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
8814 3480 7895 227 11185 8815 1 2025
Изменен: 28.02.2025Путь: Главная / Басты бет / Жарияланымдар
GENETIC ANALYSIS OF TP53 AND CTNNB1 MUTATIONS IN PEDIATRIC MEDULLOBLASTOMA: A STUDY FROM KAZAKHSTAN
... significantly associated with metastasis (p = 0.008). The c.356C>G (p.Ala119Gly) variant, previously linked to Li-Fraumeni syndrome, was detected in one case. No variants were found in exons 3 and 4 of CTNNB1. Conclusion: This study highlights the role of TP53 mutations in medulloblastoma progression, particularly their association with metastasis. The absence of CTNNB1 mutations suggests that WNT pathway activation may be rare in this cohort. Further studies with larger sample sizes and functional validation are needed ...
Изменен: 28.02.2025Путь: Главная / Home / Publications
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