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.
VenueHuman Mutation · 2018
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsMcGill UniversityUniversité LavalLunenfeld-Tanenbaum Research InstituteMount Sinai HospitalCentre hospitalier universitaire de QuébecHôpital du Saint-SacrementUniversity of Toronto
FundersJonsson Comprehensive Cancer CenterNational Center for Advancing Translational SciencesInstituto de Salud Carlos IIICanadian Institutes of Health Researchlékařská fakulta Univerzity KarlovyNational Institutes of HealthCentro de Investigación Biomédica en Red de CáncerFox Chase Cancer CenterMinistero dello Sviluppo EconomicoMedical Research CouncilUppsala UniversitetHospices Civils de LyonRadboud Universitair Medisch CentrumSahlgrenska UniversitetssjukhusetInstitut National Du CancerLeids Universitair Medisch CentrumAssociazione Italiana per la Ricerca sul CancroFinanciadora de Estudos e ProjetosKWF KankerbestrijdingLietuvos Mokslo TarybaLinköpings UniversitetHungarian Scientific Research FundLunds UniversitetPontificia Universidad JaverianaNederlandse Organisatie voor Wetenschappelijk OnderzoekMinistero della SaluteInstitut Català de la SalutInstitut Gustave-RoussyUniversity of PennsylvaniaConsejo Nacional de Investigaciones Científicas y TécnicasNorway GrantsGeneralitat de CatalunyaErasmus Medisch CentrumVrije Universiteit AmsterdamFundación Mutua MadrileñaMinistère du Développement Économique, de l’Innovation et de l’ExportationRadboud UniversiteitNational Medical Research CouncilMaastricht Universitair Medisch CentrumUniversiteit LeidenCancer Association of South AfricaMinisterstvo Školství, Mládeže a TělovýchovyNational Breast Cancer FoundationNemzeti Kutatási Fejlesztési és Innovációs HivatalNational Institute for Health and Care ResearchCanadian Breast Cancer Research AllianceCentre Léon BérardGovernment of CanadaNational Cancer InstituteLiga Portuguesa Contra o CancroHospital de Câncer de BarretosFundação de Amparo à Pesquisa do Estado de São PauloEuropean CommissionNorthShore University HealthSystemCancer Research UKMemorial Sloan-Kettering Cancer CenterFondation du cancer du sein du QuébecWellcome TrustDavid F. and Margaret T. Grohne Family FoundationMcGill UniversityBreast Cancer Research FoundationUniverzita Karlova v PrazeUnicancerDeutsches KrebsforschungszentrumCancer Center, University of KansasCancerfondenIstituto Oncologico VenetoUmeå UniversitetRoyal Marsden NHS Foundation TrustDeutsche KrebshilfeLee FoundationGenome CanadaRijksuniversiteit GroningenUniversity of California, San FranciscoCreighton UniversityNRG OncologyDr. Ralph and Marian Falk Medical Research TrustKansas Bioscience AuthorityNational Health and Medical Research CouncilJewish General HospitalFisher Center for Alzheimer's Research FoundationFundación CellexEuropean Regional Development FundJess and Mildred Fisher Center for Familial Cancer ResearchIstituto Pasteur-Fondazione Cenci BolognettiCancer AustraliaLandspítali HáskólasjúkrahúsMinisterio de Economía y CompetitividadOvarian Cancer Research FundUniversiteit MaastrichtEuropean Social FundUniversity of ChicagoSusan G. Komen for the CureGeorgetown UniversityFonds Wetenschappelijk OnderzoekAmerican Cancer Society
KeywordsFounder effectGeneticsBiologyGenotypingMutationGermline mutationAllele frequencyPopulationGermlineEvolutionary biologyAlleleGenotypeHaplotypeGeneDemography
Abstract
fetched live from OpenAlexThe prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.
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: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.427
Threshold uncertainty score0.999
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 spread0.281 · 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
