Gene susceptibility testing in phaeochromocytoma and paraganglioma
Recent studies have suggested that around one-third of individuals with phaeochromocytoma or paraganglioma have an inherited genetic predisposition, prompting some calls for genetic testing in all patients with phaeochromocytoma or paraganglioma. Such a strategy is expensive, and variation between populations is large. Jafri and colleagues analysed data from a 10-year period in the West Midlands PPGL/HNPGL database, finding that clinical risk factors (positive family history, multiple tumours, earlier age at onset) could be used to target genetic testing in a cost-effective manner, though universal testing would be required to test all mutation carriers.
Read the full article in Jafri et al (2013) Clinical Endocrinology 78 898-906.
DOI: 10.1111/cen.12074
Source: Society for Endocrinology - Category: Endocrinology Source Type: news
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