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Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170
Alison M. Dunning, Kyriaki Michailidou, Karoline Kuchenbaecker, Deborah J. Thompson, Juliet D. French, Jonathan Beesley, Catherine S. Healey, Siddhartha Kar, Karen A. Pooley, Elena López‐Knowles, Ed Dicks, Daniel Barrowdale, Nicholas A. Sinnott‐Armstrong, Richard Sallari, Kristine M. Hillman, Susanne Kaufmann, Haran Sivakumaran, Mahdi Moradi Marjaneh, Jason S. Lee, Margaret Hills, Monika Jarosz, Suzie Drury, Sander Canisius, Manjeet K. Bolla, Joe Dennis, John L. Hopper, Melissa C. Southey, Annegien Broeks, Marjanka K. Schmidt, Artitaya Lophatananon, Kenneth Muir, Matthias W. Beckmann, Peter A. Fasching, Isabel dos‐Santos‐Silva, Julian Peto, Elinor J. Sawyer, Ian Tomlinson, Barbara Burwinkel, Frederik Marmé, Pascal Guénel, Thérèse Truong, Stig E. Bojesen, Henrik Flyger, Anna González‐Neira, José Ignacio Arias Pérez, Hoda Anton‐Culver, Eunjung Lee, Volker Arndt, Hermann Brenner, Alfons Meindl, Rita K. Schmutzler, Hiltrud Brauch, Ute Hamann, Kristiina Aittomäki, Carl Blomqvist, Hidemi Ito, Keitaro Matsuo, Н.В. Богданова, Thilo Dörk, Annika Lindblom, Sara Margolin, Veli‐Matti Kosma, Chiu-Chen Tseng, Anna H. Wu, Diether Lambrechts, Hans Wildiers, Jenny Chang‐Claude, Anja Rudolph, Paolo Peterlongo, Paolo Radice, Janet E. Olson, Graham G. Giles, Roger L. Milne, Christopher A. Haiman, Brian E. Henderson, Mark S. Goldberg, Soo‐Hwang Teo, Cheng Har Yip, Silje Nord, Anne‐Lise Børresen‐Dale, Vessela Kristensen, Jirong Long, Wei Zheng, Katri Pylkäs, Robert Winqvist, Irene L. Andrulis, Julia A. Knight, Peter Devilee, Caroline Seynaeve, Jonine D. Figueroa, Mark E. Sherman, Kamila Czene, Hatef Darabi, Antoinette Hollestelle, Ans M.W. van den Ouweland, Keith Humphreys, Yu‐Tang Gao, Xiao‐Ou Shu, Angela Cox, Simon S. Cross, William J. Blot, Qiuyin Cai, Maya Ghoussaini, Barbara Perkins, Mitul Shah, Ji‐Yeob Choi, Daehee Kang, Soo Chin Lee, Mikael Hartman, Maria Kabisch, Diana Torres, Anna Jakubowska, Jan Lubiński, Paul Brennan, Suleeporn Sangrajrang, Christine B. Ambrosone, Amanda E. Toland, Chen‐Yang Shen, Pei‐Ei Wu, Nick Orr, Anthony J. Swerdlow, Lesley McGuffog, Sue Healey, Andrew Lee, Miroslav Kapuscinski, Esther M. John, Mary Beth Terry, Mary B. Daly, David E. Goldgar, Saundra S. Buys, Ramūnas Janavičius, Laima Tihomirova, Nadine Tung, Cecilia M. Dorfling, Elizabeth J. van Rensburg, Susan L. Neuhausen, Bent Ejlertsen, Thomas van Overeem Hansen, Ana Osório, Javier Benı́tez, Rachel Rando, Jeffrey N. Weitzel, Bernardo Bonanni, Bernard Peissel, Siranoush Manoukian, Laura Papi, Laura Ottini, Irene Konstantopoulou, Paraskevi Apostolou, Judy E. Garber, Muhammad Usman Rashid, Debra Frost, Louise Izatt, Andrew K. Godwin, Norbert Arnold, Dieter Niederacher, Kerstin Rhiem, Nadja Bogdanova-Markov, Charlotte Sagne, Dominique Stoppa‐Lyonnet, Francesca Damiola, Olga M. Sinilnikova, Sylvie Mazoyer, Claudine Isaacs, Kathleen Claes, Kim De Leeneer, Miguel de la Hoya, Trinidad Caldés, Heli Nevanlinna, Sofia Khan, Arjen R. Mensenkamp, Maartje J. Hooning, Matti A. Rookus, Ava Kwong, Edith Oláh, Orland Dı́ez, Joan Brunet, Miquel Angel Pujana, Jacek Gronwald, Tomasz Huzarski, Rósa B. Barkardóttir, Rachel Laframboise, Penny Soucy, Marco Montagna, Simona Agata, Manuel R. Teixeira, Sue K. Park, Noralane M. Lindor, Fergus J. Couch, Marc Tischkowitz, Lenka Foretová, Joseph Vijai, Kenneth Offit, Christian F. Singer, Christine Rappaport, Catherine M. Phelan, Mark H. Greene, Gad Rennert, Evgeny N. Imyanitov, Peter J. Hulick, Kelly‐Anne Phillips, Marion Piedmonte, Anna Marie Mulligan, Gord Glendon, Anders Bojesen, Mads Thomassen, Maria A. Caligo, Sook-Yee Yoon, Eitan Friedman, Yael Laitman, Åke Borg, Anna von Wachenfeldt, Hans Ehrencrona, Johanna Rantala, Olufunmilayo I. Olopade, Patricia A. Ganz, Robert L. Nussbaum, Simon A. Gayther, Katherine L. Nathanson, Susan M. Domchek, Banu Arun, Gillian Mitchell, Beth Y. Karlan, Jenny Lester, Gertraud Maskarinec, Christy Woolcott, Christopher J. Scott, Jennifer Stone, Carmel Apicella, Rulla M. Tamimi, Robert Luben, Kay‐Tee Khaw, Åslaug Helland, Vilde Drageset Haakensen, Mitch Dowsett, Paul D.P. Pharoah, Jacques Simard, Per Hall, Montserrat García‐Closas, Celine M. Vachon, Georgia Chenevix‐Trench, Antonis C. Antoniou, Douglas F. Easton, Stacey L. Edwards
Bibliographic record
VenueNature Genetics · 2016
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsUniversité LavalCentre hospitalier universitaire de QuébecPublic Health OntarioDalhousie UniversityUniversity Health NetworkRoyal Victoria HospitalUniversity of TorontoLunenfeld-Tanenbaum Research InstituteMount Sinai HospitalMcGill University
FundersNational Cancer InstituteMedical Research CouncilCanadian Institutes of Health ResearchNational Institute for Health and Care ResearchCancer Research UKFrancis Crick InstituteBreast Cancer Research FoundationU.S. Department of DefenseWorld Health OrganizationMinistero dell'Università e della RicercaUniversità degli Studi di FirenzeNational Institutes of HealthOvarian Cancer Research FundGénome QuébecMcGill University
KeywordsBiologyPhenotypeBreast cancerGeneticsCancerComputational biologyBioinformaticsGene
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)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow), Research integrity
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Other design · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.990
Threshold uncertainty score1.000
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 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 | 0.002 | 0.001 |
| 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 head0.009
GPT teacher head0.302
Teacher spread0.293 · 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.
Study designOther design
Domainnot available
GenreReview
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
Citations171
Published2016
Admission routes2
Has abstractno