Dutch founder SDHB exon 3 deletion in patients with pheochromocytoma-paraganglioma in South Africa

Objective: Screening studies have established genetic risk profiles for di seases such as multiple endocrine neoplasia type 1 (MEN1) and pheochromocytoma–paraganglioma (PPGL). Founder effects play an important role in the regional/n ational epidemiology of endocrine cancers, particularly PPGL. Founder effects in the Netherlands have been described for various diseases, some of which established themselves in South Africa due to Dutch emigration. The role of Dutch founder effects in So uth Africa has not been explored in PPGL. Design: We performed a single-center study in South Africa of the ge... Mehr ...