International
SDH Consortium During the past three years, mutations have been identified
in SDHB and SDHD (genes encoding for SDHB and SDHD, component peptides of mitochondrial
complex II) in patients with familial pheochromocytoma and apparently sporadic
pheochromocytoma. As these tumors are rare, there is a paucity of information
with regard to genotype/phenotype correlations and penetrance of disease in families
with identified SDHB and SDHD mutations. In an effort to answer these questions,
we have established an International SDH Consortium and are seeking international
cooperation to achieve sufficient numbers to draw statistically relevant conclusions.
We currently have 60 families entered and would welcome the inclusion of any patients/families
in whom germline SDHB or SDHD mutations have been identified in association with
pheochromocytoma and /or paraganglioma. It is intended that the results of the
study be submitted for publication in a peer- reviewed journal. The study
involves patient consent for the clinician to complete a Data Information sheet
on the patientÕs medical history and then the de-identified data to be
sent to the co-ordinating centre. Family members who have been identified as SDHB
or SDHD mutation positive, but who do not have evidence of disease are also invited
to participate. For more information please contact: Dr Dindy Benn at dbenn@med.usyd.edu.au
International SDH Consortium Coordinating Group Cancer Genetics
Kolling Institute of Medical Research Royal North Shore Hospital St Leonards,
NSW 2065, Australia Professor Bruce Robinson MD MSc FRACP at bgr@med.usyd.edu.au
Dr Deborah Marsh BScAgr PhD at dmarsh@med.usyd.edu.au Dr Dindy Benn MSc
(Med) PhD at dbenn@med.usyd.edu.au Ms Jennifer Reilly B Comm at jreilly@gmp.usyd.edu.au
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