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Record W2135783923 · doi:10.1210/jcem.86.8.7725

A Comprehensive Analysis of<i>MNG1</i>,<i>TCO1</i>,<i>fPTC</i>,<i>PTEN</i>,<i>TSHR</i>, and TRKA in Familial Nonmedullary Thyroid Cancer: Confirmation of Linkage to TCO1

2001· article· he· W2135783923 on OpenAlexaff
Steve Bevan, Tuya Pal, C. R. Greenberg, H. Green, Julie A. Wixey, Graham R. Bignell, Steven A. Narod, William D. Foulkes, Michael R. Stratton, Richard S. Houlston

Bibliographic record

VenueThe Journal of Clinical Endocrinology & Metabolism · 2001
Typearticle
Languagehe
FieldMedicine
TopicThyroid Cancer Diagnosis and Treatment
Canadian institutionsMcGill UniversityHealth Sciences CentreJewish General HospitalMontreal General HospitalWomen's College HospitalUniversity of Toronto
Fundersnot available
KeywordsPTENThyroid cancerMedicineGenetic linkageThyroidPapillary thyroid cancerDiseaseThyroid carcinomaCancer researchCancerInternal medicineOncologyGeneGeneticsBiologyPI3K/AKT/mTOR pathwaySignal transduction

Abstract

fetched live from OpenAlex

About 5% of nonmedullary thyroid cancer is familial. These familial nonmedullary thyroid cancer cases are characterized by an earlier age of onset, more aggressive phenotype, and in some families a high propensity to benign thyroid disease. Little is known about the genes conferring predisposition to nonmedullary thyroid cancer. Three loci have been identified through genetic linkage: MNG1 on 14q32, TCO1 on 19p13.2, and fPTC on 1p21. In addition to these putative genes, a number of loci represent candidate familial nonmedullary thyroid cancer predisposition genes by virtue of their involvement in sporadic disease (TRKA), their role in benign disease (TSHR), and because they underlie syndromes with a risk of nonmedullary thyroid cancer (PTEN). To evaluate the roles of MNG1, TCO1, fPTC, PTEN, TSHR, and TRKA in familial nonmedullary thyroid cancer, we have carried out a comprehensive mutation and linkage analysis of these genes in 22 families. One family was linked to chromosome 19q13.2, confirming that TCO1 underlies a subset of familial nonmedullary thyroid cancer. None of the families was linked to MNG1 or fPTC, and there was no evidence to support the roles of PTEN, TSHR, or TRKA. Familial nonmedullary thyroid cancer is an emerging clinical phenotype that is genetically heterogeneous, and none of the currently identified genes accounts for the majority of families.

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)0.003
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.161
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0030.001
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0070.002
Bibliometrics0.0020.003
Science and technology studies0.0000.001
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0010.002
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 head0.055
GPT teacher head0.399
Teacher spread0.344 · 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.

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

Citations76
Published2001
Admission routes1
Has abstractyes

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Same venueThe Journal of Clinical Endocrinology & MetabolismSame topicThyroid Cancer Diagnosis and TreatmentFrench-language works237,207