Article
Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma.
Cold Spring Harbor molecular case studies - 1 Apr 2018
Miller Katherine E, Kelly Benjamin, Fitch James, Ross Nicole, Avenarius Matthew R, Varga Elizabeth, Koboldt Daniel C, Boué Daniel R, Magrini Vincent, Coven Scott L, Finlay Jonathan L, Cottrell Catherine E, White Peter, Gastier-Foster Julie M, Wilson Richard K, Leonard Jeffrey, Mardis Elaine R
Abstract excerpt
Gangliogliomas (WHO grade I) are rare tumors affecting the central nervous system and are most frequently observed in children. Next-generation sequencing of tumors is being utilized at an increasing rate in both research and clinical settings to characterize the genetic factors that drive tumorigenesis. Here, we report a rare BRAF somatic mutation (NM_004333.4:c.1794_1796dupTAC; p.Thr599dup) in the tumor genome...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.