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Record W2092334370 · doi:10.1371/journal.pone.0024987

Functional Polymorphisms in the TERT Promoter Are Associated with Risk of Serous Epithelial Ovarian and Breast Cancers

2011· article· en· W2092334370 on OpenAlexafffund
Jonathan Beesley, Hilda A. Pickett, Sharon E. Johnatty, Alison M. Dunning, Jun Li, Kyriaki Michailidou, Yi Lu, David N. Rider, Rachel T. Palmieri, Michael D. Stutz, Diether Lambrechts, Evelyn Despierre, Sandrina Lambrechts, Ignace Vergote, Jenny Chang‐Claude, Stefan Nickels, Alina Vrieling, Dieter Flesch‐Janys, Shan Wang‐Gohrke, Ursula Eilber, Natalia Bogdanova, Natalia Antonenkova, Ingo B. Runnebaum, Thilo Dörk, Marc T. Goodman, Galina Lurie, Lynne R. Wilkens, Rayna K. Matsuno, Lambertus A. Kiemeney, Katja K.H. Aben, Tamara Marees, Leon F.A.G. Massuger, Brooke L. Fridley, Robert A. Vierkant, Elisa V. Bandera, Sara H. Olson, Irene Orlow, Lorna Rodríguez-Rodríguez, Linda S. Cook, Nhu D. Le, Angela Brooks‐Wilson, Linda E. Kelemen, Ian Campbell, Simon A. Gayther, Susan J. Ramus, Aleksandra Gentry‐Maharaj, Usha Menon, Shahana Ahmed, Caroline Baynes, Paul D.P. Pharoah, kConFab Investigators, Kenneth Muir, Artitaya Lophatananon, Arkom Chaiwerawattana, Surapon Wiangnon, Stuart MacGregor, Douglas F. Easton, Roger R. Reddel, Ellen L. Goode, Georgia Chenevix‐Trench

Bibliographic record

VenuePLoS ONE · 2011
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicNuclear Structure and Function
Canadian institutionsAlberta Health Services
FundersNational Cancer InstituteMedical Research CouncilUniversität UlmUniversity College London Hospitals NHS Foundation TrustMedical Research and Materiel CommandDeutsche KrebshilfeNational Institute for Health and Care ResearchBundesministerium für Bildung und ForschungNational Breast Cancer FoundationBreast Cancer Research TrustCancer Institute NSWNational Health and Medical Research CouncilCancer Research UKDeutsches KrebsforschungszentrumRutgers Cancer Institute of New JerseyCancer Council TasmaniaNational Institutes of HealthOvarian Cancer Research FundCanadian Institutes of Health ResearchOak Foundation
KeywordsSingle-nucleotide polymorphismSNPMinor allele frequencyAlleleSerous fluidBreast cancerBiologyOvarian cancerLocus (genetics)PromoterGenotypeGeneticsCancer researchGeneOncologyMedicineCancerGene expression

Abstract

fetched live from OpenAlex

Genetic variation at the TERT-CLPTM1L locus at 5p15.33 is associated with susceptibility to several cancers, including epithelial ovarian cancer (EOC). We have carried out fine-mapping of this region in EOC which implicates an association with a single nucleotide polymorphism (SNP) within the TERT promoter. We demonstrate that the minor alleles at rs2736109, and at an additional TERT promoter SNP, rs2736108, are associated with decreased breast cancer risk, and that the combination of both SNPs substantially reduces TERT promoter activity.

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)0.000
metaresearch head score (Gemma)0.001
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 score0.002
Threshold uncertainty score0.008

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
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)0.0020.000

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 head0.169
Teacher spread0.152 · 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

Citations57
Published2011
Admission routes2
Has abstractyes

Explore more

Same venuePLoS ONESame topicNuclear Structure and FunctionFrench-language works237,207