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Record W2134664896 · doi:10.1002/humu.22089

11q13 is a susceptibility locus for hormone receptor positive breast cancer

2012· article· en· W2134664896 on OpenAlexaff
Diether Lambrechts, Thérèse Truong, Christina Justenhoven, Manjeet K. Humphreys, Jean Wang, John L. Hopper, Gillian S. Dite, Carmel Apicella, Melissa C. Southey, Marjanka K. Schmidt, Annegien Broeks, Sten Cornelissen, Richard van Hien, Elinor J. Sawyer, Ian Tomlinson, Michael J. Kerin, Nicola Miller, Roger L. Milne, M. Pilar Zamora, José Ignacio Arias Pérez, Javier Benı́tez, Ute Hamann, Yon‐Dschun Ko, Thomas Brüning, Jenny Chang‐Claude, U Eilber, Rebecca Hein, Stefan Nickels, Dieter Flesch‐Janys, Shan Wang‐Gohrke, Esther M. John, Alexander Miron, Robert Winqvist, Katri Pylkäs, Arja Jukkola‐Vuorinen, Mervi Grip, Georgia Chenevix‐Trench, Jonathan Beesley, kConFab Investigators, F. Ménégaux, Emilie Cordina‐Duverger, Chen‐Yang Shen, Jyh-Cherng Yu, Pei‐Ei Wu, Ming‐Feng Hou, Irene L. Andrulis, Teresa Selander, Gord Glendon, Anna Marie Mulligan, Hoda Anton-Culver, Argyrios Ziogas, Kenneth Muir, Artitaya Lophatananon, Suthee Rattanamongkongul, Puttisak Puttawibul, Michael E. Jones, Alan Ashworth, Anthony J. Swerdlow, Gianluca Severi, Laura Baglietto, Graham G. Giles, F. Marmé, Andreas Schneeweiß, Christof Sohn, Barbara Burwinkel, Betül T. Yesilyurt, Patrick Neven, Robert Paridaens, Hans Wildiers, Hermann Brenner, Heiko Müller, Volker Arndt, Christa Stegmaier, Alfons Meindl, Sarah Schott, Claus R. Bartram, Rita K. Schmutzler, Angela Cox, Ian W. Brock, Graeme Elliott, Simon S. Cross, Peter A. Fasching, R. Schulz-Wendtland, Arif B. Ekici, Matthias W. Beckmann, Olivia Fletcher, Johnson Nichola, Isabel dos‐Santos‐Silva, Julian Peto, Heli Nevanlinna, Taru Muranen, Kristiina Aittomäki, Carl Blomqvist, Thilo Dörk, Peter Schürmann, Michael Bremer, Peter Hillemanns, Natalia Bogdanova, Natalia N. Antonenkova, Yuriy Rogov, Johann H. Karstens, Э. К. Хуснутдинова, Marina Bermisheva, Darya Prokofieva, Shamil Gancev, Anna Jakubowska, Jan Lubiński, Katarzyna Jaworska, Katarzyna Durda, Børge G. Nordestgaard, Stig E. Bojesen, Charlotte Lanng, Vesa Kataja, Veli-Matti Kosma, Jaana M. Hartikainen, Paolo Radice, Paolo Peterlongo, Siranoush Manoukian, Loris Bernard, Fergus J. Couch, Janet E. Olson, Xianshu Wang, Zachary Fredericksen, Grethe Grenaker Alnæs, Vessela Kristensen, Anne‐Lise Børresen‐Dale, Peter Devilee, Robert A.E.M. Tollenaar, Caroline Seynaeve, Maartje J. Hooning, Montserrat García‐Closas, Stephen J. Chanock, Jolanta Lissowska, Mark E. Sherman, Per Hall, Jianjun Liu, Kamila Czene, Daehee Kang, Keun-Young Yoo, Dong‐Young Noh, Annika Lindblom, Sara Margolin, Alison M. Dunning, Paul D.P. Pharoah, Douglas F. Easton, Pascal Guénel, Hiltrud Brauch

Bibliographic record

VenueHuman Mutation · 2012
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsMount Sinai HospitalCancer Care OntarioLunenfeld-Tanenbaum Research InstituteUniversity of Toronto
FundersNational Institutes of HealthNational Cancer InstituteNational Institute for Health and Care ResearchCancer Research UKWellcome Trust
KeywordsBiologyBreast cancerLocus (genetics)Hormone receptorHormoneReceptorCancer researchGeneticsCancerInternal medicineEndocrinologyGene

Abstract

fetched live from OpenAlex

A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, 10, and 11. To provide more reliable estimates of the relative risk associated with these loci and investigate possible heterogeneity by subtype of breast cancer, we genotyped the variants rs2380205, rs1011970, rs704010, rs614367, and rs10995190 in 39 studies from the Breast Cancer Association Consortium (BCAC), involving 49,608 cases and 48,772 controls of predominantly European ancestry. Four of the variants showed clear evidence of association (P ≤ 3 × 10(-9) ) and weak evidence was observed for rs2380205 (P = 0.06). The strongest evidence was obtained for rs614367, located on 11q13 (per-allele odds ratio 1.21, P = 4 × 10(-39) ). The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest for ER plus progesterone receptor (PR)-positive breast cancer, whereas the associations for the other three loci did not differ by tumor subtype.

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 distilled prediction

Teacher imitation

Not 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 categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.199
Threshold uncertainty score0.547

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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 head0.017
GPT teacher head0.312
Teacher spread0.295 · 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 teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
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

Citations38
Published2012
Admission routes1
Has abstractyes

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