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Record W3161420844 · doi:10.17863/cam.79953

Common variants in breast cancer risk loci predispose to distinct tumor subtypes.

2021· preprint· en· W3161420844 on OpenAlexafffund
Thomas U. Ahearn, Haoyu Zhang, Kyriaki Michailidou, Roger L. Milne, Manjeet K. Bolla, Joe Dennis, Alison M. Dunning, Michael Lush, Qin Wang, Irene L. Andrulis, Hoda Anton‐Culver, Volker Arndt, Kristan J. Aronson, Paul L. Auer, Annelie Augustinsson, Adinda Baten, Heiko Becher, Sabine Behrens, Javier Benı́tez, Marina Bermisheva, Carl Blomqvist, Stig E. Bojesen, Bernardo Bonanni, Anne‐Lise Børresen‐Dale, Hiltrud Brauch, Hermann Brenner, Angela Brooks‐Wilson, Thomas Brüning, Barbara Burwinkel, Saundra S. Buys, Federico Canzian, Jose E. Castelao, Jenny Chang‐Claude, Stephen J. Chanock, Georgia Chenevix‐Trench, Christine L. Clarke, Margriet Collée, Angela Cox, Simon S. Cross, Kamila Czene, Mary B. Daly, Peter Devilee, Thilo Dörk, Miriam Dwek, D. Gareth Evans, Peter A. Fasching, Jonine D. Figueroa, Giuseppe Floris, Manuela Gago-Domínguez, Susan M. Gapstur, José Á. García-Sáenz, Mia M. Gaudet, Graham G. Giles, Mark S. Goldberg, Anna González‐Neira, Mervi Grip, Pascal Guénel, Christopher A. Haiman, Per Hall, Ute Hamann, Elaine F. Harkness, Bernadette A. M. Heemskerk‐Gerritsen, Bernd Holleczek, Antoinette Hollestelle, Maartje J. Hooning, Robert N. Hoover, John L. Hopper, Anthony Howell, Milena Jakimovska, Anna Jakubowska, Esther M. John, Michael E. Jones, Audrey Jung, Rudolf Kaaks, Saila Kauppila, Renske Keeman, Э. К. Хуснутдинова, Cari M. Kitahara, Yon‐Dschun Ko, Stella Koutros, Vessela N. Kristensen, Ute Krüger, Katerina Kubelka‐Sabit, Allison W. Kurian, Kyriacos Kyriacou, Diether Lambrechts, Derrick G. Lee, Annika Lindblom, Martha S. Linet, Jolanta Lissowska, Ana Llaneza, Wing‐Yee Lo, Robert J. MacInnis, Graham J. Mann, Mehdi Manoochehri, Sara Margolin, Marı́a Elena Martı́nez, Catriona McLean, Usha Menon, Heli Nevanlinna, Jesse Nodora, Kenneth Offit, Håkan Olsson, Nick Orr, Tjoung‐Won Park‐Simon, Alpa V. Patel, Julian Peto, Guillermo Pita, Dijana Plaseska‐Karanfilska, Ross L. Prentice, Kevin Punie, Katri Pylkäs, Paolo Radice, Gad Rennert, Atocha Romero, Thomas Rüdiger, Emmanouil Saloustros, Sarah Sampson, Dale P. Sandler, Elinor J. Sawyer, Rita K. Schmutzler, Minouk J. Schoemaker, Ben Schöttker, Mark E. Sherman, Xiao-Ou Shu, Snezhana Smichkoska, Melissa C. Southey, John J. Spinelli, Anthony J. Swerdlow, Rulla M. Tamimi, William Tapper, Jack A. Taylor, Lauren R. Teras, Mary Beth Terry, Diana Torres, Melissa A. Troester, Celine M. Vachon, Carolien H. M. van Deurzen, Elke M. van Veen, Philippe Wagner, Clarice R. Weinberg, Camilla Wendt, Jelle Wesseling, Robert Winqvist, Alicja Wolk, Xiaohong R. Yang, Wei Zheng, Fergus J. Couch, Jacques Simard, Peter Kraft, Douglas F. Easton, Paul D.P. Pharoah, Marjanka K. Schmidt, Montserrat García‐Closas, Nilanjan Chatterjee

Bibliographic record

VenueApollo (University of Cambridge) · 2021
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsUniversité LavalUniversity of British ColumbiaSimon Fraser UniversityMcGill UniversityQueen's UniversityMount Sinai HospitalLunenfeld-Tanenbaum Research InstituteRoyal Victoria HospitalCentre hospitalier universitaire de QuébecSt. Francis Xavier UniversityBC Cancer AgencyUniversity of Toronto
FundersMailman School of Public Health, Columbia UniversityNational Cancer InstituteServicio Gallego de SaludUniversitätsklinikum Hamburg-EppendorfCanadian Institutes of Health ResearchUniversity of California, IrvineUniversity of North Carolina at Chapel HillWeill Cornell Medical CollegeVanderbilt-Ingram Cancer CenterNational Institutes of HealthQueen's University BelfastCentro de Investigación Biomédica en Red de CáncerUniversitätsklinikum KölnUniversität zu KölnPontificia Universidad JaverianaDeutsches KrebsforschungszentrumClalit Health ServicesOdense UniversitetshospitalHarvard T.H. Chan School of Public HealthKarolinska InstitutetNational Health and Medical Research CouncilOulun YliopistoLineberger Comprehensive Cancer Center, University of North Carolina at Chapel HillDeutsche KrebshilfeUniversity of TorontoJohns Hopkins Bloomberg School of Public HealthUniversity of EdinburghQueen's UniversityNational Human Genome Research InstituteCancer Council VictoriaSchool of Medicine, Vanderbilt UniversityUniversity of MelbourneSchool of Medicine, Stanford UniversityInstitut National de la Santé et de la Recherche MédicaleUniversität HeidelbergBiocenter, University of OuluNational Institute for Health and Care ResearchGovernment of CanadaUniversity of Southern CaliforniaCancer Research UKGénome QuébecInstituto de Investigación Sanitaria de Santiago de CompostelaPomorski Uniwersytet Medyczny W SzczecinieAssociazione Italiana per la Ricerca sul CancroGenome CanadaErasmus Universitair Medisch Centrum RotterdamEuropean CommissionUniversité LavalHelsingin YliopistoMedical Research CouncilUppsala UniversitetUniversity of California, San DiegoJohns Hopkins UniversityMemorial Sloan-Kettering Cancer CenterFondation du cancer du sein du QuébecCentre Hospitalier Universitaire de QuébecManchester Biomedical Research CentreMonash UniversityUniversity of Wisconsin-MilwaukeeOvarian Cancer Research FundMcGill UniversityBreast Cancer Research FoundationLunds UniversitetKing's College LondonVanderbilt UniversityStanford Cancer InstituteCancer Research Institute
KeywordsBreast cancerGenome-wide association studyEstrogen receptorBiologyOncologyCancerGenetic associationLogistic regressionInternal medicineGeneticsSingle-nucleotide polymorphismMedicineGeneGenotype

Abstract

fetched live from OpenAlex

BACKGROUND: Genome-wide association studies (GWAS) have identified multiple common breast cancer susceptibility variants. Many of these variants have differential associations by estrogen receptor (ER) status, but how these variants relate with other tumor features and intrinsic molecular subtypes is unclear. METHODS: Among 106,571 invasive breast cancer cases and 95,762 controls of European ancestry with data on 173 breast cancer variants identified in previous GWAS, we used novel two-stage polytomous logistic regression models to evaluate variants in relation to multiple tumor features (ER, progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) and grade) adjusting for each other, and to intrinsic-like subtypes. RESULTS: Eighty-five of 173 variants were associated with at least one tumor feature (false discovery rate

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not 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)0.003
metaresearch head score (Gemma)0.009
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 score0.005
Threshold uncertainty score0.017

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0030.009
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.002
Bibliometrics0.0010.002
Science and technology studies0.0000.001
Scholarly communication0.0010.000
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0050.000

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 head0.007
GPT teacher head0.232
Teacher spread0.225 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine 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

Citations6
Published2021
Admission routes2
Has abstractyes

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