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Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer
Kyriaki Michailidou, Jonathan Beesley, Sara Lindström, Sander Canisius, Joe Dennis, Michael Lush, Mel Maranian, Manjeet K. Bolla, Mitul Shah, Barbara Perkins, Kamila Czene, Mikael Eriksson, Hatef Darabi, Judith S. Brand, Stig E. Bojesen, Børge G. Nordestgaard, Henrik Flyger, Sune F. Nielsen, Nazneen Rahman, Clare Turnbull, Olivia Fletcher, Julian Peto, Lorna J. Gibson, Isabel dos‐Santos‐Silva, Jenny Chang‐Claude, Dieter Flesch‐Janys, Anja Rudolph, Ursula Eilber, Sabine Behrens, Heli Nevanlinna, Taru Muranen, Kristiina Aittomäki, Carl Blomqvist, Sofia Khan, Kirsimari Aaltonen, Habibul Ahsan, Muhammad G. Kibriya, Alice S. Whittemore, Esther M. John, Kathleen E. Malone, Marilie D. Gammon, Regina M. Santella, Giske Ursin, Enes Makalic, Daniel F. Schmidt, Graham Casey, David J. Hunter, Susan M. Gapstur, Mia M. Gaudet, W. Ryan Diver, Christopher A. Haiman, Fredrick R. Schumacher, Brian E. Henderson, Loı̈c Le Marchand, Christine D. Berg, Stephen J. Chanock, Jonine D. Figueroa, Robert N. Hoover, Diether Lambrechts, Patrick Neven, Hans Wildiers, Erik Van Limbergen, Marjanka K. Schmidt, Annegien Broeks, Senno Verhoef, Sten Cornelissen, Fergus J. Couch, Janet E. Olson, Emily Hallberg, Celine M. Vachon, Quinten Waisfisz, Hanne Meijers‐Heijboer, Muriel A. Adank, Rob B. van der Luijt, Jingmei Li, Jianjun Liu, Keith Humphreys, Daehee Kang, Ji‐Yeob Choi, Sue K. Park, Keun-Young Yoo, Keitaro Matsuo, Hidemi Ito, Hiroji Iwata, Kazuo Tajima, Pascal Guénel, Thérèse Truong, Claire Mulot, Barbara Burwinkel, Frederik Marmé, Harald Surowy, Christof Sohn, Anna H. Wu, Chiu-Chen Tseng, David Van Den Berg, Daniel O. Stram, Anna González‐Neira, Javier Benı́tez, M. Pilar Zamora, José Ignacio Arias Pérez, Xiao‐Ou Shu, Wei Lu, Yu‐Tang Gao, Hui Cai, Angela Cox, Simon S. Cross, Malcolm Reed, Irene L. Andrulis, Julia A. Knight, Gord Glendon, Anna Marie Mulligan, Elinor J. Sawyer, Ian Tomlinson, Michael J. Kerin, Nicola Miller, Annika Lindblom, Sara Margolin, Soo‐Hwang Teo, Cheng Har Yip, Nur Aishah Mohd Taib, Gie-Hooi Tan, Maartje J. Hooning, Antoinette Hollestelle, John W.M. Martens, J. Margriet Collée, William J. Blot, Lisa B. Signorello, Qiuyin Cai, John L. Hopper, Melissa C. Southey, Helen Tsimiklis, Carmel Apicella, Chen‐Yang Shen, Chia‐Ni Hsiung, Pei‐Ei Wu, Ming‐Feng Hou, Vessela N. Kristensen, Silje Nord, Grethe I.G. Alnæs, Graham G. Giles, Roger L. Milne, Catriona McLean, Federico Canzian, Dimitrios Trichopoulos, Petra H. Peeters, Eiliv Lund, Malin Sund, Kay‐Tee Khaw, Marc J. Gunter, Domenico Palli, Lotte Maxild Mortensen, Laure Dossus, José María Huerta, Alfons Meindl, Rita K. Schmutzler, Christian Sutter, Rongxi Yang, Kenneth Muir, Artitaya Lophatananon, Sarah Stewart‐Brown, Pornthep Siriwanarangsan, Mikael Hartman, Hui Miao, Kee Seng Chia, Ching Wan Chan, Peter A. Fasching, Alexander Hein, Matthias W. Beckmann, Lothar Haeberle, Hermann Brenner, Aida Karina Dieffenbach, Volker Arndt, Christa Stegmaier, Alan Ashworth, Nick Orr, Minouk J. Schoemaker, Anthony J. Swerdlow, Louise A. Brinton, Montserrat García‐Closas, Wei Zheng, Sandra L. Halverson, Martha J. Shrubsole, Jirong Long, Mark S. Goldberg, France Labrèche, Martine Dumont, Robert Winqvist, Katri Pylkäs, Arja Jukkola‐Vuorinen, Mervi Grip, Hiltrud Brauch, Ute Hamann, Thomas Brüning, Paolo Radice, Paolo Peterlongo, Siranoush Manoukian, Loris Bernard, Natalia Bogdanova, Thilo Dörk, Vesa Kataja, Veli‐Matti Kosma, Jaana M. Hartikainen, Peter Devilee, Robert A.E.M. Tollenaar, Caroline Seynaeve, Christi J. van Asperen, Anna Jakubowska, Jan Lubiński, Katarzyna Jaworska, Tomasz Huzarski, Suleeporn Sangrajrang, Valérie Gaborieau, Paul Brennan, James McKay, Susan Slager, Amanda E. Toland, Christine B. Ambrosone, Drakoulis Yannoukakos, Maria Kabisch, Diana Torres, Susan L. Neuhausen, Hoda Anton‐Culver, Craig Luccarini, Caroline Baynes, Shahana Ahmed, Catherine S. Healey, Daniel C. Tessier, Daniel Vincent, François Bacot, Guillermo Pita, M. Rosario Alonso, Núria Álvarez, Daniel Herrero, Jacques Simard, Paul D.P. Pharoah, Peter Kraft, Alison M. Dunning, Georgia Chenevix‐Trench, Per Hall, Douglas F. Easton
Bibliographic record
VenueNature Genetics · 2015
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsMcGill University and Génome Québec Innovation CentreCentre hospitalier universitaire de QuébecUniversité de MontréalSante MontrealRoyal Victoria HospitalUniversity Health NetworkLunenfeld-Tanenbaum Research InstituteMount Sinai HospitalMcGill University Health Centre
FundersNational Institute of Environmental Health SciencesMedical Research CouncilMinistero dello Sviluppo EconomicoWorld Health OrganizationEuropean CommissionNational Cancer InstituteNational Institutes of HealthCancer Research UKCanadian Institutes of Health ResearchNational Institute for Health and Care ResearchMinistère du Développement Économique, de l’Innovation et de l’ExportationFrancis Crick Institute
KeywordsBiologyGenome-wide association studyBreast cancerGeneticsGenetic associationGenomeComputational biologyCancerSingle-nucleotide polymorphismGeneGenotype
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)0.001
metaresearch head score (Gemma)0.001
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: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.002
Threshold uncertainty score0.008
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.002 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
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 head0.023
GPT teacher head0.352
Teacher spread0.330 · 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
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".
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Citations634
Published2015
Admission routes2
Has abstractno