GENETIC ANALYSIS OF TP53 AND CTNNB1 MUTATIONS IN PEDIATRIC MEDULLOBLASTOMA: A STUDY FROM KAZAKHSTAN
1 2025
Изменен: 28.02.2025Путь: Главная / Публикации
GENETIC ANALYSIS OF TP53 AND CTNNB1 MUTATIONS IN PEDIATRIC MEDULLOBLASTOMA: A STUDY FROM KAZAKHSTAN
... medulloblastoma remains incompletely understood. This study aimed to analyze TP53 and CTNNB1 variants in Kazakhstani pediatric medulloblastoma patients and assess their clinical significance. Methods: A retrospective analysis was conducted on 33 pediatric medulloblastoma cases from 2015 to 2023. Formalin-fixed paraffin-embedded (FFPE) tumor tissues were used for DNA extraction and Sanger sequencing of TP53 (exons 4, 5, 6, 7, 8) and CTNNB1 (exons 3, 4). Genetic variants were classified using ClinVar, ACMG guidelines, and AMP classification. Statistical associations between mutations, clinical features, and outcomes were assessed....
Изменен: 28.02.2025Путь: Главная / Home / Publications
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