Genetics of phaeochromocytoma

Eamonn Maher

    Research output: Contribution to journalReview article

    8 Citations (Scopus)


    Recent advances in determining the molecular basis for phaeochromocytoma susceptibility have revealed a much larger inherited contribution to the pathogenesis of phaeochromocytoma than had been generally recognized. The identification of individuals with phaeochromocytoma susceptibility disorders (e.g. von Hippel-Lindau disease, succinate dehydrogenase subunit mutations, multiple endocrine neoplasia type 2 and neurofibromatosis type 1) is important because of the opportunity to reduce morbidity and mortality from phaeochromocytoma and other relevant tumours in affected individuals and their at-risk relatives. Recent studies have also provided clues to the molecular pathogenesis of phaeochromocytoma development in familial cases and suggest that this differs from that seen in sporadic non-inherited cases.
    Original languageEnglish
    Pages (from-to)141-151
    Number of pages11
    JournalBritish Medical Bulletin
    Publication statusPublished - 1 Jun 2006


    • genetics
    • inherited
    • phaechromocytoma


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