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Record W3200006128 · doi:10.1101/2021.09.16.21262993

Prognostic and Immunological Significance of ARID1A Status in Endometriosis-Associated Ovarian Carcinoma

2021· preprint· en· W3200006128 on OpenAlexafffundabout
Karolin Heinze, Tayyebeh M. Nazeran, Sandra Lee, Pauline Krämer, Evan S. Cairns, Derek S. Chiu, Samuel Leung, Eun Young Kang, Nicola S. Meagher, Catherine J. Kennedy, Jessica Boros, Friedrich Kommoss, Hans‐Walter Vollert, Florian Heitze, Andreas du Bois, Philipp Harter, Marcel Grube, Bernhard Kraemer, Annette Staebler, F. Kommoss, Sabine Heublein, Hans‐Peter Sinn, Naveena Singh, Angela Laslavic, Esther Elishaev, Alex Olawaiye, Kirsten B. Moysich, Francesmary Modugno, Raghwa Sharma, Alison H. Brand, Paul R. Harnett, Anna DeFazio, Renée T. Fortner, Jan Lubiński, Marcin Lener, Aleksandra Tołoczko‐Grabarek, Cezary Cybulski, Helena Gronwald, Jacek Gronwald, Penny Coulson, Mona El‐Bahrawy, Michael E. Jones, Minouk J. Schoemaker, Anthony J. Swerdlow, Kylie L. Gorringe, Ian Campbell, Linda S. Cook, Simon A. Gayther, Michael E. Carney, Yurii B. Shvetsov, Brenda Y. Hernandez, Lynne R. Wilkens, Marc T. Goodman, Constantina Mateoiu, Anna Linder, Karin Sundfeldt, Linda E. Kelemen, Aleksandra Gentry‐Maharaj, Martin Widschwendter, Usha Menon, Kelly L. Bolton, Jennifer Alsop, Mitul Shah, Mercedes Jimenez‐Liñan, Paul D.P. Pharoah, James D. Brenton, Kara L. Cushing‐Haugen, Holly R. Harris, Jennifer A. Doherty, C. Blake Gilks, Prafull Ghatage, David G. Huntsman, Gregg Nelson, Anna V. Tinker, Cheng‐Han Lee, Ellen L. Goode, Brad H. Nelson, Susan J. Ramus, Stefan Kommoss, Aline Talhouk, Martin Köbel, Michael S. Anglesio

Bibliographic record

VenuemedRxiv · 2021
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicChromatin Remodeling and Cancer
Canadian institutionsUniversity of AlbertaUniversity of CalgaryVancouver General HospitalUniversity of British ColumbiaCalgary Laboratory ServicesBC Cancer Agency
FundersMedical Research and Materiel CommandNational Cancer InstituteCanadian Institutes of Health ResearchNational Institutes of HealthBC Cancer FoundationMedical Research CouncilSwedish Cancer FoundationTerry Fox Research InstituteNational Center for Research ResourcesCancer Institute NSWBundesministerium für Bildung und ForschungNational Institute for Health and Care ResearchHorizon 2020 Framework ProgrammeUniversity of CambridgeCancer Research UKMichael Smith Health Research BCUniversité de MontréalDeutsches KrebsforschungszentrumCalgary Laboratory Services
KeywordsARID1AClear cell carcinomaCD8EndometriosisCancer researchImmune systemOncologyBiologyInternal medicineMedicineCarcinomaMutationImmunologyGeneGenetics

Abstract

fetched live from OpenAlex

Abstract ARID1A (BAF250a) is a component of the SWI/SNF chromatin modifying complex, plays an important tumor suppressor role, and is considered prognostic in several malignancies. However, in ovarian carcinomas there are contradictory reports on its relationship to outcome, immune response, and correlation with clinicopathological features. We assembled a series of 1623 endometriosis-associated ovarian carcinomas, including 1078 endometrioid (ENOC) and 545 clear cell (CCOC) ovarian carcinomas through combining resources of the Ovarian Tumor Tissue Analysis (OTTA) Consortium, the Canadian Ovarian Unified Experimental Resource (COEUR), local, and collaborative networks. Validated immunohistochemical surrogate assays for ARID1A mutations were applied to all samples. We investigated associations between ARID1A loss/mutation, clinical features, outcome, CD8+ tumor-infiltrating lymphocytes (CD8+ TIL), and DNA mismatch repair deficiency (MMRd). ARID1A loss was observed in 42% of CCOC and 25% of ENOC. We found no associations between ARID1A loss and outcomes, stage, age, or CD8+ TIL status in CCOC. Similarly, we found no association with outcome or stage in endometrioid cases. In ENOC, ARID1A loss was more prevalent in younger patients (p=0.012), and associated with MMRd (p<0.001), and presence of CD8+ TIL (p=0.008). Consistent with MMRd being causative of ARID1A mutations, in a subset of ENOC we also observed an association between ARID1A loss-of-function mutation as a result of small indels (p=0.011, vs. single nucleotide variants). In ENOC, the association between ARID1A loss, CD8+ TIL, and age, appears confounded by MMRd status. Although this observation does not explicitly rule out a role for ARID1A influence on CD8+ TIL infiltration in ENOC, given current knowledge regarding MMRd, it seems more likely that effects are dominated by the hypermutation phenotype. This large dataset with consistently applied biomarker assessment now provides a benchmark for the prevalence of ARID1A loss-of-function mutations in endometriosis-associated ovarian cancers and brings clarity to the prognostic significance.

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)0.000
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation 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 score0.319
Threshold uncertainty score0.844

Codex and Gemma teacher scores by category

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)0.0000.000

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 head0.018
GPT teacher head0.252
Teacher spread0.235 · 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.

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

Citations4
Published2021
Admission routes3
Has abstractyes

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