Ontology highlight
ABSTRACT:
SUBMITTER: Powers JF
PROVIDER: S-EPMC7219221 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Powers James F JF Cochran Brent B Baleja James D JD Sikes Hadley D HD Pattison Andrew D AD Zhang Xue X Lomakin Inna I Shepard-Barry Annette A Pacak Karel K Moon Sun Jin SJ Langford Troy F TF Stein Kassi Taylor KT Tothill Richard W RW Ouyang Yingbin Y Tischler Arthur S AS
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]