Why this work is in the frame
A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.
fundA Canadian funder is recorded on the work.
VenueNature Communications · 2016
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Chromatin Dynamics
Canadian institutionsPublic Health OntarioMcGill UniversityUniversité LavalCentre hospitalier universitaire de QuébecMount Sinai HospitalLunenfeld-Tanenbaum Research InstituteUniversity Health NetworkRoyal Victoria HospitalUniversity of Toronto
FundersMedical Research and Materiel CommandJonsson Comprehensive Cancer CenterNIH Office of the DirectorNational Cancer InstituteEuropean Regional Development FundNorway GrantsInstituto de Salud Carlos IIICancer Council NSWCancer Council VictoriaCancer Center, University of KansasUniversity of California, San FranciscoNational Institutes of Healthlékařská fakulta Univerzity KarlovyInstitut Català de la SalutDeutschen Konsortium für Translationale KrebsforschungLiga Portuguesa Contra o CancroUniversität UlmMinistero dello Sviluppo EconomicoUppsala UniversitetNational Health and Medical Research CouncilDeutsche KrebshilfeRoyal Marsden NHS Foundation TrustSahlgrenska UniversitetssjukhusetCancer Institute NSWMedizinischen Hochschule HannoverNational Medical Research CouncilNorges ForskningsrådCancer Council South AustraliaIstituto Oncologico VenetoMemorial Sloan-Kettering Cancer CenterKreftforeningenInstitut National Du CancerCancer Council QueenslandOak FoundationLeids Universitair Medisch CentrumCanadian Institutes of Health ResearchEuropean CommissionLietuvos Mokslo TarybaHelse VestKuopion Yliopistollinen SairaalaIstituto Toscano TumoriUniversitätsklinikum Hamburg-EppendorfRoswell Park Cancer InstituteDr. Ralph and Marian Falk Medical Research TrustIsrael Cancer AssociationMinistério da Ciência, Tecnologia e InovaçãoGeneral Secretariat for Research and TechnologyDeutsche Gesetzliche UnfallversicherungNederlandse Organisatie voor Wetenschappelijk OnderzoekMinistero della SaluteUniversity of Southern CaliforniaCancerfondenAcademy of FinlandKementerian Sains, Teknologi dan InovasiUniversitair Ziekenhuis GentRobert Bosch StiftungSingapore Eye Research InstituteHungarian Scientific Research FundCancer Association of South AfricaAmerican Cancer SocietyCancer AustraliaCalifornia Breast Cancer Research ProgramUniverzita Karlova v PrazeMcGill UniversityGeneralitat de CatalunyaKing's College LondonImperial College LondonCancer Research UKWorkSafeBCOhio State UniversityCanadian Breast Cancer Research AllianceWorld Health OrganizationNational Center for Advancing Translational SciencesBundesministerium für Bildung und ForschungFrancis Crick InstituteMcGill University Health CentreDavid F. and Margaret T. Grohne Family FoundationUniversity of CambridgeFred C. and Katherine B. Andersen FoundationHelsingin ja Uudenmaan SairaanhoitopiiriCalifornia Department of Public HealthKræftens BekæmpelseKansas Bioscience AuthorityRutgers Cancer Institute of New JerseyMinistère du Développement Économique, de l’Innovation et de l’ExportationLon V. Smith FoundationGeorgetown UniversityCancer Council TasmaniaItä-Suomen YliopistoFox Chase Cancer CenterKWF KankerbestrijdingBiomedical Research CouncilClalit Health ServicesDeutsches KrebsforschungszentrumBreast Cancer Research FoundationAgency for Science, Technology and ResearchUniversity of ChicagoNRG OncologyWellcome TrustFondation du cancer du sein du QuébecUniversiteit GentNational Breast Cancer FoundationEuropean Social FundMedical Research CouncilMayo Foundation for Medical Education and ResearchAssociazione Italiana per la Ricerca sul CancroMinistry of Public HealthBeckman Research Institute, City of HopeNIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer ResearchJess and Mildred Fisher Center for Familial Cancer ResearchOregon Health and Science UniversityUmeå UniversitetU.S. Department of Health and Human ServicesU.S. ArmyLandspítali HáskólasjúkrahúsMinisterio de Economía y CompetitividadOvarian Cancer Research FundRheinische Friedrich-Wilhelms-Universität BonnBreast Cancer Research TrustNational Institute for Health and Care ResearchUniversity of California, IrvineOulun YliopistoFisher Center for Alzheimer's Research FoundationBeth Israel Deaconess Medical CenterSusan G. Komen for the CureFonds Wetenschappelijk OnderzoekMinnesota Ovarian Cancer AllianceUniversity of PennsylvaniaSundhed og Sygdom, Det Frie Forskningsråd
KeywordsAlleleLocus (genetics)Ovarian cancerGeneticsBreast cancerBiologyGeneBioinformaticsMedicineCancer
Abstract
fetched live from OpenAlexA locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10(-20)), ER-negative BC (P=1.1 × 10(-13)), BRCA1-associated BC (P=7.7 × 10(-16)) and triple negative BC (P-diff=2 × 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10(-3)) and ABHD8 (P<2 × 10(-3)). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3'-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.
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.
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 score0.927
Threshold uncertainty score0.913
Codex and Gemma teacher scores by category
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.
Teacher spread0.253 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it
