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Record W2068526813 · doi:10.1186/1471-2350-12-156

Meta-analysis of 8q24 for seven cancers reveals a locus between NOV and ENPP2 associated with cancer development

2011· review· en· W2068526813 on OpenAlexaff
Abra Brisbin, Yan W. Asmann, Honglin Song, Ya-Yu Tsai, Jeremiah A. Aakre, Ping Yang, Robert B. Jenkins, Paul D.P. Pharoah, Fredrick R. Schumacher, David V. Conti, David Duggan, Mark A. Jenkins, John L. Hopper, Steven Gallinger, Polly A. Newcomb, Graham Casey, Thomas A. Sellers, Brooke L. Fridley

Bibliographic record

VenueBMC Medical Genetics · 2011
Typereview
Languageen
FieldMedicine
TopicGenetic factors in colorectal cancer
Canadian institutionsLunenfeld-Tanenbaum Research InstituteMount Sinai Hospital
FundersNational Institute of Neurological Disorders and StrokeNational Institute of General Medical SciencesNational Cancer InstituteNational Institutes of HealthMayo Foundation for Medical Education and Research
KeywordsBiologyLocus (genetics)Genome-wide association studySingle-nucleotide polymorphismPancreatic cancerChromosomal regionBreast cancerProstate cancerGeneticsColorectal cancerCancerOncogeneQuantitative trait locusHuman geneticsGeneGenetic associationInternal medicineOncologyGenotypeMedicineCell cycle

Abstract

fetched live from OpenAlex

BACKGROUND: Human chromosomal region 8q24 contains several genes which could be functionally related to cancer, including the proto-oncogene c-MYC. However, the abundance of associations around 128 Mb on chromosome 8 could mask the appearance of a weaker, but important, association elsewhere on 8q24. METHODS: In this study, we completed a meta-analysis of results from nine genome-wide association studies for seven types of solid-tumor cancers (breast, prostate, pancreatic, lung, ovarian, colon, and glioma) to identify additional associations that were not apparent in any individual study. RESULTS: Fifteen SNPs in the 8q24 region had meta-analysis p-values < 1E-04. In particular, the region consisting of 120,576,000-120,627,000 bp contained 7 SNPs with p-values < 1.0E-4, including rs6993464 (p = 1.25E-07). This association lies in the region between two genes, NOV and ENPP2, which have been shown to play a role in tumor development and motility. An additional region consisting of 5 markers from 128,478,000 bp - 128,524,000 (around gene POU5F1B) had p-values < 1E-04, including rs6983267, which had the smallest p-value (p = 6.34E-08). This result replicates previous reports of association between rs6983267 and prostate and colon cancer. CONCLUSIONS: Further research in this area is warranted as these results demonstrate that the chromosomal region 8q24 may contain a locus that influences general cancer susceptibility between 120,576 and 120,630 kb.

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)0.007
metaresearch head score (Gemma)0.012
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Meta-analysis · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: none
Teacher disagreement score0.007
Threshold uncertainty score0.035

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0070.012
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0030.019
Bibliometrics0.0030.005
Science and technology studies0.0010.001
Scholarly communication0.0020.001
Open science0.0010.002
Research integrity0.0010.002
Insufficient payload (model declined to judge)0.0030.000

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 head0.332
GPT teacher head0.410
Teacher spread0.077 · 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 designMeta-analysis
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".

Quick stats

Citations44
Published2011
Admission routes1
Has abstractyes

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