Searchable abstracts of presentations at key conferences in endocrinology

ea0029p114 | Adrenal medulla | ICEECE2012

Next generation sequencing is a cost effective and time saving method in clinical genetic screening of patients with pheochromocytomas

Crona J. , Delgado Verdugo A. , Granberg D. , Welin S. , Stalberg P. , Hellman P. , Bjorklund P.

Background: Pheochromocytomas are rare tumours arising from adrenal medulla. Recent findings show that about 30–40% of pheochromocytomas are caused by germline mutations in one of the ten hereto known susceptibility genes: SDHA, SDHB, SDHC, SDHD, SDHAF2, RET, VHL, NF1, TMEM127 and MAX. This list of genes is constantly growing. These ten genes together consist of 128 exons and a genetic screening test is both extensive time-consuming and expensive. We introduce utilizing N...