Ontology highlight
ABSTRACT:
SUBMITTER: Powers JF
PROVIDER: S-EPMC7219221 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Endocrine-related cancer 20200601 6
Tumors caused by loss-of-function mutations in genes encoding TCA cycle enzymes have been recently discovered and are now of great interest. Mutations in succinate dehydrogenase (SDH) subunits cause pheochromocytoma/paraganglioma (PCPG) and syndromically associated tumors, which differ phenotypically and clinically from more common SDH-intact tumors of the same types. Consequences of SDH deficiency include rewired metabolism, pseudohypoxic signaling and altered redox balance. PCPG with SDHB muta ...[more]