Disseminated Medulloblastoma in a Child with Germline BRCA2 6174delT Mutation and without Fanconi Anemia

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 Here, we report for the first time on a child carrying a familial heterozygous BRCA2 6174delT germline mutation, who presented with metastatic medulloblastoma. We also provide characterization of his tumor and the unique pair of medulloblastoma cell lines generated from it at diagnosis and at the time of systemic metastatic recurrence.