Citations 4
Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
Peterlongo, Paolo , Chang-Claude, Jenny, Moysich, Kirsten B., Schmutzler, Rita K., Simard, Jacques , Soucy, Penny, Eeles, Rosalind A. , Easton, Douglas F. , Hamann, Ute, Wilkening, Stefan, Chen, Bowang , Rookus, Matti A. , Schmidt, Marjanka K. , Baan, Frederieke H. van der , Spurdle, Amanda B. , Walker, Logan C. , Lose, Felicity , Maia, Ana-Teresa , Montagna, Marco , Matricardi, Laura , Lubiński, Jan , Jakubowska, Anna , Gómez, E. , Olopade, Olufunmilayo I., Nathanson, Katherine L. , Rebbeck, Timothy R., Arun, Banu K., Karlan, Beth Y., Oršulić, Sandra , Lester, Jenny, Chung, Wendy K., Miron, Alex, Southey, Melissa C. , Goldgar, David E., Janavičius, Ramūnas , Dorfling, Cecilia M., Rensburg, Elizabeth J. van , Ding, Yuan Chun , Neuhausen, Susan L., Hansen, Thomas van Overeem , Gerdes, Anne‐Marie , Ejlertsen, Bent , Jønson, Lars, Osório, Ana , Martínez-Bouzas, Cristina, Benı́tez, Javier , Conway, Edye E., Blazer, Kathleen R. , Weitzel, Jeffrey N. , Manoukian, Siranoush , Peissel, Bernard , Zaffaroni, Daniela , Scuvera, Giulietta, Barile, Monica, Ficarazzi, Filomena , Mariette, Frédérique, Fortuzzi, Stefano , Viel, Alessandra , Giannini, Giuseppe , Papi, Laura , Martayan, Aline , Tibiletti, Maria Grazia , Radice, Paolo , Vratimos, Athanassios, Fostira, Florentia, Donaldson, Alan, Brewer, Carole, Foo, Claire, Evans, D. Gareth , Frost, Debra, Eccles, Diana , Brady, Angela, Adlard, Julian , Walker, Lisa, Izatt, Louise , Side, Lucy E., Rogers, Mark T., Porteous, Mary, Morrison, Patrick J., Platte, Radka, Davidson, Rosemarie, Hodgson, Shirley V. , Ellis, Steve, Cole, Trevor, EMBRACE, on behalf of, Claes, Kathleen , Maerken, Tom Van, Meindl, Alfons , Gehrig, Andrea, Sutter, Christian , Engel, Christoph , Niederacher, Dieter , Plendl, Hansjoerg, Kast, Karin, Rhiem, Kerstin, Ditsch, Nina , Varon-Mateeva, Raymonda, Wappenschmidt, Barbara , Wang-Gohrke, Shan, Paillerets, Brigitte Bressac–de , Buecher, Bruno , Delnatte, Capucine, Houdayer, Claude , Coupier, Isabelle, Barjhoux, Laure, Venat‐Bouvet, Laurence , Boutry‐Kryza, Nadia, Sinilnikova, Olga M., Caron, Olivier , Mazoyer, Sylvie , Belotti, Muriel, Collaborators, on behalf of GEMO Study, Piedmonte, Marion, Friedländer, Michael , Rodriguez, Gustavo C., Copeland, Larry J. , Hoya, Miguel de la , Segura, Pedro Pérez, Nevanlinna, Heli , Aittomäki, Kristiina, Os, Theo A.M. van, Meijers-Heijboer, Hanne E.J., Hout, Annemarie H. van der, Hoogerbrugge, Nicoline, Ausems, Margreet G.E.M. , Doorn, Helena C. van , Collée, Margriet , HEBON, on behalf of, Oláh, Edith , Dı́ez, Orland , Blanco, Ignacio , Lázaro, Conxi , Brunet, Joan , Feliubadaló, Lídia , Cybulski, Cezary, Durda, Katarzyna, Jaworska–Bieniek, Katarzyna, Sukiennicki, Grzegorz, Arason, Aðalgeir , Chiquette, Jocelyne , Teixeira, Manuel R. , Olswold, Curtis, Lindor, Noralane M. , Offit, Kenneth, Corines, Marina, Jacobs, Lauren , Robson, Mark E. , Zhang, Liying , Vijai, Joseph , Berger, Andreas, Singer, Christian F., Rappaport, Christine , Kaulich, Daphne Geschwantler, Pfeiler, Georg , Tea, Muy-Kheng M., Phelan, Catherine M., Greene, Mark H. , Mai, Phuong L., Rennert, Gad , Mulligan, Anna Marie , Glendon, Gord , Tchatchou, Sandrine, Andrulis, Irene L., Bojesen, Anders , Pedersen, Inge Søkilde , Thomassen, Mads , Jensen, Uffe Birk , Laitman, Yael , Rantala, Johanna, Wachenfeldt, Anna von , Ehrencrona, Hans , Askmalm, Marie Stenmark, Borg, Åke , Kuchenbaecker, Karoline B., McGuffog, Lesley, Barrowdale, Daniel , Healey, Sue, Lee, Andrew , Chenevix‐Trench, Georgia , Investigators, on behalf of KConFab, Antoniou, Antonis C. , Friedman, Eitan , Durocher, Francine , Olopade, Olufunmilayo I. , Hoogerbrugge, Nicoline , Thorne, Heather , Stenmark‐Askmalm, Marie , Wang, Xianshu , Chang‐Claude, Jenny, Moysich, Kirsten B. , Rudolph, Anja , Nussbaum, Robert L. , Domchek, Susan M. , Arun, Banu , By, Karlan, Chung, Wendy K. , Buys, Saundra S. , Garber, Judy E. , Cook, Jackie A , Tischkowitz, Marc D. , Barwell, Julian , Kennedy, Michael John , Ellis, Steve, EMBRACE, on behalf of, Godwin, Andrew K. , Meindl, Alfons , Steinemann, Doris , Arnold, Norbert , Wang-Gohrke, Shan, Stoppa‐Lyonnet, Dominique , Damiola, Francesca , Golmard, Lisa , Pujol, Pascal , Collaborators, on behalf of GEMO Study, Meijers‐Heijboer, Hanne , Vreeswijk, Maaike P.G. , Hoogerbrugge, Nicoline, HEBON, on behalf of, Gronwald, Jacek , Couch, Fergus J. , Szabo, Csilla I. , Singer, Christian F , Mai, Phuong L., Toland, Amanda Ewart , Pharoah, Paul D.P. , Investigators, on behalf of KConFab, Nevanlinna, H , Peterlongo, Paolo , Rennert, Gad , Spurdle, Amanda B , Teixeira, Manuel R , van Rensburg, Elizabeth J , Eccles, Diana , Moysich, Kirsten , de la Hoya, Miguel , Diez, Orland , Radice, Paolo , Weitzel, Jeffrey N , Claes, Kathleen B M , Adlard, Julian , Brunet, Joan , Eeles, Rosalind A , Ehrencrona, Hans , Evans, D Gareth , Joseph, Vijai , Matricardi, Laura , Olopade, Olufunmilayo I , Southey, Melissa C , Jakubowska, Anna , Schmidt, Marjanka K , Nathanson, Katherine L , Friedlander, Michael , Arason, Adalgeir , Barrowdale, Daniel , Benitez, Javier , Engel, Christoph , Lazaro, Conxi , Montagna, Marco , Robson, Mark , Viel, Alessandra , Simard, Jacques , Chenevix-Trench, Georgia , Feliubadaló, Lidia , Gómez-García, Encarna B , Hansen, Thomas van Overeem , Manoukian, Siranoush , Lubinski, Jan , Rhiem, Kerstin
Cancer Epidemiology, Biomarkers & Prevention | October 22, 2014 | Volume: 24 | Issue: 1 | Pages: 308-316
Abstract Background:BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carriers of the same mutation suggests the existence of genetic and nongenetic modifying factors. In this study, we evaluated the putative role of variants in many candidate modifier genes. Methods: Genotyping data from 15,252 BRCA1 and 8,211 BRCA2 mutation carriers, for known variants (n = 3,248) located within or around 445 candidate genes, were available through the iCOGS custom-designed array. Breast and ovarian cancer association analysis was performed within a retrospective cohort approach. Results: The observed P values of association ranged between 0.005 and 1.000. None of the variants was significantly associated with breast or ovarian cancer risk in either BRCA1 or BRCA2 mutation carriers, after multiple testing adjustments. Conclusion: There is little evidence that any of the evaluated candidate variants act as modifiers of breast and/or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers. Impact: Genome-wide association studies have been more successful at identifying genetic modifiers of BRCA1/2 penetrance than candidate gene studies. Cancer Epidemiol Biomarkers Prev; 24(1); 308–16. ©2014 AACR.
Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk
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. , Veer, Laura J. van’t , 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, Sawyer, Elinor J. , Cheng, Timothy, Tomlinson, Ian , Kerin, Michael J. , Miller, Nicola, Surowy, Harald , Burwinkel, Barbara , Guénel, Pascal , Truong, Thérèse , Ménégaux, F. , Mulot, Claire , Bojesen, Stig E. , Nordestgaard, Børge G. , Nielsen, Sune F. , Flyger, Henrik, Benı́tez, Javier , Zamora, M. Pilar , Pérez, José Ignacio Arias , Menéndez, Primitiva, González‐Neira, Anna , Pita, Guillermo , Alonso, M. Rosario, Álvarez, Núria, Herrero, Daniel, Brenner, Hermann , Dieffenbach, Aida Karina, Stegmaier, Christa, Meindl, Alfons , Lichtner, Peter , Schmutzler, Rita K., Müller‐Myhsok, Bertram , Brauch, Hiltrud , Brüning, Thomas , Ko, Yon‐Dschun, Network, The GENICA, Tessier, Daniel C., Vincent, Daniel , Bacot, François, Nevanlinna, Heli , Aittomäki, Kristiina, Blomqvist, Carl , Khan, Sofia , Matsuo, Keitaro , Iwata, Hiroji, Horio, Akiyo, Bogdanova, Natalia , Antonenkova, Natalia, Dörk, Thilo , Lindblom, Annika , Margolin, Sara , Mannermaa, Arto, Kataja, Vesa , Kosma, Veli‐Matti, Hartikainen, Jaana M. , Investigators, kConFab, Group, Australian Ovarian Cancer Study, Wu, Anna H. , Tseng, Chiu-Chen , Neven, Patrick , Wauters, Els , Wildiers, Hans , Lambrechts, Diether , Chang‐Claude, Jenny , Flesch‐Janys, Dieter, Radice, Paolo , Peterlongo, Paolo , Manoukian, Siranoush , Couch, Fergus J. , Vachon, Celine M. , Purrington, Kristen S. , Giles, Graham G. , McLean, Catriona , Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick R. , Simard, Jacques , Goldberg, Mark S. , Dumont, Martine , Teo, Soo‐Hwang , Yip, Cheng Har , Vithana, Eranga N. , Kristensen, Vessela N. , Deming-Halverson, Sandra, Shrubsole, Martha J. , Long, Jirong , Winqvist, Robert , Pylkäs, 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, García‐Closas, Montserrat , Figueroa, Jonine D. , Lissowska, Jolanta , Brinton, Louise A. , Czene, Kamila , Darabi, Hatef, Eriksson, Mikael , Brand, Judith S. , Hooning, Maartje J. , Hollestelle, Antoinette , Ouweland, Ans M.W. van den, Jager, Agnes , Li, Jingmei , Liu, Jianjun , Humphreys, Keith , Shu, Xiao‐Ou , Lu, Wei , Gao, Yu‐Tang , Cai, Hui , Cross, Simon S. , Reed, Malcolm , Blot, William J. , Signorello, Lisa B., Cai, Qiuyin, 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, Maranian, Mel, Healey, Catherine S., Jakubowska, Anna , Lubiński, Jan , Jaworska–Bieniek, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn , Gaborieau, Valérie , Brennan, Paul , McKay, James , Slager, Susan, Yannoukakos, Drakoulis , Hsiung, Chia‐Ni , Wu, Pei‐Ei , Ding, Shian-ling, Ashworth, Alan , Jones, Michael E. , Orr, Nick , Swerdlow, Anthony J. , Makalic, Enes , Bui, Minh , Hunter, David J. , Hein, Rebecca, Dahmen, Norbert, Beckmann, Lars , Aaltonen, Kirsimari, Muranen, Taru , Heikkinen, Tuomas , Irwanto, Astrid , Rahman, Nazneen , Turnbull, Clare , Study, The Breast and Ovarian Cancer Susceptibility (BOCS), Waisfisz, Quinten , Meijers‐Heijboer, Hanne , Adank, Muriel A. , Luijt, Rob B. van der , Chenevix‐Trench, Georgia , Dunning, Alison M. , Easton, Douglas F. , Cox, Angela , Durocher, Francine , Zheng, Wei , Thorne, Heather , Lambrechts, Diether , Vachon, Celine, Broeks, Annegien , Rutgers, Emiel J. , Wang, Qin, Dennis, Joe , Marmé, Frederik , Anton‐Culver, Hoda , Arndt, Volker , Meindl, Alfons , Network, The GENICA, Ito, Hidemi , Iwata, Hiroji , Mannermaa, Arto , Investigators, kConFab, Group, Australian Ovarian Cancer Study, Berg, David Van Den , Stram, Daniel O. , Rudolph, Anja , Seibold, Petra , Bonanni, Bernardo , Couch, Fergus J. , Wang, Xianshu , Vachon, Celine M. , Milne, Roger L. , Marchand, Loı̈c Le , Labrèche, France , Rudolph, Anja , Zheng, Wei , Asperen, Christi J. van , Eriksson, Mikael , Hooning, Maartje J. , Pharoah, Paul D.P. , Ahmed, Shahana , Toland, Amanda Ewart , Shen, Chen‐Yang , Tsimiklis, Helen , Schmidt, Daniel Frederick , Bui, Minh , Chanock, Stephen Jacob , Study, The Breast and Ovarian Cancer Susceptibility (BOCS), Hall, Per N , Nevanlinna, H , Dörk, Thilo , Lambrechts, Diether , Giles, Graham G , Peterlongo, Paolo , Teo, Soo H , Shrubsole, Martha J , Swerdlow, Anthony J , Radice, Paolo , Lissowska, Jolanta , Southey, Melissa C , van der Luijt, Rob B , Muir, Kenneth , Shu, Xiao-Ou , Matsuo, Keitaro , Dunning, Alison M , Jakubowska, Anna , Jones, Michael E , Lambrechts, Diether , Brenner, Hermann , Cox, Angela , Guénel, Pascal , Hartman, Mikael , Li, Jingmei , Muranen, Taru A , García-Closas, Montserrat , Schmidt, Marjanka K , Makalic, Enes , Ekici, Arif B , Michailidou, Kyriaki , Hartikainen, Jaana M , Bogdanova, Natalia V , Benitez, Javier , Simard, Jacques , Chenevix-Trench, Georgia , Zheng, Wei , Figueroa, Jonine D , Czene, Kamila , Stone, Jennifer , Pylkäs, Katri , Yannoukakos, Drakoulis , Devilee, Peter , Manoukian, Siranoush , Lubinski, Jan , Fletcher, Olivia , Bojesen, Stig E , Purrington, Kristen S , Truong, Therese , Wildiers, Hans , Mclean, Catriona , Brauch, Hiltrud , Lindblom, Annika , Sawyer, Elinor J , Orr, Nick , Liu, Jing , Kang, Daehee
Human Molecular Genetics | August 29, 2014 | Volume: 24 | Issue: 1 | Pages: 285-298
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)