Pathogenic variants (disease-causing) in the SDHC gene can predispose individuals to tumors such as paragangliomas (head and neck tumor), pheochromocytomas (adrenal gland tumor), kidney cancer, and gastrointestinal stromal tumors (GIST – a rare gastric or small bowel cancer). Management of SDHC–related tumor risk includes regular surveillance tailored to guidelines for hereditary paraganglioma–pheochromocytoma syndromes, typically involving periodic biochemical testing, whole-body or targeted MRI, and clinical evaluation to detect tumors early. SDHC variants are not known to be more common in the Ashkenazi Jewish population.
Pathogenic variants in SDHC exhibit autosomal dominant inheritance. This means there is a 50% chance the condition can be passed from generation-to-generation. First degree relatives (parents, siblings, children) have a 50% chance to have the same pathogenic variant whereas second degree relatives (grandparents, aunts/uncles, nieces/nephews, half-siblings) have a 25% chance. More distant relatives have lower chances of having the same pathogenic variant when one is identified in the family.
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Written December 2025
