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Record W2150289510 · doi:10.1093/jnci/djn472

Genetic Heterogeneity of 8q24 Region in Susceptibility to Cancer

2009· letter· en· W2150289510 on OpenAlexaff
Dominika Wokołorczyk, Jan Lubiński, Steven A. Narod, Cezary Cybulski

Bibliographic record

VenueJNCI Journal of the National Cancer Institute · 2009
Typeletter
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsWomen's College Hospital
Fundersnot available
KeywordsGeneticsCancerBiologyEvolutionary biology

Abstract

fetched live from OpenAlex

A region of chromosome 8q24 contains a cluster of single nucleotide polymorphism (SNP) markers that are differentially associated with cancers at a number of different sites. Various SNPs in 8q24.21 region have been reported to be associated with breast, colorectal, and prostate cancers in several studies and in many ethnic groups ( 1–3 ). Most variants were associated with a cancer at a single site; however, one SNP (rs6983267) was associated with both prostate and colon cancers ( 4 ). It is of interest to determine how many distinct susceptibility loci are present in the region, which cancer sites are associated with each locus (and to what degree), and if the basis of the susceptibility is related to the disruption or aberrant expression of any genes in the region or elsewhere in the genome. Ghoussaini et al. ( 5 ) addressed these issues by genotyping nine SNPs from the 8q24 region in prostate, breast, colorectal, and ovarian cancer subjects and controls. After examining haplotype blocks and by estimating odds ratios for different cancers, they proposed that at least five independent loci are within this region. Four loci were site specific (ie, they were associated with increased risk for a cancer at a single site), but one locus, marked by the rs6983267 SNP, was associated with increased risk of prostate, colorectal, and ovarian cancers. In previous studies, the locus was not associated with breast or endometrial cancer or chronic lymphocytic leukemia ( 5 , 6 ).

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: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.005
Threshold uncertainty score0.013

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.003
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0010.001
Science and technology studies0.0010.001
Scholarly communication0.0010.000
Open science0.0010.000
Research integrity0.0050.001
Insufficient payload (model declined to judge)0.0040.001

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 head0.049
GPT teacher head0.348
Teacher spread0.299 · 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

Citations10
Published2009
Admission routes1
Has abstractno

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