← Back to cohort
An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression
Asaf Wyszynski, Chi‐Chen Hong, Kristin Lam, Kyriaki Michailidou, Christian Lytle, Song Yao, Yali Zhang, Manjeet K. Bolla, Joe Dennis, John L. Hopper, Melissa C. Southey, Marjanka K. Schmidt, Annegien Broeks, Kenneth Muir, Artitaya Lophatananon, Peter A. Fasching, Matthias W. Beckmann, Julian Peto, Isabel dos‐Santos‐Silva, Elinor J. Sawyer, Ian Tomlinson, Barbara Burwinkel, Frederik Marmé, Pascal Guénel, Thérèse Truong, Stig E. Bojesen, Børge G. Nordestgaard, Anna González‐Neira, Javier Benı́tez, Susan L. Neuhausen, Hermann Brenner, Aida Karina Dieffenbach, Alfons Meindl, Rita K. Schmutzler, Hiltrud Brauch, Heli Nevanlinna, Sofia Khan, Keitaro Matsuo, Hidemi Ito, Thilo Dörk, Natalia Bogdanova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Veli‐Matti Kosma, Anna H. Wu, David Van Den Berg, Diether Lambrechts, Hans Wildiers, Jenny Chang‐Claude, Anja Rudolph, Paolo Radice, Paolo Peterlongo, Fergus J. Couch, Janet E. Olson, Graham G. Giles, Roger L. Milne, Christopher A. Haiman, Brian E. Henderson, Martine Dumont, Soo‐Hwang Teo, Tien Yin Wong, Vessela Kristensen, Wei Zheng, Jirong Long, Robert Winqvist, Katri Pylkäs, Irene L. Andrulis, Julia A. Knight, Peter Devilee, Caroline Seynaeve, Montserrat García‐Closas, Jonine D. Figueroa, Daniel Klevebring, Kamila Czene, Maartje J. Hooning, Ans M.W. van den Ouweland, Hatef Darabi, Xiao-Ou Shu, Yu‐Tang Gao, Angela Cox, William J. Blot, Lisa B. Signorello, Mitul Shah, Daehee Kang, Ji‐Yeob Choi, Mikael Hartman, Hui Miao, Ute Hamann, Anna Jakubowska, Jan Lubiński, Suleeporn Sangrajrang, James McKay, Amanda E. Toland, Drakoulis Yannoukakos, Chen‐Yang Shen, Pei‐Ei Wu, Anthony J. Swerdlow, Nick Orr, Jacques Simard, Paul D.P. Pharoah, Alison M. Dunning, Georgia Chenevix‐Trench, Per Hall, Elisa V. Bandera, Chris Amos, Christine B. Ambrosone, Douglas F. Easton, Michael D. Cole
Bibliographic record
VenueHuman Molecular Genetics · 2016
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomic variations and chromosomal abnormalities
Canadian institutionsPublic Health OntarioUniversity of TorontoLunenfeld-Tanenbaum Research InstituteMount Sinai HospitalUniversité LavalCentre hospitalier universitaire de Québec
FundersInstituto de Salud Carlos IIICancer Council TasmaniaCancer Council NSWMedical Research CouncilU.S. ArmyMedical Research and Materiel CommandAgence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du TravailNational Health and Medical Research CouncilInstitut National Du CancerCancer Council VictoriaDeutsche KrebshilfeMedizinischen Hochschule HannoverStockholms Läns LandstingNational Cancer InstituteKuopion Yliopistollinen SairaalaKarolinska InstitutetMinisterio de Economía y CompetitividadCancer Institute NSWFonds Wetenschappelijk OnderzoekCancerfondenNederlandse Organisatie voor Wetenschappelijk OnderzoekAgence Nationale de la RechercheBundesministerium für Bildung und ForschungNational Breast Cancer FoundationKing's College LondonNational Institute for Health and Care ResearchHerlev HospitalWorld Health OrganizationCancer Research UKUniversity of WestminsterFrancis Crick InstituteNational Institutes of HealthDeutsche Gesetzliche UnfallversicherungDavid F. and Margaret T. Grohne Family FoundationCancer Council South AustraliaLigue Contre le CancerDeutsches KrebsforschungszentrumFondation de FranceCalifornia Department of Public HealthSundhed og Sygdom, Det Frie ForskningsrådAssociazione Italiana per la Ricerca sul CancroItä-Suomen YliopistoRobert Bosch StiftungHelsingin ja Uudenmaan SairaanhoitopiiriEuropean CommissionBreast Cancer Research FoundationMemorial Sloan-Kettering Cancer Center
KeywordsBiologyBreast cancerGeneticsGenome-wide association studyGenotypeEnhancerLocus (genetics)Case-control studySingle-nucleotide polymorphismCancerInternal medicineGeneMedicineGene expression
Abstract
). These associations were independent of previously reported 2q35 variants, rs13387042/rs4442975 and rs16857609, and were stronger for ER-positive than ER-negative disease. Together, these results suggest that 2q35 breast cancer risk loci may be mediating their effect through IGFBP5.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.020
Threshold uncertainty score0.983
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 | 0.000 |
| 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 head0.005
GPT teacher head0.246
Teacher spread0.241 · 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
Citations37
Published2016
Admission routes1
Has abstractyes