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Record W2162490746 · doi:10.1093/jnci/dju267

The Effect on Melanoma Risk of Genes Previously Associated With Telomere Length

2014· article· en· W2162490746 on OpenAlexfundno aff
Mark M. Iles, D. Timothy Bishop, John Taylor, Nicholas K. Hayward, Myriam Brossard, Anne Ε. Cust, Alison M. Dunning, Jeffrey E. Lee, Eric K. Moses, Lars A. Akslen, Per Arne Andresen, Marie‐Françoise Avril, Esther Azizi, Giovanna Bianchi‐Scarrà, Kevin M. Brown, Tadeusz Dębniak, David E. Elder, Eitan Friedman, Paola Ghiorzo, Elizabeth M. Gillanders, Alisa M. Goldstein, Nelleke A. Gruis, Johan Hansson, Mark Harland, Per Helsing, Marko Hočevar, Veronica Höiom, Christian Ingvar, Peter A. Kanetsky, Maria Teresa Landi, Julie Lang, G.M. Lathrop, Jan Lubiński, Rona M. MacKie, Nicholas G. Martin, Anders Molven, Grant W. Montgomery, Srdjan Novaković, Håkan Olsson, Susana Puig, Joan Anton Puig‐Butille, Graham Radford‐Smith, Juliette A. Randerson‐Moor, Nienke van der Stoep, Remco van Doorn, David C. Whiteman, Stuart MacGregor, Karen A. Pooley, Sarah V. Ward, Graham J. Mann, Christopher I. Amos, Paul D.P. Pharoah, Florence Démenais, Matthew H. Law, Julia Newton‐Bishop, Jennifer H. Barrett

Bibliographic record

VenueJNCI Journal of the National Cancer Institute · 2014
Typearticle
Languageen
FieldMedicine
TopicTelomeres, Telomerase, and Senescence
Canadian institutionsnot available
FundersDivision of Cancer Epidemiology and Genetics, National Cancer InstituteCancer Council QueenslandCancer Council NSWMedical Research CouncilUniversity of Texas MD Anderson Cancer CenterNational Institutes of HealthHaukeland UniversitetssjukehusAssistance publique-Hôpitaux de ParisAgència de Gestió d'Ajuts Universitaris i de RecercaNational Health and Medical Research CouncilInstitut National Du CancerInstituto de Salud Carlos IIIMelanoma Institute AustraliaUniversitat de BarcelonaKreftforeningenUniversité Paris DescartesUniversitetet i BergenMinistero dell’Istruzione, dell’Università e della RicercaUniversità degli Studi di GenovaLunds UniversitetCancer Institute NSWCancerfondenCancer AustraliaAustralian Research CouncilPerelman School of Medicine, University of PennsylvaniaUniversiteit LeidenNational Cancer InstituteAustralian Cancer Research FoundationKarolinska InstitutetCancer Council VictoriaUniversity of GlasgowEuropean CommissionWellcome TrustCancer Research UKWestmead Millennium Institute for Medical ResearchMcGill UniversityUniversity of PennsylvaniaQIMR Berghofer Medical Research InstitutePomorski Uniwersytet Medyczny W SzczecinieDartmouth CollegeMelanoma Research Alliance
KeywordsTelomereSingle-nucleotide polymorphismGermlineMelanomaConfoundingBiologyGeneticsCancerCase-control studyGenotypeGeneOncologyMedicineInternal medicine

Abstract

fetched live from OpenAlex

Telomere length has been associated with risk of many cancers, but results are inconsistent. Seven single nucleotide polymorphisms (SNPs) previously associated with mean leukocyte telomere length were either genotyped or well-imputed in 11108 case patients and 13933 control patients from Europe, Israel, the United States and Australia, four of the seven SNPs reached a P value under .05 (two-sided). A genetic score that predicts telomere length, derived from these seven SNPs, is strongly associated (P = 8.92x10(-9), two-sided) with melanoma risk. This demonstrates that the previously observed association between longer telomere length and increased melanoma risk is not attributable to confounding via shared environmental effects (such as ultraviolet exposure) or reverse causality. We provide the first proof that multiple germline genetic determinants of telomere length influence cancer risk.

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)0.006
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 score0.007

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.006
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0010.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.001
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 head0.018
GPT teacher head0.284
Teacher spread0.266 · 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

Citations117
Published2014
Admission routes1
Has abstractyes

Explore more

Same venueJNCI Journal of the National Cancer InstituteSame topicTelomeres, Telomerase, and SenescenceFrench-language works237,207