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Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression
Hatef Darabi, Karen McCue, Jonathan Beesley, Kyriaki Michailidou, Silje Nord, Siddhartha Kar, Keith Humphreys, Deborah Thompson, Maya Ghoussaini, Manjeet K. Bolla, Joe Dennis, Sander Canisius, Christopher G. Scott, Carmel Apicella, John L. Hopper, Melissa C. Southey, Jennifer Stone, Annegien Broeks, Marjanka K. Schmidt, Rodney J. Scott, Artitaya Lophatananon, Kenneth Muir, Matthias W. Beckmann, Arif B. Ekici, Peter A. Fasching, Katharina Heusinger, Isabel dos‐Santos‐Silva, Julian Peto, Ian Tomlinson, Elinor J. Sawyer, Barbara Burwinkel, Frederik Marmé, Pascal Guénel, Thérèse Truong, Stig E. Bojesen, Henrik Flyger, Javier Benı́tez, Anna González‐Neira, Hoda Anton‐Culver, Susan L. Neuhausen, Volker Arndt, Hermann Brenner, Christoph Engel, Alfons Meindl, Rita K. Schmutzler, Norbert Arnold, Hiltrud Brauch, Ute Hamann, Jenny Chang‐Claude, Sofia Khan, Heli Nevanlinna, Hidemi Ito, Keitaro Matsuo, Natalia Bogdanova, Thilo Dörk, Annika Lindblom, Sara Margolin, Veli‐Matti Kosma, Chiu-Chen Tseng, Anna H. Wu, Giuseppe Floris, Diether Lambrechts, Anja Rudolph, Paolo Peterlongo, Paolo Radice, Fergus J. Couch, Celine M. Vachon, Graham G. Giles, Catriona McLean, Roger L. Milne, Pierre‐Antoine Dugué, Christopher A. Haiman, Gertraud Maskarinec, Christy Woolcott, Brian E. Henderson, Mark S. Goldberg, Jacques Simard, Soo‐Hwang Teo, Shivaani Mariapun, Åslaug Helland, Vilde Drageset Haakensen, Wei Zheng, Alicia Beeghly‐Fadiel, Rulla M. Tamimi, Arja Jukkola‐Vuorinen, Robert Winqvist, Irene L. Andrulis, Julia A. Knight, Peter Devilee, Robert A.E.M. Tollenaar, Jonine D. Figueroa, Montserrat García‐Closas, Kamila Czene, Maartje J. Hooning, Madeleine M.A. Tilanus‐Linthorst, Jingmei Li, Yu‐Tang Gao, Xiao‐Ou Shu, Angela Cox, Simon S. Cross, Robert Luben, Kay‐Tee Khaw, Ji‐Yeob Choi, Daehee Kang, Mikael Hartman, Wei Yen Lim, Maria Kabisch, Diana Torres, Anna Jakubowska, Jan Lubiński, James McKay, Suleeporn Sangrajrang, Amanda E. Toland, Drakoulis Yannoukakos, Chen‐Yang Shen, Jyh‐Cherng Yu, Argyrios Ziogas, Minouk J. Schoemaker, Anthony J. Swerdlow, Anne‐Lise Børresen‐Dale, Vessela Kristensen, Juliet D. French, Stacey L. Edwards, Alison M. Dunning, Douglas F. Easton, Per Hall, Georgia Chenevix‐Trench
Bibliographic record
VenueThe American Journal of Human Genetics · 2015
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBreast Cancer Treatment Studies
Canadian institutionsPublic Health OntarioLunenfeld-Tanenbaum Research InstituteMount Sinai HospitalCentre hospitalier universitaire de QuébecMcGill UniversityMcGill University Health CentreUniversité LavalRoyal Victoria Regional Health CentreUniversity of TorontoRoyal Victoria HospitalDalhousie University
FundersNational Cancer InstituteNational Institute for Health and Care ResearchCancer Research UKWorld Health Organization
KeywordsBreast cancerSingle-nucleotide polymorphismSNPEstrogen receptorBiologyGenome-wide association studyGenotypingLocus (genetics)GeneticsGenetic associationCase-control studyEnhancerOncologyCancerInternal medicineMedicineGenotypeGeneGene expression
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)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.353
Threshold uncertainty score0.458
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| 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 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| 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 head0.012
GPT teacher head0.289
Teacher spread0.276 · 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.
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
Citations45
Published2015
Admission routes1
Has abstractno