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Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation
Maya Ghoussaini, Stacey L. Edwards, Kyriaki Michailidou, Silje Nord, Richard Cowper‐Sal·lari, Kinjal Desai, Siddhartha Kar, Kristine M. Hillman, Susanne Kaufmann, Dylan M. Glubb, Jonathan Beesley, Joe Dennis, Manjeet K. Bolla, Qin Wang, Ed Dicks, Qi Guo, Marjanka K. Schmidt, Mitul Shah, Robert Luben, Judith Brown, Kamila Czene, Hatef Darabi, Mikael Eriksson, Daniel Klevebring, Stig E. Bojesen, Børge G. Nordestgaard, Sune F. Nielsen, Henrik Flyger, Diether Lambrechts, Bernard Thienpont, Patrick Neven, Hans Wildiers, Annegien Broeks, Laura J. van’t Veer, Emiel J. Rutgers, Fergus J. Couch, Janet E. Olson, Emily Hallberg, Celine M. Vachon, Jenny Chang‐Claude, Anja Rudolph, Petra Seibold, Dieter Flesch‐Janys, Julian Peto, Isabel dos‐Santos‐Silva, Lorna J. Gibson, Heli Nevanlinna, Taru Muranen, Kristiina Aittomäki, Carl Blomqvist, Per Hall, Jingmei Li, Jianjun Liu, Keith Humphreys, Daehee Kang, Ji‐Yeob Choi, Sue K. Park, Dong‐Young Noh, Keitaro Matsuo, Hidemi Ito, Hiroji Iwata, Yasushi Yatabe, Pascal Guénel, Thérèse Truong, F. Ménégaux, Barbara Burwinkel, Frederik Marmé, Andreas Schneeweiß, Christof Sohn, Anna H. Wu, Chiu-Chen Tseng, David Van Den Berg, Daniel O. Stram, Javier Benı́tez, M. Pilar Zamora, José Ignacio Arias Pérez, Primitiva Menéndez, Xiao‐Ou Shu, Wei Lu, Yu-Tang Gao, Qiuyin Cai, Angela Cox, Simon S. Cross, Malcolm Reed, Irene L. Andrulis, Julia A. Knight, Gord Glendon, Sandrine Tchatchou, Elinor J. Sawyer, Ian Tomlinson, Michael J. Kerin, Nicola Miller, Christopher A. Haiman, Brian E. Henderson, Fredrick R. Schumacher, Loı̈c Le Marchand, Annika Lindblom, Sara Margolin, Soo‐Hwang Teo, Cheng Har Yip, Daphne S. C. Lee, Tien Yin Wong, Maartje J. Hooning, John W.M. Martens, J. Margriet Collée, Carolien H. M. van Deurzen, John L. Hopper, Melissa C. Southey, Helen Tsimiklis, Miroslav Kapuscinski, Chen‐Yang Shen, Pei-Ei Wu, Jyh-Cherng Yu, Shou-Tung Chen, Grethe Grenaker Alnæs, Anne‐Lise Børresen‐Dale, Graham G. Giles, Roger L. Milne, Catriona McLean, Kenneth Muir, Artitaya Lophatananon, Sarah Stewart‐Brown, Pornthep Siriwanarangsan, Mikael Hartman, Hui Miao, Shaik Ahmad Buhari, Yik Ying Teo, Peter A. Fasching, Lothar Haeberle, Arif B. Ekici, Matthias W. Beckmann, Hermann Brenner, Aida Karina Dieffenbach, Volker Arndt, Christa Stegmaier, Anthony J. Swerdlow, Alan Ashworth, Nick Orr, Minouk J. Schoemaker, Montserrat García‐Closas, Jonine D. Figueroa, Stephen J. Chanock, Jolanta Lissowska, Jacques Simard, Mark S. Goldberg, France Labrèche, Martine Dumont, Robert Winqvist, Katri Pylkäs, Arja Jukkola‐Vuorinen, Hiltrud Brauch, Thomas Brüning, Yon-Dschun Koto, Paolo Radice, Paolo Peterlongo, Bernardo Bonanni, Sara Volorio, Thilo Dörk, Natalia Bogdanova, Sonja Helbig, Vesa Kataja, Veli-Matti Kosma, Jaana M. Hartikainen, Peter Devilee, Robert A.E.M. Tollenaar, Caroline Seynaeve, Christi J. van Asperen, Anna Jakubowska, Jan Lubiński, Katarzyna Jaworska–Bieniek, Katarzyna Durda, Susan Slager, Amanda E. Toland, Christine B. Ambrosone, Drakoulis Yannoukakos, Suleeporn Sangrajrang, Valérie Gaborieau, Paul Brennan, James McKay, Ute Hamann, Diana Torres, Wei Zheng, Jirong Long, Hoda Anton‐Culver, Susan L. Neuhausen, Craig Luccarini, Caroline Baynes, Shahana Ahmed, Mel Maranian, Catherine S. Healey, Anna González‐Neira, Guillermo Pita, M. Rosario Alonso, Núria Álvarez, Daniel Herrero, Daniel C. Tessier, Daniel Vincent, François Bacot, Inês de Santiago, Jason S. Carroll, Carlos Caldas, Melissa A. Brown, Mathieu Lupien, Vessela N. Kristensen, Paul D.P. Pharoah, Georgia Chenevix‐Trench, Juliet D. French, Douglas F. Easton, Alison M. Dunning, David D.L. Bowtell, Anna de Fazio
Bibliographic record
VenueNature Communications · 2014
Typearticle
Languageen
FieldMedicine
TopicGenetic factors in colorectal cancer
Canadian institutionsMcGill University and Génome Québec Innovation CentreUniversité de MontréalSante MontrealMcGill UniversityMcGill University Health CentreUniversité LavalOntario Institute for Cancer ResearchPublic Health OntarioCentre hospitalier universitaire de QuébecRoyal Victoria HospitalUniversity Health NetworkUniversity of TorontoLunenfeld-Tanenbaum Research InstituteMount Sinai HospitalPrincess Margaret Cancer Centre
FundersNational Cancer InstituteInstitute of Biomedical Sciences, Academia SinicaUniversitätsklinikum Hamburg-EppendorfBiomedical Research CouncilInstituto de Salud Carlos IIIMedical Research CouncilNational Institutes of HealthMinistero dello Sviluppo EconomicoAgence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du TravailNational Health and Medical Research CouncilOulun YliopistoDeutsche KrebshilfeMedizinischen Hochschule HannoverInstitut National Du CancerLeids Universitair Medisch CentrumKWF KankerbestrijdingLigue Contre le CancerKarolinska InstitutetNational Medical Research CouncilMinistério da Ciência, Tecnologia e InovaçãoMinistry of Education, Science and TechnologyBundesministerium für Bildung und ForschungMinisterio de Economía y CompetitividadCanadian Institutes of Health ResearchGeneral Secretariat for Research and TechnologyRobert Bosch StiftungKementerian Sains, Teknologi dan InovasiKing's College LondonAcademy of FinlandCancer AustraliaAgence Nationale de la RechercheFonds Wetenschappelijk OnderzoekCancerfondenStockholms Läns LandstingSingapore Eye Research InstituteNational Breast Cancer FoundationEuropean CommissionKuopion Yliopistollinen SairaalaAcademia SinicaNational Institute for Health and Care ResearchRheinische Friedrich-Wilhelms-Universität BonnBreast Cancer Research TrustWellcome TrustFondation du cancer du sein du QuébecNorges ForskningsrådQIMR Berghofer Medical Research InstituteItä-Suomen YliopistoMinistère du Développement Économique, de l’Innovation et de l’ExportationLon V. Smith FoundationEuropean Social FundAgency for Science, Technology and ResearchNederlandse Organisatie voor Wetenschappelijk OnderzoekDeutsche Gesetzliche UnfallversicherungMcGill University Health CentreUniversity of California, IrvineDavid F. and Margaret T. Grohne Family FoundationDeutsches KrebsforschungszentrumBreast Cancer Research FoundationMcGill UniversityHerlev HospitalWorld Health OrganizationAssociazione Italiana per la Ricerca sul CancroMinistry of Public HealthBeckman Research Institute, City of HopeUniversity of Southern CaliforniaCancer Research UKSusan G. Komen for the CureTaiwan BiobankSundhed og Sygdom, Det Frie ForskningsrådCancer Council VictoriaCalifornia Department of Public HealthHelsingin ja Uudenmaan SairaanhoitopiiriUniversity of CambridgeFondation de FranceCalifornia Breast Cancer Research ProgramNIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer ResearchU.S. Department of Health and Human Services
KeywordsSingle-nucleotide polymorphismLocus (genetics)Genome-wide association studyAlleleGeneticsBiologyBreast cancerOdds ratioHaplotypeSNPGenotypeGenetic associationEnhancer1000 Genomes ProjectGenotypingGeneCancerMedicineInternal medicineTranscription factor
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: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.009
Threshold uncertainty score0.018
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 | 0.001 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.005 | 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 head0.049
GPT teacher head0.345
Teacher spread0.297 · 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
Citations121
Published2014
Admission routes2
Has abstractno