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Fine-Scale Mapping of the 5q11.2 Breast Cancer Locus Reveals at Least Three Independent Risk Variants Regulating MAP3K1
Dylan M. Glubb, Mel Maranian, Kyriaki Michailidou, Karen A. Pooley, Kerstin B. Meyer, Siddhartha Kar, Saskia Carlebur, Martin O’Reilly, Joshua A. Betts, Kristine M. Hillman, Susanne Kaufmann, Jonathan Beesley, Sander Canisius, John L. Hopper, Melissa C. Southey, Helen Tsimiklis, Carmel Apicella, Marjanka K. Schmidt, Annegien Broeks, Frans B.L. Hogervorst, C. Ellen van der Schoot, Kenneth Muir, Artitaya Lophatananon, Sarah Stewart‐Brown, Pornthep Siriwanarangsan, Peter A. Fasching, Matthias Ruebner, Arif B. Ekici, Matthias W. Beckmann, Julian Peto, Isabel dos‐Santos‐Silva, Olivia Fletcher, Nichola Johnson, Paul D.P. Pharoah, Manjeet K. Bolla, Joe Dennis, Elinor J. Sawyer, Ian Tomlinson, Michael J. Kerin, Nicola Miller, Barbara Burwinkel, Frederik Marmé, Rongxi Yang, Harald Surowy, Pascal Guénel, Thérèse Truong, F. Ménégaux, Stig E. Bojesen, Børge G. Nordestgaard, Sune F. Nielsen, Henrik Flyger, Anna González‐Neira, Javier Benı́tez, M. Pilar Zamora, Hoda Anton‐Culver, Susan L. Neuhausen, Hermann Brenner, Aida Karina Dieffenbach, Volker Arndt, Christa Stegmaier, Alfons Meindl, Rita K. Schmutzler, Hiltrud Brauch, Yon‐Dschun Ko, Thomas Brüning, Heli Nevanlinna, Taru Muranen, Kristiina Aittomäki, Carl Blomqvist, Keitaro Matsuo, Hidemi Ito, Hiroji Iwata, Hideo Tanaka, Thilo Dörk, Natalia Bogdanova, Sonja Helbig, Annika Lindblom, Sara Margolin, Vesa Kataja, Veli-Matti Kosma, Jaana M. Hartikainen, Anna H. Wu, Chiu-Chen Tseng, David Van Den Berg, Daniel O. Stram, Diether Lambrechts, Hui Zhao, Caroline Weltens, Erik Van Limbergen, Jenny Chang‐Claude, Dieter Flesch‐Janys, Anja Rudolph, Petra Seibold, Paolo Radice, Paolo Peterlongo, Monica Barile, F Capra, Fergus J. Couch, Janet E. Olson, Emily Hallberg, Celine M. Vachon, Graham G. Giles, Roger L. Milne, Catriona McLean, Christopher A. Haiman, Brian E. Henderson, Fredrick R. Schumacher, Loı̈c Le Marchand, Jacques Simard, Mark S. Goldberg, France Labrèche, Martine Dumont, Soo‐Hwang Teo, Cheng Har Yip, Mee‐Hoong See, Belinda K. Cornes, Ching‐Yu Cheng, M. Kamran Ikram, Vessela Kristensen, Wei Zheng, Sandra L. Halverson, Martha J. Shrubsole, Jirong Long, Robert Winqvist, Katri Pylkäs, Arja Jukkola‐Vuorinen, Saila Kauppila, Irene L. Andrulis, Julia A. Knight, Gord Glendon, Sandrine Tchatchou, Peter Devilee, Robert A.E.M. Tollenaar, Caroline Seynaeve, Christi J. van Asperen, Montserrat García‐Closas, Jonine D. Figueroa, Stephen J. Chanock, Jolanta Lissowska, Kamila Czene, Daniel Klevebring, Hatef Darabi, Mikael Eriksson, Maartje J. Hooning, Antoinette Hollestelle, John W.M. Martens, J. Margriet Collée, Per Hall, Jingmei Li, Keith Humphreys, Xiao‐Ou Shu, Wei Lu, Yu-Tang Gao, Hui Cai, Angela Cox, Simon S. Cross, Malcolm Reed, William J. Blot, Lisa B. Signorello, Qiuyin Cai, Mitul Shah, Maya Ghoussaini, Daehee Kang, Ji‐Yeob Choi, Hai‐Lin Park, Dong‐Young Noh, Mikael Hartman, Hui Miao, Wei Yen Lim, Anthony P H Tang, Ute Hamann, Diana Torres, Anna Jakubowska, Jan Lubiński, Katarzyna Jaworska, Katarzyna Durda, Suleeporn Sangrajrang, Valérie Gaborieau, Paul Brennan, James McKay, Curtis Olswold, Susan Slager, Amanda Ewart Toland, Drakoulis Yannoukakos, Chen‐Yang Shen, Pei-Ei Wu, Jyh-Cherng Yu, Ming‐Feng Hou, Anthony J. Swerdlow, Alan Ashworth, Nick Orr, Michael E. Jones, Guillermo Pita, M. Rosario Alonso, Núria Álvarez, Daniel Herrero, Daniel C. Tessier, Daniel Vincent, François Bacot, Craig Luccarini, Caroline Baynes, Shahana Ahmed, Catherine S. Healey, Melissa A. Brown, Bruce A.J. Ponder, Georgia Chenevix‐Trench, Deborah J. Thompson, Stacey L. Edwards, Douglas F. Easton, Alison M. Dunning, Juliet D. French
Bibliographic record
VenueThe American Journal of Human Genetics · 2014
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicMelanoma and MAPK Pathways
Canadian institutionsMcGill University and Génome Québec Innovation CentrePublic Health OntarioLunenfeld-Tanenbaum Research InstituteMount Sinai HospitalMcGill University Health CentreMcGill UniversityUniversity of TorontoCentre hospitalier universitaire de QuébecRoyal Victoria HospitalUniversité de MontréalRoyal Victoria Regional Health CentreUniversité Laval
FundersMedical Research CouncilCanadian Institutes of Health ResearchNational Institute for Health and Care ResearchNational Cancer InstituteCancer Research UKNational Institutes of HealthFrancis Crick InstituteWorld Health Organization
KeywordsLocus (genetics)Breast cancerGeneticsBiologyScale (ratio)CancerGeographyGeneCartography
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: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.754
Threshold uncertainty score0.442
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 | 0.001 | 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 head0.011
GPT teacher head0.234
Teacher spread0.223 · 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 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
Citations90
Published2014
Admission routes2
Has abstractno