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Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
Fergus J. Couch, Xianshu Wang, Lesley McGuffog, Andrew Lee, Curtis Olswold, Karoline B. Kuchenbaecker, Penny Soucy, Zachary Fredericksen, Daniel Barrowdale, Joe Dennis, Mia M. Gaudet, Ed Dicks, Matthew Kosel, Sue Healey, Olga M. Sinilnikova, Adam F. Lee, François Bacot, Daniel Vincent, Frans B. L. Hogervorst, Susan Peock, D Stoppa-Lyonnet, Anna Jakubowska, kConFab Investigators, Paolo Radice, Rita Katharina Schmutzler, Susan M. Domchek, Marion Piedmonte, Christian F. Singer, Eitan Friedman, Mads Thomassen, Thomas van Overeem Hansen, Susan L. Neuhausen, Csilla I. Szabo, Ignacio Blanco, Mark H. Greene, Beth Karlan, Judy E. Garber, Catherine M. Phelan, Jeffrey N. Weitzel, Marco Montagna, Edith Olah, Irene L. Andrulis, Andrew K. Godwin, Drakoulis Yannoukakos, David E. Goldgar, Trinidad Caldés, Heli Nevanlinna, Ana Osório, Mary Beth Terry, Mary B. Daly, Elizabeth J. van Rensburg, U. Hamann, Susan J. Ramus, Amanda Ewart Toland, Maria A. Caligo, Olufunmilayo I. Olopade, Nadine Tung, Kathleen Claes, Mary Beattie, Melissa C. Southey, Evgeny N. Imyanitov, Marc Tischkowitz, Ramūnas Janavičius, Esther M. John, Ava Kwong, Orland Dı́ez, Judith Balmañà, Rósa B. Barkardóttir, Banu Arun, Gad Rennert, Soo‐Hwang Teo, Patricia A. Ganz, Ian Campbell, Annemarie H. van der Hout, Carolien H. M. van Deurzen, Caroline Seynaeve, E. Gómez, Flora E. van Leeuwen, Hanne Meijers‐Heijboer, Margreet G. E. M. Ausems, Marinus J. Blok, Marjolijn J. L. Ligtenberg, Matti A. Rookus, Peter Devilee, Senno Verhoef, Theo A.M. van Os, Juul T. Wijnen, Elena Fineberg, Radka Platte, D. Gareth Evans, Louise Izatt, Rosalind A. Eeles, Julian Adlard, Jackie Cook, Carole Brewer, Fiona Douglas, Shirley Hodgson, Patrick J. Morrison, Lucy Side, Alan Donaldson, Catherine Houghton, Mark T. Rogers, Huw Dorkins, Jacqueline Eason, Helen Gregory, Emma McCann, Alex Murray, Alain Calender, Agnès Hardouin, Pascaline Berthet, Capucine Delnatte, Catherine Noguès, Christine Lasset, Claude Houdayer, Dominique Leroux, Étienne Rouleau, Fabienne Prieur, Francesca Damiola, Hagay Sobol, Isabelle Coupier, Laurence Venat‐Bouvet, Laurent Castéra, Marion Gauthier‐Villars, Mélanie Léoné, Pascal Pujol, Sylvie Mazoyer, Yves‐Jean Bignon, Elżbieta Złowocka-Perłowska, Jacek Gronwald, Jan Lubiński, Katarzyna Durda, Katarzyna Jaworska, Tomasz Huzarski, Amanda B. Spurdle, Alessandra Viel, Bernard Peissel, Bernardo Bonanni, Giulia Melloni, Laura Ottini, Laura Papi, Liliana Varesco, Maria Grazia Tibiletti, Paolo Peterlongo, Sara Volorio, Siranoush Manoukian, Valeria Pensotti, Norbert Arnold, Christoph Engel, Helmut Deißler, Dorothea Gadzicki, Andrea Gehrig, Karin Kast, Kerstin Rhiem, Alfons Meindl, Dieter Niederacher, Nina Ditsch, Hansjoerg Plendl, Sabine Preisler-Adams, Stefanie Engert, Christian Sutter, Raymonda Varon-Mateeva, Barbara Wappenschmidt, Bernhard H. F. Weber, Brita Arver, Marie Stenmark‐Askmalm, Niklas Loman, Richard Rosenquist, Zakaria Einbeigi, Katherine L. Nathanson, Timothy R. Rebbeck, Stephanie V. Blank, David E. Cohn, Gustavo C. Rodriguez, Laurie Small, Michael Friedländer, Victoria Bae‐Jump, Anneliese Fink-Retter, Christine Rappaport, Daphne Gschwantler‐Kaulich, Georg Pfeiler, Muy-Kheng Tea, Noralane M. Lindor, Bella Kaufman, Shani Shimon Paluch, Yael Laitman, Anne‐Bine Skytte, Anne‐Marie Gerdes, Inge Søkilde Pedersen, Sanne Traasdahl Moeller, Torben A. Kruse, Uffe Birk Jensen, Joseph Vijai, Kara Sarrel, Mark E. Robson, Noah D. Kauff, Anna Marie Mulligan, Gord Glendon, Hilmi Özçelik, Bent Ejlertsen, Finn C. Nielsen, Lars Jønson, Mette Klarskov Andersen, Yuan Chun Ding, Linda Steele, Lenka Foretová, Àlex Teulé, Conxi Lázaro, Joan Brunet, Miquel Angel Pujana, Jennifer T. Loud, Christine Walsh, Jenny Lester, Sandra Oršulić, Steven A. Narod, Josef Herzog, Sharon Sand, Silvia Tognazzo, Simona Agata, Vaszko Tibor, JoEllen Weaver, Alexandra Stavropoulou, Saundra S. Buys, Atocha Romero, Miguel de la Hoya, Kristiina Aittomäki, Taru Muranen, M. Durán, Wendy K. Chung, Adriana Lasa, Cecilia M. Dorfling, Alexander Miron, Javier Benítez, Leigha Senter, Dezheng Huo, Salina Chan, Anna P. Sokolenko, Jocelyne Chiquette, Laima Tihomirova, Tara M. Friebel, Bjarni A. Agnarsson, Karen H. Lu, Flavio Lejbkowicz, Paul A. James, Per Hall, Alison M. Dunning, Daniel C. Tessier, Julie Cunningham, Susan L. Slager, Chen Wang, Steven N. Hart, Kristen N. Stevens, Jacques Simard, Tomi Pastinen, V. Shane Pankratz, Kenneth Offit, Douglas F. Easton, Georgia Chenevix‐Trench, Antonis C. Antoniou
Bibliographic record
VenuePLoS Genetics · 2013
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsWomen's College HospitalUniversity of TorontoSt. Michael's HospitalLunenfeld-Tanenbaum Research InstituteMount Sinai HospitalMcGill UniversityMcGill University and Génome Québec Innovation CentreUniversité LavalCentre hospitalier universitaire de Québec
FundersNational Institute of Environmental Health SciencesNorway GrantsMedical Research Councillékařská fakulta Univerzity KarlovyNational Institutes of HealthNational Center for Research ResourcesInstitut Català de la SalutMinistero dello Sviluppo EconomicoIstituto Oncologico VenetoClalit Health ServicesSahlgrenska UniversitetssjukhusetNational Cancer InstituteLandspítali HáskólasjúkrahúsMinistère du Développement Économique, de l’Innovation et de l’ExportationIsrael Cancer AssociationHungarian Scientific Research FundNational Health and Medical Research CouncilMinistério da Ciência, Tecnologia e InovaçãoJewish General HospitalAndrew Sabin Family FoundationLunds UniversitetUniversity of California, San FranciscoMinistero della SaluteCanadian Institutes of Health ResearchUniversity of California, Los AngelesCancerfondenCancer AustraliaEuropean Regional Development FundNational Breast Cancer FoundationRussian Foundation for Basic ResearchCancer Research UKBreast Cancer Research FoundationGeneralitat de CatalunyaNational Institute for Health and Care ResearchUniversity of ChicagoMcGill UniversityUniverzita Karlova v PrazeCanadian Breast Cancer Research AllianceUppsala UniversitetMemorial Sloan-Kettering Cancer CenterInstituto de Salud Carlos IIIOhio State UniversityMayo Clinic
KeywordsBiologyOvarian cancerGenome-wide association studyGeneticsBreast cancerMutationGenetic associationSingle-nucleotide polymorphismCancerGeneGenotype
Abstract
OpenAlex records an abstract for this work, but it could not be fetched just now.
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)0.003
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 score0.003
Threshold uncertainty score0.010
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.003 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 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 head0.010
GPT teacher head0.236
Teacher spread0.227 · 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
Citations391
Published2013
Admission routes2
Has abstractyes