Germline loss-of-function variant in the E3 ubiquitin ligase TRAF2 in a young adult patient with medulloblastoma: a case report

Germline loss-of-function variant in the E3 ubiquitin ligase TRAF2 in a young adult patient with medulloblastoma: a case report

Abstract We identified a rare heterozygous germline loss-of-function variant in the tumor necrosis factor receptor-associated factor 2 (TRAF2) in a young adult patient diagnosed with medulloblastoma. This variant is located within the TRAF-C domain of the E3 ubiquitin ligase protein and is predicted...

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Bibliographic Details
Main Authors: Josh N. Vo, Andrea Franson, Sebastian M. Waszak, Yi-Mi Wu, Nicole Becker, Arul M. Chinnaiyan, Dan R. Robinson
Format: Article
Language:English
Published: BMC 2024-12-01
Series:Acta Neuropathologica Communications
Subjects:
Medulloblastoma
AYA
TRAF2
Genetic tumor syndromes
Online Access:https://doi.org/10.1186/s40478-024-01896-8

Internet

https://doi.org/10.1186/s40478-024-01896-8

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