MétaCan
Menu
Back to cohort
Record W3173957118 · doi:10.1158/1055-9965.epi-20-1817

Identification of a Locus Near <i>ULK1</i> Associated With Progression-Free Survival in Ovarian Cancer

2021· article· en· W3173957118 on OpenAlexafffund
Michael C. Quinn, Karen McCue, Wei Shi, Sharon E. Johnatty, Jonathan Beesley, Andrew Civitarese, Tracy A. O’Mara, Dylan M. Glubb, Jonathan P. Tyrer, Sebastian M. Armasu, Jue‐Sheng Ong, Puya Gharahkhani, Yi Lu, Bo Gao, Ann‐Marie Patch, Peter A. Fasching, Matthias W. Beckmann, Diether Lambrechts, Ignace Vergote, Digna R. Velez Edwards, Alicia Beeghly‐Fadiel, Javier Benı́tez, María J. García, Marc T. Goodman, Thilo Dörk, Matthias Dürst, Francesmary Modugno, Kirsten B. Moysich, Andreas du Bois, Jacobus Pfisterer, Klaus Bauman, Beth Y. Karlan, Jenny Lester, Julie M. Cunningham, Melissa C. Larson, Bryan M. McCauley, Susanne K. Kjær, Allan Jensen, Claus Høgdall, Estrid Høgdall, Joellen M. Schildkraut, Marjorie J. Riggan, Andrew Berchuck, Daniel W. Cramer, Kathryn L. Terry, Line Bjørge, Penelope M. Webb, Michael Friedländer, Tanja Pejović, Melissa Moffitt, Rosalind Glasspool, Taymaa May, Gabrielle Ene, David G. Huntsman, Michelle Woo, Michael E. Carney, Samantha Hinsley, Florian Heitz, Sián Fereday, Catherine J. Kennedy, Stacey L. Edwards, Stacey J. Winham, Anna DeFazio, Paul D.P. Pharoah, Ellen L. Goode, Stuart MacGregor, Georgia Chenevix‐Trench

Bibliographic record

VenueCancer Epidemiology Biomarkers & Prevention · 2021
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCancer-related molecular mechanisms research
Canadian institutionsCanadian Centre for Applied Research in Cancer ControlUniversity of British ColumbiaBC Cancer AgencyPrincess Margaret Cancer Centre
FundersCongressionally Directed Medical Research ProgramsNational Cancer InstituteNational Center for Research ResourcesCentre for Intervention Science in Maternal and Child Health, University of BergenInstituto de Salud Carlos IIINational Center for Advancing Translational SciencesMedical Research CouncilDepartment of Defence, Australian GovernmentCanadian Institutes of Health ResearchHelse VestMinisterio de Economía y CompetitividadGénome QuébecUniversitetet i BergenMcGill UniversityMayo Foundation for Medical Education and ResearchUniversity of LeedsHaukeland UniversitetssjukehusFred C. and Katherine B. Andersen FoundationMedical Research and Materiel CommandGeorgia Clinical and Translational Science AllianceU.S. Department of DefenseBreast Cancer Research FoundationOregon Health and Science UniversityVanderbilt UniversityNational Institutes of HealthOvarian Cancer Research FundNational Health and Medical Research CouncilNorges ForskningsrådCancer Research UKMinnesota Ovarian Cancer Alliance
KeywordsOvarian cancerMedicineOncologyIdentification (biology)Progression-free survivalLocus (genetics)Internal medicineCancerOverall survivalBiologyGeneticsGene

Abstract

fetched live from OpenAlex

Abstract Background: Many loci have been found to be associated with risk of epithelial ovarian cancer (EOC). However, although there is considerable variation in progression-free survival (PFS), no loci have been found to be associated with outcome at genome-wide levels of significance. Methods: We carried out a genome-wide association study (GWAS) of PFS in 2,352 women with EOC who had undergone cytoreductive surgery and standard carboplatin/paclitaxel chemotherapy. Results: We found seven SNPs at 12q24.33 associated with PFS (P < 5 × 10–8), the top SNP being rs10794418 (HR = 1.24; 95% CI, 1.15–1.34; P = 1.47 × 10–8). High expression of a nearby gene, ULK1, is associated with shorter PFS in EOC, and with poor prognosis in other cancers. SNP rs10794418 is also associated with expression of ULK1 in ovarian tumors, with the allele associated with shorter PFS being associated with higher expression, and chromatin interactions were detected between the ULK1 promoter and associated SNPs in serous and endometrioid EOC cell lines. ULK1 knockout ovarian cancer cell lines showed significantly increased sensitivity to carboplatin in vitro. Conclusions: The locus at 12q24.33 represents one of the first genome-wide significant loci for survival for any cancer. ULK1 is a plausible candidate for the target of this association. Impact: This finding provides insight into genetic markers associated with EOC outcome and potential treatment options. See related commentary by Peres and Monteiro, p. 1604

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 score0.003
Threshold uncertainty score0.009

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0030.000

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 head0.027
GPT teacher head0.357
Teacher spread0.330 · 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

Citations13
Published2021
Admission routes2
Has abstractyes

Explore more

Same venueCancer Epidemiology Biomarkers & PreventionSame topicCancer-related molecular mechanisms researchFrench-language works237,207