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A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population
Antonis C. Antoniou, Xianshu Wang, Zachary S. Fredericksen, Lesley McGuffog, Robert F. Tarrell, Olga M. Sinilnikova, Sue Healey, Jonathan J. Morrison, Christiana Kartsonaki, Timothy G. Lesnick, Maya Ghoussaini, Daniel Barrowdale, Susan Peock, Margaret Cook, Clare Oliver, Debra Frost, Diana Eccles, D. Gareth Evans, Rosalind A. Eeles, Louise Izatt, Carol Chu, Fiona Douglas, J. Paterson, Dominique Stoppa-Lyonnet, Claude Houdayer, Sylvie Mazoyer, Sophie Giraud, Christine Lasset, Olivier Caron, Agnès Hardouin, Pascaline Berthet, Frans B.L. Hogervorst, Matti A. Rookus, Agnes Jager, Ans van den Ouweland, Rob B. van der Luijt, Hanne Meijers‐Heijboer, E. Gómez, Peter Devilee, Maaike P.G. Vreeswijk, Jan Lubiński, Anna Jakubowska, Jacek Gronwald, Tomasz Huzarski, Tomasz Byrski, Bohdan Górski, Cezary Cybulski, Amanda B. Spurdle, Helene Holland, Esther M. John, John L. Hopper, Melissa C. Southey, Saundra S. Buys, Mary B. Daly, Mary Beth Terry, Rita K. Schmutzler, Barbara Wappenschmidt, Christoph Engel, Alfons Meindl, Sabine Preisler‐Adams, Norbert Arnold, Dieter Niederacher, Christian Sutter, Susan M. Domchek, Katherine L. Nathanson, Timothy R. Rebbeck, Joanne L. Blum, Marion Piedmonte, Gustavo C. Rodriguez, Katie Wakeley, John F. Boggess, Jack Basil, Stephanie V. Blank, Eitan Friedman, Bella Kaufman, Yael Laitman, Roni Milgrom, Irene L. Andrulis, Gord Glendon, Hilmi Özçelik, Tomas Kirchhoff, Joseph Vijai, Mia M. Gaudet, David Altshuler, Candace Guiducci, Niklas Loman, Katja Harbst, Johanna Rantala, Hans Ehrencrona, Anne‐Marie Gerdes, Mads Thomassen, Lone Sunde, Paolo Peterlongo, Siranoush Manoukian, Bernardo Bonanni, Alessandra Viel, Paolo Radice, Trinidad Caldés, Miguel de la Hoya, Christian F. Singer, Anneliese Fink-Retter, Mark H. Greene, Jennifer T. Loud, Lucia Guidugli, Noralane M. Lindor, Thomas van Overeem Hansen, Finn C. Nielsen, Ignacio Blanco, Conxi Lázaro, Judy Garber, Susan J. Ramus, Simon A. Gayther, Catherine Phelan, Stephen Narod, Csilla I. Szabo, Javier Benítez, Ana Osório, Heli Nevanlinna, Tuomas Heikkinen, Maria A. Caligo, Mary Beattie, Ute Hamann, Andrew K Godwin, Marco Montagna, Cinzia Casella, Susan L. Neuhausen, Beth Y Karlan, Nadine Tung, Amanda Ewart Toland, Jeffrey N. Weitzel, O. I. Olopade, Jacques Simard, Penny Soucy, Wendy S. Rubinstein, Aðalgeir Arason, Gad Rennert, Nicholas G. Martin, Grant W. Montgomery, Jenny Chang‐Claude, Dieter Flesch-Janys, Hiltrud Brauch, Gianluca Severi, Laura Baglietto, Angela Cox, Simon S. Cross, Penelope Miron, Sue Gerty, William Tapper, Drakoulis Yannoukakos, George Fountzilas, Peter A Fasching, Matthias W Beckmann, Isabel dos‐Santos‐Silva, Julian Peto, Diether Lambrechts, R. Paridaens, Thomas Rüdiger, Asta Försti, Robert Winqvist, Katri Pylkäs, Robert B. Diasio, Adam M. Lee, Jeanette E. Eckel‐Passow, Celine M. Vachon, Fiona M. Blows, Kristy Driver, Alison M. Dunning, Paul D.P. Pharoah, Kenneth Offit, V. Shane Pankratz, Hakon Hakonarson, Georgia Chenevix‐Trench, Douglas F. Easton, Fergus J. Couch
Bibliographic record
VenueNature Genetics · 2010
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsCentre hospitalier universitaire de QuébecCancer Care OntarioWomen's College HospitalUniversity of TorontoLunenfeld-Tanenbaum Research InstituteMount Sinai Hospital
FundersNational Center for Research ResourcesNational Cancer InstituteNational Institutes of HealthCancer Research UKWellcome TrustBreast Cancer Research Foundation
KeywordsBreast cancerSingle-nucleotide polymorphismOncologyInternal medicineEstrogen receptorPopulationGenome-wide association studyOdds ratioBiologyCancerCase-control studyGeneticsMedicineGenotypeGene
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 score0.005
Threshold uncertainty score0.017
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.005 | 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 head0.004
GPT teacher head0.259
Teacher spread0.255 · 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
Citations342
Published2010
Admission routes1
Has abstractno