ea0028p142 | Neoplasia, cancer and late effects | SFEBES2012
Venkataraman Hema
, Taylor Sophia
, Debono Miguel
, Harrison Barney
, Bull Mathew
, Newell-Price John
Background: SDH mutations cause about 80% of familial pheochromocytomas / paragangliomas (1). Although mutations in each subunit are associated with a particular clinical spectrum of disease, there is no clear genotype-phenotype correlation of a specific mutation, nor with penetrance of disease. We report characteristics of patients with SDH mutations seen in a single dedicated tertiary referral clinic.Methods: A retrospective observational study of pati...