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Lack of KBTBD4 mutations in molecularly classified Brazilian medulloblastomas

Leal, Letícia Ferro; Cavagna, Rodrigo de Oliveira; Campanella, Nathalia Cristina; Mançano, Bruna; Almeida, Gisele Caravina; Matsushita, Marcus

Medulloblastoma is the most frequent malignant brain tumor in children, representing 20% of all childhood brain tumors. Currently, medulloblastomas are molecularly classified in 4 subgroups that are associated with distinctive clinicopathological features. KBTBD4 mutations were recently described in a subset of MBGRP3 and MBGRP4 medulloblastomas subgroups. However, no other studies reported KBTBD4 mutations in ...


The prognostic impact of TERT promoter mutations in glioblastomas is modified b...

Batista, Rui; Cruvinel-Carloni, Adriana; Vinagre, João; Peixoto, Joana; Catarino, Telmo A.; Campanella, Nathalia Cristina; Menezes, Weder

Human hotspot TERT promoter (TERTp) mutations have been reported in a wide range of tumours. Several studies have shown that TERTp mutations are associated with clinicopathological features; in some instances, TERTp mutations were considered as biomarkers of poor prognosis. The rs2853669 SNP, located in the TERT promoter region, was reported to modulate the increased TERT expression levels induced by the recurr...


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