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Rare Copy Number Variants (CNVs) and Breast Cancer Risk
Joe Dennis, Jonathan P. Tyrer, Logan C. Walker, Kyriaki Michailidou, Leila Dorling, Manjeet Bola, Qin Wang, Thomas U. Ahearn, Irene L. Andrulis, Hoda Anton‐Culver, Natalia Antonenkova, Volker Arndt, Kristan J. Aronson, Laura Beane Freeman, Matthias W. Beckmann, Sabine Behrens, Javier Benı́tez, Marina Bermisheva, Stig Bojeson, Hermann Brenner, Jose E. Castelao, Jenny Chang‐Claude, Georgia Chenevix‐Trench, Christine L. Clarke, NBCS Collaborators, J. Margriet Collée, Fergus J. Couch, Angela Cox, Simon S. Cross, Kamila Czene, Peter Devilee, Thilo Dörk, Laure Dossus, A. Heather Eliassen, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Jonine D. Figueroa, Olivia Fletcher, Henrik Flyger, Lin Fritschi, Marike Gabrielson, Manuela Gago-Domínguez, Montserrat García‐Closas, Graham G. Giles, Anna González‐Neira, Pascal Guénel, Eric Hahen, Christopher A. Haiman, Per Hall, Antoinette Hollestelle, Reine Hoppe, John L. Hopper, Anthony Howell, ACTB Investigators, kConFab Investigators, Agnes Jager, Anna Jakubowska, Esther M. John, Nichola Johnson, Michael E. Jones, Audrey Jung, Rudolf Kaaks, Renske Keeman, Э. К. Хуснутдинова, Cari M. Kitahara, Yon‐Dschun Ko, Veli‐Matti Kosma, Stella Koutros, Peter Kraft, Vessela N. Kristensen, Katerina Kubelka‐Sabit, Alison Kurian, Diether Lambrechts, Nicole L. Larson, Martha S. Linet, Alicja Łukomska, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, Dimitrios Mavroudis, Roger L. Milne, Taru Muranen, Rachel A. Murphy, Heli Nevanlinna, Janet E. Olson, Håkan Olsson, Tjoung‐Won Park‐Simon, Charles M. Perou, Paolo Peterlongo, Dijana Plaseska-Karanfilska, Katri Pylkäs, Gad Rennert, Emmanouil Saloustros, Dale P. Sandler, Elinor J. Sawyer, Marjanka K. Schmidt, Rita K. Schmutzler, Rana Shibli, Ann Smeets, Penny Soucy, Melissa C. Southey, Anthony J. Swerdlow, Rulla M. Tamimi, Jack A. Taylor, Lauren R. Teras, Mary Beth Terry, Ian Tomlinson, Melissa A. Troester, Thérèse Truong, Celine M. Vachon, Camilla Wendt, Robert Winqvist, Alicja Wolk, Xiaohong R. Yang, Wei Zheng, Argyrios Ziogas, Jacques Simard, Alison M. Dunning, Paul D.P. Pharoah, Douglas F. Easton
Bibliographic record
VenueResearch Square · 2021
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomic variations and chromosomal abnormalities
Canadian institutionsUniversité LavalCentre hospitalier de l'Université LavalCentre hospitalier universitaire de QuébecUniversity of British ColumbiaQueen's UniversityInstitute of Cancer ResearchUniversity of Toronto
FundersMedical Research and Materiel CommandServicio Gallego de SaludUniversitätsklinikum Hamburg-EppendorfInstituto de Salud Carlos IIICancer Council TasmaniaWorld Cancer Research FundMedical Research CouncilCanadian Institutes of Health ResearchManchester Biomedical Research CentreNational Institute of Environmental Health SciencesU.S. ArmyImperial Experimental Cancer Medicine CentreNational Institutes of HealthHellenic Health FoundationDeutschen Konsortium für Translationale KrebsforschungXunta de GaliciaMutuelle Générale de l'Education NationaleInstitut Gustave-RoussyMinistero dello Sviluppo EconomicoNational Health and Medical Research CouncilOulun YliopistoDeutsche KrebshilfeCenters for Disease Control and PreventionInstitut National Du CancerLeids Universitair Medisch CentrumAssociazione Italiana per la Ricerca sul CancroKWF KankerbestrijdingVetenskapsrådetLigue Contre le CancerUniversity of CreteInstitut National de la Santé et de la Recherche MédicaleCancer Council South AustraliaAmerican Cancer SocietyFonds Wetenschappelijk OnderzoekCancerfondenNational Cancer InstituteUniversity College LondonCancer Institute NSWCancer Council Western AustraliaEuropean CommissionResearch Promotion FoundationAcademy of FinlandKing's College LondonEberhard Karls Universität TübingenFondation du cancer du sein du QuébecGénome QuébecMinisterio de Economía y CompetitividadOvarian Cancer Research FundBundesministerium für Bildung und ForschungNational Breast Cancer FoundationAgence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du TravailSwedish Cancer FoundationAgency for Science, Technology and ResearchLon V. Smith FoundationMinistère du Développement Économique, de l’Innovation et de l’ExportationUniversity of CaliforniaKreftforeningenDavid F. and Margaret T. Grohne Family FoundationGenome CanadaSundhed og Sygdom, Det Frie ForskningsrådCentre International de Recherche sur le CancerDeutsches KrebsforschungszentrumDeutsche Gesetzliche UnfallversicherungDeutsche ForschungsgemeinschaftGentofte HospitalNational Institute for Health and Care ResearchHarvard T.H. Chan School of Public HealthNorges ForskningsrådDivision of Cancer Prevention, National Cancer InstituteCancer Council VictoriaCalifornia Department of Public HealthBrigham and Women's HospitalCancer AustraliaAgence Nationale de la RechercheRheinische Friedrich-Wilhelms-Universität BonnOak FoundationMinisterio de Sanidad, Servicios Sociales e IgualdadGovernment of CanadaUniversity of CambridgeMcGill UniversityBreast Cancer Research FoundationCancer Council NSWSusan G. Komen for the CureFondation de FranceNIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer ResearchUniversity of California, San FranciscoU.S. Department of Health and Human ServicesCancer Research UKStavros Niarchos FoundationUniversity of Southern CaliforniaRoyal Society Te Apārangi
KeywordsCopy-number variationBreast cancerGeneticsMedicineCancerBiologyGeneGenome
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 score0.007
Threshold uncertainty score0.023
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.004 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.007 | 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 head0.022
GPT teacher head0.338
Teacher spread0.316 · 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
Citations0
Published2021
Admission routes2
Has abstractno