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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
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Bibliographic record
VenueNature Genetics · 2017
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsUniversity of British ColumbiaPublic Health OntarioSimon Fraser UniversityMcGill UniversityUniversity Health NetworkHôpital du Saint-SacrementMcGill University and Génome Québec Innovation CentreQueen's UniversityLunenfeld-Tanenbaum Research InstituteMount Sinai HospitalCentre Hospitalier de l’Université de MontréalUniversité LavalBC Cancer AgencyRoyal Victoria HospitalCentre hospitalier universitaire de QuébecUniversity of Toronto
FundersMedical Research and Materiel CommandNational Institute of General Medical SciencesNational Human Genome Research InstituteNational Institute of Mental HealthErasmus Universitair Medisch Centrum RotterdamInstituto de Salud Carlos IIISydney Medical SchoolCancer Council Western AustraliaCancer Council NSWCancer Council VictoriaWorld Cancer Research FundEuropean Social FundMedical Research CouncilCancer Center, University of KansasNational Institutes of HealthCentre Léon BérardHellenic Health FoundationFreistaat SachsenAkershus UniversitetssykehusLiga Portuguesa Contra o CancroMutuelle Générale de l'Education NationaleInstitut Gustave-RoussyMinistero dello Sviluppo EconomicoAgence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du TravailHospices Civils de LyonCancer Council South AustraliaIstituto Oncologico VenetoInstituto MilleniumInstitut National Du CancerRadboud Universitair Medisch CentrumOulun YliopistoNational Health and Medical Research CouncilDeutsche KrebshilfeUniversitair Medisch Centrum GroningenLeids Universitair Medisch CentrumUniversitetet i BergenKarolinska InstitutetAssociazione Italiana per la Ricerca sul CancroFondation de FranceStavros Niarchos FoundationFisher Center for Alzheimer's Research FoundationPeter MacCallum Cancer CentreKuopion Yliopistollinen SairaalaBreast Cancer CampaignMinisterstvo Zdravotnictví Ceské RepublikyServicio Gallego de SaludInstitut BergoniéGreat Ormond Street Hospital for ChildrenFonds Wetenschappelijk OnderzoekMinisterio de Economía y CompetitividadErasmus Medisch CentrumDeutsche Gesetzliche UnfallversicherungNederlandse Organisatie voor Wetenschappelijk OnderzoekKing's College LondonGentofte HospitalCancerfondenCancer AustraliaRadboud UniversiteitRussian Foundation for Basic ResearchNorges ForskningsrådStockholms Läns LandstingUniversiteit MaastrichtVrije Universiteit AmsterdamUniversity of Western SydneyMaastricht Universitair Medisch CentrumNational Heart, Lung, and Blood InstituteOhio State UniversityUniversiteit LeidenUniversity of CreteMinistero della SaluteInstitut National de la Santé et de la Recherche MédicaleMedisinske fakultet, Universitetet i OsloHunter Medical Research InstituteDeutscher Akademischer AustauschdienstRobert Bosch StiftungIstituto Toscano TumoriTrinity College DublinAgency for Science, Technology and ResearchCenters for Disease Control and PreventionJewish General HospitalNational Institute for Health and Care ResearchUniversity of QueenslandHungarian Scientific Research FundCancer Association of South AfricaMedizinischen Hochschule HannoverCancer Institute NSWCanadian Institutes of Health ResearchLietuvos Mokslo TarybaEuropean CommissionDeutsches KrebsforschungszentrumUniversity of AberdeenQIMR Berghofer Medical Research InstituteFondation du cancer du sein du QuébecGénome QuébecUniversitetet i OsloUniversity of NottinghamCalvary Mater NewcastleNottingham University Hospitals NHS TrustNational Breast Cancer FoundationNational Institute of Environmental Health SciencesSwedish Cancer FoundationUniversité LavalRoyal Marsden NHS Foundation TrustLon V. Smith FoundationVlaamse regeringFundación Mutua MadrileñaHaukeland UniversitetssjukehusMinistère du Développement Économique, de l’Innovation et de l’ExportationUniversity of SouthamptonCancer Research UKAgence Nationale de la RechercheWellcome TrustDavid F. and Margaret T. Grohne Family FoundationBreast Cancer Research FoundationGeneralitat de CatalunyaUniverzita Karlova v PrazeKansas Bioscience AuthorityXunta de GaliciaIsrael Cancer AssociationDr. Ralph and Marian Falk Medical Research TrustUniversity Hospitals of Leicester NHS TrustNational Center for Advancing Translational SciencesFrancis Crick InstituteBundesministerium für Bildung und ForschungOvarian Cancer Research FundOdense UniversitetshospitalCentral Manchester University Hospitals NHS Foundation TrustNational Cancer InstituteEuropean Regional Development FundMinisterio de Sanidad, Servicios Sociales e IgualdadGovernment of CanadaNIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer ResearchNorges Teknisk-Naturvitenskapelige UniversitetCentre Hospitalier Universitaire de QuébecCancer Council TasmaniaItä-Suomen YliopistoGenome CanadaInstitut Català de la SalutNewcastle upon Tyne Hospitals NHS Foundation TrustCreighton UniversityInstitut Claudius RegaudCalifornia Department of Public HealthSundhed og Sygdom, Det Frie ForskningsrådUniversity of WashingtonMassachusetts Institute of TechnologyUniversity of TorontoUniversity of California, San FranciscoUniversitetet i TromsøSusan G. Komen for the Cure
KeywordsBiologyBreast cancerEstrogen receptorIdentification (biology)GeneticsEstrogenEstrogen receptor betaEstrogen receptor alphaOncologyInternal medicineCancerComputational biologyBioinformaticsMedicine
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)0.002
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 score0.004
Threshold uncertainty score0.009
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.003 | 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 head0.006
GPT teacher head0.277
Teacher spread0.271 · 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
Citations471
Published2017
Admission routes2
Has abstractno