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British Medical Bulletin 2006 79-80(1):141-151; doi:10.1093/bmb/ldl002
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© The Author 2006. Published by Oxford University Press. For permissions, please e-mail: journals.permissions@oxfordjournals.org

Genetics of phaeochromocytoma

Eamonn R. Maher*

Section of Medical and Molecular Genetics, University of Birmingham School of Medicine and West Midlands Regional Genetics Service, Birmingham, UK

* Correspondence to: Prof. E. R. Maher, Section of Medical and Molecular Genetics, University of Birmingham, Institute of Biomedical Research, Edgbaston, Birmingham, B15 2TT, UK. Tel.: +44 121 627 2741; fax: +44 121 414 2538; e-mail: e.r.maher{at}bham.ac.uk

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.

Keywords: genetics • inherited • phaechromocytoma

Accepted for publication May 18, 2006.


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