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Genome-wide association studies identify four ER negative–specific breast cancer risk loci
Montserrat García‐Closas, Fergus J. Couch, Sara Lindström, Kyriaki Michailidou, Marjanka K. Schmidt, Mark N. Brook, Nick Orr, Suhn K. Rhie, Elio Ríboli, Heather Spencer Feigelson, Loı̈c Le Marchand, Julie E. Buring, Diana Eccles, Penelope Miron, Peter A. Fasching, Hiltrud Brauch, Jenny Chang‐Claude, Jane Carpenter, Andrew K. Godwin, Heli Nevanlinna, Graham G. Giles, Angela Cox, John L. Hopper, Manjeet K. Bolla, Qin Wang, Joe Dennis, Ed Dicks, Will J Howat, Nils Schoof, Stig E. Bojesen, Diether Lambrechts, Annegien Broeks, Irene L. Andrulis, Pascal Guénel, Barbara Burwinkel, Elinor J. Sawyer, Antoinette Hollestelle, Olivia Fletcher, Robert Winqvist, Hermann Brenner, Ute Hamann, Alfons Meindl, Annika Lindblom, Wei Zheng, Peter Devillee, Mark S. Goldberg, Jan Lubiński, Vessela N. Kristensen, Anthony J. Swerdlow, Hoda Anton‐Culver, Thilo Dörk, Kenneth Muir, Keitaro Matsuo, Anna H. Wu, Paolo Radice, Soo‐Hwang Teo, Xiao‐Ou Shu, William J. Blot, Daehee Kang, Mikael Hartman, Suleeporn Sangrajrang, Chen‐Yang Shen, Melissa C. Southey, Daniel J. Park, Fleur Hammet, Jennifer Stone, Laura J. van’t Veer, Emiel J. Rutgers, Artitaya Lophatananon, Sarah Stewart‐Brown, Pornthep Siriwanarangsan, Julian Peto, Michael Schrauder, Arif B. Ekici, Matthias W. Beckmann, Isabel dos‐Santos‐Silva, Nichola Johnson, Helen R. Warren, Ian Tomlinson, Michael J. Kerin, Nicola Miller, F Marmé, Andreas Schneeweiß, Christof Sohn, Thérèse Truong, Pierre Laurent‐Puig, Pierre Kerbrat, Børge G. Nordestgaard, Sune F. Nielsen, Henrik Flyger, Roger L. Milne, José Ignacio Arias Pérez, Primitiva Menéndez, Heiko Müller, Volker Arndt, Christa Stegmaier, Peter Lichtner, Magdalena Lochmann, Christina Justenhoven, Yon‐Dschun Ko, Taru Muranen, Kristiina Aittomäki, Carl Blomqvist, Dario Greco, Tuomas Heikkinen, Hidemi Ito, Hiroji Iwata, Yasushi Yatabe, Natalia Antonenkova, Sara Margolin, Vesa Kataja, Veli-Matti Kosma, Jaana M. Hartikainen, Rosemary L. Balleine, Chiu-Chen Tseng, David Van Den Berg, Daniel O. Stram, Patrick Neven, Anne-Sophie Dieudonné, Karin Leunen, Anja Rudolph, Stefan Nickels, Dieter Flesch‐Janys, Paolo Peterlongo, Bernard Peissel, Loris Bernard, Janet E. Olson, Xianshu Wang, Kristen N. Stevens, Gianluca Severi, Laura Baglietto, Catriona McLean, Gerhard A. Coetzee, Ye Feng, Brian E. Henderson, Fredrick R. Schumacher, Natalia Bogdanova, France Labrèche, Martine Dumont, Cheng Har Yip, Nur Aishah Mohd Taib, Ching‐Yu Cheng, Martha J. Shrubsole, Jirong Long, Katri Pylkäs, Arja Jukkola‐Vuorinen, Saila Kauppila, Julia A. Knight, Gord Glendon, Anna Marie Mulligan, R.A.E.M. Tollenaar, Caroline Seynaeve, Mieke Kriege, Maartje J. Hooning, Ans M.W. van den Ouweland, Carolien H. M. van Deurzen, Wei Lu, Yu-Tang Gao, Hui Cai, Sabapathy P. Balasubramanian, Simon S. Cross, Malcolm Reed, Lisa B. Signorello, Qiuyin Cai, Mitul Shah, Hui Miao, Ching Wan Chan, Kee Seng Chia, Anna Jakubowska, Katarzyna Jaworska, Katarzyna Durda, Chia-Ni Hsiung, Pei-Ei Wu, Jyh-Cherng Yu, Alan Ashworth, Michael E. Jones, Daniel C. Tessier, Anna González‐Neira, Guillermo Pita, M. Rosario Alonso, Daniel Vincent, François Bacot, Christine B. Ambrosone, Elisa V. Bandera, Esther M. John, Gary K. Chen, Jennifer J. Hu, Jorge L. Rodriguez‐Gil, Leslie Bernstein, Michael F. Press, Regina G. Ziegler, Robert Millikan, Sandra Deming-Halverson, Sarah J. Nyante, Sue A. Ingles, Quinten Waisfisz, Helen Tsimiklis, Enes Makalic, Daniel F. Schmidt, Minh Bui, Lorna J. Gibson, Bertram Müller‐Myhsok, Rita K. Schmutzler, Rebecca Hein, Norbert Dahmen, Lars Beckmann, Kirsimari Aaltonen, Kamila Czene, Astrid Irwanto, Jianjun Liu, Clare Turnbull, Nazneen Rahman, Hanne Meijers‐Heijboer, André G. Uitterlinden, Fernando Rivadeneira, Curtis Olswold, Susan Slager, Robert Pilarski, Foluso O. Ademuyiwa, Irene Konstantopoulou, Nicholas G. Martin, Grant W. Montgomery, Dennis J. Slamon, Claudia Rauh, Michael P. Lux, Sebastian M. Jud, Thomas Brüning, JoEllen Weaver, Priyanka Sharma, Harsh B. Pathak, William Tapper, Sue Gerty, Lorraine Durcan, Dimitrios Trichopoulos, Rosario Tumino, Petra H. Peeters, Rudolf Kaaks, Daniele Campa, Federico Canzian, Elisabete Weiderpass, Mattias Johansson, Kay‐Tee Khaw, Ruth C. Travis, Françoise Clavel‐Chapelon, Laurence N. Kolonel, Constance Chen, Andy Beck, Susan E. Hankinson, Christine D. Berg, Robert N. Hoover, Jolanta Lissowska, Jonine D. Figueroa, Daniel I. Chasman, Mia M. Gaudet, W. Ryan Diver, Walter C. Willett, David J. Hunter, Jacques Simard, Javier Benı́tez, Alison M. Dunning, Mark E. Sherman, Georgia Chenevix‐Trench, Stephen J. Chanock, Per Hall, Paul D.P. Pharoah, Celine M. Vachon, Douglas F. Easton, Christopher A. Haiman, Peter Kraft
Bibliographic record
VenueNature Genetics · 2013
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsMcGill University and Génome Québec Innovation CentreSt. Michael's HospitalPublic Health OntarioRoyal Victoria HospitalCentre hospitalier universitaire de QuébecMcGill University Health CentreMcGill UniversityUniversité LavalUniversité de MontréalRoyal Victoria Regional Health CentreLunenfeld-Tanenbaum Research InstituteMount Sinai HospitalUniversity of Toronto
FundersCanadian Institutes of Health ResearchNational Cancer InstituteNational Institute for Health and Care ResearchCancer Research UKWellcome Trust
KeywordsBiologyGenome-wide association studyBreast cancerGeneticsGenetic associationComputational biologySingle-nucleotide polymorphismGeneCancerGenotype
Abstract
No abstract in any covered source. Its absence is recorded, not treated as a negative.
No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.
How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.097
Threshold uncertainty score1.000
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
Opus teacher head0.013
GPT teacher head0.288
Teacher spread0.275 · how far apart the two teachers sit on this one work
Validation status
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
Study designObservational
Domainnot available
GenreEmpirical
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".
Quick stats
Citations421
Published2013
Admission routes2
Has abstractno