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Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
Haoyu Zhang, Thomas U. Ahearn, Julie Lecarpentier, Daniel R. Barnes, Jonathan Beesley, Guanghao Qi, Xia Jiang, Tracy A. O’Mara, Ni Zhao, Manjeet K. Bolla, Alison M. Dunning, Joe Dennis, Qin Wang, Zumuruda Abu Ful, Kristiina Aittomäki, Irene L. Andrulis, Hoda Anton‐Culver, Volker Arndt, Kristan J. Aronson, Banu Arun, Paul L. Auer, Jacopo Azzollini, Daniel Barrowdale, Heiko Becher, Matthias W. Beckmann, Sabine Behrens, Javier Benı́tez, Marina Bermisheva, Katarzyna Białkowska, Ana Blanco, Carl Blomqvist, Natalia Bogdanova, Stig E. Bojesen, Bernardo Bonanni, Davide Bondavalli, Åke Borg, Hiltrud Brauch, Hermann Brenner, Ignacio Briceño, Annegien Broeks, Sara Y. Brucker, Thomas Brüning, Barbara Burwinkel, Saundra S. Buys, Helen Byers, Trinidad Caldés, Maria A. Caligo, Mariarosaria Calvello, Daniele Campa, Jose E. Castelao, Jenny Chang‐Claude, Stephen J. Chanock, Melissa Christiaens, Hans Christiansen, Wendy K. Chung, Kathleen Claes, Christine L. Clarke, Sten Cornelissen, Fergus J. Couch, Angela Cox, Simon S. Cross, Kamila Czene, Mary B. Daly, Peter Devilee, Orland Dı́ez, Susan M. Domchek, Thilo Dörk, Miriam Dwek, Arif B. Ekici, D. Gareth Evans, Peter A. Fasching, Jonine D. Figueroa, Lenka Foretová, Florentia Fostira, Eitan Friedman, Debra Frost, Manuela Gago-Domínguez, Susan M. Gapstur, Judy E. Garber, José Á. García-Sáenz, Mia M. Gaudet, Simon A. Gayther, Graham G. Giles, Andrew K. Godwin, Mark S. Goldberg, David E. Goldgar, Anna González‐Neira, Mark H. Greene, Jacek Gronwald, Pascal Guénel, Lothar Häberle, Eric Hahnen, Christopher A. Haiman, Christopher R. Hake, Per Hall, Ute Hamann, Elaine F. Harkness, Bernadette A. M. Heemskerk‐Gerritsen, Peter Hillemanns, Frans B.L. Hogervorst, Bernd Holleczek, Antoinette Hollestelle, Maartje J. Hooning, Robert N. Hoover, John L. Hopper, Anthony Howell, Hanna Huebner, Peter J. Hulick, Evgeny N. Imyanitov, Claudine Isaacs, Louise Izatt, Agnes Jager, Milena Jakimovska, Anna Jakubowska, Paul A. James, Ramunas Janavicius, Wolfgang Janni, Esther M. John, Michael E. Jones, Audrey Jung, Rudolf Kaaks, Pooja Middha, Beth Y. Karlan, Renske Keeman, Sofia Khan, Э. К. Хуснутдинова, Cari M. Kitahara, Yon‐Dschun Ko, Irene Konstantopoulou, Linetta B. Koppert, Stella Koutros, Vessela N. Kristensen, Anne‐Vibeke Lænkholm, Diether Lambrechts, Susanna C. Larsson, Pierre Laurent‐Puig, Conxi Lázaro, Emilija Lazarova, Flavio Lejbkowicz, Goska Leslie, Fabienne Lesueur, Annika Lindblom, Jolanta Lissowska, Wing‐Yee Lo, Jennifer T. Loud, Jan Lubiński, Alicja Łukomska, Robert J. MacInnis, Mehdi Manoochehri, Siranoush Manoukian, Sara Margolin, Marı́a Elena Martı́nez, Laura Matricardi, Lesley McGuffog, Catriona McLean, Noura Mebirouk, Alfons Meindl, Usha Menon, Austin Miller, Elvira Mingazheva, Marco Montagna, Anna Marie Mulligan, Claire Mulot, Taru Muranen, Katherine L. Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Patrick Neven, William G. Newman, Finn Cilius Nielsen, Liene Ņikitina-Zaķe, Jesse Nodora, Kenneth Offit, Edith Oláh, Olufunmilayo I. Olopade, Håkan Olsson, Nick Orr, Laura Papi, J. Papp, Tjoung‐Won Park‐Simon, Michael T. Parsons, Bernard Peissel, Ana Peixoto, Beth N. Peshkin, Paolo Peterlongo, Julian Peto, Kelly‐Anne Phillips, Marion Piedmonte, Dijana Plaseska‐Karanfilska, Karolina Prajzendanc, Ross Prentice, Darya Prokofyeva, Brigitte Rack, Paolo Radice, Susan J. Ramus, Johanna Rantala, Muhammad Usman Rashid, Gad Rennert, Hedy S. Rennert, Harvey A. Risch, Atocha Romero, Matti A. Rookus, Matthias Rübner, Thomas Rüdiger, Emmanouil Saloustros, Sarah Sampson, Dale P. Sandler, Elinor J. Sawyer, Maren T. Scheuner, Rita K. Schmutzler, Andreas Schneeweiß, Minouk J. Schoemaker, Ben Schöttker, Peter Schürmann, Leigha Senter, Priyanka Sharma, Mark E. Sherman, Xiao-Ou Shu, Christian F. Singer, Snezhana Smichkoska, Penny Soucy, Melissa C. Southey, John J. Spinelli, Jennifer Stone, Dominique Stoppa‐Lyonnet, Anthony J. Swerdlow, Csilla I. Szabo, Rulla M. Tamimi, William Tapper, Jack A. Taylor, Manuel R. Teixeira, Mary Beth Terry, Mads Thomassen, Darcy L. Thull, Marc Tischkowitz, Amanda E. Toland, Rob A.�E.�M. Tollenaar, Ian Tomlinson, Diana Torres, Melissa A. Troester, Thérèse Truong, Nadine Tung, Michael Untch, Celine M. Vachon, Ans M.W. van den Ouweland, Lizet E. van der Kolk, Elke M. van Veen, Elizabeth J. vanRensburg, Ana Vega, Barbara Wappenschmidt, Clarice R. Weinberg, Jeffrey N. Weitzel, Hans Wildiers, Robert Winqvist, Alicja Wolk, Xiaohong R. Yang, Drakoulis Yannoukakos, Wei Zheng, Kristin K. Zorn, Roger L. Milne, Peter Kraft, Jacques Simard, Paul D.P. Pharoah, Kyriaki Michailidou, Antonis C. Antoniou, Marjanka K. Schmidt, Georgia Chenevix‐Trench, Douglas F. Easton, Nilanjan Chatterjee, Montserrat García‐Closas
Bibliographic record
VenueNature Genetics · 2020
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsUniversity of British ColumbiaUniversité LavalCentre hospitalier universitaire de QuébecUniversity of TorontoUniversity Health NetworkRoyal Victoria HospitalMcGill UniversityQueen's UniversityCentre hospitalier de l'Université LavalLunenfeld-Tanenbaum Research InstituteMount Sinai Hospital
FundersNational Institute of Environmental Health SciencesNational Institute of General Medical SciencesNational Cancer InstituteNational Center for Advancing Translational SciencesNational Human Genome Research InstituteNational Heart, Lung, and Blood InstituteMedical Research CouncilDeutsche KrebshilfeCanadian Institutes of Health ResearchAssociazione Italiana per la Ricerca sul CancroGenome CanadaOdense UniversitetshospitalFondation du cancer du sein du QuébecNational Institutes of HealthU.S. Department of Health and Human ServicesOvarian Cancer Research FundEuropean CommissionBreast Cancer Research FoundationGénome QuébecNational Health and Medical Research CouncilCancer Research UKGovernment of Canada
KeywordsBiologyGenome-wide association studyGeneticsBreast cancerComputational biologyGenetic associationGenomeCancerSingle-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)0.002
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: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.003
Threshold uncertainty score0.010
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.002 |
| 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 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.002 |
| Insufficient payload (model declined to judge) | 0.003 | 0.002 |
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 head0.040
GPT teacher head0.349
Teacher spread0.309 · 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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Citations567
Published2020
Admission routes2
Has abstractno