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Functional Variants at the 11q13 Risk Locus for Breast Cancer Regulate Cyclin D1 Expression through Long-Range Enhancers
Juliet D. French, Maya Ghoussaini, Stacey L. Edwards, Kerstin B. Meyer, Kyriaki Michailidou, Shahana Ahmed, Sofia Khan, Mel Maranian, Martin O’Reilly, Kristine M. Hillman, Joshua A. Betts, Thomas Carroll, Peter J. Bailey, Ed Dicks, Jonathan Beesley, Jonathan P. Tyrer, Ana-Teresa Maia, Andrew Beck, Nicholas Knoblauch, Constance Chen, Peter Kraft, Daniel R. Barnes, Anna González‐Neira, M. Rosario Alonso, Daniel Herrero, Daniel C. Tessier, Daniel Vincent, François Bacot, Craig Luccarini, Caroline Baynes, Don Conroy, Joe Dennis, Manjeet K. Bolla, Qin Wang, John L. Hopper, Melissa C. Southey, Marjanka K. Schmidt, Annegien Broeks, Senno Verhoef, Sten Cornelissen, Kenneth Muir, Artitaya Lophatananon, Sarah Stewart‐Brown, Pornthep Siriwanarangsan, Peter A. Fasching, Christian R. Loehberg, Arif B. Ekici, Matthias W. Beckmann, Julian Peto, Isabel dos‐Santos‐Silva, Nichola Johnson, Zoe Aitken, Elinor J. Sawyer, Ian Tomlinson, Michael J. Kerin, Nicola Miller, Frederik Marmé, Andreas Schneeweiß, Christof Sohn, Barbara Burwinkel, Pascal Guénel, Thérèse Truong, Pierre Laurent‐Puig, F. Ménégaux, Stig E. Bojesen, Børge G. Nordestgaard, Sune F. Nielsen, Henrik Flyger, Roger L. Milne, M. Pilar Zamora, Javier Benı́tez, Hoda Anton‐Culver, Hermann Brenner, Heiko Müller, Volker Arndt, Christa Stegmaier, Alfons Meindl, Peter Lichtner, Rita K. Schmutzler, Christoph Engel, Hiltrud Brauch, Ute Hamann, Christina Justenhoven, Kirsimari Aaltonen, Päivi Heikkilä, Kristiina Aittomäki, Carl Blomqvist, Keitaro Matsuo, Hidemi Ito, Hiroji Iwata, Aiko Sueta, Natalia Bogdanova, Natalia Antonenkova, Thilo Dörk, Annika Lindblom, Sara Margolin, Vesa Kataja, Veli-Matti Kosma, Jaana M. Hartikainen, Anna H. Wu, Chiu-Chen Tseng, David Van Den Berg, Daniel O. Stram, Diether Lambrechts, Stéphanie Peeters, Ann Smeets, Giuseppe Floris, Jenny Chang‐Claude, Anja Rudolph, Stefan Nickels, Dieter Flesch‐Janys, Paolo Radice, Paolo Peterlongo, Bernardo Bonanni, Domenico Sardella, Fergus J. Couch, Xianshu Wang, V. Shane Pankratz, Adam F. Lee, Graham G. Giles, Gianluca Severi, Laura Baglietto, Christopher A. Haiman, Brian E. Henderson, Fredrick R. Schumacher, Loı̈c Le Marchand, Jacques Simard, Mark S. Goldberg, France Labrèche, Martine Dumont, Soo‐Hwang Teo, Cheng Har Yip, Char-Hong Ng, Eranga N. Vithana, Vessela Kristensen, Wei Zheng, Sandra Deming-Halverson, Martha J. Shrubsole, Jirong Long, Robert Winqvist, Katri Pylkäs, Arja Jukkola‐Vuorinen, Mervi Grip, Irene L. Andrulis, Julia A. Knight, Gord Glendon, Anna Marie Mulligan, Peter Devilee, Caroline Seynaeve, Montserrat García‐Closas, Jonine D. Figueroa, Stephen J. Chanock, Jolanta Lissowska, Kamila Czene, Daniel Klevebring, Nils Schoof, Maartje J. Hooning, John W.M. Martens, J. Margriet Collée, Madeleine M.A. Tilanus‐Linthorst, Per Hall, Jingmei Li, Jianjun Liu, Keith Humphreys, Xiao‐Ou Shu, Wei Lü, Yu-Tang Gao, Hui Cai, Angela Cox, Sabapathy P. Balasubramanian, William J. Blot, Lisa B. Signorello, Qiuyin Cai, Paul D.P. Pharoah, Catherine S. Healey, Mitul Shah, Karen A. Pooley, Daehee Kang, Keun-Young Yoo, Dong‐Young Noh, Mikael Hartman, Hui Miao, Jen-Hwei Sng, Xueling Sim, Anna Jakubowska, Jan Lubiński, Katarzyna Jaworska–Bieniek, Katarzyna Durda, Suleeporn Sangrajrang, Valérie Gaborieau, James McKay, Amanda E. Toland, Christine B. Ambrosone, Drakoulis Yannoukakos, Andrew K. Godwin, Chen‐Yang Shen, Chia-Ni Hsiung, Pei-Ei Wu, Shou-Tung Chen, Anthony J. Swerdlow, Alan Ashworth, Nick Orr, Minouk J. Schoemaker, Bruce A.J. Ponder, Heli Nevanlinna, Melissa A. Brown, Georgia Chenevix‐Trench, Douglas F. Easton, Alison M. Dunning
Bibliographic record
VenueThe American Journal of Human Genetics · 2013
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Chromatin Dynamics
Canadian institutionsUniversity Health NetworkPublic Health OntarioLunenfeld-Tanenbaum Research InstituteMount Sinai HospitalUniversity of TorontoCentre hospitalier universitaire de QuébecRoyal Victoria HospitalMcGill UniversityMcGill University Health CentreUniversité de MontréalUniversité LavalRoyal Victoria Regional Health CentreMcGill University and Génome Québec Innovation Centre
FundersNational Cancer InstituteNational Institute for Health and Care ResearchCancer Research UK
KeywordsEnhancerBiologyChromatinTranscription factorEstrogen receptorLocus (genetics)Cancer researchEstrogen receptor alphaCyclin D1GeneticsBreast cancerGeneCancerCell cycle
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)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.004
Threshold uncertainty score0.014
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 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 head0.008
GPT teacher head0.251
Teacher spread0.242 · 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 designBench or experimental
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
Citations214
Published2013
Admission routes1
Has abstractno