Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort
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Prédiction distillée sur la base complète
Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
- Catégories candidates
- aucune
- Catégories consensuelles
- aucune
- Domaine
- Signal candidat: aucuneSignal consensuel: aucune
- Devis d'étude
- Signal candidat: ObservationnelSignal consensuel: Observationnel
- Genre
- Signal candidat: EmpiriqueSignal consensuel: Empirique
- Score de désaccord entre enseignants
- 0,055
- Score d'incertitude au seuil
- 0,284
- Statut de validation
machine_predicted_unvalidated·codex-gemma-dda1882f352a
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,001 | 0,000 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,001 | 0,000 |
| Bibliométrie | 0,000 | 0,000 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,000 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 0,000 |
Scores machine (provisoires)
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
- Écart entre enseignants
- 0,341 · la distance entre les deux têtes enseignantes sur ce seul travail
- Statut de validation
score_only:v0-immature-baseline· tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découle
Résumé
BACKGROUND: Medulloblastoma is associated with rare hereditary cancer predisposition syndromes; however, consensus medulloblastoma predisposition genes have not been defined and screening guidelines for genetic counselling and testing for paediatric patients are not available. We aimed to assess and define these genes to provide evidence for future screening guidelines. METHODS: ). Medulloblastoma predisposition genes were predicted on the basis of rare variant burden tests against controls without a cancer diagnosis from the Exome Aggregation Consortium (ExAC). Previously defined somatic mutational signatures were used to further classify medulloblastoma genomes into two groups, a clock-like group (signatures 1 and 5) and a homologous recombination repair deficiency-like group (signatures 3 and 8), and chromothripsis was investigated using previously established criteria. Progression-free survival and overall survival were modelled for patients with a genetic predisposition to medulloblastoma. FINDINGS: molecular subgroups and were associated with mutational signatures typical of homologous recombination repair deficiency. In patients with a genetic predisposition to medulloblastoma, 5-year progression-free survival was 52% (95% CI 40-69) and 5-year overall survival was 65% (95% CI 52-81); these survival estimates differed significantly across patients with germline mutations in different medulloblastoma predisposition genes. INTERPRETATION: because these patients have the highest prevalence of damaging germline mutations in known cancer predisposition genes. We propose criteria for routine genetic screening for patients with medulloblastoma based on clinical and molecular tumour characteristics. FUNDING: German Cancer Aid; German Federal Ministry of Education and Research; German Childhood Cancer Foundation (Deutsche Kinderkrebsstiftung); European Research Council; National Institutes of Health; Canadian Institutes for Health Research; German Cancer Research Center; St Jude Comprehensive Cancer Center; American Lebanese Syrian Associated Charities; Swiss National Science Foundation; European Molecular Biology Organization; Cancer Research UK; Hertie Foundation; Alexander and Margaret Stewart Trust; V Foundation for Cancer Research; Sontag Foundation; Musicians Against Childhood Cancer; BC Cancer Foundation; Swedish Council for Health, Working Life and Welfare; Swedish Research Council; Swedish Cancer Society; the Swedish Radiation Protection Authority; Danish Strategic Research Council; Swiss Federal Office of Public Health; Swiss Research Foundation on Mobile Communication; Masaryk University; Ministry of Health of the Czech Republic; Research Council of Norway; Genome Canada; Genome BC; Terry Fox Research Institute; Ontario Institute for Cancer Research; Pediatric Oncology Group of Ontario; The Family of Kathleen Lorette and the Clark H Smith Brain Tumour Centre; Montreal Children's Hospital Foundation; The Hospital for Sick Children: Sonia and Arthur Labatt Brain Tumour Research Centre, Chief of Research Fund, Cancer Genetics Program, Garron Family Cancer Centre, MDT's Garron Family Endowment; BC Childhood Cancer Parents Association; Cure Search Foundation; Pediatric Brain Tumor Foundation; Brainchild; and the Government of Ontario.
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La notice
- Revue
- The Lancet Oncology
- Thématique
- Glioma Diagnosis and Treatment
- Domaine
- Medicine
- Établissements canadiens
- Canada's Michael Smith Genome Sciences CentreBC Cancer AgencyUniversity of CalgaryMcGill UniversityUniversity of TorontoToronto General HospitalUniversity Health NetworkHospital for Sick Children
- Organismes subventionnaires
- National Heart, Lung, and Blood InstituteStrategic Research CouncilCanadian Institutes of Health ResearchBrain Tumour ResearchNational Cancer InstituteFondation de l'Hôpital de Montréal pour enfantsBC Cancer FoundationLékařská fakulta, Masarykova univerzitaEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentMasarykova UniverzitaNationales Centrum für Tumorerkrankungen HeidelbergGöteborgs UniversitetUniversitetet i OsloKarolinska InstitutetTerry Fox Research InstituteCancerfondenUniversität ZürichBundesministerium für Bildung und ForschungNorges ForskningsrådSemmelweis EgyetemBundesamt für GesundheitPediatric Brain Tumor FoundationDeutsche KrebshilfeSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungBroad InstituteForskningsrådet om Hälsa, Arbetsliv och VälfärdUniversidad Nacional Autónoma de MéxicoPediatric Oncology Group of OntarioFH FoundationInstituto Mexicano del Seguro SocialColorado State UniversityBarncancerfondenOntario Institute for Cancer ResearchUniversity of MiamiEuropean Molecular Biology OrganizationUniversity of BernMinisterstvo Zdravotnictví Ceské RepublikyRockefeller UniversityMassachusetts Institute of TechnologyUniversität BaselNational Institutes of HealthChildren's Hospital FoundationJohn D. and Catherine T. MacArthur FoundationGenome CanadaGarron Family Cancer CentreEuropean CommissionSontag FoundationHospital for Sick ChildrenGenome British ColumbiaStrategiske ForskningsrådCancer Research UKWorld Health OrganizationDeutsche KinderkrebsstiftungUniversity of ChicagoUniversity of CaliforniaVetenskapsrådetEuropean Research CouncilV Foundation for Cancer ResearchGovernment of OntarioAlexander and Margaret Stewart TrustDeutsches Krebsforschungszentrum
- Mots-clés
- MedulloblastomaGenetic predispositionRetrospective cohort studyMedicineProspective cohort studyCohortClinical trialOncologyPediatricsInternal medicinePathology
- Résumé présent dans OpenAlex
- oui