SDHA
Overview
SDHA encodes the catalytic flavoprotein subunit of the succinate dehydrogenase complex; germline and somatic loss-of-function mutations cause SDH-deficient tumors including a subset of GIST and paraganglioma.
Alterations observed in the corpus
- SDHA was assessed for germline and somatic mutation in the SDH-deficient GIST subset (n=26) of the MSK gist_msk_2023 cohort PMID:37477937.
- Germline LOF variants in 7/35 (20%) KIT/PDGFRA-wildtype GIST patients PMID:36593350
Cancer types (linked)
- GIST — SDHA mutation contributes to the SDH-deficient GIST subset PMID:37477937.
Co-occurrence and mutual exclusivity
- Not specifically reported in the corpus.
Therapeutic relevance
- Not directly therapeutically targeted in the corpus.
Open questions
- The SDH-deficient subanalysis is small (n=26) PMID:37477937.
Sources
This page was processed by crosslinker on 2026-05-05. - PMID:36593350
This page was processed by crosslinker on 2026-05-05.