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Record W653618772 · doi:10.1038/ncomms8207

TCF12 is mutated in anaplastic oligodendroglioma

2015· article· en· W653618772 on OpenAlexafffund
Karim Labrèche, Iva Simeonova, Aurélie Kamoun, Vincent Gleize, Daniel Chubb, Éric Letouzé, Yasser Riazalhosseini, Sara E. Dobbins, Nabila Elarouci, François Ducray, Aurélien de Reyniès, Diana Zélénika, Christopher P. Wardell, Mathew Frampton, Olivier Saulnier, Tomi Pastinen, Sabrina Hallout, Dominique Figarella‐Branger, Caroline Dehais, Ahmed Idbaïh, Karima Mokhtari, Jean‐Yves Delattre, Emmanuelle Huillard, G.M. Lathrop, Marc Sanson, Richard S. Houlston, Clovis Adam, Marie Andraud, Marie‐Hélène Aubriot‐Lorton, Luc Bauchet, Patrick Beauchesne, Claire Bléchet, Mario Campone, Alain Carpentier, Ioana Carpiuc, Marie‐Pierre Chenard, Danchristian Chiforeanu, Olivier Chinot, Elisabeth Cohen-Moyal, Philippe Colin, Phong Dam‐Hieu, C. Desenclos, Nicolas Desse, F. Dhermain, Marie-Danièle Diébold, Sandrine Eimer, Thierry Faillot, M. Fesneau, Denys Fontaine, Guillaume Gauchotte, Claude Gaultier, François Ghiringhelli, Edouard Marcel Gueye, Jean Sébastien Guillamo, Selma Hamdi-Elouadhani, Jérôme Honnorat, Jean Louis Kémény, T Khallil, Anne Jouvet, François Labrousse, O. Langlois, Annie Laquerrière, Emmanuèle Lechapt, C. Le Guérinel, P. Levillain, Hugues Loiseau, Delphine Loussouarn, Claude-Alain Maurage, Philippe Meneï, Marie Janette Motsuo Fotso, G. Noël, Fabrice Parker, Michel Péoc’h, Marc Polivka, Isabelle Quintin‐Roué, Carole Ramirez, Damien Ricard, Pomone Richard, Valérie Rigau, Audrey Rousseau, Gwenaëlle Runavot, Henri Sevestre, M.-C. Tortel, Emmanuelle Uro‐Coste, Fanny Burel‐Vandenbos, Élodie Vauléon, G. Viennet, Chiara Villa, Michel Wager

Bibliographic record

VenueNature Communications · 2015
Typearticle
Languageen
FieldMedicine
TopicGlioma Diagnosis and Treatment
Canadian institutionsMcGill UniversityMcGill University and Génome Québec Innovation Centre
FundersFP7 People: Marie-Curie ActionsAgence Nationale de la RechercheNational Human Genome Research InstituteFondation ARC pour la Recherche sur le CancerInstitut National Du CancerInstitut National de la Santé et de la Recherche MédicaleCereal Partners WorldwideAssistance publique-Hôpitaux de ParisEuropean CommissionNational Cancer InstituteCancer Research UKMcGill University
KeywordsFrameshift mutationBiologyExome sequencingMutationOligodendrogliomaExomeGeneticsGermline mutationTranscription factorCancer researchGeneGliomaAstrocytoma

Abstract

fetched live from OpenAlex

Anaplastic oligodendroglioma (AO) are rare primary brain tumours that are generally incurable, with heterogeneous prognosis and few treatment targets identified. Most oligodendrogliomas have chromosomes 1p/19q co-deletion and an IDH mutation. Here we analysed 51 AO by whole-exome sequencing, identifying previously reported frequent somatic mutations in CIC and FUBP1. We also identified recurrent mutations in TCF12 and in an additional series of 83 AO. Overall, 7.5% of AO are mutated for TCF12, which encodes an oligodendrocyte-related transcription factor. Eighty percent of TCF12 mutations identified were in either the bHLH domain, which is important for TCF12 function as a transcription factor, or were frameshift mutations leading to TCF12 truncated for this domain. We show that these mutations compromise TCF12 transcriptional activity and are associated with a more aggressive tumour type. Our analysis provides further insights into the unique and shared pathways driving AO.

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 score0.004
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
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

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 head0.043
GPT teacher head0.345
Teacher spread0.302 · 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

Citations70
Published2015
Admission routes2
Has abstractyes

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