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Human Molecular Genetics | August 29, 2014 | Volume: 24 | Issue: 1 | Pages: 285-298
Performance of automated scoring of ER, PR, HER2, CK5/6 and EGFR in breast cancer tissue microarrays in the Breast Cancer Association Consortium
Howat, William , Blows, Fiona M., Provenzano, Elena , Morris, Lorna , Johnson, Nicola, McDuffus, Leigh‐Anne, Miller, Jodi L. , Deurzen, Carolien H. M. van , Sironen, Reijo , Visscher, Daniel W., Daley, Frances , Coulson, Penny , Sanders, Joyce , Fagerholm, Rainer, Ali, H. Raza , Brinton, Louise A. , Mannermaa, Arto , Kosma, Veli‐Matti , Brock, Ian W., Couch, Fergus J. , Devillee, Peter, Mesker, Wilma E. , Seyaneve, Caroline M, Menéndez, Primitiva, Bolla, Manjeet K. , Easton, Douglas F. , Pharoah, Paul D.P., Sherman, Mark E., Brook, Mark N. , Gazińska, Patrycja , Sawyer, Elinor J. , Pinder, Sarah E. , Jones, J. Louise , Caldas, Carlos , Broeks, Annegien , Wesseling, Jelle , Nevanlinna, Heli , Blomqvist, Carl , Heikkilä, Päivi , Dawson, Sarah‐Jane , Figueroa, Jonine D. , Lissowska, Jolanta , Kataja, Vesa , Cox, Angela , Cross, Simon S. , Reed, Malcolm , Couch, Fergus J. , Olson, Janet E. , Hollestelle, Antoinette , Benı́tez, Javier , Pérez, José Ignacio Arias , Schmidt, Marjanka K. , García‐Closas, Montserrat
The Clinical Journal of Pathology | June 25, 2014 | Volume: No volume available | Issue: No issue available | Pages: n/a-n/a
DNA mismatch repair gene MSH6 implicated in determining age at natural menopause
Perry, John R. B. , Hsu, Yi-Hsiang, Johnson, Andrew D. , Elks, Cathy E., Albrecht, Eva, Andrulis, Irene L. , Berenson, Gerald S., Bojesen, Stig E. , Bolla, Manjeet K. , Brown, Judith, Buring, Julie E. , Campbell, Harry, Chang‐Claude, Jenny , Chenevix‐Trench, Georgia , Corre, Tanguy , Cox, Angela , Czene, Kamila , D’Adamo, Pio , Davies, Gail , Deary, Ian J. , Easton, Douglas F. , Engelhardt, Ellen G. , Eriksson, Johan G. , Fasching, Peter A. , Figueroa, Jonine D. , Flyger, Henrik, Fraser, Abigail , García‐Closas, Montserrat , Gasparini, Paolo , Gieger, Christian , Giles, Graham G. , Guénel, Pascal , Hägg, Sara , Hayward, Caroline , Hopper, John L. , investigators, kConFab, Kardia, Sharon L. R., Kasiman, Katherine, Knight, Julia A. , Lahti, Jari , Lawlor, Debbie A. , Magnusson, Patrik K. E. , Margolin, Sara , Marsh, Julie , Polašek, Ozren , Rahman, Iffat , Ridker, Paul M., Robino, Antonietta , Rudan, Igor , Salumets, Andres , Schmidt, Marjanka K. , Schoemaker, Minouk J. , Smith, Erin N. , Smith, Jennifer A. , Southey, Melissa C. , Stöckl, Doris, Swerdlow, Anthony J. , Thompson, Deborah J. , Truong, Thérèse , Ulivi, Sheila , Waldenberger, Mélanie , Wang, Qin , Wright, Alan F., Zgaga, Lina , Karasik, David , Murray, Anna , Uitterlinden, André G. , Hsu, Yi‐Hsiang , Chasman, Daniel I. , Beesley, Jonathan , Bergmann, Sven M. , Couch, Fergus J. , Dennis, Joe , Esko, Tõnu , Hall, Per N , Ingelsson, Erik , investigators, kConFab, Metspalu, Andres , Olson, Janet E. , Pennell, Craig Edward , Rudolph, Anja , Wild, Sarah H. , Wilson, James Fox , Ong, Ken K. , Murabito, Joanne M. , Giles, Graham G , Swerdlow, Anthony J , Smith, Jennifer A , Southey, Melissa C , Cox, Angela , Guénel, Pascal , García-Closas, Montserrat , Schmidt, Marjanka K , Chenevix-Trench, Georgia , Figueroa, Jonine D , Czene, Kamila , Bojesen, Stig E , Schoemaker, Minouk J , Truong, Therese
Human Molecular Genetics | December 20, 2013 | Volume: 23 | Issue: 9 | Pages: 2490-2497
A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46 450 cases and 42 461 controls from the breast cancer association consortium
Herránz, Jesús , Michailidou, Kyriaki , Zamora, M. Pilar , Pérez, José Ignacio Arias , González‐Neira, Anna , Pita, Guillermo , Alonso, M. Rosario, Wang, Qin , Bolla, Manjeet K. , Czene, Kamila , Eriksson, Mikael , Humphreys, Keith , Darabi, Hatef, Li, Jingmei , Hopper, John L. , Apicella, Carmel, Southey, Melissa C. , Chenevix‐Trench, Georgia , Investigators, kConFab, Group, Australian Ovarian Cancer Study, Swerdlow, Anthony J. , Ashworth, Alan , Orr, Nicholas, Schoemaker, Minouk J. , Jakubowska, Anna , Lubiński, Jan , Jaworska–Bieniek, Katarzyna, Durda, Katarzyna, Andrulis, Irene L. , Knight, Julia A. , Glendon, Gord, Mulligan, Anna Marie , Bojesen, Stig E. , Nordestgaard, Børge G. , Flyger, Henrik, Nevanlinna, Heli , Muranen, Taru , Aittomäki, Kristiina, Blomqvist, Carl , Chang‐Claude, Jenny , Flesch‐Janys, Dieter, Vachon, Celine M. , Purrington, Kristen S. , Winqvist, Robert , Pylkäs, Katri , Jukkola‐Vuorinen, Arja , Grip, Mervi, Dunning, Alison M. , Shah, Mitul , Guénel, Pascal , Truong, Thérèse , Sanchez, Marie, Mulot, Claire , Brenner, Hermann , Dieffenbach, Aida Karina, Stegmaier, Christa, Lindblom, Annika , Margolin, Sara , Hooning, Maartje J. , Hollestelle, Antoinette , Collée, J. Margriet, Jager, Agnes , Cox, Angela , Brock, Ian W., Reed, Malcolm , Devilee, Peter , Tollenaar, Robert A.E.M., Seynaeve, Caroline, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick R. , Simard, Jacques , Dumont, Martine , Soucy, Penny, Dörk, Thilo , Bogdanova, Natalia , Hamann, Ute , Rüdiger, Thomas , Ulmer, Hans-Ulrich, Fasching, Peter A. , Häberle, Lothar , Ekici, Arif B. , Beckmann, Matthias W. , Fletcher, Olivia , Johnson, Nichola , dos‐Santos‐Silva, Isabel , Peto, Julian, Radice, Paolo , Peterlongo, Paolo , Peissel, Bernard , Mariani, P., Severi, Gianluca , Baglietto, Laura , Sawyer, Elinor J. , Tomlinson, Ian , Kerin, Michael J. , Miller, Nicola, Marmé, F., Burwinkel, Barbara , Mannermaa, Arto, Kataja, Vesa , Kosma, Veli‐Matti , Hartikainen, Jaana M. , Lambrechts, Diether , Yesilyurt, Betül T., Floris, Giuseppe , Leunen, Karin, Alnæs, Grethe Grenaker, Kristensen, Vessela N. , Børresen‐Dale, Anne‐Lise , García‐Closas, Montserrat , Lissowska, Jolanta , Figueroa, Jonine D. , Schmidt, Marjanka K. , Verhoef, Senno, Rutgers, Emiel J. , Brauch, Hiltrud , Brüning, Thomas , Ko, Yon‐Dschun, Network, The GENICA, TNBCC, The, Yannoukakos, Drakoulis , Malats, Núria , Easton, Douglas F. , Manoukian, Siranoush , Durocher, Francine , Zaffaroni, Daniela , Orr, Nick , Thorne, Heather , Bowtell, David D.L. , Rabstein, Sylvia , Lotz, Anne , Lambrechts, Diether , Milne, Roger L. , Dennis, Joe , Tyrer, Jonathan P. , Eriksson, Mikael , Anton‐Culver, Hoda , Neuhausen, Susan L. , Ziogas, Argyrios , Clarke, Christina A. , Dite, Gillian S. , Investigators, kConFab, Group, Australian Ovarian Cancer Study, Orr, Nicholas, Rudolph, Anja , Seibold, Petra , Wang, Xianshu , Olson, Janet E. , Vachon, Celine M. , Sanchez, Marie, Arndt, Volker , Hooning, Maartje J. , Marchand, Loı̈c Le , Försti, Asta , Giles, Graham G. , Mannermaa, Arto, Chanock, Stephen Jacob , Broeks, Annegien , Network, The GENICA, Couch, Fergus J. , Toland, Amanda Ewart , TNBCC, The, Pharoah, Paul D.P. , Hall, Per N , Benı́tez, Javier , Nevanlinna, H , Dörk, Thilo , Lambrechts, Diether , Peterlongo, Paolo , Swerdlow, Anthony J , Radice, Paolo , Lissowska, Jolanta , Southey, Melissa C , Malats, Nuria , Dunning, Alison M , Jakubowska, Anna , Lambrechts, Diether , Brenner, Hermann , Cox, Angela , Guénel, Pascal , Li, Jingmei , Muranen, Taru A , García-Closas, Montserrat , Schmidt, Marjanka K , Severi, Gianluca , Ekici, Arif B , Michailidou, Kyriaki , Hartikainen, Jaana M , Bogdanova, Natalia V , Simard, Jacques , Chenevix-Trench, Georgia , Figueroa, Jonine D , Czene, Kamila , Bowtell, David D , Pylkäs, Katri , Yannoukakos, Drakoulis , Devilee, Peter , Manoukian, Siranoush , Lubinski, Jan , Baglietto, Laura , Fletcher, Olivia , Bojesen, Stig E , Purrington, Kristen S , Schoemaker, Minouk J , Truong, Therese , Brauch, Hiltrud , Lindblom, Annika , Sawyer, Elinor J , Orr, Nick
Human Molecular Genetics | November 16, 2013 | Volume: 23 | Issue: 7 | Pages: 1934-1946
Abstract Part of the substantial unexplained familial aggregation of breast cancer may be due to interactions between common variants, but few studies have had adequate statistical power to detect interactions of realistic magnitude. We aimed to assess all two-way interactions in breast cancer susceptibility between 70 917 single nucleotide polymorphisms (SNPs) selected primarily based on prior evidence of a marginal effect. Thirty-eight international studies contributed data for 46 450 breast cancer cases and 42 461 controls of European origin as part of a multi-consortium project (COGS). First, SNPs were preselected based on evidence (P < 0.01) of a per-allele main effect, and all two-way combinations of those were evaluated by a per-allele (1 d.f.) test for interaction using logistic regression. Second, all 2.5 billion possible two-SNP combinations were evaluated using Boolean operation-based screening and testing, and SNP pairs with the strongest evidence of interaction (P < 10−4) were selected for more careful assessment by logistic regression. Under the first approach, 3277 SNPs were preselected, but an evaluation of all possible two-SNP combinations (1 d.f.) identified no interactions at P < 10−8. Results from the second analytic approach were consistent with those from the first (P > 10−10). In summary, we observed little evidence of two-way SNP interactions in breast cancer susceptibility, despite the large number of SNPs with potential marginal effects considered and the very large sample size. This finding may have important implications for risk prediction, simplifying the modelling required. Further comprehensive, large-scale genome-wide interaction studies may identify novel interacting loci if the inherent logistic and computational challenges can be overcome.