Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas.

ABSTRACT: Pheochromocytomas and paragangliomas (PPGLs) provide some of the clearest genetic evidence for the critical role of metabolism in the tumorigenesis process. Approximately 40% of PPGLs are caused by driver germline mutations in 16 known susceptibility genes, and approximately half of these genes encode members of the tricarboxylic acid (TCA) cycle. Taking as a starting point the involvement of the TCA cycle in PPGL development, we aimed to identify unreported mutations that occurred in genes involved in this key metabolic pathway and that could explain the phenotypes of additional individuals who lack mutations in known susceptibility genes. To accomplish this, we applied a targeted sequencing of 37 TCA-cycle-related genes to DNA from 104 PPGL-affected individuals with no mutations in the m

SUBMITTER: Remacha L 

PROVIDER: S-EPMC6451733 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature