A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report

摘要

Genealogical tree of the family with Li-Fraumeni syndrome phenotype. Probands are indicated by the arrows (III:2, III:3, and III:8). Next-generation sequencing analysis found rs11540652 on TP53 in the three probands. Subsequent genetic testing was offered to individuals III:1 and II:4