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Large-scale genotyping identifies 41 new loci associated with breast cancer risk
Kyriaki Michailidou, Per Hall, Anna González‐Neira, Maya Ghoussaini, Joe Dennis, Roger L. Milne, Marjanka K. Schmidt, Jenny Chang‐Claude, Stig E. Bojesen, Manjeet K. Bolla, Qin Wang, Ed Dicks, Andrew Lee, Clare Turnbull, Nazneen Rahman, Olivia Fletcher, Julian Peto, Lorna J. Gibson, Isabel dos‐Santos‐Silva, Heli Nevanlinna, Taru Muranen, Kristiina Aittomäki, Carl Blomqvist, Kamila Czene, Astrid Irwanto, Jianjun Liu, Quinten Waisfisz, Hanne Meijers‐Heijboer, Muriel A. Adank, Rob B. van der Luijt, Rebecca Hein, Norbert Dahmen, L. Beckman, Alfons Meindl, Rita K. Schmutzler, Bertram Müller‐Myhsok, Peter Lichtner, John L. Hopper, Melissa C. Southey, Enes Makalic, Daniel F. Schmidt, André G. Uitterlinden, Albert Hofman, David J. Hunter, Stephen J. Chanock, Daniel Vincent, François Bacot, Daniel C. Tessier, Sander Canisius, Lodewyk F.A. Wessels, Christopher A. Haiman, Mitul Shah, Robert Luben, Judith Brown, Craig Luccarini, Nils Schoof, Keith Humphreys, Jingmei Li, Børge G. Nordestgaard, Sune F. Nielsen, Henrik Flyger, Fergus J. Couch, Xianshu Wang, Celine M. Vachon, Kristen N. Stevens, Diether Lambrechts, Matthieu Moisse, Robert Paridaens, Marie‐Rose Christiaens, Anja Rudolph, Stefan Nickels, Dieter Flesch‐Janys, Nichola Johnson, Zoe Aitken, Kirsimari Aaltonen, Tuomas Heikkinen, Annegien Broeks, Laura J. van’t Veer, C. Ellen van der Schoot, Pascal Guénel, Thérèse Truong, Pierre Laurent‐Puig, F. Ménégaux, Frederik Marmé, Andreas Schneeweiß, Christof Sohn, Barbara Burwinkel, M. Pilar Zamora, José Ignacio Arias Pérez, Guillermo Pita, M. Rosario Alonso, Angela Cox, Ian W. Brock, Simon S. Cross, Malcolm Reed, Elinor J. Sawyer, Ian Tomlinson, Michael J. Kerin, Nicola Miller, Brian E. Henderson, Fredrick R. Schumacher, Loı̈c Le Marchand, Irene L. Andrulis, Julia A. Knight, Gord Glendon, Anna Marie Mulligan, Annika Lindblom, Sara Margolin, Maartje J. Hooning, Antoinette Hollestelle, Ans M.W. van den Ouweland, Agnes Jager, Minh Bui, Jennifer Stone, Gillian S. Dite, Carmel Apicella, Helen Tsimiklis, Graham G. Giles, Gianluca Severi, Laura Baglietto, Peter A. Fasching, Lothar Haeberle, Arif B. Ekici, Matthias W. Beckmann, Hermann Brenner, Heiko Müller, Volker Arndt, Christa Stegmaier, Anthony J. Swerdlow, Alan Ashworth, Nick Orr, Michael E. Jones, Jonine D. Figueroa, Jolanta Lissowska, Louise A. Brinton, Mark S. Goldberg, France Labrèche, Martine Dumont, Robert Winqvist, Katri Pylkäs, Arja Jukkola‐Vuorinen, Mervi Grip, Hiltrud Brauch, Ute Hamann, Thomas Brüning, Paolo Radice, Paolo Peterlongo, Siranoush Manoukian, Bernardo Bonanni, Peter Devilee, Rob A.�E.�M. Tollenaar, Caroline Seynaeve, Christi J. van Asperen, Anna Jakubowska, Jan Lubiński, Katarzyna Jaworska, Katarzyna Durda, Vesa Kataja, Veli-Matti Kosma, Jaana M. Hartikainen, Natalia Bogdanova, Natalia Antonenkova, Thilo Dörk, Vessela N. Kristensen, Hoda Anton‐Culver, Susan Slager, Amanda E. Toland, Stephen B. Edge, Florentia Fostira, Daehee Kang, Keun-Young Yoo, Dong‐Young Noh, Keitaro Matsuo, Hidemi Ito, Hiroji Iwata, Aiko Sueta, Anna H. Wu, Chiu-Chen Tseng, David Van Den Berg, Daniel O. Stram, Xiao‐Ou Shu, Wei Lu, Yu-Tang Gao, Hui Cai, Soo‐Hwang Teo, Cheng Har Yip, Sze Yee Phuah, Belinda K. Cornes, Mikael Hartman, Hui Miao, Wei Yen Lim, Jen-Hwei Sng, Kenneth Muir, Artitaya Lophatananon, Sarah Stewart‐Brown, Pornthep Siriwanarangsan, Chen‐Yang Shen, Chia-Ni Hsiung, Pei-Ei Wu, Shian-ling Ding, Suleeporn Sangrajrang, Valérie Gaborieau, Paul Brennan, James McKay, William J. Blot, Lisa B. Signorello, Qiuyin Cai, Wei Zheng, Sandra Deming-Halverson, Martha J. Shrubsole, Jirong Long, Jacques Simard, Montserrat García‐Closas, Paul D.P. Pharoah, Georgia Chenevix‐Trench, Alison M. Dunning, Javier Benı́tez, Douglas F. Easton
Bibliographic record
VenueNature Genetics · 2013
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsRoyal Victoria HospitalCentre hospitalier universitaire de QuébecRoyal Victoria Regional Health CentreUniversité LavalUniversité de MontréalMcGill University Health CentreMcGill UniversityLunenfeld-Tanenbaum Research InstituteMount Sinai HospitalMcGill University and Génome Québec Innovation CentrePublic Health OntarioUniversity Health NetworkUniversity of Toronto
FundersCanadian Institutes of Health ResearchNational Cancer InstituteNational Institute for Health and Care ResearchCancer Research UK
KeywordsBiologyGenotypingBreast cancerGeneticsScale (ratio)Computational biologyCancerGenotypeGene
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 machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.004
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.003
Threshold uncertainty score0.009
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.004 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
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 head0.005
GPT teacher head0.244
Teacher spread0.239 · 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 source (direct Gemma or distilled Codex), not a consensus.
The models applied no category: nothing in the taxonomy fit this work.
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
Citations1,105
Published2013
Admission routes2
Has abstractno