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Record W2111440389 · doi:10.1007/s00439-013-1369-1

Genome-wide association study of endometrial cancer in E2C2

2013· article· en· W2111440389 on OpenAlexafffund
Immaculata De Vivo, Jennifer Prescott, Veronica Wendy Setiawan, Sara H. Olson, Nicolas Wentzensen, John Attia, Amanda Black, Louise A. Brinton, Chu Chen, Constance Chen, Linda S. Cook, Marta Crous‐Bou, Jennifer A. Doherty, Alison M. Dunning, Douglas F. Easton, Christine M. Friedenreich, Montserrat García‐Closas, Mia M. Gaudet, Christopher A. Haiman, Susan E. Hankinson, Patricia Hartge, Brian E. Henderson, Elizabeth Holliday, Pamela L. Horn‐Ross, David J. Hunter, Loı̈c Le Marchand, Xiaolin Liang, Jolanta Lissowska, Jirong Long, Lingeng Lu, Anthony M. Magliocco, Mark McEvoy, Tracy A. O’Mara, Irene Orlow, Jodie N. Painter, Loreall Pooler, Radhai Rastogi, Timothy R. Rebbeck, Harvey A. Risch, Carlotta Sacerdote, Fredrick R. Schumacher, Rodney J. Scott, Xin Sheng, Xiao‐Ou Shu, Amanda B. Spurdle, Deborah J. Thompson, David VanDen Berg, Noel S. Weiss, Lucy Xia, Yong‐Bing Xiang, Hannah Yang, Herbert Yu, Wei Zheng, Stephen J. Chanock, Peter Kraft

Bibliographic record

VenueHuman Genetics · 2013
Typearticle
Languageen
FieldMedicine
TopicGenetic factors in colorectal cancer
Canadian institutionsAlberta Health Services
FundersNational Cancer InstituteMedical Research CouncilRegione PiemonteAlberta InnovatesAlberta Health ServicesHunter Medical Research InstituteAlberta Cancer FoundationAssociazione Italiana per la Ricerca sul CancroNational Institutes of HealthCanada Research ChairsQIMR Berghofer Medical Research InstituteNational Health and Medical Research CouncilVincent Fairfax Family FoundationCancer Research UKWellcome Trust
KeywordsBiologySingle-nucleotide polymorphismGeneticsEndometrial cancerGenome-wide association studyAncestry-informative markerGenetic associationLocus (genetics)DiseasePopulationCancerGeneGenotypeInternal medicineDemographyMedicine

Abstract

fetched live from OpenAlex

Endometrial cancer (EC), a neoplasm of the uterine epithelial lining, is the most common gynecological malignancy in developed countries and the fourth most common cancer among US women. Women with a family history of EC have an increased risk for the disease, suggesting that inherited genetic factors play a role. We conducted a two-stage genome-wide association study of Type I EC. Stage 1 included 5,472 women (2,695 cases and 2,777 controls) of European ancestry from seven studies. We selected independent single-nucleotide polymorphisms (SNPs) that displayed the most significant associations with EC in Stage 1 for replication among 17,948 women (4,382 cases and 13,566 controls) in a multiethnic population (African America, Asian, Latina, Hawaiian and European ancestry), from nine studies. Although no novel variants reached genome-wide significance, we replicated previously identified associations with genetic markers near the HNF1B locus. Our findings suggest that larger studies with specific tumor classification are necessary to identify novel genetic polymorphisms associated with EC susceptibility.

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)0.001
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 score0.009
Threshold uncertainty score0.018

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.003
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0010.001
Science and technology studies0.0010.000
Scholarly communication0.0010.000
Open science0.0000.000
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0010.000

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 head0.035
GPT teacher head0.314
Teacher spread0.279 · 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

Citations48
Published2013
Admission routes2
Has abstractyes

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