varghese, Jajini S. , Thompson, Deborah J. , Michailidou, Kyriaki , Lindström, Sara , Turnbull, Clare , Brown, Judith, Leyland, Jean, Warren, Ruth , Luben, Robert , Loos, Ruth J. F. , Rommens, Johanna M. , Paterson, Andrew D. , Vachon, Celine M. , Scott, Christopher G. , Atkinson, Elizabeth J. , Couch, Fergus J. , Apicella, Carmel, Southey, Melissa C. , Stone, Jennifer , Li, Jingmei , Eriksson, Louise , Czene, Kamila , Boyd, Norman F. , Rahman, Nazneen , Easton, Douglas F., Wareham, Nicholas J. , Martin, Lisa J , Vachon, Celine M. , Hall, Per N , Hopper, John L. , Tamimi, Rulla M. , Luben, Robert N , Southey, Melissa C , Scott, Christopher , Li, Jingmei , Michailidou, Kyriaki , Paterson, Andrew , Loos, Ruth J F , Czene, Kamila , Stone, Jennifer
Cancer Research | January 20, 2012 | Volume: 72 | Issue: 6 | Pages: 1478-1484
Abstract Percent mammographic breast density (PMD) is a strong heritable risk factor for breast cancer. However, the pathways through which this risk is mediated are still unclear. To explore whether PMD and breast cancer have a shared genetic basis, we identified genetic variants most strongly associated with PMD in a published meta-analysis of five genome-wide association studies (GWAS) and used these to construct risk scores for 3,628 breast cancer cases and 5,190 controls from the UK2 GWAS of breast cancer. The signed per-allele effect estimates of single-nucleotide polymorphisms (SNP) were multiplied with the respective allele counts in the individual and summed over all SNPs to derive the risk score for an individual. These scores were included as the exposure variable in a logistic regression model with breast cancer case–control status as the outcome. This analysis was repeated using 10 different cutoff points for the most significant density SNPs (1%–10% representing 5,222–50,899 SNPs). Permutation analysis was also conducted across all 10 cutoff points. The association between risk score and breast cancer was significant for all cutoff points from 3% to 10% of top density SNPs, being most significant for the 6% (2-sided P = 0.002) to 10% (P = 0.001) cutoff points (overall permutation P = 0.003). Women in the top 10% of the risk score distribution had a 31% increased risk of breast cancer [OR = 1.31; 95% confidence interval (CI), 1.08–1.59] compared with women in the bottom 10%. Together, our results show that PMD and breast cancer have a shared genetic basis that is mediated through a large number of common variants. Cancer Res; 72(6); 1478–84. ©2012 AACR.
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
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
Five Polymorphisms and Breast Cancer Risk: Results from the Breast Cancer Association Consortium
Gaudet, Mia M., Cox, Angela , Camp, Nicola J. , Goode, Ellen L. , Humphreys, Manjeet K., Dunning, Alison M. , Giles, Graham G. , Severi, Gianluca , Baglietto, Laura , English, Dallas R. , Chang‐Claude, Jenny , Flesch‐Janys, Dieter, Abbas, Sascha, Salazar, Ramona, Mannermaa, Arto, Kataja, Vesa , Kosma, Veli-Matti, Lindblom, Annika , Margolin, Sara , Heikkinen, Tuomas , Kämpjärvi, Kati, Aaltonen, Kirsimari, Nevanlinna, Heli , Bogdanova, Natalia , Coinac, Irina, Schürmann, Peter , Dörk, Thilo , Bartram, Claus R., Schmutzler, Rita K., Tchatchou, Sandrine, Burwinkel, Barbara , Brauch, Hiltrud , Torres, Diana , Hamann, Ute, Justenhoven, Christina , Ribas, Gloría , Flyger, Henrik L., Peto, Julian , Fletcher, Olivia , Johnson, Nichola , dos‐Santos‐Silva, Isabel , Fasching, Peter A. , Beckmann, Matthias W. , Strick, Reiner , Ekici, Arif B. , Schmidt, Marjanka K. , Leeuwen, Flora E. van , Veer, Laura J. van’t , Southey, Melissa C. , Hopper, John L. , Apicella, Carmel, Haiman, Christopher A., Henderson, Brian E., Kolonel, Laurence N. , Kristensen, Vessela N. , Alnæs, Grethe Grenaker, Hunter, David J. , Cox, David G. , Hankinson, Susan E. , Seynaeve, Caroline, Tollenaar, Rob A.�E.�M. , Lissowska, Jolanta , Brinton, Louise A. , Pepłońska, Beata , Czene, Kamila , Li, Yuqing , Liu, Jianjun , Balasubramanian, Sabapathy P. , Rafii, Saeed , Reed, Malcolm , Pooley, Karen A. , Conroy, Don, Baynes, Caroline, Kang, Daehee , Yoo, Keun-Young, Noh, Dong‐Young , Ahn, Sei-Hyun, Shen, Chen‐Yang , Wang, Hui‐Chun , Yu, Jyh-Cherng, Wu, Pei-Ei, Ziogoas, Argyrios, Egan, Kathleen M. , Titus‐Ernstoff, Linda, Dietz, Amy Trentham, Sigurdson, Alice J., Bhatti, Parveen , Allen‐Brady, Kristina , Cannon‐Albright, Lisa , Wong, Jathine , Group, Australian Ovarian Cancer Study, Chenevix‐Trench, Georgia , Spurdle, Amanda B. , Beesley, Jonathan, Easton, Doug , García‐Closas, Montserrat , Thorne, Heather , Li, Yuqing , Milne, Roger L. , Morrison, Jonathan J. , Couch, Fergus J. , Olson, Janet E. , Wang, Xianshu , Mannermaa, Arto, Arias, José Ignacio , Benı́tez, Javier , Bojesen, Stig E. , Nordestgaard, Børge G. , Flyger, Henrik, Broeks, Annegien , Marchand, Loı̈c Le , Kraft, Peter , Vreeswijk, Maaike P.G. , Devilee, Peter , Chanock, Stephen Jacob , Hall, Per N , Anton‐Culver, Hoda , Newcomb, Polly A. , Alexander, Bruce H. , Group, Australian Ovarian Cancer Study, Pharoah, Paul D.P. , Nevanlinna, H , Dörk, Thilo , Giles, Graham G , Spurdle, Amanda B , Lissowska, Jolanta , Southey, Melissa C , English, Dallas R , Cannon-Albright, Lisa A , Dunning, Alison M , Cox, Angela , Torres, Diana , García-Closas, Montserrat , Schmidt, Marjanka K , Severi, Gianluca , Ekici, Arif B , Bogdanova, Natalia V , Chenevix-Trench, Georgia , Bhatti, Parveen , Czene, Kamila , Rafii, Saeed , Baglietto, Laura , Fletcher, Olivia , Brauch, Hiltrud , Lindblom, Annika , Liu, Jing , Kang, Daehee
Cancer Epidemiology, Biomarkers & Prevention | May 7, 2009 | Volume: 18 | Issue: 5 | Pages: 1610-1616
Abstract Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361525, CASP10 rs13010627, PGR rs1042838, and BID rs8190315 may influence breast cancer risk, but the evidence is inconclusive due to their small sample size. These polymorphisms were genotyped in more than 30,000 breast cancer cases and 30,000 controls, primarily of European descent, from 30 studies in the Breast Cancer Association Consortium. We calculated odds ratios (OR) and 95% confidence intervals (95% CI) as a measure of association. We found that the minor alleles for these polymorphisms were not related to invasive breast cancer risk overall in women of European descent: ECCR4 per-allele OR (95% CI) = 0.99 (0.97-1.02), minor allele frequency = 27.5%; TNF 1.00 (0.95-1.06), 5.0%; CASP10 1.02 (0.98-1.07), 6.5%; PGR 1.02 (0.99-1.06), 15.3%; and BID 0.98 (0.86-1.12), 1.7%. However, we observed significant between-study heterogeneity for associations with risk for single-nucleotide polymorphisms (SNP) in CASP10, PGR, and BID. Estimates were imprecise for women of Asian and African descent due to small numbers and lower minor allele frequencies (with the exception of BID SNP). The ORs for each copy of the minor allele were not significantly different by estrogen or progesterone receptor status, nor were any significant interactions found between the polymorphisms and age or family history of breast cancer. In conclusion, our data provide persuasive evidence against an overall association between invasive breast cancer risk and ERCC4 rs744154, TNF rs361525, CASP10 rs13010627, PGR rs1042838, and BID rs8190315 genotypes among women of European descent. (Cancer Epidemiol Biomarkers Prev 2009;18(5):1610–6)