Ontology highlight
ABSTRACT:
SUBMITTER: Casey RT
PROVIDER: S-EPMC6629852 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Casey Ruth T RT Ten Hoopen Rogier R Ochoa Eguzkine E Challis Benjamin G BG Whitworth James J Smith Philip S PS Martin Jose Ezequiel JE Clark Graeme R GR Rodger Fay F Maranian Mel M Allinson Kieren K Madhu Basetti B Roberts Thomas T Campos Luis L Anstee Joanne J Park Soo-Mi SM Marker Alison A Watts Colin C Bulusu Venkata R VR Giger Olivier T OT Maher Eamonn R ER
Scientific reports 20190715 1
The enzyme succinate dehydrogenase (SDH) functions in the citric acid cycle and loss of function predisposes to the development of phaeochromocytoma/paraganglioma (PPGL), wild type gastrointestinal stromal tumour (wtGIST) and renal cell carcinoma. SDH-deficient tumours are most commonly associated with a germline SDH subunit gene (SDHA/B/C/D) mutation but can also be associated with epigenetic silencing of the SDHC gene. However, clinical diagnostic testing for an SDHC epimutation is not widely ...[more]