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Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants
Hongyan Li, Christoph Engel, Miguel de la Hoya, Paolo Peterlongo, Drakoulis Yannoukakos, Luca Livraghi, Paolo Radice, Mads Thomassen, Thomas van Overeem Hansen, Anne‐Marie Gerdes, Henriette Roed Nielsen, Sandrine M. Caputo, Alberto Zambelli, Åke Borg, Ángela R. Solano, Abigail Thomas, Michael T. Parsons, Antonis C. Antoniou, Goska Leslie, Xin Yang, Georgia Chenevix‐Trench, Trinidad Caldés, Ava Kwong, Inge Søkilde Pedersen, Charlotte Kvist Lautrup, Esther M. John, Mary Beth Terry, John L. Hopper, Melissa C. Southey, Irene L. Andrulis, Marc Tischkowitz, Ramūnas Janavičius, Susanne E. Boonen, Lone Kroeldrup, Liliana Varesco, Ute Hamann, Ana Vega, Edenir Inêz Palmero, Judy E. Garber, Marco Montagna, Christi J. van Asperen, Lenka Foretová, Mark H. Greene, Tina Selkirk, Pål Møller, Amanda E. Toland, Susan M. Domchek, Paul A. James, Heather Thorne, Sarah M. Nielsen, Siranoush Manoukian, Barbara Pasini, Maria A. Caligo, Conxi Lázaro, Judy Kirk, Barbara Wappenschmidt, Amanda B. Spurdle, Fergus J. Couch, Rita K. Schmutzler, David E. Goldgar
Bibliographic record
VenueGenetics in Medicine · 2021
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsLunenfeld-Tanenbaum Research InstituteUniversity of TorontoMount Sinai Hospital
FundersDivision of Cancer Epidemiology and Genetics, National Cancer InstituteMailman School of Public Health, Columbia UniversityUniversity of ChicagoStanford Cancer InstituteHospital de Câncer de BarretosNational Cancer InstituteEuropean Regional Development FundNational Institutes of HealthSchool of MedicineDeutsches KrebsforschungszentrumUnicancerSchool of Medicine, Stanford UniversityCentro de Investigación Biomédica en Red de CáncerUniversitätsklinikum KölnNational Health and Medical Research CouncilInstitut National Du CancerLeids Universitair Medisch CentrumUniversität zu KölnBreast Cancer Research FoundationConselho Nacional de Desenvolvimento Científico e TecnológicoSydney Medical SchoolUniversity of MelbourneCancer Council VictoriaUniversity of TorontoFinanciadora de Estudos e ProjetosUniversity of PennsylvaniaCambridge University HospitalsPeter MacCallum Cancer CentreNIHR Cambridge Biomedical Research CentreServicio Gallego de SaludLigue Contre le CancerNational Institute for Health and Care ResearchUniversity of CambridgeUniversity of SouthamptonCancer Research UKMonash UniversityAalborg UniversitetshospitalUniversity of Pennsylvania Health SystemIstituto Oncologico VenetoQIMR Berghofer Medical Research InstituteUniversiteit LeidenMinisterio de Ciencia e InnovaciónEuropean CommissionNorthShore University HealthSystemAssociazione Italiana per la Ricerca sul CancroAalborg UniversitetFundación Mutua MadrileñaInstituto de Salud Carlos IIIOhio State University
KeywordsMissense mutationOvarian cancerBreast cancerMedicineBRCA2 ProteinGeneticsOncologyCancer researchBiologyCancerInternal medicineMutationGeneGermline mutation
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 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)0.001
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 score0.774
Threshold uncertainty score0.777
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 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 head0.039
GPT teacher head0.327
Teacher spread0.288 · 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
Citations29
Published2021
Admission routes2
Has abstractno