The gene encoding for the subunit B of the mitochondrial enzyme succinate dehydrogenase (SDHB) is the most important contributor to hereditary malignant/metastatic phaeochromocytoma (occurs in 10%) and paraganglioma (occurs in >50%).
Mutations in the genes for other SDH subunits – D and HAF2 also appear to be related to paragangliomas.
These mutations are autosomal dominant and can be inherited in 50% of offspring of affected patients. The risk of carrying these gene mutations and the development of phaeochromocytomas or paragangliomas is variable and dependent on the ‘penetrance’ of the mutation.
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